Down Syndrome Research and Practice 12(2)

Verbal and non-verbal requests in Spanish speaking children with Down syndrome

Donna Jackson-Maldonado, Bertha Badillo, and Nancy Aguilar

Children with Down syndrome have been described to have language, social-communicative and intentional skills that lag behind age-matched peers, with frequent gesture use that is not accompanied by vocalisations or words. Early intentional communication, particularly requests, has been shown to be an important step in future language development. This is a preliminary study that explores the use of verbal and non-verbal requests in 4 Spanish-speaking children with Down syndrome from very low income families. Children were observed in an elicited request task and language level was evaluated using a parental report. Results showed that all participants were very delayed in their language production. Children used mostly combinations of non-verbal requests. Data support previous studies in that Spanish-speaking children also use non-verbal requests for a prolonged period of time as a strategy to compensate for their linguistic deficits. Findings differ from previous studies in that most combinations of gestures were complementary and not equivalent. Their language development was much more depressed than most data published to date. This lag could be explained because children were from very low income environments and they may lack stimulation because of family situations. It is suggested that data from a larger sample be collected and compared to typically developing children in order to make a stronger proposal about the use of non-verbal forms as a bridge to verbal productions.

Jackson-Maldonado, D, Badillo, B, and Aguilar, N. (2010) Verbal and non-verbal requests in Spanish speaking children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Using photographs to scaffold literacy activities with young adults with Down syndrome

Karen Moni, and Anne Jobling

This article describes how photographs have been used in literacy activities for young adults with Down syndrome participating in a post-school literacy programme. We describe how the principled use of photographs in literacy teaching can: scaffold literacy learning, specifically in the writing of stories and recounts; support writing about abstract concepts, and support extended autobiographical writing with learners who have diverse literacy strengths and needs. Photographs are intrinsically interesting resources for developing literacy because they are actual representations of important known events in young adults' lives. Thus in talking and writing about photographs, these young adults are motivated to construct extended texts that have relevance to their own lives. The learners' developed written texts can be used as more accessible reading material.

Moni, K, and Jobling, A. (2010) Using photographs to scaffold literacy activities with young adults with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.




Speech control in children with Down syndrome

Pete Howell

Two areas where speech fluency problems arise, the motor system and the speech-language interface, are described and their implications for characterising the dysfluencies made by children with Down syndrome are discussed. Research topics are identified and implications for the treatment of speech problems in children with Down syndrome are drawn.

Howell, P. (2010) Speech control in children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Literacy environments for children with Down syndrome: What's happening at home?

Anne van Bysterveldt, Gail Gillon, and Susan Foster-Cohen

This descriptive study investigated the home literacy environment of New Zealand children with Down syndrome. Participants were 85 children with Down syndrome enrolled in predominantly mainstream school programmes in years 1-8, who were aged between 5;4 (y; m) and 14;11 (M = 8;11, SD = 2;6), comprising an estimated 15% of children with Down syndrome in New Zealand primary education[1]. Survey data via questionnaire (modelled on Boudreau[2]), was gathered from participant's parents and targeted three broad themes including parents' priorities regarding literacy for their child with Down syndrome, ways in which the HLE of children with Down syndrome supports literacy development and the ways children with Down syndrome participate in literacy interactions. Results were analysed for all participants and by age group which are presented when group differences were apparent. Results indicated the majority of parents are involved in regular literacy interactions with their child, although more with reading than with writing. Many children played an active role in joint reading activities, interacting with both pictures and text, although more with pictures than with text. Children were reported to use a wide range of writing materials. Parents also reported other ways in which they facilitated literacy development including active teaching, language games and library visits. Clinical implications for parents and professionals working with children with Down syndrome are discussed with reference to relationships between HLE variables and positive literacy outcomes and provide support for the development of targeted interventions specifically aimed at facilitating literacy with this population.

van Bysterveldt, A, Gillon, G, and Foster-Cohen, S. (2010) Literacy environments for children with Down syndrome: What's happening at home?. Down Syndrome Research and Practice, 12(2), 98-102.


Investigating free software for children with Down syndrome

Bob Black

The use of ICT as an aid to learning has been an integral part of special education for over 20 years in the UK. During this time software resources have developed that are particularly relevant to the learning profile of this group of learners. As access to computers and the Internet becomes cheaper and more available, the 'Digital Divide' gets smaller as more homes have access to resources that enhance the lives and learning of traditionally more isolated groups. While more able users have access to a whole host of free to use activities both on the computer and increasingly 'On Line', young people with cognitive and motor difficulties can struggle to find 'user friendly' resources that meet their needs. This simple investigation brings together information on free resources that tackle this problem and make available a range of educational and leisure opportunities that are more likely meet the individual needs of a range of young people with Down syndrome.

Black, B. (2010) Investigating free software for children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Electropalatography in the assessment and treatment of speech difficulties in children with Down syndrome

Sara Wood

Many children with Down syndrome experience significant speech difficulties which in turn affects their speech intelligibility. This paper describes how electropalatography, a computer-based technique which uses visual feedback to alter speech production, is being used at Queen Margaret University, to assess and treat speech difficulties in a group of children and young people with Down syndrome. Encouraging results from a single case are reported.

Wood, S. (2010) Electropalatography in the assessment and treatment of speech difficulties in children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


A preliminary study of intervention addressing early developing requesting behaviours in young infants with Down syndrome

Emily Jones, Kathleen Feeley, and Catherine Blackburn

Infants with Down syndrome display characteristic deficits in early communicative behaviours, including requesting. This deficit significantly and negatively impacts later communication and cognitive development. In this study, we explored intervention to address requesting in young infants with Down syndrome. Two infants with Down syndrome were taught increasingly sophisticated forms of early requesting skills (i.e., gaze shifting and gaze shifting paired with vocalisation). One of the infants was also taught a verbal approximation of the word "more". The application of interventions to address and prevent impairments characteristic of the behavioural phenotype demonstrated by infants and children with Down syndrome is discussed.

Jones, E, Feeley, K, and Blackburn, C. (2010) A preliminary study of intervention addressing early developing requesting behaviours in young infants with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.



The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism

Kamil Hozyasz, Beata Pyrzak, and Marta Szymanska

The incidence of immune mediated diseases and hormonal disturbances is increased in people with Down syndrome. However, there are only three published reports of the coexistence of thyroid disorder, insulin dependent diabetes mellitus and coeliac disease in children with Down syndrome. Here we describe a young male with Down syndrome who was diagnosed with congenital hypothyroidism, diabetes mellitus, and coeliac disease. The role of serological screening for coeliac disease in children with Down syndrome is discussed.

Hozyasz, K, Pyrzak, B, and Szymanska, M. (2010) The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism. Down Syndrome Research and Practice, 12(2), 98-102.


Autoimmunity puzzle in Down syndrome

Corin Badiu, Simona Verzea, Maria Picu, and Cornelia Pencea

One of the most common genetic abnormalities, Down syndrome is associated with intellectual disabilities as well as increased incidence of autoimmune diseases. Endocrine disorders, such as diabetes and thyroid dysfunction are amongst the most common. We describe the case of a 27 year old woman diagnosed with diabetes at the age of 9, who had associated crises of loss of consciousness from the age of 23 and developed primary autoimmune hypothyroidism from the age of 25 years with chronic pericardial effusion. Neurological examination considered the diagnosis of absence crises; therefore she started taking Carbamazepine 400 mg daily since the age of 23. At admission, the patient was obese (BMI =32 kg/m2), with neck localised acanthosis nigricans. The clinical examination revealed signs of hypothyroidism without goitre. Diagnosis was confirmed by TSH = 350 mUI/L, anti TPOAb = 329.9 U/ml as well as pericardial effusion on echocardiography. She started thyroxine replacement therapy, while being on basal/bolus insulin regimen (short and intermediate acting insulin). Full control of diabetes was not achieved until she also received metformin and basal insulin analog. TSH level reached normal values of 2.4 mU/L only after a LT4 substitution dose of 150 µg daily. Evolution of thyroid status and diabetes under progressive thyroxine substitutive treatment is discussed. Compliance to diet, diabetes and myxoedema treatment is severely influenced by her intellectual disabilities. Screening for thyroid status and autoimmunity in order to detect subclinical hypothyroidism, should be performed in patients with Down syndrome.

Badiu, C, Verzea, S, Picu, M, and Pencea, C. (2010) Autoimmunity puzzle in Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Report of Research Directions Symposium

Sue Buckley

A report of the first meeting of the Down Syndrome Research Directions Symposium, held in October 2007. The symposium, hosted by Down Syndrome Education International in Portsmouth, brought together a multi-disciplinary team of 80 leading scientists and practitioners from across the world with the aim of reviewing current understanding, identifying and prioritising future research, and identifying best practice in care.

Buckley, S. (2009) Report of Research Directions Symposium. Down Syndrome Research and Practice, 12(3), 185-187.



The importance of evidence-based practice

Sue Buckley

This editorial discusses the ways in which evidence-based practice should be developed and evaluated, from first hypotheses to gold standard 'blind' randomised control trials but also acknowledges that parents, educators and therapists usually have to make decisions on how to best help children with Down syndrome in the absence of this evidence. Guidance is offered on the ways in which new therapies can be evaluated, arguing strongly for objective evaluations and the avoidance of unproven and scientifically implausible approaches.

Buckley, S. (2009) The importance of evidence-based practice. Down Syndrome Research and Practice, 12(3), 165-167.


The effects of early auditory deprivation - insights from children with cochlear implants

Michèle Pettinato

This update explores the importance of early auditory stimulation by considering the development of speech processing skills in profoundly deaf children who have received a cochlear implant. This literature is relevant to issues affecting children with Down syndrome, because like them, children with cochlear implants have hearing difficulties, but unlike the former, they do not have oral-motor issues.

Pettinato, M. (2009) The effects of early auditory deprivation - insights from children with cochlear implants. Down Syndrome Research and Practice, 12(3), 176-178.


Down Syndrome and golf

Victor Bishop

Around age 10, if not hopefully way before, parents with a child with Down syndrome make the transition from therapy to sports and recreation; from aquatic therapy to swimming; from hippotherapy to horseback riding. It was readily apparent from Emmanuel's first golf range practice that he had an innate ability to swing a golf club. It is in his genes. He is at a disadvantage with his typically developing peers that his father has never wielded a golf club in his life.

Bishop, V. (2009) Down Syndrome and golf. Down Syndrome Research and Practice, 12(3), 248-249.




Modelling Down syndrome

Frank Buckley

Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down syndrome, and may one day point to useful ways to improve quality of life for people living with Down syndrome.

Buckley, F. (2008) Modelling Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.




Wrongful deaths and rightful lives - screening for Down syndrome

Frank Buckley, and Sue Buckley

Prenatal screening for Down syndrome affects millions of pregnancies every year worldwide. The vast majority of screen-positive results are false, yet encourage invasive diagnostic procedures that pose additional risks to unborn babies. As a direct consequence many babies who do not have Down syndrome are lost. We estimate that current screening practice in England and Wales reduces annual live births of babies with Down syndrome by around 660 and leads to the losses of 400 babies without Down syndrome. Although prenatal diagnoses are becoming more frequent, more babies with Down syndrome are being born (up 25% over 15 years). Considerable attention has been given to studying the performance of competing screening techniques, yet relatively little attention has been given to the consequences for the psychological and physical wellbeing of all parents and their babies. Meanwhile, quality of life for people with Down syndrome continues to improve. In many countries, people with Down syndrome are living longer and achieving more than ever before. The authors urge policymakers to note that the live birth prevalence of Down syndrome continues to rise and that average life expectancy is now approaching 60 years. Accordingly, research and practice priorities should shift from prevention to improving care, education and support for a growing and ageing population. We suggest that policies permitting genetic screening for mental or physical abilities should be reviewed through wide public debate before new prenatal diagnosis and genome sequencing technologies become more readily available.

Buckley, F, and Buckley, S. (2008) Wrongful deaths and rightful lives - screening for Down syndrome. Down Syndrome Research and Practice, 12(2), 79-86.


Folate metabolism and the risk of Down syndrome

David Patterson

Folate is an important vitamin that contributes to cell division and growth and is therefore of particular importance during infancy and pregnancy. Folate deficiency has been associated with slowed growth, anaemia, weight loss, digestive disorders and some behavioural issues. Adequate folate intake around the time of conception and early pregnancy can reduce the risk of certain problems including neural tube defects. It has been suggested that certain versions (polymorphisms) of some genes can increase the risk of conceiving a baby with Down syndrome. If this is the case, then people with Down syndrome may be more likely to carry these forms of these genes and to experience associated problems in folate metabolism. Studies to date have found conflicting results, suggesting that these gene variants may be part of a more complex picture. In this issue, a further study reports no association between the presence of a common polymorphism of one of these genes and the risk of having a child with Down syndrome among mothers of Northern Indian origin. This article reviews these challenging findings and looks at where investigations can now go to resolve these issues.

Patterson, D. (2008) Folate metabolism and the risk of Down syndrome. Down Syndrome Research and Practice, 12(2), 93-97.


Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires

Kathleen Feeley, and Emily Jones

Several characteristics associated with the Down syndrome behavioural phenotype as well as biological factors are likely to increase the presence of challenging behaviour in individuals with Down syndrome. The application of evidenced based strategies assessing and addressing challenging behaviours in individuals with developmental disabilities can be systematically applied to address such behaviours in individuals with Down syndrome. Additionally, evidence based strategies can be systematically implemented by caregivers of very young children with Down syndrome to address early communication skills (requesting, vocal imitation), escape behaviours, and self stimulatory behaviour thus diminishing early developing behaviours likely to lead to more significant challenges as the child with Down syndrome matures.

Feeley, K, and Jones, E. (2008) Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires. Down Syndrome Research and Practice, 12(1), 11-14.



Motherhood and genetic screening: a personal perspective

Fiona Place

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images of 'successful' birth outcomes showcasing the importance of their work. Unsurprisingly this has lead to women being expected to take control - from timing a pregnancy to choosing one particular pregnancy over another - they are to improve their lives and the health of their offspring. But are these developments all 'good' news? Is it safe to assume the push to achieve better birth outcomes and the concomitant use of prenatal testing automatically improves lives? Could it be the issues raised are causing some lives to become harder? How meaningful, for example, are tests such as amniocentesis and CVS? As the mother of a child with Down syndrome I believe it is important for myself and other women in similar situations to share their lived experience. Perhaps we can illuminate some of the more complex and troubling issues these technological advances have the capacity to create - not only for ourselves - but for all women.

Place, F. (2007) Motherhood and genetic screening: a personal perspective. Down Syndrome Research and Practice, 12(2), 118-126.


Handling the transfer to secondary school

Elaine Bull

The transfer to secondary education can be an anxious time and planning ahead can help. This article offers practical advice about what to consider, when to start planning and discusses many of the issues involved in the transition to later schooling. Written from the perspective of the English school system, many of the issues and principles are broadly applicable.

Bull, E. (2007) Handling the transfer to secondary school. Down Syndrome Research and Practice, 12(2), 112-117.


Special at school but lonely at home: An alternative friendship group for adolescents with Down syndrome

Jeanne D'Haem

Friends play a significant role in mental and physical health; however, individuals with Down syndrome and other developmental disabilities, even those who are included in general education programmes, have not developed friendships as hoped. After a decade of inclusion and structured school programmes to facilitate friendships, many parents report that peer relationships end after school hours. This study compared the efficacy of school based friendship groups with a mixed age home based group. Specific methods to establish a successful friendship group are discussed. This study followed three friendship groups for five years. Two groups of six to eight general education students met with the target student twice a month during the school day; one group of mixed age participants met in the student's home. A counsellor facilitated all the groups. Parent and student concerns regarding friendships were informally assessed with interviews and observations. Observations and interviews confirmed that although peer interactions during school occurred they did not continue after school. Of the three students studied, only one had a relationship with a same-aged peer after four years of school facilitated groups. Two students had significant feelings of depression during high school. One student entered counselling. The home-based mixed age friendship group did result in significant friendships. The individual participated in two or three activities each month with friends from the group. School based friendship groups of adolescent peers were not successful in developing friendships for individuals with Down syndrome. When a multi-age group was conducted outside of the school, friendships formed and have continued for over two years. This article describes how and why parents and professionals should look beyond school based same age peer friendship groups and consider a community circle of mixed-age friends.

D'Haem, J. (2007) Special at school but lonely at home: An alternative friendship group for adolescents with Down syndrome. Down Syndrome Research and Practice, 12(2), 107-111.


Medical conditions and medication use in adults with Down syndrome: A descriptive analysis

Gerard Kerins, Kimberly Petrovic, Mary Bruder, and Cynthia Gruman

Background: We examined the presence of medical conditions and medication use within a sample of adults with Down syndrome. Methods: Retrospective chart review using a sample of 141 adults with Down syndrome and age range of 30 to 65 years. Results: We identify 23 categories of commonly occurring medical conditions and 24 categories of medications used by adults with Down syndrome. Conclusion: Approximately 75 of older adults with Down syndrome in our sample experience memory loss and dementia. Hypothyroidism, seizures, and skin problems also occur commonly. The prevalence of cancer (i.e., solid tumours) and hypertension is extremely low. Older adults with Down syndrome use anticonvulsant more often than younger adults with Down syndrome. The use of multivitamins and medications such as pain relievers, prophylactic antibiotics, and topical ointments is common.

Kerins, G, Petrovic, K, Bruder, M, and Gruman, C. (2007) Medical conditions and medication use in adults with Down syndrome: A descriptive analysis. Down Syndrome Research and Practice, 12(2), 141-147.


Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome

Utkarsh Kohli, Sadhna Arora, Madhulika Kabra, Lakshmy Ramakrishnan, Sheffali Gulati, and Ravindra Pandey

Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study examined the prevalence of the MTHFR C677T polymorphism among 104 north Indian mothers of babies with Down syndrome and 109 control mothers. The prevalence of MTHFR C677T polymorphism observed among mothers of babies with Down syndrome was 28% compared to 35% in controls (C677T/T677T). There was no significant difference between the two groups (p = 0.294). Mean homocysteine level in mothers of children with Down syndrome was lower than the level in the controls. Our data suggests that the MTHFR C677T polymorphism is not associated with an increased risk of Down syndrome in the north Indian population. Homocysteine levels in our study were higher when compared to other studies. Methylcobolamin and folate deficiency or use of random samples for homocysteine determination could possibly account for this observation.

Kohli, U, Arora, S, Kabra, M, Ramakrishnan, L, Gulati, S, and Pandey, R. (2007) Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down Syndrome Research and Practice, 12(2), 133-137.


Medical issues among children and teenagers with Down syndrome in Hong Kong

Winnie Yam, Philomena Tse, Chak Yu, Chun Chow, Wai But, Kit Li, Lai Lee, Eva Fung, Pauline Mak, and Joseph Lau

We examined the prevalence of medical problems in children and teenagers with Down syndrome in Hong Kong. Methods: Children with Down syndrome receiving care from seven regional hospitals were included and their hospital records were reviewed. A total of 407 patients, aged between 0.06 and 17.16 years were included. Cardiovascular problems were observed in 216 (53%), endocrine problems in 111 (27%), gastrointestinal problems in 46 (11%), haematological problems in 18 (4%), neurological problems in 27 (7%), sleep problems in 36 (9%), skeletal problems in 56 (14%), visual problems in 195 (48%) and auditory problems in 137 (34%). Conclusions: The prevalence of medical problems was high in children and teenagers with Down syndrome in Hong Kong and similar to previous findings elsewhere. Future studies on the local prevalence of medical problems in the adult population with Down syndrome would help to define their medical needs.

Yam, W, Tse, P, Yu, C, Chow, C, But, W, Li, K, Lee, L, Fung, E, Mak, P, and Lau, J. (2007) Medical issues among children and teenagers with Down syndrome in Hong Kong. Down Syndrome Research and Practice, 12(2), 138-140.



Teaching numeracy

Sue Buckley

Understanding number concepts and basic mathematical skills is important for many everyday activities in modern societies. Little is understood about the numeracy abilities of people with Down syndrome. At present, it appears that numeracy is an area of relative difficulty and that progress with more complex mathematical understanding is slow. However, some teaching approaches that seek to utilise certain relative strengths to communicate number concepts seem to be useful in practice. Further research is needed to define the precise difficulties experienced by children with Down syndrome and to evaluate teaching strategies.

Buckley, S. (2007) Teaching numeracy. Down Syndrome Research and Practice, 12(1), 11-14.



Sam's progress with learning mathematics

Lynne Haslam

Sam is 18 years old and has Down syndrome. He achieved a grade in the standard assessment of mathematics (GCSE) at 16 years of age. This paper describes the part played in his success in school by the Kumon method of teaching mathematics, identifies the benefits of the small steps and lots of practice built in to the method and illustrates the way Sam applied his Kumon learning in school.

Haslam, L. (2007) Sam's progress with learning mathematics. Down Syndrome Research and Practice, 12(1), 32-33.



Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome

Folakemi Oredugba

Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age group, sex and educational background of parents. Result: Participants with Down syndrome had poorer oral hygiene than controls, with no significant sex difference. Oral hygiene was similar in the lower age groups but deteriorated with age in the Down syndrome group. Conclusion: Individuals with Down syndrome in Nigeria have poorer oral health and more treatment needs than controls. They would benefit from frequent oral health assessment.

Oredugba, F. (2007) Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome. Down Syndrome Research and Practice, 12(1), 72-76.


New and old directions

Frank Buckley

Improved social and educational opportunities and access to informed healthcare are helping today's generations of people with Down syndrome to achieve more and live longer. This progress is bringing new challenges. Scientific research is steadily improving our understanding of the condition. Future improvements in the lives of people with Down syndrome will require multidisciplinary efforts and more applied or translational research with practical outcomes. In this context, this journal has reviewed the roles it plays in communicating research to specialists and non-specialists, families, practitioners and researchers alike.

Buckley, F. (2007) New and old directions. Down Syndrome Research and Practice, 12(1), 1-4.


Katrina's progress with learning mathematics

Jan McConnochie, and Greg Sneath

Katrina is 10 years old and has Down syndrome. She is making good progress with learning and numbers and mathematics. We describe how Katrina has learned number concepts and arithmetic skills over several years. We highlight the influence of early learning habits, visual supports, motivation and practice, and the uses made of different number teaching schemes.

McConnochie, J, and Sneath, G. (2007) Katrina's progress with learning mathematics. Down Syndrome Research and Practice, 12(1), 34-37.


Increasing opportunities for physical activity

Sue Buckley

Being physically active can have a number of benefits - having fun, meeting with friends, keeping healthy and experiencing success. For children with Down syndrome the foundations need to be laid early if they are to keep active in school, teenage and adult years and parents ask for more help in this area from professionals.

Buckley, S. (2007) Increasing opportunities for physical activity. Down Syndrome Research and Practice, 12(1), 18-19.


Early Intervention in Vietnam

Marja Hodes

This essay describes the setting up of early intervention services in Vietnam. From the outset, there was a focus on developing staff training programmes alongside establishing model early intervention programmes to ensure that the work would be sustained at the end of the project funding and spread throughout the country. The success of this work has now led to the government of Vietnam wanting to move to the next stage and to begin to develop training for full inclusion of children with disabilities in the school system.

Hodes, M. (2007) Early Intervention in Vietnam. Down Syndrome Research and Practice, 12(1), 38-41.


Drug treatment improves memory in mice

Frank Buckley, and Ben Sacks

Mice that carry additional copies of genes comparable to those present on human chromosome 21 have been shown to perform better on memory tests when treated with drugs that target brain function. Could this be an important break-through in the search for pharmacological therapies to assist people with Down syndrome?

Buckley, F, and Sacks, B. (2007) Drug treatment improves memory in mice. Down Syndrome Research and Practice, 12(1), 20-21.


Down syndrome in the neurology clinic: Too much? Too little? Too late?

Andrew Larner

This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in > 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in 6 patients. Only one new, comorbid, diagnosis was made. Neurologists have little exposure to, and hence little chance to develop expertise in, the neurological complications of Down syndrome. It is suggested that closer liaison between neurologists and psychiatrists with an interest in learning disability might improve the management of neurological problems in patients with Down syndrome.

Larner, A. (2007) Down syndrome in the neurology clinic: Too much? Too little? Too late?. Down Syndrome Research and Practice, 12(1), 69-71.




Teaching spontaneous responses to a young child with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.

Feeley, K, and Jones, E. (2007) Teaching spontaneous responses to a young child with Down syndrome. Down Syndrome Research and Practice, 12(2), 148-152.


Strategies to address challenging behaviour in young children with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may present problems within community, leisure, and educational settings, and, in many instances, precludes them from accessing these environments. Factors contributing to the occurrence of challenging behaviours include characteristics associated with the Down syndrome behavioural phenotype, increased incidence of illness and sleep disorders, and the way in which individuals in their environment respond to their behaviours. In this paper we describe the use of behaviourally based intervention strategies to address some of the specific challenges often seen in young children with Down syndrome. Through a series of case studies, the effectiveness of evidence-based interventions addressing challenging behaviour is demonstrated.

Feeley, K, and Jones, E. (2007) Strategies to address challenging behaviour in young children with Down syndrome. Down Syndrome Research and Practice, 12(2), 153-163.




Prevalence of bruxism among Mexican children with Down syndrome

Rubén López-Pérez, Patricia López-Morales, Borges-Yáñez, Gerardo Maupomé, and Gustavo Parés-Vidrio

This study sought to determine the prevalence of bruxism in a Mexican community of children with Down syndrome, and to evaluate bruxism's relationship with age, sex, intellectual disability level, and type of chromosomal abnormality of trisomy 21. Using a cross-sectional design, 57 boys and girls (3 to 14 years old) were examined. Three approaches to establish presence or absence of bruxism were employed: parental questionnaire, clinical examination, and dental study casts. Data were analysed using bivariate analyses and conditional logistic regression. We found that the overall prevalence of bruxism was 42%. No statistically significant associations between bruxism and age, sex, or intellectual disability level were found. There was, however, a significant association between bruxism and type of chromosomal abnormality, with mosaicism being more frequently associated with bruxism.

López-Pérez, R, López-Morales, P, Borges-Yáñez, Maupomé, G, and Parés-Vidrio, G. (2007) Prevalence of bruxism among Mexican children with Down syndrome. Down Syndrome Research and Practice, 12(1), 45-49.


Parents' perceptions of health and physical activity needs of children with Down syndrome

Kristi Menear

Individuals with Down syndrome typically have low fitness levels and obesity despite data that indicate physiological gains from physical activity and exercise interventions. Low fitness levels and obesity in individuals with Down syndrome may be related to sedentary lifestyles, social and recreational opportunities, or low motivation to be physically active. These causal influences on the overall health of individuals with Down syndrome may be related to parental or caregiver support. Through this study, parents of children with Down syndrome from preschool to adolescent ages were interviewed about their perceptions of the health and physical activity needs of their children. Data from four focus groups indicated the following most salient themes: (1) all parents believed participation in physical activity has immediate and long-term positive health impacts on their child with Down syndrome, and most of the parents thought their child would benefit from being more physically active, (2) most parents observed that their child participated in physical activities primarily for social reasons, most notably to be with their peers with or without Down syndrome or to be with their sibling(s), and that without such motivation their child would choose sedentary activities, (3) parents of teenagers identified a need for their child to learn an individual sport to have sporting opportunities that do not require ability-matched teammates and opponents, and (4) parents recognised their need for help from physical activity specialists through either parent education regarding home-based physical activity programmes or an increase in appropriate community-based physical activity programmes for their child with Down syndrome. The interview data suggest future research should evaluate the outcomes of long-term individualised home-based physical activity interventions for children with Down syndrome. Additionally, educators, recreation specialists, and therapists should assist children and youth with their acquisition of skills used in individual and dual sports.

Menear, K. (2007) Parents' perceptions of health and physical activity needs of children with Down syndrome. Down Syndrome Research and Practice, 12(1), 60-68.


Metric analysis of the hard palate in children with Down syndrome - a comparative study

Gopalan Bhagyalakshmi, Annappa Renukarya, and Sayee Rajangam

The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed misaligned teeth and a large and fissured tongue. As a result good palato-lingual contact is not achieved, with resulting defective articulation. Using orthodontic and prosthodontic principles could modify this situation, i.e. the anatomy of the hard palate. The altered palatal contour may give better placing to the tongue, leading to improved palato-lingual contact and articulation. The dimensional parameters measured were: average linear width (AVL), average curvilinear width (AVCL), average height (AVH) at different planes; average antero-posterior length (AAP), average volume (V), palatal arch length (PAL), and palatal index (PI). The findings were compared with those of controls of the same age and sex. The AVL, AVCL, AAP, PAL, V and PI values of patients with Down syndrome were found to be less than the corresponding values of controls and the average height values of patients with Down syndrome were greater than the corresponding values of controls. Statistical significance was observed in all measurements between the controls and the patients with Down syndrome, especially in those concerning the height and the volume of the oral cavity. Observations from this study have suggested that prostheses might be designed to modify the palatal anatomy and produce better articulation in people with Down syndrome.

Bhagyalakshmi, G, Renukarya, A, and Rajangam, S. (2007) Metric analysis of the hard palate in children with Down syndrome - a comparative study. Down Syndrome Research and Practice, 12(1), 55-59.


The impact of periodontal disease on the quality of life of individuals with Down syndrome

Ana Loureiro, Fernando Costa, and José da Costa

Objective: This study aimed to determine the prevalence of periodontal disease among children and adolescents with Down syndrome and the possible repercussions of such pathology in the quality of life of the group in question. Method: The sample consists of 93 individuals with Down syndrome 6 - 20 years old, living in Brazil (Minas Gerais). Periodontal probing was carried out on every site of each tooth. The Plaque Index and periodontal clinical parameters were recorded. A broad interview was carried out with the mothers, consisted of an adaptation of the Oral Health Impact File OHIP-14 that was used to measure the negative repercussions of periodontal disease in the daily lives of these individuals. Results: The prevalence of gingivitis was 91%, whereas periodontitis was found in 33% of the individuals. When the impact of periodontal disease on the quality of life was correlated with the clinical periodontal parameters, it was observed that there are significant statistical differences among them: bleeding on probing, probing depth and attachment loss. These same results, correlated with all the different groups that are categorised according to the diagnosis of periodontal disease, also show significant differences. Conclusions: Periodontal disease can be considered as a condition with high prevalence within the group in question, which has negative effects on the quality of life of the subjects. These effects are aggravated by the seriousness of the disease.

Loureiro, A, Costa, F, and da Costa, J. (2007) The impact of periodontal disease on the quality of life of individuals with Down syndrome. Down Syndrome Research and Practice, 12(1), 50-54.


Down Syndrome Research and Practice 12(3)

Verbal and non-verbal requests in Spanish speaking children with Down syndrome

Donna Jackson-Maldonado, Bertha Badillo, and Nancy Aguilar

Children with Down syndrome have been described to have language, social-communicative and intentional skills that lag behind age-matched peers, with frequent gesture use that is not accompanied by vocalisations or words. Early intentional communication, particularly requests, has been shown to be an important step in future language development. This is a preliminary study that explores the use of verbal and non-verbal requests in 4 Spanish-speaking children with Down syndrome from very low income families. Children were observed in an elicited request task and language level was evaluated using a parental report. Results showed that all participants were very delayed in their language production. Children used mostly combinations of non-verbal requests. Data support previous studies in that Spanish-speaking children also use non-verbal requests for a prolonged period of time as a strategy to compensate for their linguistic deficits. Findings differ from previous studies in that most combinations of gestures were complementary and not equivalent. Their language development was much more depressed than most data published to date. This lag could be explained because children were from very low income environments and they may lack stimulation because of family situations. It is suggested that data from a larger sample be collected and compared to typically developing children in order to make a stronger proposal about the use of non-verbal forms as a bridge to verbal productions.

Jackson-Maldonado, D, Badillo, B, and Aguilar, N. (2010) Verbal and non-verbal requests in Spanish speaking children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Using photographs to scaffold literacy activities with young adults with Down syndrome

Karen Moni, and Anne Jobling

This article describes how photographs have been used in literacy activities for young adults with Down syndrome participating in a post-school literacy programme. We describe how the principled use of photographs in literacy teaching can: scaffold literacy learning, specifically in the writing of stories and recounts; support writing about abstract concepts, and support extended autobiographical writing with learners who have diverse literacy strengths and needs. Photographs are intrinsically interesting resources for developing literacy because they are actual representations of important known events in young adults' lives. Thus in talking and writing about photographs, these young adults are motivated to construct extended texts that have relevance to their own lives. The learners' developed written texts can be used as more accessible reading material.

Moni, K, and Jobling, A. (2010) Using photographs to scaffold literacy activities with young adults with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.




Speech control in children with Down syndrome

Pete Howell

Two areas where speech fluency problems arise, the motor system and the speech-language interface, are described and their implications for characterising the dysfluencies made by children with Down syndrome are discussed. Research topics are identified and implications for the treatment of speech problems in children with Down syndrome are drawn.

Howell, P. (2010) Speech control in children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Literacy environments for children with Down syndrome: What's happening at home?

Anne van Bysterveldt, Gail Gillon, and Susan Foster-Cohen

This descriptive study investigated the home literacy environment of New Zealand children with Down syndrome. Participants were 85 children with Down syndrome enrolled in predominantly mainstream school programmes in years 1-8, who were aged between 5;4 (y; m) and 14;11 (M = 8;11, SD = 2;6), comprising an estimated 15% of children with Down syndrome in New Zealand primary education[1]. Survey data via questionnaire (modelled on Boudreau[2]), was gathered from participant's parents and targeted three broad themes including parents' priorities regarding literacy for their child with Down syndrome, ways in which the HLE of children with Down syndrome supports literacy development and the ways children with Down syndrome participate in literacy interactions. Results were analysed for all participants and by age group which are presented when group differences were apparent. Results indicated the majority of parents are involved in regular literacy interactions with their child, although more with reading than with writing. Many children played an active role in joint reading activities, interacting with both pictures and text, although more with pictures than with text. Children were reported to use a wide range of writing materials. Parents also reported other ways in which they facilitated literacy development including active teaching, language games and library visits. Clinical implications for parents and professionals working with children with Down syndrome are discussed with reference to relationships between HLE variables and positive literacy outcomes and provide support for the development of targeted interventions specifically aimed at facilitating literacy with this population.

van Bysterveldt, A, Gillon, G, and Foster-Cohen, S. (2010) Literacy environments for children with Down syndrome: What's happening at home?. Down Syndrome Research and Practice, 12(2), 98-102.


Investigating free software for children with Down syndrome

Bob Black

The use of ICT as an aid to learning has been an integral part of special education for over 20 years in the UK. During this time software resources have developed that are particularly relevant to the learning profile of this group of learners. As access to computers and the Internet becomes cheaper and more available, the 'Digital Divide' gets smaller as more homes have access to resources that enhance the lives and learning of traditionally more isolated groups. While more able users have access to a whole host of free to use activities both on the computer and increasingly 'On Line', young people with cognitive and motor difficulties can struggle to find 'user friendly' resources that meet their needs. This simple investigation brings together information on free resources that tackle this problem and make available a range of educational and leisure opportunities that are more likely meet the individual needs of a range of young people with Down syndrome.

Black, B. (2010) Investigating free software for children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Electropalatography in the assessment and treatment of speech difficulties in children with Down syndrome

Sara Wood

Many children with Down syndrome experience significant speech difficulties which in turn affects their speech intelligibility. This paper describes how electropalatography, a computer-based technique which uses visual feedback to alter speech production, is being used at Queen Margaret University, to assess and treat speech difficulties in a group of children and young people with Down syndrome. Encouraging results from a single case are reported.

Wood, S. (2010) Electropalatography in the assessment and treatment of speech difficulties in children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


A preliminary study of intervention addressing early developing requesting behaviours in young infants with Down syndrome

Emily Jones, Kathleen Feeley, and Catherine Blackburn

Infants with Down syndrome display characteristic deficits in early communicative behaviours, including requesting. This deficit significantly and negatively impacts later communication and cognitive development. In this study, we explored intervention to address requesting in young infants with Down syndrome. Two infants with Down syndrome were taught increasingly sophisticated forms of early requesting skills (i.e., gaze shifting and gaze shifting paired with vocalisation). One of the infants was also taught a verbal approximation of the word "more". The application of interventions to address and prevent impairments characteristic of the behavioural phenotype demonstrated by infants and children with Down syndrome is discussed.

Jones, E, Feeley, K, and Blackburn, C. (2010) A preliminary study of intervention addressing early developing requesting behaviours in young infants with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.



The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism

Kamil Hozyasz, Beata Pyrzak, and Marta Szymanska

The incidence of immune mediated diseases and hormonal disturbances is increased in people with Down syndrome. However, there are only three published reports of the coexistence of thyroid disorder, insulin dependent diabetes mellitus and coeliac disease in children with Down syndrome. Here we describe a young male with Down syndrome who was diagnosed with congenital hypothyroidism, diabetes mellitus, and coeliac disease. The role of serological screening for coeliac disease in children with Down syndrome is discussed.

Hozyasz, K, Pyrzak, B, and Szymanska, M. (2010) The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism. Down Syndrome Research and Practice, 12(2), 98-102.


Autoimmunity puzzle in Down syndrome

Corin Badiu, Simona Verzea, Maria Picu, and Cornelia Pencea

One of the most common genetic abnormalities, Down syndrome is associated with intellectual disabilities as well as increased incidence of autoimmune diseases. Endocrine disorders, such as diabetes and thyroid dysfunction are amongst the most common. We describe the case of a 27 year old woman diagnosed with diabetes at the age of 9, who had associated crises of loss of consciousness from the age of 23 and developed primary autoimmune hypothyroidism from the age of 25 years with chronic pericardial effusion. Neurological examination considered the diagnosis of absence crises; therefore she started taking Carbamazepine 400 mg daily since the age of 23. At admission, the patient was obese (BMI =32 kg/m2), with neck localised acanthosis nigricans. The clinical examination revealed signs of hypothyroidism without goitre. Diagnosis was confirmed by TSH = 350 mUI/L, anti TPOAb = 329.9 U/ml as well as pericardial effusion on echocardiography. She started thyroxine replacement therapy, while being on basal/bolus insulin regimen (short and intermediate acting insulin). Full control of diabetes was not achieved until she also received metformin and basal insulin analog. TSH level reached normal values of 2.4 mU/L only after a LT4 substitution dose of 150 µg daily. Evolution of thyroid status and diabetes under progressive thyroxine substitutive treatment is discussed. Compliance to diet, diabetes and myxoedema treatment is severely influenced by her intellectual disabilities. Screening for thyroid status and autoimmunity in order to detect subclinical hypothyroidism, should be performed in patients with Down syndrome.

Badiu, C, Verzea, S, Picu, M, and Pencea, C. (2010) Autoimmunity puzzle in Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Report of Research Directions Symposium

Sue Buckley

A report of the first meeting of the Down Syndrome Research Directions Symposium, held in October 2007. The symposium, hosted by Down Syndrome Education International in Portsmouth, brought together a multi-disciplinary team of 80 leading scientists and practitioners from across the world with the aim of reviewing current understanding, identifying and prioritising future research, and identifying best practice in care.

Buckley, S. (2009) Report of Research Directions Symposium. Down Syndrome Research and Practice, 12(3), 185-187.



The importance of evidence-based practice

Sue Buckley

This editorial discusses the ways in which evidence-based practice should be developed and evaluated, from first hypotheses to gold standard 'blind' randomised control trials but also acknowledges that parents, educators and therapists usually have to make decisions on how to best help children with Down syndrome in the absence of this evidence. Guidance is offered on the ways in which new therapies can be evaluated, arguing strongly for objective evaluations and the avoidance of unproven and scientifically implausible approaches.

Buckley, S. (2009) The importance of evidence-based practice. Down Syndrome Research and Practice, 12(3), 165-167.


The effects of early auditory deprivation - insights from children with cochlear implants

Michèle Pettinato

This update explores the importance of early auditory stimulation by considering the development of speech processing skills in profoundly deaf children who have received a cochlear implant. This literature is relevant to issues affecting children with Down syndrome, because like them, children with cochlear implants have hearing difficulties, but unlike the former, they do not have oral-motor issues.

Pettinato, M. (2009) The effects of early auditory deprivation - insights from children with cochlear implants. Down Syndrome Research and Practice, 12(3), 176-178.


Down Syndrome and golf

Victor Bishop

Around age 10, if not hopefully way before, parents with a child with Down syndrome make the transition from therapy to sports and recreation; from aquatic therapy to swimming; from hippotherapy to horseback riding. It was readily apparent from Emmanuel's first golf range practice that he had an innate ability to swing a golf club. It is in his genes. He is at a disadvantage with his typically developing peers that his father has never wielded a golf club in his life.

Bishop, V. (2009) Down Syndrome and golf. Down Syndrome Research and Practice, 12(3), 248-249.




Modelling Down syndrome

Frank Buckley

Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down syndrome, and may one day point to useful ways to improve quality of life for people living with Down syndrome.

Buckley, F. (2008) Modelling Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.




Wrongful deaths and rightful lives - screening for Down syndrome

Frank Buckley, and Sue Buckley

Prenatal screening for Down syndrome affects millions of pregnancies every year worldwide. The vast majority of screen-positive results are false, yet encourage invasive diagnostic procedures that pose additional risks to unborn babies. As a direct consequence many babies who do not have Down syndrome are lost. We estimate that current screening practice in England and Wales reduces annual live births of babies with Down syndrome by around 660 and leads to the losses of 400 babies without Down syndrome. Although prenatal diagnoses are becoming more frequent, more babies with Down syndrome are being born (up 25% over 15 years). Considerable attention has been given to studying the performance of competing screening techniques, yet relatively little attention has been given to the consequences for the psychological and physical wellbeing of all parents and their babies. Meanwhile, quality of life for people with Down syndrome continues to improve. In many countries, people with Down syndrome are living longer and achieving more than ever before. The authors urge policymakers to note that the live birth prevalence of Down syndrome continues to rise and that average life expectancy is now approaching 60 years. Accordingly, research and practice priorities should shift from prevention to improving care, education and support for a growing and ageing population. We suggest that policies permitting genetic screening for mental or physical abilities should be reviewed through wide public debate before new prenatal diagnosis and genome sequencing technologies become more readily available.

Buckley, F, and Buckley, S. (2008) Wrongful deaths and rightful lives - screening for Down syndrome. Down Syndrome Research and Practice, 12(2), 79-86.


Folate metabolism and the risk of Down syndrome

David Patterson

Folate is an important vitamin that contributes to cell division and growth and is therefore of particular importance during infancy and pregnancy. Folate deficiency has been associated with slowed growth, anaemia, weight loss, digestive disorders and some behavioural issues. Adequate folate intake around the time of conception and early pregnancy can reduce the risk of certain problems including neural tube defects. It has been suggested that certain versions (polymorphisms) of some genes can increase the risk of conceiving a baby with Down syndrome. If this is the case, then people with Down syndrome may be more likely to carry these forms of these genes and to experience associated problems in folate metabolism. Studies to date have found conflicting results, suggesting that these gene variants may be part of a more complex picture. In this issue, a further study reports no association between the presence of a common polymorphism of one of these genes and the risk of having a child with Down syndrome among mothers of Northern Indian origin. This article reviews these challenging findings and looks at where investigations can now go to resolve these issues.

Patterson, D. (2008) Folate metabolism and the risk of Down syndrome. Down Syndrome Research and Practice, 12(2), 93-97.


Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires

Kathleen Feeley, and Emily Jones

Several characteristics associated with the Down syndrome behavioural phenotype as well as biological factors are likely to increase the presence of challenging behaviour in individuals with Down syndrome. The application of evidenced based strategies assessing and addressing challenging behaviours in individuals with developmental disabilities can be systematically applied to address such behaviours in individuals with Down syndrome. Additionally, evidence based strategies can be systematically implemented by caregivers of very young children with Down syndrome to address early communication skills (requesting, vocal imitation), escape behaviours, and self stimulatory behaviour thus diminishing early developing behaviours likely to lead to more significant challenges as the child with Down syndrome matures.

Feeley, K, and Jones, E. (2008) Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires. Down Syndrome Research and Practice, 12(1), 11-14.



Motherhood and genetic screening: a personal perspective

Fiona Place

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images of 'successful' birth outcomes showcasing the importance of their work. Unsurprisingly this has lead to women being expected to take control - from timing a pregnancy to choosing one particular pregnancy over another - they are to improve their lives and the health of their offspring. But are these developments all 'good' news? Is it safe to assume the push to achieve better birth outcomes and the concomitant use of prenatal testing automatically improves lives? Could it be the issues raised are causing some lives to become harder? How meaningful, for example, are tests such as amniocentesis and CVS? As the mother of a child with Down syndrome I believe it is important for myself and other women in similar situations to share their lived experience. Perhaps we can illuminate some of the more complex and troubling issues these technological advances have the capacity to create - not only for ourselves - but for all women.

Place, F. (2007) Motherhood and genetic screening: a personal perspective. Down Syndrome Research and Practice, 12(2), 118-126.


Handling the transfer to secondary school

Elaine Bull

The transfer to secondary education can be an anxious time and planning ahead can help. This article offers practical advice about what to consider, when to start planning and discusses many of the issues involved in the transition to later schooling. Written from the perspective of the English school system, many of the issues and principles are broadly applicable.

Bull, E. (2007) Handling the transfer to secondary school. Down Syndrome Research and Practice, 12(2), 112-117.


Special at school but lonely at home: An alternative friendship group for adolescents with Down syndrome

Jeanne D'Haem

Friends play a significant role in mental and physical health; however, individuals with Down syndrome and other developmental disabilities, even those who are included in general education programmes, have not developed friendships as hoped. After a decade of inclusion and structured school programmes to facilitate friendships, many parents report that peer relationships end after school hours. This study compared the efficacy of school based friendship groups with a mixed age home based group. Specific methods to establish a successful friendship group are discussed. This study followed three friendship groups for five years. Two groups of six to eight general education students met with the target student twice a month during the school day; one group of mixed age participants met in the student's home. A counsellor facilitated all the groups. Parent and student concerns regarding friendships were informally assessed with interviews and observations. Observations and interviews confirmed that although peer interactions during school occurred they did not continue after school. Of the three students studied, only one had a relationship with a same-aged peer after four years of school facilitated groups. Two students had significant feelings of depression during high school. One student entered counselling. The home-based mixed age friendship group did result in significant friendships. The individual participated in two or three activities each month with friends from the group. School based friendship groups of adolescent peers were not successful in developing friendships for individuals with Down syndrome. When a multi-age group was conducted outside of the school, friendships formed and have continued for over two years. This article describes how and why parents and professionals should look beyond school based same age peer friendship groups and consider a community circle of mixed-age friends.

D'Haem, J. (2007) Special at school but lonely at home: An alternative friendship group for adolescents with Down syndrome. Down Syndrome Research and Practice, 12(2), 107-111.


Medical conditions and medication use in adults with Down syndrome: A descriptive analysis

Gerard Kerins, Kimberly Petrovic, Mary Bruder, and Cynthia Gruman

Background: We examined the presence of medical conditions and medication use within a sample of adults with Down syndrome. Methods: Retrospective chart review using a sample of 141 adults with Down syndrome and age range of 30 to 65 years. Results: We identify 23 categories of commonly occurring medical conditions and 24 categories of medications used by adults with Down syndrome. Conclusion: Approximately 75 of older adults with Down syndrome in our sample experience memory loss and dementia. Hypothyroidism, seizures, and skin problems also occur commonly. The prevalence of cancer (i.e., solid tumours) and hypertension is extremely low. Older adults with Down syndrome use anticonvulsant more often than younger adults with Down syndrome. The use of multivitamins and medications such as pain relievers, prophylactic antibiotics, and topical ointments is common.

Kerins, G, Petrovic, K, Bruder, M, and Gruman, C. (2007) Medical conditions and medication use in adults with Down syndrome: A descriptive analysis. Down Syndrome Research and Practice, 12(2), 141-147.


Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome

Utkarsh Kohli, Sadhna Arora, Madhulika Kabra, Lakshmy Ramakrishnan, Sheffali Gulati, and Ravindra Pandey

Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study examined the prevalence of the MTHFR C677T polymorphism among 104 north Indian mothers of babies with Down syndrome and 109 control mothers. The prevalence of MTHFR C677T polymorphism observed among mothers of babies with Down syndrome was 28% compared to 35% in controls (C677T/T677T). There was no significant difference between the two groups (p = 0.294). Mean homocysteine level in mothers of children with Down syndrome was lower than the level in the controls. Our data suggests that the MTHFR C677T polymorphism is not associated with an increased risk of Down syndrome in the north Indian population. Homocysteine levels in our study were higher when compared to other studies. Methylcobolamin and folate deficiency or use of random samples for homocysteine determination could possibly account for this observation.

Kohli, U, Arora, S, Kabra, M, Ramakrishnan, L, Gulati, S, and Pandey, R. (2007) Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down Syndrome Research and Practice, 12(2), 133-137.


Medical issues among children and teenagers with Down syndrome in Hong Kong

Winnie Yam, Philomena Tse, Chak Yu, Chun Chow, Wai But, Kit Li, Lai Lee, Eva Fung, Pauline Mak, and Joseph Lau

We examined the prevalence of medical problems in children and teenagers with Down syndrome in Hong Kong. Methods: Children with Down syndrome receiving care from seven regional hospitals were included and their hospital records were reviewed. A total of 407 patients, aged between 0.06 and 17.16 years were included. Cardiovascular problems were observed in 216 (53%), endocrine problems in 111 (27%), gastrointestinal problems in 46 (11%), haematological problems in 18 (4%), neurological problems in 27 (7%), sleep problems in 36 (9%), skeletal problems in 56 (14%), visual problems in 195 (48%) and auditory problems in 137 (34%). Conclusions: The prevalence of medical problems was high in children and teenagers with Down syndrome in Hong Kong and similar to previous findings elsewhere. Future studies on the local prevalence of medical problems in the adult population with Down syndrome would help to define their medical needs.

Yam, W, Tse, P, Yu, C, Chow, C, But, W, Li, K, Lee, L, Fung, E, Mak, P, and Lau, J. (2007) Medical issues among children and teenagers with Down syndrome in Hong Kong. Down Syndrome Research and Practice, 12(2), 138-140.



Teaching numeracy

Sue Buckley

Understanding number concepts and basic mathematical skills is important for many everyday activities in modern societies. Little is understood about the numeracy abilities of people with Down syndrome. At present, it appears that numeracy is an area of relative difficulty and that progress with more complex mathematical understanding is slow. However, some teaching approaches that seek to utilise certain relative strengths to communicate number concepts seem to be useful in practice. Further research is needed to define the precise difficulties experienced by children with Down syndrome and to evaluate teaching strategies.

Buckley, S. (2007) Teaching numeracy. Down Syndrome Research and Practice, 12(1), 11-14.



Sam's progress with learning mathematics

Lynne Haslam

Sam is 18 years old and has Down syndrome. He achieved a grade in the standard assessment of mathematics (GCSE) at 16 years of age. This paper describes the part played in his success in school by the Kumon method of teaching mathematics, identifies the benefits of the small steps and lots of practice built in to the method and illustrates the way Sam applied his Kumon learning in school.

Haslam, L. (2007) Sam's progress with learning mathematics. Down Syndrome Research and Practice, 12(1), 32-33.



Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome

Folakemi Oredugba

Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age group, sex and educational background of parents. Result: Participants with Down syndrome had poorer oral hygiene than controls, with no significant sex difference. Oral hygiene was similar in the lower age groups but deteriorated with age in the Down syndrome group. Conclusion: Individuals with Down syndrome in Nigeria have poorer oral health and more treatment needs than controls. They would benefit from frequent oral health assessment.

Oredugba, F. (2007) Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome. Down Syndrome Research and Practice, 12(1), 72-76.


New and old directions

Frank Buckley

Improved social and educational opportunities and access to informed healthcare are helping today's generations of people with Down syndrome to achieve more and live longer. This progress is bringing new challenges. Scientific research is steadily improving our understanding of the condition. Future improvements in the lives of people with Down syndrome will require multidisciplinary efforts and more applied or translational research with practical outcomes. In this context, this journal has reviewed the roles it plays in communicating research to specialists and non-specialists, families, practitioners and researchers alike.

Buckley, F. (2007) New and old directions. Down Syndrome Research and Practice, 12(1), 1-4.


Katrina's progress with learning mathematics

Jan McConnochie, and Greg Sneath

Katrina is 10 years old and has Down syndrome. She is making good progress with learning and numbers and mathematics. We describe how Katrina has learned number concepts and arithmetic skills over several years. We highlight the influence of early learning habits, visual supports, motivation and practice, and the uses made of different number teaching schemes.

McConnochie, J, and Sneath, G. (2007) Katrina's progress with learning mathematics. Down Syndrome Research and Practice, 12(1), 34-37.


Increasing opportunities for physical activity

Sue Buckley

Being physically active can have a number of benefits - having fun, meeting with friends, keeping healthy and experiencing success. For children with Down syndrome the foundations need to be laid early if they are to keep active in school, teenage and adult years and parents ask for more help in this area from professionals.

Buckley, S. (2007) Increasing opportunities for physical activity. Down Syndrome Research and Practice, 12(1), 18-19.


Early Intervention in Vietnam

Marja Hodes

This essay describes the setting up of early intervention services in Vietnam. From the outset, there was a focus on developing staff training programmes alongside establishing model early intervention programmes to ensure that the work would be sustained at the end of the project funding and spread throughout the country. The success of this work has now led to the government of Vietnam wanting to move to the next stage and to begin to develop training for full inclusion of children with disabilities in the school system.

Hodes, M. (2007) Early Intervention in Vietnam. Down Syndrome Research and Practice, 12(1), 38-41.


Drug treatment improves memory in mice

Frank Buckley, and Ben Sacks

Mice that carry additional copies of genes comparable to those present on human chromosome 21 have been shown to perform better on memory tests when treated with drugs that target brain function. Could this be an important break-through in the search for pharmacological therapies to assist people with Down syndrome?

Buckley, F, and Sacks, B. (2007) Drug treatment improves memory in mice. Down Syndrome Research and Practice, 12(1), 20-21.


Down syndrome in the neurology clinic: Too much? Too little? Too late?

Andrew Larner

This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in > 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in 6 patients. Only one new, comorbid, diagnosis was made. Neurologists have little exposure to, and hence little chance to develop expertise in, the neurological complications of Down syndrome. It is suggested that closer liaison between neurologists and psychiatrists with an interest in learning disability might improve the management of neurological problems in patients with Down syndrome.

Larner, A. (2007) Down syndrome in the neurology clinic: Too much? Too little? Too late?. Down Syndrome Research and Practice, 12(1), 69-71.




Teaching spontaneous responses to a young child with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.

Feeley, K, and Jones, E. (2007) Teaching spontaneous responses to a young child with Down syndrome. Down Syndrome Research and Practice, 12(2), 148-152.


Strategies to address challenging behaviour in young children with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may present problems within community, leisure, and educational settings, and, in many instances, precludes them from accessing these environments. Factors contributing to the occurrence of challenging behaviours include characteristics associated with the Down syndrome behavioural phenotype, increased incidence of illness and sleep disorders, and the way in which individuals in their environment respond to their behaviours. In this paper we describe the use of behaviourally based intervention strategies to address some of the specific challenges often seen in young children with Down syndrome. Through a series of case studies, the effectiveness of evidence-based interventions addressing challenging behaviour is demonstrated.

Feeley, K, and Jones, E. (2007) Strategies to address challenging behaviour in young children with Down syndrome. Down Syndrome Research and Practice, 12(2), 153-163.




Prevalence of bruxism among Mexican children with Down syndrome

Rubén López-Pérez, Patricia López-Morales, Borges-Yáñez, Gerardo Maupomé, and Gustavo Parés-Vidrio

This study sought to determine the prevalence of bruxism in a Mexican community of children with Down syndrome, and to evaluate bruxism's relationship with age, sex, intellectual disability level, and type of chromosomal abnormality of trisomy 21. Using a cross-sectional design, 57 boys and girls (3 to 14 years old) were examined. Three approaches to establish presence or absence of bruxism were employed: parental questionnaire, clinical examination, and dental study casts. Data were analysed using bivariate analyses and conditional logistic regression. We found that the overall prevalence of bruxism was 42%. No statistically significant associations between bruxism and age, sex, or intellectual disability level were found. There was, however, a significant association between bruxism and type of chromosomal abnormality, with mosaicism being more frequently associated with bruxism.

López-Pérez, R, López-Morales, P, Borges-Yáñez, Maupomé, G, and Parés-Vidrio, G. (2007) Prevalence of bruxism among Mexican children with Down syndrome. Down Syndrome Research and Practice, 12(1), 45-49.


Parents' perceptions of health and physical activity needs of children with Down syndrome

Kristi Menear

Individuals with Down syndrome typically have low fitness levels and obesity despite data that indicate physiological gains from physical activity and exercise interventions. Low fitness levels and obesity in individuals with Down syndrome may be related to sedentary lifestyles, social and recreational opportunities, or low motivation to be physically active. These causal influences on the overall health of individuals with Down syndrome may be related to parental or caregiver support. Through this study, parents of children with Down syndrome from preschool to adolescent ages were interviewed about their perceptions of the health and physical activity needs of their children. Data from four focus groups indicated the following most salient themes: (1) all parents believed participation in physical activity has immediate and long-term positive health impacts on their child with Down syndrome, and most of the parents thought their child would benefit from being more physically active, (2) most parents observed that their child participated in physical activities primarily for social reasons, most notably to be with their peers with or without Down syndrome or to be with their sibling(s), and that without such motivation their child would choose sedentary activities, (3) parents of teenagers identified a need for their child to learn an individual sport to have sporting opportunities that do not require ability-matched teammates and opponents, and (4) parents recognised their need for help from physical activity specialists through either parent education regarding home-based physical activity programmes or an increase in appropriate community-based physical activity programmes for their child with Down syndrome. The interview data suggest future research should evaluate the outcomes of long-term individualised home-based physical activity interventions for children with Down syndrome. Additionally, educators, recreation specialists, and therapists should assist children and youth with their acquisition of skills used in individual and dual sports.

Menear, K. (2007) Parents' perceptions of health and physical activity needs of children with Down syndrome. Down Syndrome Research and Practice, 12(1), 60-68.


Metric analysis of the hard palate in children with Down syndrome - a comparative study

Gopalan Bhagyalakshmi, Annappa Renukarya, and Sayee Rajangam

The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed misaligned teeth and a large and fissured tongue. As a result good palato-lingual contact is not achieved, with resulting defective articulation. Using orthodontic and prosthodontic principles could modify this situation, i.e. the anatomy of the hard palate. The altered palatal contour may give better placing to the tongue, leading to improved palato-lingual contact and articulation. The dimensional parameters measured were: average linear width (AVL), average curvilinear width (AVCL), average height (AVH) at different planes; average antero-posterior length (AAP), average volume (V), palatal arch length (PAL), and palatal index (PI). The findings were compared with those of controls of the same age and sex. The AVL, AVCL, AAP, PAL, V and PI values of patients with Down syndrome were found to be less than the corresponding values of controls and the average height values of patients with Down syndrome were greater than the corresponding values of controls. Statistical significance was observed in all measurements between the controls and the patients with Down syndrome, especially in those concerning the height and the volume of the oral cavity. Observations from this study have suggested that prostheses might be designed to modify the palatal anatomy and produce better articulation in people with Down syndrome.

Bhagyalakshmi, G, Renukarya, A, and Rajangam, S. (2007) Metric analysis of the hard palate in children with Down syndrome - a comparative study. Down Syndrome Research and Practice, 12(1), 55-59.


The impact of periodontal disease on the quality of life of individuals with Down syndrome

Ana Loureiro, Fernando Costa, and José da Costa

Objective: This study aimed to determine the prevalence of periodontal disease among children and adolescents with Down syndrome and the possible repercussions of such pathology in the quality of life of the group in question. Method: The sample consists of 93 individuals with Down syndrome 6 - 20 years old, living in Brazil (Minas Gerais). Periodontal probing was carried out on every site of each tooth. The Plaque Index and periodontal clinical parameters were recorded. A broad interview was carried out with the mothers, consisted of an adaptation of the Oral Health Impact File OHIP-14 that was used to measure the negative repercussions of periodontal disease in the daily lives of these individuals. Results: The prevalence of gingivitis was 91%, whereas periodontitis was found in 33% of the individuals. When the impact of periodontal disease on the quality of life was correlated with the clinical periodontal parameters, it was observed that there are significant statistical differences among them: bleeding on probing, probing depth and attachment loss. These same results, correlated with all the different groups that are categorised according to the diagnosis of periodontal disease, also show significant differences. Conclusions: Periodontal disease can be considered as a condition with high prevalence within the group in question, which has negative effects on the quality of life of the subjects. These effects are aggravated by the seriousness of the disease.

Loureiro, A, Costa, F, and da Costa, J. (2007) The impact of periodontal disease on the quality of life of individuals with Down syndrome. Down Syndrome Research and Practice, 12(1), 50-54.


Down Syndrome Research and Practice 12(1)

Verbal and non-verbal requests in Spanish speaking children with Down syndrome

Donna Jackson-Maldonado, Bertha Badillo, and Nancy Aguilar

Children with Down syndrome have been described to have language, social-communicative and intentional skills that lag behind age-matched peers, with frequent gesture use that is not accompanied by vocalisations or words. Early intentional communication, particularly requests, has been shown to be an important step in future language development. This is a preliminary study that explores the use of verbal and non-verbal requests in 4 Spanish-speaking children with Down syndrome from very low income families. Children were observed in an elicited request task and language level was evaluated using a parental report. Results showed that all participants were very delayed in their language production. Children used mostly combinations of non-verbal requests. Data support previous studies in that Spanish-speaking children also use non-verbal requests for a prolonged period of time as a strategy to compensate for their linguistic deficits. Findings differ from previous studies in that most combinations of gestures were complementary and not equivalent. Their language development was much more depressed than most data published to date. This lag could be explained because children were from very low income environments and they may lack stimulation because of family situations. It is suggested that data from a larger sample be collected and compared to typically developing children in order to make a stronger proposal about the use of non-verbal forms as a bridge to verbal productions.

Jackson-Maldonado, D, Badillo, B, and Aguilar, N. (2010) Verbal and non-verbal requests in Spanish speaking children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Using photographs to scaffold literacy activities with young adults with Down syndrome

Karen Moni, and Anne Jobling

This article describes how photographs have been used in literacy activities for young adults with Down syndrome participating in a post-school literacy programme. We describe how the principled use of photographs in literacy teaching can: scaffold literacy learning, specifically in the writing of stories and recounts; support writing about abstract concepts, and support extended autobiographical writing with learners who have diverse literacy strengths and needs. Photographs are intrinsically interesting resources for developing literacy because they are actual representations of important known events in young adults' lives. Thus in talking and writing about photographs, these young adults are motivated to construct extended texts that have relevance to their own lives. The learners' developed written texts can be used as more accessible reading material.

Moni, K, and Jobling, A. (2010) Using photographs to scaffold literacy activities with young adults with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.




Speech control in children with Down syndrome

Pete Howell

Two areas where speech fluency problems arise, the motor system and the speech-language interface, are described and their implications for characterising the dysfluencies made by children with Down syndrome are discussed. Research topics are identified and implications for the treatment of speech problems in children with Down syndrome are drawn.

Howell, P. (2010) Speech control in children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Literacy environments for children with Down syndrome: What's happening at home?

Anne van Bysterveldt, Gail Gillon, and Susan Foster-Cohen

This descriptive study investigated the home literacy environment of New Zealand children with Down syndrome. Participants were 85 children with Down syndrome enrolled in predominantly mainstream school programmes in years 1-8, who were aged between 5;4 (y; m) and 14;11 (M = 8;11, SD = 2;6), comprising an estimated 15% of children with Down syndrome in New Zealand primary education[1]. Survey data via questionnaire (modelled on Boudreau[2]), was gathered from participant's parents and targeted three broad themes including parents' priorities regarding literacy for their child with Down syndrome, ways in which the HLE of children with Down syndrome supports literacy development and the ways children with Down syndrome participate in literacy interactions. Results were analysed for all participants and by age group which are presented when group differences were apparent. Results indicated the majority of parents are involved in regular literacy interactions with their child, although more with reading than with writing. Many children played an active role in joint reading activities, interacting with both pictures and text, although more with pictures than with text. Children were reported to use a wide range of writing materials. Parents also reported other ways in which they facilitated literacy development including active teaching, language games and library visits. Clinical implications for parents and professionals working with children with Down syndrome are discussed with reference to relationships between HLE variables and positive literacy outcomes and provide support for the development of targeted interventions specifically aimed at facilitating literacy with this population.

van Bysterveldt, A, Gillon, G, and Foster-Cohen, S. (2010) Literacy environments for children with Down syndrome: What's happening at home?. Down Syndrome Research and Practice, 12(2), 98-102.


Investigating free software for children with Down syndrome

Bob Black

The use of ICT as an aid to learning has been an integral part of special education for over 20 years in the UK. During this time software resources have developed that are particularly relevant to the learning profile of this group of learners. As access to computers and the Internet becomes cheaper and more available, the 'Digital Divide' gets smaller as more homes have access to resources that enhance the lives and learning of traditionally more isolated groups. While more able users have access to a whole host of free to use activities both on the computer and increasingly 'On Line', young people with cognitive and motor difficulties can struggle to find 'user friendly' resources that meet their needs. This simple investigation brings together information on free resources that tackle this problem and make available a range of educational and leisure opportunities that are more likely meet the individual needs of a range of young people with Down syndrome.

Black, B. (2010) Investigating free software for children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Electropalatography in the assessment and treatment of speech difficulties in children with Down syndrome

Sara Wood

Many children with Down syndrome experience significant speech difficulties which in turn affects their speech intelligibility. This paper describes how electropalatography, a computer-based technique which uses visual feedback to alter speech production, is being used at Queen Margaret University, to assess and treat speech difficulties in a group of children and young people with Down syndrome. Encouraging results from a single case are reported.

Wood, S. (2010) Electropalatography in the assessment and treatment of speech difficulties in children with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


A preliminary study of intervention addressing early developing requesting behaviours in young infants with Down syndrome

Emily Jones, Kathleen Feeley, and Catherine Blackburn

Infants with Down syndrome display characteristic deficits in early communicative behaviours, including requesting. This deficit significantly and negatively impacts later communication and cognitive development. In this study, we explored intervention to address requesting in young infants with Down syndrome. Two infants with Down syndrome were taught increasingly sophisticated forms of early requesting skills (i.e., gaze shifting and gaze shifting paired with vocalisation). One of the infants was also taught a verbal approximation of the word "more". The application of interventions to address and prevent impairments characteristic of the behavioural phenotype demonstrated by infants and children with Down syndrome is discussed.

Jones, E, Feeley, K, and Blackburn, C. (2010) A preliminary study of intervention addressing early developing requesting behaviours in young infants with Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.



The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism

Kamil Hozyasz, Beata Pyrzak, and Marta Szymanska

The incidence of immune mediated diseases and hormonal disturbances is increased in people with Down syndrome. However, there are only three published reports of the coexistence of thyroid disorder, insulin dependent diabetes mellitus and coeliac disease in children with Down syndrome. Here we describe a young male with Down syndrome who was diagnosed with congenital hypothyroidism, diabetes mellitus, and coeliac disease. The role of serological screening for coeliac disease in children with Down syndrome is discussed.

Hozyasz, K, Pyrzak, B, and Szymanska, M. (2010) The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism. Down Syndrome Research and Practice, 12(2), 98-102.


Autoimmunity puzzle in Down syndrome

Corin Badiu, Simona Verzea, Maria Picu, and Cornelia Pencea

One of the most common genetic abnormalities, Down syndrome is associated with intellectual disabilities as well as increased incidence of autoimmune diseases. Endocrine disorders, such as diabetes and thyroid dysfunction are amongst the most common. We describe the case of a 27 year old woman diagnosed with diabetes at the age of 9, who had associated crises of loss of consciousness from the age of 23 and developed primary autoimmune hypothyroidism from the age of 25 years with chronic pericardial effusion. Neurological examination considered the diagnosis of absence crises; therefore she started taking Carbamazepine 400 mg daily since the age of 23. At admission, the patient was obese (BMI =32 kg/m2), with neck localised acanthosis nigricans. The clinical examination revealed signs of hypothyroidism without goitre. Diagnosis was confirmed by TSH = 350 mUI/L, anti TPOAb = 329.9 U/ml as well as pericardial effusion on echocardiography. She started thyroxine replacement therapy, while being on basal/bolus insulin regimen (short and intermediate acting insulin). Full control of diabetes was not achieved until she also received metformin and basal insulin analog. TSH level reached normal values of 2.4 mU/L only after a LT4 substitution dose of 150 µg daily. Evolution of thyroid status and diabetes under progressive thyroxine substitutive treatment is discussed. Compliance to diet, diabetes and myxoedema treatment is severely influenced by her intellectual disabilities. Screening for thyroid status and autoimmunity in order to detect subclinical hypothyroidism, should be performed in patients with Down syndrome.

Badiu, C, Verzea, S, Picu, M, and Pencea, C. (2010) Autoimmunity puzzle in Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.


Report of Research Directions Symposium

Sue Buckley

A report of the first meeting of the Down Syndrome Research Directions Symposium, held in October 2007. The symposium, hosted by Down Syndrome Education International in Portsmouth, brought together a multi-disciplinary team of 80 leading scientists and practitioners from across the world with the aim of reviewing current understanding, identifying and prioritising future research, and identifying best practice in care.

Buckley, S. (2009) Report of Research Directions Symposium. Down Syndrome Research and Practice, 12(3), 185-187.



The importance of evidence-based practice

Sue Buckley

This editorial discusses the ways in which evidence-based practice should be developed and evaluated, from first hypotheses to gold standard 'blind' randomised control trials but also acknowledges that parents, educators and therapists usually have to make decisions on how to best help children with Down syndrome in the absence of this evidence. Guidance is offered on the ways in which new therapies can be evaluated, arguing strongly for objective evaluations and the avoidance of unproven and scientifically implausible approaches.

Buckley, S. (2009) The importance of evidence-based practice. Down Syndrome Research and Practice, 12(3), 165-167.


The effects of early auditory deprivation - insights from children with cochlear implants

Michèle Pettinato

This update explores the importance of early auditory stimulation by considering the development of speech processing skills in profoundly deaf children who have received a cochlear implant. This literature is relevant to issues affecting children with Down syndrome, because like them, children with cochlear implants have hearing difficulties, but unlike the former, they do not have oral-motor issues.

Pettinato, M. (2009) The effects of early auditory deprivation - insights from children with cochlear implants. Down Syndrome Research and Practice, 12(3), 176-178.


Down Syndrome and golf

Victor Bishop

Around age 10, if not hopefully way before, parents with a child with Down syndrome make the transition from therapy to sports and recreation; from aquatic therapy to swimming; from hippotherapy to horseback riding. It was readily apparent from Emmanuel's first golf range practice that he had an innate ability to swing a golf club. It is in his genes. He is at a disadvantage with his typically developing peers that his father has never wielded a golf club in his life.

Bishop, V. (2009) Down Syndrome and golf. Down Syndrome Research and Practice, 12(3), 248-249.




Modelling Down syndrome

Frank Buckley

Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down syndrome, and may one day point to useful ways to improve quality of life for people living with Down syndrome.

Buckley, F. (2008) Modelling Down syndrome. Down Syndrome Research and Practice, 12(2), 98-102.




Wrongful deaths and rightful lives - screening for Down syndrome

Frank Buckley, and Sue Buckley

Prenatal screening for Down syndrome affects millions of pregnancies every year worldwide. The vast majority of screen-positive results are false, yet encourage invasive diagnostic procedures that pose additional risks to unborn babies. As a direct consequence many babies who do not have Down syndrome are lost. We estimate that current screening practice in England and Wales reduces annual live births of babies with Down syndrome by around 660 and leads to the losses of 400 babies without Down syndrome. Although prenatal diagnoses are becoming more frequent, more babies with Down syndrome are being born (up 25% over 15 years). Considerable attention has been given to studying the performance of competing screening techniques, yet relatively little attention has been given to the consequences for the psychological and physical wellbeing of all parents and their babies. Meanwhile, quality of life for people with Down syndrome continues to improve. In many countries, people with Down syndrome are living longer and achieving more than ever before. The authors urge policymakers to note that the live birth prevalence of Down syndrome continues to rise and that average life expectancy is now approaching 60 years. Accordingly, research and practice priorities should shift from prevention to improving care, education and support for a growing and ageing population. We suggest that policies permitting genetic screening for mental or physical abilities should be reviewed through wide public debate before new prenatal diagnosis and genome sequencing technologies become more readily available.

Buckley, F, and Buckley, S. (2008) Wrongful deaths and rightful lives - screening for Down syndrome. Down Syndrome Research and Practice, 12(2), 79-86.


Folate metabolism and the risk of Down syndrome

David Patterson

Folate is an important vitamin that contributes to cell division and growth and is therefore of particular importance during infancy and pregnancy. Folate deficiency has been associated with slowed growth, anaemia, weight loss, digestive disorders and some behavioural issues. Adequate folate intake around the time of conception and early pregnancy can reduce the risk of certain problems including neural tube defects. It has been suggested that certain versions (polymorphisms) of some genes can increase the risk of conceiving a baby with Down syndrome. If this is the case, then people with Down syndrome may be more likely to carry these forms of these genes and to experience associated problems in folate metabolism. Studies to date have found conflicting results, suggesting that these gene variants may be part of a more complex picture. In this issue, a further study reports no association between the presence of a common polymorphism of one of these genes and the risk of having a child with Down syndrome among mothers of Northern Indian origin. This article reviews these challenging findings and looks at where investigations can now go to resolve these issues.

Patterson, D. (2008) Folate metabolism and the risk of Down syndrome. Down Syndrome Research and Practice, 12(2), 93-97.


Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires

Kathleen Feeley, and Emily Jones

Several characteristics associated with the Down syndrome behavioural phenotype as well as biological factors are likely to increase the presence of challenging behaviour in individuals with Down syndrome. The application of evidenced based strategies assessing and addressing challenging behaviours in individuals with developmental disabilities can be systematically applied to address such behaviours in individuals with Down syndrome. Additionally, evidence based strategies can be systematically implemented by caregivers of very young children with Down syndrome to address early communication skills (requesting, vocal imitation), escape behaviours, and self stimulatory behaviour thus diminishing early developing behaviours likely to lead to more significant challenges as the child with Down syndrome matures.

Feeley, K, and Jones, E. (2008) Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires. Down Syndrome Research and Practice, 12(1), 11-14.



Motherhood and genetic screening: a personal perspective

Fiona Place

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images of 'successful' birth outcomes showcasing the importance of their work. Unsurprisingly this has lead to women being expected to take control - from timing a pregnancy to choosing one particular pregnancy over another - they are to improve their lives and the health of their offspring. But are these developments all 'good' news? Is it safe to assume the push to achieve better birth outcomes and the concomitant use of prenatal testing automatically improves lives? Could it be the issues raised are causing some lives to become harder? How meaningful, for example, are tests such as amniocentesis and CVS? As the mother of a child with Down syndrome I believe it is important for myself and other women in similar situations to share their lived experience. Perhaps we can illuminate some of the more complex and troubling issues these technological advances have the capacity to create - not only for ourselves - but for all women.

Place, F. (2007) Motherhood and genetic screening: a personal perspective. Down Syndrome Research and Practice, 12(2), 118-126.


Handling the transfer to secondary school

Elaine Bull

The transfer to secondary education can be an anxious time and planning ahead can help. This article offers practical advice about what to consider, when to start planning and discusses many of the issues involved in the transition to later schooling. Written from the perspective of the English school system, many of the issues and principles are broadly applicable.

Bull, E. (2007) Handling the transfer to secondary school. Down Syndrome Research and Practice, 12(2), 112-117.


Special at school but lonely at home: An alternative friendship group for adolescents with Down syndrome

Jeanne D'Haem

Friends play a significant role in mental and physical health; however, individuals with Down syndrome and other developmental disabilities, even those who are included in general education programmes, have not developed friendships as hoped. After a decade of inclusion and structured school programmes to facilitate friendships, many parents report that peer relationships end after school hours. This study compared the efficacy of school based friendship groups with a mixed age home based group. Specific methods to establish a successful friendship group are discussed. This study followed three friendship groups for five years. Two groups of six to eight general education students met with the target student twice a month during the school day; one group of mixed age participants met in the student's home. A counsellor facilitated all the groups. Parent and student concerns regarding friendships were informally assessed with interviews and observations. Observations and interviews confirmed that although peer interactions during school occurred they did not continue after school. Of the three students studied, only one had a relationship with a same-aged peer after four years of school facilitated groups. Two students had significant feelings of depression during high school. One student entered counselling. The home-based mixed age friendship group did result in significant friendships. The individual participated in two or three activities each month with friends from the group. School based friendship groups of adolescent peers were not successful in developing friendships for individuals with Down syndrome. When a multi-age group was conducted outside of the school, friendships formed and have continued for over two years. This article describes how and why parents and professionals should look beyond school based same age peer friendship groups and consider a community circle of mixed-age friends.

D'Haem, J. (2007) Special at school but lonely at home: An alternative friendship group for adolescents with Down syndrome. Down Syndrome Research and Practice, 12(2), 107-111.


Medical conditions and medication use in adults with Down syndrome: A descriptive analysis

Gerard Kerins, Kimberly Petrovic, Mary Bruder, and Cynthia Gruman

Background: We examined the presence of medical conditions and medication use within a sample of adults with Down syndrome. Methods: Retrospective chart review using a sample of 141 adults with Down syndrome and age range of 30 to 65 years. Results: We identify 23 categories of commonly occurring medical conditions and 24 categories of medications used by adults with Down syndrome. Conclusion: Approximately 75 of older adults with Down syndrome in our sample experience memory loss and dementia. Hypothyroidism, seizures, and skin problems also occur commonly. The prevalence of cancer (i.e., solid tumours) and hypertension is extremely low. Older adults with Down syndrome use anticonvulsant more often than younger adults with Down syndrome. The use of multivitamins and medications such as pain relievers, prophylactic antibiotics, and topical ointments is common.

Kerins, G, Petrovic, K, Bruder, M, and Gruman, C. (2007) Medical conditions and medication use in adults with Down syndrome: A descriptive analysis. Down Syndrome Research and Practice, 12(2), 141-147.


Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome

Utkarsh Kohli, Sadhna Arora, Madhulika Kabra, Lakshmy Ramakrishnan, Sheffali Gulati, and Ravindra Pandey

Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study examined the prevalence of the MTHFR C677T polymorphism among 104 north Indian mothers of babies with Down syndrome and 109 control mothers. The prevalence of MTHFR C677T polymorphism observed among mothers of babies with Down syndrome was 28% compared to 35% in controls (C677T/T677T). There was no significant difference between the two groups (p = 0.294). Mean homocysteine level in mothers of children with Down syndrome was lower than the level in the controls. Our data suggests that the MTHFR C677T polymorphism is not associated with an increased risk of Down syndrome in the north Indian population. Homocysteine levels in our study were higher when compared to other studies. Methylcobolamin and folate deficiency or use of random samples for homocysteine determination could possibly account for this observation.

Kohli, U, Arora, S, Kabra, M, Ramakrishnan, L, Gulati, S, and Pandey, R. (2007) Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down Syndrome Research and Practice, 12(2), 133-137.


Medical issues among children and teenagers with Down syndrome in Hong Kong

Winnie Yam, Philomena Tse, Chak Yu, Chun Chow, Wai But, Kit Li, Lai Lee, Eva Fung, Pauline Mak, and Joseph Lau

We examined the prevalence of medical problems in children and teenagers with Down syndrome in Hong Kong. Methods: Children with Down syndrome receiving care from seven regional hospitals were included and their hospital records were reviewed. A total of 407 patients, aged between 0.06 and 17.16 years were included. Cardiovascular problems were observed in 216 (53%), endocrine problems in 111 (27%), gastrointestinal problems in 46 (11%), haematological problems in 18 (4%), neurological problems in 27 (7%), sleep problems in 36 (9%), skeletal problems in 56 (14%), visual problems in 195 (48%) and auditory problems in 137 (34%). Conclusions: The prevalence of medical problems was high in children and teenagers with Down syndrome in Hong Kong and similar to previous findings elsewhere. Future studies on the local prevalence of medical problems in the adult population with Down syndrome would help to define their medical needs.

Yam, W, Tse, P, Yu, C, Chow, C, But, W, Li, K, Lee, L, Fung, E, Mak, P, and Lau, J. (2007) Medical issues among children and teenagers with Down syndrome in Hong Kong. Down Syndrome Research and Practice, 12(2), 138-140.



Teaching numeracy

Sue Buckley

Understanding number concepts and basic mathematical skills is important for many everyday activities in modern societies. Little is understood about the numeracy abilities of people with Down syndrome. At present, it appears that numeracy is an area of relative difficulty and that progress with more complex mathematical understanding is slow. However, some teaching approaches that seek to utilise certain relative strengths to communicate number concepts seem to be useful in practice. Further research is needed to define the precise difficulties experienced by children with Down syndrome and to evaluate teaching strategies.

Buckley, S. (2007) Teaching numeracy. Down Syndrome Research and Practice, 12(1), 11-14.



Sam's progress with learning mathematics

Lynne Haslam

Sam is 18 years old and has Down syndrome. He achieved a grade in the standard assessment of mathematics (GCSE) at 16 years of age. This paper describes the part played in his success in school by the Kumon method of teaching mathematics, identifies the benefits of the small steps and lots of practice built in to the method and illustrates the way Sam applied his Kumon learning in school.

Haslam, L. (2007) Sam's progress with learning mathematics. Down Syndrome Research and Practice, 12(1), 32-33.



Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome

Folakemi Oredugba

Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age group, sex and educational background of parents. Result: Participants with Down syndrome had poorer oral hygiene than controls, with no significant sex difference. Oral hygiene was similar in the lower age groups but deteriorated with age in the Down syndrome group. Conclusion: Individuals with Down syndrome in Nigeria have poorer oral health and more treatment needs than controls. They would benefit from frequent oral health assessment.

Oredugba, F. (2007) Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome. Down Syndrome Research and Practice, 12(1), 72-76.


New and old directions

Frank Buckley

Improved social and educational opportunities and access to informed healthcare are helping today's generations of people with Down syndrome to achieve more and live longer. This progress is bringing new challenges. Scientific research is steadily improving our understanding of the condition. Future improvements in the lives of people with Down syndrome will require multidisciplinary efforts and more applied or translational research with practical outcomes. In this context, this journal has reviewed the roles it plays in communicating research to specialists and non-specialists, families, practitioners and researchers alike.

Buckley, F. (2007) New and old directions. Down Syndrome Research and Practice, 12(1), 1-4.


Katrina's progress with learning mathematics

Jan McConnochie, and Greg Sneath

Katrina is 10 years old and has Down syndrome. She is making good progress with learning and numbers and mathematics. We describe how Katrina has learned number concepts and arithmetic skills over several years. We highlight the influence of early learning habits, visual supports, motivation and practice, and the uses made of different number teaching schemes.

McConnochie, J, and Sneath, G. (2007) Katrina's progress with learning mathematics. Down Syndrome Research and Practice, 12(1), 34-37.


Increasing opportunities for physical activity

Sue Buckley

Being physically active can have a number of benefits - having fun, meeting with friends, keeping healthy and experiencing success. For children with Down syndrome the foundations need to be laid early if they are to keep active in school, teenage and adult years and parents ask for more help in this area from professionals.

Buckley, S. (2007) Increasing opportunities for physical activity. Down Syndrome Research and Practice, 12(1), 18-19.


Early Intervention in Vietnam

Marja Hodes

This essay describes the setting up of early intervention services in Vietnam. From the outset, there was a focus on developing staff training programmes alongside establishing model early intervention programmes to ensure that the work would be sustained at the end of the project funding and spread throughout the country. The success of this work has now led to the government of Vietnam wanting to move to the next stage and to begin to develop training for full inclusion of children with disabilities in the school system.

Hodes, M. (2007) Early Intervention in Vietnam. Down Syndrome Research and Practice, 12(1), 38-41.


Drug treatment improves memory in mice

Frank Buckley, and Ben Sacks

Mice that carry additional copies of genes comparable to those present on human chromosome 21 have been shown to perform better on memory tests when treated with drugs that target brain function. Could this be an important break-through in the search for pharmacological therapies to assist people with Down syndrome?

Buckley, F, and Sacks, B. (2007) Drug treatment improves memory in mice. Down Syndrome Research and Practice, 12(1), 20-21.


Down syndrome in the neurology clinic: Too much? Too little? Too late?

Andrew Larner

This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in > 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in 6 patients. Only one new, comorbid, diagnosis was made. Neurologists have little exposure to, and hence little chance to develop expertise in, the neurological complications of Down syndrome. It is suggested that closer liaison between neurologists and psychiatrists with an interest in learning disability might improve the management of neurological problems in patients with Down syndrome.

Larner, A. (2007) Down syndrome in the neurology clinic: Too much? Too little? Too late?. Down Syndrome Research and Practice, 12(1), 69-71.




Teaching spontaneous responses to a young child with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.

Feeley, K, and Jones, E. (2007) Teaching spontaneous responses to a young child with Down syndrome. Down Syndrome Research and Practice, 12(2), 148-152.


Strategies to address challenging behaviour in young children with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may present problems within community, leisure, and educational settings, and, in many instances, precludes them from accessing these environments. Factors contributing to the occurrence of challenging behaviours include characteristics associated with the Down syndrome behavioural phenotype, increased incidence of illness and sleep disorders, and the way in which individuals in their environment respond to their behaviours. In this paper we describe the use of behaviourally based intervention strategies to address some of the specific challenges often seen in young children with Down syndrome. Through a series of case studies, the effectiveness of evidence-based interventions addressing challenging behaviour is demonstrated.

Feeley, K, and Jones, E. (2007) Strategies to address challenging behaviour in young children with Down syndrome. Down Syndrome Research and Practice, 12(2), 153-163.




Prevalence of bruxism among Mexican children with Down syndrome

Rubén López-Pérez, Patricia López-Morales, Borges-Yáñez, Gerardo Maupomé, and Gustavo Parés-Vidrio

This study sought to determine the prevalence of bruxism in a Mexican community of children with Down syndrome, and to evaluate bruxism's relationship with age, sex, intellectual disability level, and type of chromosomal abnormality of trisomy 21. Using a cross-sectional design, 57 boys and girls (3 to 14 years old) were examined. Three approaches to establish presence or absence of bruxism were employed: parental questionnaire, clinical examination, and dental study casts. Data were analysed using bivariate analyses and conditional logistic regression. We found that the overall prevalence of bruxism was 42%. No statistically significant associations between bruxism and age, sex, or intellectual disability level were found. There was, however, a significant association between bruxism and type of chromosomal abnormality, with mosaicism being more frequently associated with bruxism.

López-Pérez, R, López-Morales, P, Borges-Yáñez, Maupomé, G, and Parés-Vidrio, G. (2007) Prevalence of bruxism among Mexican children with Down syndrome. Down Syndrome Research and Practice, 12(1), 45-49.


Parents' perceptions of health and physical activity needs of children with Down syndrome

Kristi Menear

Individuals with Down syndrome typically have low fitness levels and obesity despite data that indicate physiological gains from physical activity and exercise interventions. Low fitness levels and obesity in individuals with Down syndrome may be related to sedentary lifestyles, social and recreational opportunities, or low motivation to be physically active. These causal influences on the overall health of individuals with Down syndrome may be related to parental or caregiver support. Through this study, parents of children with Down syndrome from preschool to adolescent ages were interviewed about their perceptions of the health and physical activity needs of their children. Data from four focus groups indicated the following most salient themes: (1) all parents believed participation in physical activity has immediate and long-term positive health impacts on their child with Down syndrome, and most of the parents thought their child would benefit from being more physically active, (2) most parents observed that their child participated in physical activities primarily for social reasons, most notably to be with their peers with or without Down syndrome or to be with their sibling(s), and that without such motivation their child would choose sedentary activities, (3) parents of teenagers identified a need for their child to learn an individual sport to have sporting opportunities that do not require ability-matched teammates and opponents, and (4) parents recognised their need for help from physical activity specialists through either parent education regarding home-based physical activity programmes or an increase in appropriate community-based physical activity programmes for their child with Down syndrome. The interview data suggest future research should evaluate the outcomes of long-term individualised home-based physical activity interventions for children with Down syndrome. Additionally, educators, recreation specialists, and therapists should assist children and youth with their acquisition of skills used in individual and dual sports.

Menear, K. (2007) Parents' perceptions of health and physical activity needs of children with Down syndrome. Down Syndrome Research and Practice, 12(1), 60-68.


Metric analysis of the hard palate in children with Down syndrome - a comparative study

Gopalan Bhagyalakshmi, Annappa Renukarya, and Sayee Rajangam

The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed misaligned teeth and a large and fissured tongue. As a result good palato-lingual contact is not achieved, with resulting defective articulation. Using orthodontic and prosthodontic principles could modify this situation, i.e. the anatomy of the hard palate. The altered palatal contour may give better placing to the tongue, leading to improved palato-lingual contact and articulation. The dimensional parameters measured were: average linear width (AVL), average curvilinear width (AVCL), average height (AVH) at different planes; average antero-posterior length (AAP), average volume (V), palatal arch length (PAL), and palatal index (PI). The findings were compared with those of controls of the same age and sex. The AVL, AVCL, AAP, PAL, V and PI values of patients with Down syndrome were found to be less than the corresponding values of controls and the average height values of patients with Down syndrome were greater than the corresponding values of controls. Statistical significance was observed in all measurements between the controls and the patients with Down syndrome, especially in those concerning the height and the volume of the oral cavity. Observations from this study have suggested that prostheses might be designed to modify the palatal anatomy and produce better articulation in people with Down syndrome.

Bhagyalakshmi, G, Renukarya, A, and Rajangam, S. (2007) Metric analysis of the hard palate in children with Down syndrome - a comparative study. Down Syndrome Research and Practice, 12(1), 55-59.


The impact of periodontal disease on the quality of life of individuals with Down syndrome

Ana Loureiro, Fernando Costa, and José da Costa

Objective: This study aimed to determine the prevalence of periodontal disease among children and adolescents with Down syndrome and the possible repercussions of such pathology in the quality of life of the group in question. Method: The sample consists of 93 individuals with Down syndrome 6 - 20 years old, living in Brazil (Minas Gerais). Periodontal probing was carried out on every site of each tooth. The Plaque Index and periodontal clinical parameters were recorded. A broad interview was carried out with the mothers, consisted of an adaptation of the Oral Health Impact File OHIP-14 that was used to measure the negative repercussions of periodontal disease in the daily lives of these individuals. Results: The prevalence of gingivitis was 91%, whereas periodontitis was found in 33% of the individuals. When the impact of periodontal disease on the quality of life was correlated with the clinical periodontal parameters, it was observed that there are significant statistical differences among them: bleeding on probing, probing depth and attachment loss. These same results, correlated with all the different groups that are categorised according to the diagnosis of periodontal disease, also show significant differences. Conclusions: Periodontal disease can be considered as a condition with high prevalence within the group in question, which has negative effects on the quality of life of the subjects. These effects are aggravated by the seriousness of the disease.

Loureiro, A, Costa, F, and da Costa, J. (2007) The impact of periodontal disease on the quality of life of individuals with Down syndrome. Down Syndrome Research and Practice, 12(1), 50-54.