Maternal teaching behaviour and pre-verbal development of children with Down syndrome and typically developing children

Klein, Adi-Japha, and Rosenthal

The objective of the current study was to identify and compare maternal teaching behaviours in interactions with infants with Down syndrome and typically developing infants, in relation to their pre-verbal development. Teaching behaviours defined based on a mediational theory perspective, were videotaped and examined in interactions with 38 infants with Down syndrome and 38 typically developing infants, in relation to their Pre-verbal Communication development from 7-9 to 20-22 months. The gap in the development of Pre-verbal Communication between the two groups in favour of typically developing children became clearly apparent at 14-16 months and coincided with a gap in frequency of maternal teaching behaviours provided to each group. Mothers of children with Down syndrome used more 'isolated' Focusing which was negatively related to measures of Pre-verbal Communication and less Affecting and Expanding which were positively related to Pre-verbal Communication as compared with mothers of typically developing children. For children with Down syndrome, Regulation of behaviour and Affecting observed at 14-16 months were the best predictors of pre-verbal development at 20-22 months. For children with Down syndrome and typically developing children, sequences of parental behaviour including Focusing accompanied by Affecting or Expanding, observed at 14-16 months, predicted pre-verbal development and Bayley scores, at 20-22 months, whereas 'isolated' Focusing behaviour was a negative predictor of the above. These findings suggest the need to direct teaching behaviour in meaningful sequences rather than in isolation.

Reading interventions for children with Down syndrome

Burgoyne

Though many individuals with Down syndrome are now able to achieve useful levels of literacy skills, it is still not clear how best to support the development of reading skills with this group. Research with typically developing children has identified successful methods of teaching reading, and recent work has begun to evaluate these methods for individuals with Down syndrome. The aim of this paper is to review this work, and to highlight areas in need of further research.

Exceptional writing in a young adult with Down syndrome

Markey, and Hoh

Until recently, there have been few studies of language development in the Down syndrome population. Within the past fifteen years, studies have been done concerning the writing abilities of people with Down syndrome. None of these studies, however, have focused on a high functioning person with Down syndrome. This study demonstrates the ability of someone with Down syndrome to make incredible language achievements. I used my sister, Rose, as the subject of my study. Rose was born five years before me; at birth she was diagnosed with Down syndrome. I analysed 62 of Rose's journal entries, dating from 1998 to 2005. From these journals, I was able to see the language accomplishments that she has made. These include metalinguistic awareness, correct sentence structure, correct use of parallelism, correct use of temporal phrases, correct use of conditional phrases, and an interesting narrative structure and writing persona. Rose has achieved incredible language accomplishments. This is due in part to the early intervention programme she completed, as well as her home atmosphere. There, she was given intensive treatment, and she was treated as a capable person, not a disabled individual.

Autoimmune hepatitis in Down syndrome

Nguyen, Duong, Lazare, Triantafyllopoulou, Leibowitz, Butzner, Nagpal, and Treem

We sought to determine the clinical features of autoimmune hepatitis in children with Down syndrome. After an inquiry on the PEDS GI Board, a questionnaire was sent to interested colleagues. Seven patients with autoimmune hepatitis and Down syndrome were reported. The median age at diagnosis was 10 yrs, range 3-15 yrs. All seven were ANA+ and SMA+; none were anti-LKM1+. Initially, three were treated with corticosteroids alone, three with corticosteroids and azathioprine (AZA), and one with cyclosporine alone. Three are currently on AZA alone; two remain on corticosteroids. No patients underwent liver transplant. There were two deaths. We concluded that autoimmune hepatitis is another autoimmune disease to consider in the evaluation of children with Down syndrome.

Production and perception of word stress in children and adolescents with Down syndrome

Pettinato, and Verhoeven

This article reviews the importance of word stress for typical language acquisition and presents evidence that in certain developmental language disorders, processing of word stress is disrupted. Two novel experiments were carried out testing the production and perception of word stress in a group of 16 children and adolescents with Down syndrome (ages 11-20) matched on receptive vocabulary level to 12 typically developing children (ages 4.06-7). The results indicated processing difficulties in both the production and perception of more difficult and later acquired stress patterns as well as weak initial syllables at the beginnings of words. The impact of these difficulties on language acquisition processes is discussed and future avenues for research are sketched.

Phonetic intelligibility testing in adults with Down syndrome

Bunton, Leddy, and Miller

The purpose of the study was to document speech intelligibility deficits for a group of five adult males with Down syndrome, and use listener based error profiles to identify phonetic dimensions underlying reduced intelligibility. Phonetic error profiles were constructed for each speaker using the Kent, Weismer, Kent, and Rosenbek word intelligibility test[1]. The test was designed to allow for identification of reasons for the intelligibility deficit, quantitative analyses at varied levels, and sensitivity to potential speech deficits across populations. Listener generated profiles were calculated based on a multiple-choice task and a transcription task. The most disrupted phonetic features, across listening task, involved simplification of clusters in both the word initial and word final position, and contrasts involving tongue-posture, control, and timing (e.g., high-low vowel, front-back vowel, and place of articulation for stops and fricatives). Differences between speakers in the ranking of these phonetic features was found, however, the mean error proportion for the six most severely affected features correlated highly with the overall intelligibility score (0.88 based on multiple-choice task, 0.94 for the transcription task). The phonetic feature analyses are an index that may help clarify the suspected motor speech basis for the speech intelligibility deficits seen in adults with Down syndrome and may lead to improved speech management in these individuals.

Parent-training in Narrative Language Intervention with children with Down syndrome: case study

Schoenbrodt, Eliopoulos, and Popomaronis

The purpose of the present study was to introduce parent training as a method to increase narrative language production in their children with Down syndrome. Two children and their mothers participated in this intervention. Children were pre-tested using the Peabody Picture Vocabulary Test-III (PPVT-III) to measure receptive language abilities for a general indication of language abilities. In addition, an elicitation of a narrative language sample (story retell and story generation) was evaluated for mean length of utterance, number of communication units (C-units), as well as the presence or absence or narrative and story grammar elements. Parents participated in a training workshop and then completed the narrative training over a four-week period in their homes. Through two case studies, the effectiveness of this type of intervention in increasing overall language, but particularly narrative language elements, is demonstrated.

What is currently known about hypotonia, motor skill development, and physical activity in Down syndrome

Latash, Wood, and Ulrich

A great deal of variability exists in the Down syndrome population in terms of their motor control, coordination, and skill. Virtually all papers on motor control, motor development, and motor learning in Down syndrome mention low muscle tone or hypotonia as a major contributor to the typical differences between movements performed by individuals with and without Down syndrome. Our paper makes an effort to discuss what is currently known about hypotonia, motor skill development, and physical activity in Down syndrome. There is a critical need for more objective measures of muscle tone or stiffness and the design and testing of interdisciplinary interventions to maximise physical activity, health, and community participation in the Down syndrome population.

Parent/carer ratings of self-talk behaviour in children and adults with Down syndrome in Canada and the United Kingdom

Patti, Andiloro, and Gavin

Parents of children and adults with Down syndrome have observed many of them engage in self-talk or 'private speech'. They may use self-talk to work out situations, express inner feelings, and entertain themselves. Some reports have stressed that this behaviour is not a delusion or hallucination. The Self-Talk Survey was developed to investigate the quality, style, and content of self-talk. Surveys from Canada and the United Kingdom were obtained on 97 males and 80 females with Down syndrome aged 5-60 years. Analysis revealed that self-talk was present in 91% of the survey sample and occurred less frequently when the person was alone. A person's age and level of disability did not influence their ability to engage in self talk. Observed self-talk was generally understandable and displayed in a normal tone. A person's self-talk was typically directed to themselves, but could also involve a real or imaginary person or a favourite toy/object. The content of self-talk focused on an event that recently occurred or was expected to occur, a television programme or movie, family or friends, completion of an activity, or various complaints. Self-talk also served as an outlet for planning or rehearsing an activity, working out a problem, or as a self-dialogue about something interesting or important.

L'utilisation de Gingko, Prozac et Focalin comme « traitement » dans la trisomie 21 (syndrome de Down)

Une combinaison de médicaments recommandés contre la dépression, les troubles de l'attention et l'hyperactivité est promue comme « traitement » du syndrome de Down par la « Changing Minds Foundation ». Il n'y a pas de preuve scientifique permettant l'usage régulier de cette combinaison de médicaments par les personnes atteintes du syndrome de Down. Il est important que les familles concernées et les professionnels de santé sachent qu'il n'y a pas de preuve suffisante ni quant à la sécurité ni quant aux bénéfices de l'usage de ce traitement.

Cytogenetic profile of Down syndrome cases seen by a general genetics outpatient service in Brazil

Biselli, Goloni-Bertollo, Ruiz, and Pavarino-Bertelli

Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of confirmed cases of Down syndrome seen in the General Genetics Outpatient Service in a teaching hospital - Hospital de Base in São José do Rio Preto - from the implementation of the service in 1973 to November 2005, with the purpose of establishing the nature of the cytogenetic abnormalities of these patients. A retrospective study was performed, in which the karyotypes of patients with Down syndrome consulted at the General Genetics Outpatient Service of HB-FAMERP from 1973 to November 2005 were investigated. The results of cytogenetic analysis were obtained from the consultation register and patients' hospital records. The results show 387 Down syndrome cases confirmed by karyotypic examinations. Of these, 357 (92.2%) patients had free trisomy of chromosome 21, 24 (6.2%) had translocation involving chromosome 21 and 6 (1.5%) had mosaicism. Nondisjunction was the main cause of Down syndrome, as the majority of the patients have free trisomy of chromosome 21. The cytogenetic pattern of Down syndrome is variable among different studies.

Der Einsatz von Ginkgo, Fluoxetin (Prozac) und Focalin als „Behandlung“ beim Down-Syndrom

Eine Kombination von Medikamenten, die bei Depressionen und Aufmerksamkeitsstörungen empfohlen werden, wird weitgehend als „Behandlung“ beim Down-Syndrom angepriesen. Es gibt keine wissenschaftlichen Belege für die regelmäßige Anwendung dieses Behandlungsprotokolls bei Menschen mit Down-Syndrom. Es ist wichtig, dass Familien und Ärzte sowie medizinische Fachkräfte sich bewusst sind, dass die Unbedenklichkeit und die Wirksamkeit dieser Medikamente wissenschaftlich nicht bewiesen ist.

La utilización de Ginkgo, Prozac y Focalina como "tratamiento" para el síndrome de Down

Se está promoviendo de forma muy extendida la recomendación de utilizar una combinación de fármacos que se prescriben para el tratamiento de la depresión y del trastorno del déficit de atención con hiperactividad como "tratamiento" para el síndrome de Down. No existe respaldo alguno científico para la utilización rutinaria de este protocolo por parte de las personas con síndrome de Down. es importante que tanto las familias como los profesionales de la salud sean conscientes de la carencia de datos científicos sobre los peligros y beneficios que tiene la utilización de este protocolo.

The use of Ginkgo, Prozac and Focalin as a "treatment" for Down syndrome

A combination of drugs recommended for depression and attention deficit and hyperactivity disorder is being widely promoted as a "treatment" for Down syndrome. There is no scientific support for the routine use of this protocol by people who have Down syndrome. It is important that families and healthcare professionals are aware of the lack of evidence for safety and benefits from use of this protocol.

Memory and learning - using mouse to model neurobiological and behavioural aspects of Down syndrome and assess pharmacotherapeutics

Gardiner

Mouse models are a standard tool in the study of many human diseases, providing insights into the normal functions of a gene, how these are altered in disease and how they contribute to a disease process, as well as information on drug action, efficacy and side effects. Our knowledge of human genes, their genetics, functions, interactions and biochemistry, has dramatically improved over the last few years. Recently, several different drugs have been shown to rescue learning and memory deficits in a major mouse model of Down syndrome. Here, we first review the challenges inherent in using mouse models in Down syndrome research and then describe the successful molecular/genetic interventions that are cause for cautious optimism. We then predict critical molecular abnormalities that can be tested for relevance to learning and memory and that are potential targets of existing pharmacotherapeutics.

The voice of the child with Down syndrome

Hooton, and Westaway

An exciting multi-agency project to create a future for children with Down syndrome where they can more effectively express their opinions. This work recognises the need to remove barriers and push boundaries associated with the reduced ability to verbalise and was planned to give every child with Down syndrome in mainstream schooling in Buckinghamshire the chance to express themselves in an alternative way and to chart visually their own judgement of progress. It explores success in enabling a child to be able to contribute in a personally meaningful and accurate way to the annual review process and beyond, using complementary professional expertise.

Families of children with Down syndrome:What we know and what we need to know

Cuskelly, Hauser-Cram , and Van Riper

This paper provides a brief overview of what is currently known about families of children with Down syndrome. In addition, it highlights a number of issues that require further research if we are to have a thorough understanding of the impact of a child with Down syndrome on families as a system and on the individuals who make up that system. Some of these issues include the need for: 1) a more balanced perspective - one that acknowledges both positive and negative aspects of the experience, 2) greater attention to the experiences of fathers, 3) more cross-cultural research and studies focused on cultural perspectives, 4) increased attention to the change in demands for families as the individual with Down syndrome ages, 5) more longitudinal studies, 6) greater variety in methodological approaches, for example greater use of qualitative approaches and observational methods, and 7) an increase in the use of statistical approaches that model change and test hypotheses about predictors of change in both parents and children.

The developmental approach to the study of Down syndrome: Contemporary issues in historical perspective

Flanagan, Russo, Flores, and Burack

The developmental approach provides an essential framework for understanding Down syndrome. Paradoxically, this framework both narrows and broadens the scope of research in the field. The narrowing involves a more fine-tuned approach to diagnosis, a more precise delineation of skill in relation to specific aetiology and developmental level, and fine-tuned matching strategies that involve comparisons on specific aspects of functioning. The broadening of the scope involves the consideration of the �whole child� in terms of personality, social, and emotional development, within the context of families, communities, and societies. This far-reaching developmental perspective revolutionised the study of intellectual disabilities with its theoretical, methodological, and interpretive innovations, while this more precise approach to the study of persons with intellectual disabilities in turn served to transform developmental theory by challenging, extending, and reconceptualising well-established developmental principles.

The Down syndrome behavioural phenotype: Taking a developmental approach

Fidler, Most, and Philofsky

Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding of the phenotype, will advance science and service for this population. Related issues including the distinction between primary and secondary phenotypic features, heterotypic continuity, and methodological implications are discussed.

Speech production in people with Down syndrome

Bray

There is a well developed literature on the development of vocabulary and grammar in children with Down syndrome but limited information in the area of speech production. The spoken language of people with Down syndrome often leads to a lack of intelligibility which does not necessarily diminish with age, despite slow but steady development of phonology. This paper explores some of the elements in speech production which may contribute to the listeners' perception of reduced intelligibility in the speech of people with Down syndrome.

Number and arithmetic skills in children with Down syndrome

Brigstocke, Hulme, and Nye

It is clear that arithmetic and number skills are areas of particular difficulty for individuals with Down syndrome. Studies of arithmetic development in typically developing children suggest that a pre-verbal �number sense� system and counting skills provide two critical foundations for the development of arithmetic. Studies of children with Down syndrome suggest that the development of both these foundational skills present difficulties for them, though these conclusions are based on relatively small samples of children. It would seem that further studies of arithmetic and number skills in children with Down syndrome, involving larger samples of children and broader ranges of measures, are badly needed.

Brigstocke, Hulme, and Nye. (2008) Number and arithmetic skills in children with Down syndrome. Down Syndrome Research and Practice, (), -.

Social and communicative functioning

Oates, Bard, and Harris

It is widely acknowledged that the establishment of positive attachment relationships and communication with primary caregivers is an important outcome of social-emotional development in early childhood. Attachment security and communication abilities are also associated with key developmental achievements later in childhood, and indeed across the life-span. Research conducted with children with Down syndrome suggests that although differences in attention regulation and emotional responsivity may modify the developmental processes in some respects, the general patterns are similar to those in typically-developing children. It is known from research in this latter population that sensitivity and 'mind-mindedness' in caregiving are of key importance, as is the development of shared attentional focus. We argue that targeted research to identify the ways in which parents can most effectively support these core functions in the early development of children with Down syndrome should be a priority, as should involving parents as research partners in this endeavour.

Pragmatic development

Abbeduto

I review research on the pragmatic, or social, aspects of language development in children, adolescents, and young adults with Down syndrome. Virtually all facets of pragmatic development have been found to be delayed in Down syndrome, but some facets are especially delayed relative to cognitive development. Areas of strength in pragmatics (e.g., narration), however, have also been identified. Strengths and weaknesses in pragmatics relative to other conditions associated with intellectual disabilities (e.g., fragile X syndrome) have been found as well. Next steps for research are briefly outlined.

Memory and neuropsychology in Down syndrome

Jarrold, Nadel, and Vicari

This paper outlines the strengths and weaknesses in both short-term and long-term memory in Down syndrome, and the implications of these patterns for both other aspects of cognitive development and underlying neural pathology. There is clear evidence that Down syndrome is associated with particularly poor verbal short-term memory performance, and a deficit in verbal short-term memory would be expected to negatively affect aspects of language acquisition, particularly vocabulary development. Individuals with Down syndrome also show impaired explicit long-term memory for verbal information, and may also have particular problems in explicit long-term memory for visual-object associations. However, implicit memory appears to be less affected in Down syndrome, and may therefore provide an important basis for intervention approaches. These findings are consistent with the suggestion of dysfunction within the hippocampal system in Down syndrome, and problems in verbal memory may be linked to impaired functioning of pre-frontal brain regions.

How relationship focused intervention promotes developmental learning

Mahoney, and Perales

Relationship focused intervention (RFI) is an early intervention model that encourages parents to engage in highly responsive interactions with their children. The purpose of this paper is to address the conceptual underpinnings for RFI. We discuss the process of developmental learning based upon brief observations of three children with Down syndrome playing by themselves. We observe that the most salient characteristic of children's play is the extent to which they practise or repeat the developmental behaviours that characterise their current developmental functioning. Although children's developmental functioning is assessed by their new and emerging developmental skills, consistent with Piaget's concept of assimilation, children's developmental learning appears to be highly dependent upon massive amounts of spontaneous practice of their existing developmental behaviours. In addition we review data from descriptive and intervention studies that we recently published which indicate that parental responsive interaction enhances children's spontaneous activity, and that children's spontaneous activity is correlated with their rate of development. We conclude that RFI enhances children's development less by teaching the skills and behaviours that characterise higher levels of developmental functioning and more by encouraging children's assimilative learning which results from their practising and repeating the developmental behaviours they have already learned.

Creating support for families of children with Down syndrome with a co-diagnosis: A survey

Medlen

Little is known about the effects on families of having a child with Down syndrome and an additional diagnosis (co-diagnosis). In fact, little is known about the incidence of specific co-diagnoses or the methods of reaching these diagnoses. However, there is an interest in improving diagnostic tools and support mechanisms for people with Down syndrome who have a co-diagnosis such as autism spectrum disorder, attention deficit disorder (ADD), obsessive-compulsive disorder (OCD), or other behavioural and medical diagnoses.

The development of literacy skills in children with Down syndrome: Implications for intervention

Snowling, Nash, and Henderson

The cognitive profile observed in Down syndrome is typically uneven with stronger visual than verbal skills, receptive vocabulary stronger than expressive language and grammatical skills, and often strengths in reading abilities. However, there is considerable variation across the population of children with Down syndrome. We begin by outlining some of the methodological issues that surround research on literacy development in Down syndrome before surveying what is known about literacy and literacy-related skills. We proceed to review interventions to promote reading in school-age children with Down syndrome and conclude with directions for future research.

Snowling, Nash, and Henderson. (2008) The development of literacy skills in children with Down syndrome: Implications for intervention. Down Syndrome Research and Practice, (), -.

Down Syndrome Research and Practice ()

Maternal teaching behaviour and pre-verbal development of children with Down syndrome and typically developing children

Klein, Adi-Japha, and Rosenthal

The objective of the current study was to identify and compare maternal teaching behaviours in interactions with infants with Down syndrome and typically developing infants, in relation to their pre-verbal development. Teaching behaviours defined based on a mediational theory perspective, were videotaped and examined in interactions with 38 infants with Down syndrome and 38 typically developing infants, in relation to their Pre-verbal Communication development from 7-9 to 20-22 months. The gap in the development of Pre-verbal Communication between the two groups in favour of typically developing children became clearly apparent at 14-16 months and coincided with a gap in frequency of maternal teaching behaviours provided to each group. Mothers of children with Down syndrome used more 'isolated' Focusing which was negatively related to measures of Pre-verbal Communication and less Affecting and Expanding which were positively related to Pre-verbal Communication as compared with mothers of typically developing children. For children with Down syndrome, Regulation of behaviour and Affecting observed at 14-16 months were the best predictors of pre-verbal development at 20-22 months. For children with Down syndrome and typically developing children, sequences of parental behaviour including Focusing accompanied by Affecting or Expanding, observed at 14-16 months, predicted pre-verbal development and Bayley scores, at 20-22 months, whereas 'isolated' Focusing behaviour was a negative predictor of the above. These findings suggest the need to direct teaching behaviour in meaningful sequences rather than in isolation.

Reading interventions for children with Down syndrome

Burgoyne

Though many individuals with Down syndrome are now able to achieve useful levels of literacy skills, it is still not clear how best to support the development of reading skills with this group. Research with typically developing children has identified successful methods of teaching reading, and recent work has begun to evaluate these methods for individuals with Down syndrome. The aim of this paper is to review this work, and to highlight areas in need of further research.

Exceptional writing in a young adult with Down syndrome

Markey, and Hoh

Until recently, there have been few studies of language development in the Down syndrome population. Within the past fifteen years, studies have been done concerning the writing abilities of people with Down syndrome. None of these studies, however, have focused on a high functioning person with Down syndrome. This study demonstrates the ability of someone with Down syndrome to make incredible language achievements. I used my sister, Rose, as the subject of my study. Rose was born five years before me; at birth she was diagnosed with Down syndrome. I analysed 62 of Rose's journal entries, dating from 1998 to 2005. From these journals, I was able to see the language accomplishments that she has made. These include metalinguistic awareness, correct sentence structure, correct use of parallelism, correct use of temporal phrases, correct use of conditional phrases, and an interesting narrative structure and writing persona. Rose has achieved incredible language accomplishments. This is due in part to the early intervention programme she completed, as well as her home atmosphere. There, she was given intensive treatment, and she was treated as a capable person, not a disabled individual.

Autoimmune hepatitis in Down syndrome

Nguyen, Duong, Lazare, Triantafyllopoulou, Leibowitz, Butzner, Nagpal, and Treem

We sought to determine the clinical features of autoimmune hepatitis in children with Down syndrome. After an inquiry on the PEDS GI Board, a questionnaire was sent to interested colleagues. Seven patients with autoimmune hepatitis and Down syndrome were reported. The median age at diagnosis was 10 yrs, range 3-15 yrs. All seven were ANA+ and SMA+; none were anti-LKM1+. Initially, three were treated with corticosteroids alone, three with corticosteroids and azathioprine (AZA), and one with cyclosporine alone. Three are currently on AZA alone; two remain on corticosteroids. No patients underwent liver transplant. There were two deaths. We concluded that autoimmune hepatitis is another autoimmune disease to consider in the evaluation of children with Down syndrome.

Production and perception of word stress in children and adolescents with Down syndrome

Pettinato, and Verhoeven

This article reviews the importance of word stress for typical language acquisition and presents evidence that in certain developmental language disorders, processing of word stress is disrupted. Two novel experiments were carried out testing the production and perception of word stress in a group of 16 children and adolescents with Down syndrome (ages 11-20) matched on receptive vocabulary level to 12 typically developing children (ages 4.06-7). The results indicated processing difficulties in both the production and perception of more difficult and later acquired stress patterns as well as weak initial syllables at the beginnings of words. The impact of these difficulties on language acquisition processes is discussed and future avenues for research are sketched.

Phonetic intelligibility testing in adults with Down syndrome

Bunton, Leddy, and Miller

The purpose of the study was to document speech intelligibility deficits for a group of five adult males with Down syndrome, and use listener based error profiles to identify phonetic dimensions underlying reduced intelligibility. Phonetic error profiles were constructed for each speaker using the Kent, Weismer, Kent, and Rosenbek word intelligibility test[1]. The test was designed to allow for identification of reasons for the intelligibility deficit, quantitative analyses at varied levels, and sensitivity to potential speech deficits across populations. Listener generated profiles were calculated based on a multiple-choice task and a transcription task. The most disrupted phonetic features, across listening task, involved simplification of clusters in both the word initial and word final position, and contrasts involving tongue-posture, control, and timing (e.g., high-low vowel, front-back vowel, and place of articulation for stops and fricatives). Differences between speakers in the ranking of these phonetic features was found, however, the mean error proportion for the six most severely affected features correlated highly with the overall intelligibility score (0.88 based on multiple-choice task, 0.94 for the transcription task). The phonetic feature analyses are an index that may help clarify the suspected motor speech basis for the speech intelligibility deficits seen in adults with Down syndrome and may lead to improved speech management in these individuals.

Parent-training in Narrative Language Intervention with children with Down syndrome: case study

Schoenbrodt, Eliopoulos, and Popomaronis

The purpose of the present study was to introduce parent training as a method to increase narrative language production in their children with Down syndrome. Two children and their mothers participated in this intervention. Children were pre-tested using the Peabody Picture Vocabulary Test-III (PPVT-III) to measure receptive language abilities for a general indication of language abilities. In addition, an elicitation of a narrative language sample (story retell and story generation) was evaluated for mean length of utterance, number of communication units (C-units), as well as the presence or absence or narrative and story grammar elements. Parents participated in a training workshop and then completed the narrative training over a four-week period in their homes. Through two case studies, the effectiveness of this type of intervention in increasing overall language, but particularly narrative language elements, is demonstrated.

What is currently known about hypotonia, motor skill development, and physical activity in Down syndrome

Latash, Wood, and Ulrich

A great deal of variability exists in the Down syndrome population in terms of their motor control, coordination, and skill. Virtually all papers on motor control, motor development, and motor learning in Down syndrome mention low muscle tone or hypotonia as a major contributor to the typical differences between movements performed by individuals with and without Down syndrome. Our paper makes an effort to discuss what is currently known about hypotonia, motor skill development, and physical activity in Down syndrome. There is a critical need for more objective measures of muscle tone or stiffness and the design and testing of interdisciplinary interventions to maximise physical activity, health, and community participation in the Down syndrome population.

Parent/carer ratings of self-talk behaviour in children and adults with Down syndrome in Canada and the United Kingdom

Patti, Andiloro, and Gavin

Parents of children and adults with Down syndrome have observed many of them engage in self-talk or 'private speech'. They may use self-talk to work out situations, express inner feelings, and entertain themselves. Some reports have stressed that this behaviour is not a delusion or hallucination. The Self-Talk Survey was developed to investigate the quality, style, and content of self-talk. Surveys from Canada and the United Kingdom were obtained on 97 males and 80 females with Down syndrome aged 5-60 years. Analysis revealed that self-talk was present in 91% of the survey sample and occurred less frequently when the person was alone. A person's age and level of disability did not influence their ability to engage in self talk. Observed self-talk was generally understandable and displayed in a normal tone. A person's self-talk was typically directed to themselves, but could also involve a real or imaginary person or a favourite toy/object. The content of self-talk focused on an event that recently occurred or was expected to occur, a television programme or movie, family or friends, completion of an activity, or various complaints. Self-talk also served as an outlet for planning or rehearsing an activity, working out a problem, or as a self-dialogue about something interesting or important.

L'utilisation de Gingko, Prozac et Focalin comme « traitement » dans la trisomie 21 (syndrome de Down)

Une combinaison de médicaments recommandés contre la dépression, les troubles de l'attention et l'hyperactivité est promue comme « traitement » du syndrome de Down par la « Changing Minds Foundation ». Il n'y a pas de preuve scientifique permettant l'usage régulier de cette combinaison de médicaments par les personnes atteintes du syndrome de Down. Il est important que les familles concernées et les professionnels de santé sachent qu'il n'y a pas de preuve suffisante ni quant à la sécurité ni quant aux bénéfices de l'usage de ce traitement.

Cytogenetic profile of Down syndrome cases seen by a general genetics outpatient service in Brazil

Biselli, Goloni-Bertollo, Ruiz, and Pavarino-Bertelli

Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of confirmed cases of Down syndrome seen in the General Genetics Outpatient Service in a teaching hospital - Hospital de Base in São José do Rio Preto - from the implementation of the service in 1973 to November 2005, with the purpose of establishing the nature of the cytogenetic abnormalities of these patients. A retrospective study was performed, in which the karyotypes of patients with Down syndrome consulted at the General Genetics Outpatient Service of HB-FAMERP from 1973 to November 2005 were investigated. The results of cytogenetic analysis were obtained from the consultation register and patients' hospital records. The results show 387 Down syndrome cases confirmed by karyotypic examinations. Of these, 357 (92.2%) patients had free trisomy of chromosome 21, 24 (6.2%) had translocation involving chromosome 21 and 6 (1.5%) had mosaicism. Nondisjunction was the main cause of Down syndrome, as the majority of the patients have free trisomy of chromosome 21. The cytogenetic pattern of Down syndrome is variable among different studies.

Der Einsatz von Ginkgo, Fluoxetin (Prozac) und Focalin als „Behandlung“ beim Down-Syndrom

Eine Kombination von Medikamenten, die bei Depressionen und Aufmerksamkeitsstörungen empfohlen werden, wird weitgehend als „Behandlung“ beim Down-Syndrom angepriesen. Es gibt keine wissenschaftlichen Belege für die regelmäßige Anwendung dieses Behandlungsprotokolls bei Menschen mit Down-Syndrom. Es ist wichtig, dass Familien und Ärzte sowie medizinische Fachkräfte sich bewusst sind, dass die Unbedenklichkeit und die Wirksamkeit dieser Medikamente wissenschaftlich nicht bewiesen ist.

La utilización de Ginkgo, Prozac y Focalina como "tratamiento" para el síndrome de Down

Se está promoviendo de forma muy extendida la recomendación de utilizar una combinación de fármacos que se prescriben para el tratamiento de la depresión y del trastorno del déficit de atención con hiperactividad como "tratamiento" para el síndrome de Down. No existe respaldo alguno científico para la utilización rutinaria de este protocolo por parte de las personas con síndrome de Down. es importante que tanto las familias como los profesionales de la salud sean conscientes de la carencia de datos científicos sobre los peligros y beneficios que tiene la utilización de este protocolo.

The use of Ginkgo, Prozac and Focalin as a "treatment" for Down syndrome

A combination of drugs recommended for depression and attention deficit and hyperactivity disorder is being widely promoted as a "treatment" for Down syndrome. There is no scientific support for the routine use of this protocol by people who have Down syndrome. It is important that families and healthcare professionals are aware of the lack of evidence for safety and benefits from use of this protocol.

Memory and learning - using mouse to model neurobiological and behavioural aspects of Down syndrome and assess pharmacotherapeutics

Gardiner

Mouse models are a standard tool in the study of many human diseases, providing insights into the normal functions of a gene, how these are altered in disease and how they contribute to a disease process, as well as information on drug action, efficacy and side effects. Our knowledge of human genes, their genetics, functions, interactions and biochemistry, has dramatically improved over the last few years. Recently, several different drugs have been shown to rescue learning and memory deficits in a major mouse model of Down syndrome. Here, we first review the challenges inherent in using mouse models in Down syndrome research and then describe the successful molecular/genetic interventions that are cause for cautious optimism. We then predict critical molecular abnormalities that can be tested for relevance to learning and memory and that are potential targets of existing pharmacotherapeutics.

The voice of the child with Down syndrome

Hooton, and Westaway

An exciting multi-agency project to create a future for children with Down syndrome where they can more effectively express their opinions. This work recognises the need to remove barriers and push boundaries associated with the reduced ability to verbalise and was planned to give every child with Down syndrome in mainstream schooling in Buckinghamshire the chance to express themselves in an alternative way and to chart visually their own judgement of progress. It explores success in enabling a child to be able to contribute in a personally meaningful and accurate way to the annual review process and beyond, using complementary professional expertise.

Families of children with Down syndrome:What we know and what we need to know

Cuskelly, Hauser-Cram , and Van Riper

This paper provides a brief overview of what is currently known about families of children with Down syndrome. In addition, it highlights a number of issues that require further research if we are to have a thorough understanding of the impact of a child with Down syndrome on families as a system and on the individuals who make up that system. Some of these issues include the need for: 1) a more balanced perspective - one that acknowledges both positive and negative aspects of the experience, 2) greater attention to the experiences of fathers, 3) more cross-cultural research and studies focused on cultural perspectives, 4) increased attention to the change in demands for families as the individual with Down syndrome ages, 5) more longitudinal studies, 6) greater variety in methodological approaches, for example greater use of qualitative approaches and observational methods, and 7) an increase in the use of statistical approaches that model change and test hypotheses about predictors of change in both parents and children.

The developmental approach to the study of Down syndrome: Contemporary issues in historical perspective

Flanagan, Russo, Flores, and Burack

The developmental approach provides an essential framework for understanding Down syndrome. Paradoxically, this framework both narrows and broadens the scope of research in the field. The narrowing involves a more fine-tuned approach to diagnosis, a more precise delineation of skill in relation to specific aetiology and developmental level, and fine-tuned matching strategies that involve comparisons on specific aspects of functioning. The broadening of the scope involves the consideration of the �whole child� in terms of personality, social, and emotional development, within the context of families, communities, and societies. This far-reaching developmental perspective revolutionised the study of intellectual disabilities with its theoretical, methodological, and interpretive innovations, while this more precise approach to the study of persons with intellectual disabilities in turn served to transform developmental theory by challenging, extending, and reconceptualising well-established developmental principles.

The Down syndrome behavioural phenotype: Taking a developmental approach

Fidler, Most, and Philofsky

Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding of the phenotype, will advance science and service for this population. Related issues including the distinction between primary and secondary phenotypic features, heterotypic continuity, and methodological implications are discussed.

Speech production in people with Down syndrome

Bray

There is a well developed literature on the development of vocabulary and grammar in children with Down syndrome but limited information in the area of speech production. The spoken language of people with Down syndrome often leads to a lack of intelligibility which does not necessarily diminish with age, despite slow but steady development of phonology. This paper explores some of the elements in speech production which may contribute to the listeners' perception of reduced intelligibility in the speech of people with Down syndrome.

Number and arithmetic skills in children with Down syndrome

Brigstocke, Hulme, and Nye

It is clear that arithmetic and number skills are areas of particular difficulty for individuals with Down syndrome. Studies of arithmetic development in typically developing children suggest that a pre-verbal �number sense� system and counting skills provide two critical foundations for the development of arithmetic. Studies of children with Down syndrome suggest that the development of both these foundational skills present difficulties for them, though these conclusions are based on relatively small samples of children. It would seem that further studies of arithmetic and number skills in children with Down syndrome, involving larger samples of children and broader ranges of measures, are badly needed.

Brigstocke, Hulme, and Nye. (2008) Number and arithmetic skills in children with Down syndrome. Down Syndrome Research and Practice, (), -.

Social and communicative functioning

Oates, Bard, and Harris

It is widely acknowledged that the establishment of positive attachment relationships and communication with primary caregivers is an important outcome of social-emotional development in early childhood. Attachment security and communication abilities are also associated with key developmental achievements later in childhood, and indeed across the life-span. Research conducted with children with Down syndrome suggests that although differences in attention regulation and emotional responsivity may modify the developmental processes in some respects, the general patterns are similar to those in typically-developing children. It is known from research in this latter population that sensitivity and 'mind-mindedness' in caregiving are of key importance, as is the development of shared attentional focus. We argue that targeted research to identify the ways in which parents can most effectively support these core functions in the early development of children with Down syndrome should be a priority, as should involving parents as research partners in this endeavour.

Pragmatic development

Abbeduto

I review research on the pragmatic, or social, aspects of language development in children, adolescents, and young adults with Down syndrome. Virtually all facets of pragmatic development have been found to be delayed in Down syndrome, but some facets are especially delayed relative to cognitive development. Areas of strength in pragmatics (e.g., narration), however, have also been identified. Strengths and weaknesses in pragmatics relative to other conditions associated with intellectual disabilities (e.g., fragile X syndrome) have been found as well. Next steps for research are briefly outlined.

Memory and neuropsychology in Down syndrome

Jarrold, Nadel, and Vicari

This paper outlines the strengths and weaknesses in both short-term and long-term memory in Down syndrome, and the implications of these patterns for both other aspects of cognitive development and underlying neural pathology. There is clear evidence that Down syndrome is associated with particularly poor verbal short-term memory performance, and a deficit in verbal short-term memory would be expected to negatively affect aspects of language acquisition, particularly vocabulary development. Individuals with Down syndrome also show impaired explicit long-term memory for verbal information, and may also have particular problems in explicit long-term memory for visual-object associations. However, implicit memory appears to be less affected in Down syndrome, and may therefore provide an important basis for intervention approaches. These findings are consistent with the suggestion of dysfunction within the hippocampal system in Down syndrome, and problems in verbal memory may be linked to impaired functioning of pre-frontal brain regions.

How relationship focused intervention promotes developmental learning

Mahoney, and Perales

Relationship focused intervention (RFI) is an early intervention model that encourages parents to engage in highly responsive interactions with their children. The purpose of this paper is to address the conceptual underpinnings for RFI. We discuss the process of developmental learning based upon brief observations of three children with Down syndrome playing by themselves. We observe that the most salient characteristic of children's play is the extent to which they practise or repeat the developmental behaviours that characterise their current developmental functioning. Although children's developmental functioning is assessed by their new and emerging developmental skills, consistent with Piaget's concept of assimilation, children's developmental learning appears to be highly dependent upon massive amounts of spontaneous practice of their existing developmental behaviours. In addition we review data from descriptive and intervention studies that we recently published which indicate that parental responsive interaction enhances children's spontaneous activity, and that children's spontaneous activity is correlated with their rate of development. We conclude that RFI enhances children's development less by teaching the skills and behaviours that characterise higher levels of developmental functioning and more by encouraging children's assimilative learning which results from their practising and repeating the developmental behaviours they have already learned.

Creating support for families of children with Down syndrome with a co-diagnosis: A survey

Medlen

Little is known about the effects on families of having a child with Down syndrome and an additional diagnosis (co-diagnosis). In fact, little is known about the incidence of specific co-diagnoses or the methods of reaching these diagnoses. However, there is an interest in improving diagnostic tools and support mechanisms for people with Down syndrome who have a co-diagnosis such as autism spectrum disorder, attention deficit disorder (ADD), obsessive-compulsive disorder (OCD), or other behavioural and medical diagnoses.

The development of literacy skills in children with Down syndrome: Implications for intervention

Snowling, Nash, and Henderson

The cognitive profile observed in Down syndrome is typically uneven with stronger visual than verbal skills, receptive vocabulary stronger than expressive language and grammatical skills, and often strengths in reading abilities. However, there is considerable variation across the population of children with Down syndrome. We begin by outlining some of the methodological issues that surround research on literacy development in Down syndrome before surveying what is known about literacy and literacy-related skills. We proceed to review interventions to promote reading in school-age children with Down syndrome and conclude with directions for future research.

Snowling, Nash, and Henderson. (2008) The development of literacy skills in children with Down syndrome: Implications for intervention. Down Syndrome Research and Practice, (), -.