122 resources found.

• Phonetic intelligibility testing in adults with Down syndrome
  Kate Bunton, Mark Leddy and Jon 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.
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  Down Syndrome Research and Practice (Online). 2008. doi:10.3104/reports.2027
• Parent/carer ratings of self-talk behaviour in children and adults with Down syndrome in Canada and the United Kingdom
  Paul Patti, Nancy Andiloro and Maureen 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.
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  Down Syndrome Research and Practice (Online). 2008. doi:10.3104/reports.2063
• Cytogenetic profile of Down syndrome cases seen by a general genetics outpatient service in Brazil
  Joice Biselli, Eny Goloni-Bertollo, Mariângela Ruiz and Érika 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.
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  Down Syndrome Research and Practice (Online). 2008. doi:10.3104/reports.2010
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.2009
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.2004
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.2005
• 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.
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  Down Syndrome Research and Practice. 2007. doi:10.3104/reports.2022
• 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.
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  Down Syndrome Research and Practice. 2007. doi:10.3104/reports.2011
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.1995
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.1998
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.1996
• 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.
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  Down Syndrome Research and Practice (Online). 2007. doi:10.3104/reports.1999
• Home and community literacy experiences of individuals with Down syndrome
  Brian Trenholm and Pat Mirenda
  This exploratory survey was conducted to gain a detailed understanding of the home and community literacy experiences of children, adolescents and adults with Down syndrome. The data were collected from 224 parents/guardians across Canada who were asked to indicate literacy goals and priorities for their children with Down syndrome, the literacy resources they and their children utilised at home and in the community, perceived barriers to their children's literacy attainment, and solutions for alleviating the barriers. The results were analysed according to age when appropriate, in order to better understand the course of literacy development. Overall, the number of respondents who indicated their children with Down syndrome could read and write appeared to be consistent with previously published estimates, including the number reporting advanced reading levels. The wide range of reading and writing materials observed in use at home appeared to be greater than the range of materials actually used by children with Down syndrome. Relatively few of the parents who read storybooks to their children reported asking higher-level questions, suggesting that some parents might benefit from support in this activity. Many respondents reported using the library, and many expressed concerns about the quality and scarcity of literacy programs. The results are discussed with regard to their implications for how parents, caregivers, teachers, and program providers can encourage literacy development in persons with Down syndrome, and suggestions for future research.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.303
• Changes in maternal age in England and Wales - implications for Down syndrome
  Elizabeth Crane and Joan Morris
  The risk of having a pregnancy with Down syndrome increases with maternal age. The percentage of all births in England and Wales to mothers aged 35 and over increased from 9% in 1989 to 19% in 2003. A 51% increase in the numbers of pregnancies with Down syndrome has been observed over the same time period (from 954 to 1440). Due to improvements in antenatal screening for Down syndrome and the subsequent termination of affected pregnancies, the total number of births with Down syndrome decreased from 770 in 1989 to 609 in 2003. However the number of births with Down syndrome to women aged 35 and over increased from 186 in 1989 to 310 in 2003 because of the increasing number of pregnancies amongst these women.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.304
• Temperament and behaviour problems in young children with Down syndrome at 12, 30, and 45 months
  Deborah Fidler, David Most, Cathryn Booth-LaForce and Jean Kelly
  Though cross-sectional studies have yielded important information regarding the trajectory of psychopathology in middle childhood and adolescence in Down syndrome, there has been little exploration of maladaptive behaviour in the earliest years of development. In this study, we explore the emergence of maladaptive behaviour in young children with Down syndrome (n = 24) and a mental age-matched comparison group (n = 33) of young children with developmental disabilities of mixed etiologies. Behavioural data (Bayley Scales of Infant Development, Infant Temperament Questionnaire, Achenbach's Child Behaviour Checklist) were collected for children in each group at 12 months, 30 months, and 45 months. Findings from this study suggest that the onset of internalising behaviour difficulties in young children with Down syndrome may emerge later in early development than in children with developmental disabilities of mixed/nonspecific etiologies. In addition, temperament at Time 1 appeared to be a much stronger predictor of maladaptive behaviour outcomes at Time 3 in the mixed comparison group than in the Down syndrome group. Implications of this trajectory of the early development of maladaptive behaviour in Down syndrome for intervention for young children with Down syndrome are discussed.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.302
• Language learning in Down syndrome: The speech and language profile compared to adolescents with cognitive impairment of unknown origin
  Robin Chapman
  Children and adolescents with Down syndrome show an emerging profile of speech and language characteristics that is typical of the syndrome (Chapman & Hesketh, 2000; Chapman, 2003; Abbeduto & Chapman, 2005) and different from typically developing children matched for nonverbal mental age, including expressive language deficits relative to comprehension that are most severe for syntax, and, in adolescence, strengths in comprehension vocabulary, improvements in expressive syntax, but losses in comprehension of syntax (Chapman, Hesketh & Kistler, 2002). Here we compare 20 adolescents with Down syndrome to16 individuals with cognitive impairment of unknown origin, statistically matched for age and nonverbal mental age, to show that the age-related strengths in vocabulary comprehension are not limited to the Down syndrome phenotype, but are limited to a certain type of vocabulary test: for both groups, performance on the Peabody Picture Vocabulary Test-3 is significantly greater than performance on the vocabulary subtest of the Test of Auditory Comprehension of Language-3, which does not differ from the syntax comprehension subtests. Vocabulary size, but not conceptual level, is a strength for adolescents with cognitive impairment. In contrast, deficits in auditory-verbal working memory, syntax and vocabulary comprehension, and narration of picture-books without an opportunity to preview them are all specific to the adolescent group with Down syndrome. The expressive language deficit disappears when a preview opportunity and picture support is given.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.306
• Speech intelligibility and childhood verbal apraxia in children with Down syndrome
  Libby Kumin
  Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily programming, combining, organising, and sequencing the movements necessary for speech. Historically, this difficulty, childhood verbal apraxia, has not been identified or treated in children with Down syndrome but recent research has documented that symptoms of childhood verbal apraxia can be found in children with Down syndrome. The survey examined whether and to what extent childhood verbal apraxia is currently being identified and treated in children with Down syndrome. The survey then asked parents to identify certain speech characteristics that occur always, frequently, sometimes or never in their child's everyday speech. There were 1620 surveys received. Survey results indicated that approximately 15% of the parents responding to the survey had been told that their child has childhood verbal apraxia. Examination of the everyday speech characteristics identified by the parents indicated that many more children are showing clinical symptoms of childhood verbal apraxia although they have not been given that diagnosis. The most common characteristics displayed by the subjects included decreased intelligibility with increased length of utterance, inconsistency of speech errors, difficulty sequencing oral movements and sounds, and a pattern of receptive language superior to expressive language. The survey also examined the impact of childhood verbal apraxia on speech intelligibility. Results indicated that children with Down syndrome who have clinical symptoms of childhood verbal apraxia have more difficulty with speech intelligibility, i.e. there was a significant correlation between childhood verbal apraxia and parental intelligibility ratings. Children with apraxia often do not begin to speak until after age 5. There was a significant correlation between speech intelligibility and age at which the child began to speak, i.e. children who began to speak after age 5 had lower parental intelligibility ratings. A diagnosis of difficulty with oral motor skills is more frequently given than a diagnosis of apraxia; 60.2% of parents had been given this diagnosis. According to survey results, it is rare (2%) for a diagnosis of childhood verbal apraxia to be made without a diagnosis of difficulty with oral motor skills.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.301
• Early learning and adaptive behaviour in toddlers with Down syndrome: Evidence for an emerging behavioural phenotype?
  Deborah Fidler, Susan Hepburn and Sally Rogers
  Background: Though the Down syndrome behavioural phenotype has been described as involving relative strengths in visuo-spatial processing and sociability, and relative weaknesses in verbal skills and motor planning, the early emergence of this phenotypic pattern of strengths and weaknesses has not yet been fully explored. Method: In this study, we compared the performance of eighteen 2 to 3-year-olds with Down syndrome to an MA-matched comparison group of nineteen 2 to 3-year-olds with mixed developmental disabilities, and an MA-matched comparison group of 24 children with typical development on two developmental measures: the Mullen Scales of Early Learning and the Vineland Adaptive Behaviour Scales. Results: While the specificity of the Down syndrome profile was (for the most part) not yet evident, results showed that toddlers with Down syndrome in this study did show emerging areas of relative strength and weakness similar to that which has been described in older children and young adults with Down syndrome. This pattern included relatively stronger social skills, weaker expressive language, and poor motor coordination. When this pattern of strengths and weaknesses was compared to the developmental profiles of the two comparison groups, socialisation strengths differentiated the Down syndrome group from the mixed developmental disabilities group.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.297
• A comparison of mainstream and special education for teenagers with Down syndrome: Implications for parents and teachers
  Sue Buckley, Gillian Bird, Ben Sacks and Tamsin Archer
  This article presents data from a research study designed to compare the achievements of teenagers with Down syndrome educated in mainstream classrooms or in special education classrooms throughout their full-time education. Progress is reported for speech and language, literacy, socialisation, daily living skills and behaviour. For all the teenagers, there is evidence of progress with age on all the measures except for communication. Communication continued to improve through teenage years for the included children but not for those in special education classrooms. There were no significant differences in overall outcomes for daily living skills or socialisation. However, there were large significant gains in expressive language and literacy skills for those educated in mainstream classrooms. Teenagers educated in mainstream classrooms showed fewer behavioural difficulties. Further, comparison with data published by these authors in an earlier study, showed no improvements in school achievements in special education over a 13 year period in the UK (1986-1999).
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.295
• Gross motor skill acquisition in adolescents with Down syndrome
  Sarah Meegan, Brian Maraj, Daniel Weeks and Romeo Chua
  The purpose of this study was to assess whether verbal-motor performances deficits exhibited by individuals with Down syndrome limited their ability to acquire gross motor skills when given visual and verbal instruction together and then transferred to either a visual or verbal instructional mode to reproduce the movement. Nine individuals with Down syndrome (6 males, 3 females) performed 3 gross motor skills. Both visual and verbal instructional guidance was given to the participants over a 4-day period. Twenty-four hours later, the participants were video recorded as they produced the movements (used as baseline measures). On Day 6, they were randomly assigned into verbal and visual groups and required to reproduce the skills while the experimenter provided either visual demonstration or verbal instructions depending on the group. Based on skill performance scores, participants in the verbal-motor performance group demonstrated a lower level of proficiency and an increased number of performance errors when compared to participants in the visual-motor performance group. Moreover, while the visual group demonstrated an increase in performance levels compared to baseline measures, the opposite effect was seen for the verbal group.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.298
• Parental strategies for assisting children to wait
  Monica Cuskelly, Anne Jobling, Linda Gilmore and Sheila Glenn
  This study examined parents' behaviours as they waited with their child. Children were presented with an attractively wrapped gift and then asked not to touch it until the experimenter returned from finishing some work in another room. Three parent groups and their children participated in the study - parents of children with Down syndrome, parents of children with intellectual disability from another cause, and parents of children who were developing typically. There were no significant differences between children in how long they were able to wait before touching the gift. The data from the first two groups were combined for all analyses after it was established that there were no significant differences between them. There were few significant differences between parents of a child with intellectual disability and comparison parents. The former group were more likely to be classified as Authoritarian than were comparison parents, however with one exception, parenting style was unrelated to the strategies parents used in the waiting situation. Very few parents in either group used the opportunity to teach or explicitly praise effective waiting strategies in their children.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.315
• The development of oral motor control and language
  Katie Alcock
  Motor control has long been associated with language skill, in deficits, both acquired and developmental, and in typical development. Most evidence comes from limb praxis however; the link between oral motor control and speech and language has been neglected, despite the fact that most language users talk with their mouths. Oral motor control is affected in a variety of developmental disorders, including Down syndrome. However, its development is poorly understood. We investigated oral motor control in three groups: adults with acquired aphasia, individuals with developmental dysphasia, and typically developing children. In individuals with speech and language difficulties, oral motor control was impaired. More complex movements and sets of movements were even harder for individuals with language impairments. In typically developing children (21-24 months), oral motor control was found to be related to language skills. In both studies, a closer relationship was found between language and complex oral movements than simple oral movements. This relationship remained when the effect of overall cognitive ability was removed. Children who were poor at oral movements were not good at language, although children who were good at oral movements could fall anywhere on the distribution of language abilities. Oral motor skills may be a necessary precursor for language skills.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.310
• Glucose-6-phosphate-dehydrogenase is also increased in erythrocytes from adolescents with Down syndrome
  Francisco Ordonez, Manuel Rosety-Plaza and Manuel Rosety-Rodriguez
  For some time it has been claimed that trisomic cells are more sensitive to oxidative stress since there is an imbalance in hydrogen peroxide metabolism due to an increase in superoxide dismutase (SOD) catalytic activity. We designed the present study to assess activity levels of antioxidant enzymes [superoxide dismutase (SOD), glutathione peroxidase (GPx), catalase (CAT) and glucose-6-phosphate-dehydrogenase (G6PDH)] in erythrocytes in 31 male adolescents with Down syndrome (mean age 16.3 ± 1.1). An increase of 35.2%, 15.3% and 14.9% in the catalytic activity of SOD, GPx and G6PDH respectively was observed in male adolescents with Down syndrome compared to age-matched controls. For CAT, a slight increase of 6.0% was also found. It is concluded that our data are consistent with previous evidence of the existence of oxidative stress in individuals with Down syndrome as revealed by significantly enhanced activities of SOD and GPx. The most striking feature was that G6PDH, in contrast to CAT, presented a similar behaviour. Further studies are required to identify other antioxidant enzymes in red blood cells as well as in white blood cells in order to increase the range of potential bioindicators of oxidative stress.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.318
• Sensory impairments and health concerns related to the degree of intellectual disability in people with Down syndrome
  Tuomo Määttä, Markus Kaski, Anja Taanila, Sirkka Keinänen-Kiukaanniemi and Matti Iivanainen
  The relationship between poor health and cognitive impairment is not fully understood yet. People with Down syndrome are prone to a number of health problems, including congenital heart defect, visual impairment, hearing loss, autoimmune diseases, epilepsy, early-onset Alzheimer's disease and intellectual disability. Our aim was to assess the impact of impaired health on cognitive performance in people with Down syndrome. A series of people with Down syndrome (n=129) were studied for their intellectual disability, sensory impairments and health concerns. The medical and psychological records of all persons with Down syndrome in the Intellectual Disability Service Register of Kainuu from 1970 to 2004 were analysed. The detected health issues were related to the individuals' cognitive levels. Visual impairment, poor dental health and acute neurological disease were associated with the severity of intellectual disability and ageing.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.317
• Perceptual-motor deficits in children with Down syndrome: Implications for intervention
  Naznin Virji-Babul, Kimberly Kerns, Eric Zhou, Asha Kapur and Maggie Shiffrar
  Early intervention approaches for facilitating motor development in infants and children with Down syndrome have traditionally emphasised the acquisition of motor milestones. As increasing evidence suggests that motor milestones have limited predictive power for long-term motor outcomes, researchers have shifted their focus to understanding the underlying perceptual-motor competencies that influence motor behaviour in Down syndrome. This paper outlines a series of studies designed to evaluate the nature and extent of perceptual-motor impairments present in children with Down syndrome. 12 children with Down syndrome between the ages of 8-15 years with adaptive ages between 3-7 years (mean age = 5.6 years +/- 1.45 years) and a group of 12 typically developing children between the ages of 4-8 years (mean age = 5.4 +/- 1.31 years) were tested on their ability to make increasingly complex perceptual discriminations of motor behaviours. The results indicate that children with Down syndrome are able to make basic perceptual discriminations but show impairments in the perception of complex visual motion cues. The implications of these results for early intervention are discussed.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.308
• Simultaneous treatment of grammatical and speech-comprehensibility deficits in children with Down syndrome
  Stephen Camarata, Paul Yoder and Mary Camarata
  Children with Down syndrome often display speech-comprehensibility and grammatical deficits beyond what would be predicted based upon general mental age. Historically, speech-comprehensibility has often been treated using traditional articulation therapy and oral-motor training so there may be little or no coordination of grammatical and speech-comprehensibility treatment. The purpose of this paper is to provide the rationale for and preliminary evidence in support of integrating speech and grammatical intervention using a type of recast treatment in six children with Down syndrome. Speech-comprehensibility and MLU growth in generalisation sessions occurred in 4/6 and 5/6 participants, respectively. Using multiple baseline design logic, two of these participants showed evidence of treatment effects on speech-comprehensibility and two in MLU in generalisation sessions, respectively. The study constitutes a conservative test of the intervention effects for reasons that are discussed. The theoretical and applied significance of these findings are discussed.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.314
• Mental health, behaviour and intellectual abilities of people with Down syndrome
  Tuomo Määttä, Tuula Tervo-Määttä, Anja Taanila, Markus Kaski and Matti Iivanainen
  The mental health, adaptive behaviour and intellectual abilities of people with Down syndrome (n=129) were evaluated in a population-based survey of social and health care records. Females had better cognitive abilities and speech production compared with males. Males had more behavioural problems than females. Behaviour suggestive of attention deficit hyperactivity disorder was often seen in childhood. Depression was diagnosed mainly in adults with mild to moderate intellectual disability. Autistic behaviour was most common in individuals with profound intellectual disability. Elderly people often showed decline of adaptive behaviour associated with Alzheimer's disease. Case descriptions are presented to illustrate the multitude of mental health and behavioural issues seen from childhood to old age in this population.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.313
• Specific instructions are important for continuous bimanual drumming in adults with Down syndrome
  Shannon (Robertson) Ringenbach, Heather Allen, Susan Chung and Michelle Jung
  The present study examined continuous and discrete bimanual drumming in response to different instructions in 10 adults with Down syndrome, 10 mental age-matched and 10 chronological age-matched groups. For continuous drumming, participants hit two drums with both hands at the same time following verbal (e.g., "up" and "down"), visual (e.g., video of both drumsticks moving up and down together) and auditory (e.g., sound of both drums being hit, then symbol being hit) instructions for 10 s. For discrete drumming participants hit two drums with both hands at the same time once in response to the instructions described above. In general, for all groups spatial measures showed a performance advantage when using the visual metronome in continuous tasks but no advantage with any instructions for discrete tasks.
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  Down Syndrome Research and Practice. 2006. doi:10.3104/reports.312
• What's it all about? Investigating reading comprehension strategies in young adults with Down syndrome
  Michelle Morgan, Karen Moni and Anne Jobling
  The purpose of reading is for the reader to construct meaning from the text. For many young adults with Down syndrome, knowing what the text is all about is difficult, and so for them the activity of reading becomes simply the practice of word calling. It is suggested in the literature that for those individuals with Down syndrome, learning can continue into adolescence and that this may be the optimal time for learning to occur. However, a review of the literature revealed limited empirical research specifically relating to the reading comprehension of young adults with Down syndrome. Recent findings from Latch-OnTM(Literacy And Technology Hands On), a research-based literacy and technology program for young adults with Down syndrome at the University of Queensland, revealed that comprehension remained the significant area of difficulty and showed least improvement (Moni & Jobling, 2001). It was suggested by Moni and Jobling (2001) that explicit instruction in comprehension using a variety of strategies and meaningful, relevant texts was required to improve the ability of young adults with Down syndrome to construct meaning from written texts. This paper is based on an action research project that was developed within the Latch-OnTM program. The project utilised a modification of Elliot's (1991) action research model and was conducted to investigate specific teaching and learning strategies that would enhance the reading comprehension of young adults with Down syndrome. The participants were 6 young adults with Down syndrome ranging in age from 18 to 25 years. As the data from this project are still being analysed, preliminary findings of one participant are presented as a case study. The preliminary findings appear to indicate that the program of specific teaching and learning reading comprehension strategies used in this project was beneficial in the participant's reading comprehension.
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  Down Syndrome Research and Practice. 2004. doi:10.3104/reports.290
• Parental experiences of feeding problems in their infants with Down syndrome
  Eilene Lewis and Alta Kritzinger
  Although feeding difficulties in infants with Down syndrome are described in the literature, the experiences of parents regarding the feeding problems of their infants are largely omitted. In order to promote closer collaboration with families and speech-language therapists in early communication intervention, the study investigated some experiences of a group of parents concerning the feeding problems of their infants with Down syndrome. A descriptive survey approach was implemented to collect quantitative data. The results revealed the type of feeding problems and associated conditions occurring in the infants of the twenty participants; the type of feeding methods used; the assistance received during the feeding problems; the emotions experienced in relation to the feeding problems in their infants as well as suggestions made by the participants regarding the management of early feeding problems. Numerous feeding problems occurred in the infants and the variety of emotions experienced by the participants indicated that feeding therapy and counseling were required. As a result of the different conditions underlying the feeding problems of the participants' infants, a comprehensive approach, which included therapeutic and medical intervention, was necessary. In order to provide effective early communication intervention services from birth, the results indicated that the knowledge, skills and sensitivity of speech language therapists to identify caregiver needs, to provide appropriate family-focused intervention and to make recommendations regarding the management of feeding problems in infants with Down syndrome is of great importance
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  Down Syndrome Research and Practice. 2004. doi:10.3104/reports.291
• Hair zinc level in Down syndrome
  Ayse Yenigun, Ferda Ozkinay, Ozgur Cogulu, Canan Coker, Nurten Cetiner, Gonca Ozden, Oguz Aksu and Cihangir Ozkinay
  Immunological, endocrinological, and haematological abnormalities are relatively common in people with Down syndrome (Cuadrado & Barrena, 1996; Decoq & Vincker, 1995; Hestnes et al., 1991; Sustrova & Strbak, 1994; Nespoli, Burgio, Ugazio & Maccario, 1993; Kempski, Chessells & Reeves, 1997; Kivivuori, Rajantie, & Siimes, 1996; David et al., 1996; Gjertson, Sturm & Berger, 1999). Zinc is one of the elements that act in the maintenance of normal function of these systems. This study was designed to investigate zinc levels in children with Down syndrome. Zinc levels were measured in hair using atomic absorption spectrophotometry. The hair zinc level of 19 children with Down syndrome was compared with the zinc level of 11 typically developing children. Hair zinc levels were found to be significantly lower (p < .05) in those with Down syndrome (average 95.18 ± 56.10 ppm) than in the typically developing children (average 208.88 ± 152.37 ppm). Some of the problems experienced by children with Down syndrome may be due to these low zinc levels, but further research is required to confirm these results, and to establish any correlation with these problems.
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  Down Syndrome Research and Practice. 2004. doi:10.3104/reports.292
• Sleep related breathing disorders in adults with Down syndrome
  Onofrio Resta, Maria Foschino Barbaro, Tiziana Giliberti, Gennaro Caratozzolo, Maria Cagnazzo, Franco Scarpelli and Maria Nocerino
  Background. While the prevalence of obstructive sleep apnoea syndrome among children with Down syndrome is reported to vary from 30 to 50%, the nocturnal respiratory patterns of adults with Down syndrome is not well known. Objectives. The aim of this study is to evaluate sleep related breathing disorders in a sample of adults with Down syndrome. Methods. We studied the nocturnal respiratory patterns of 6 adults with Down syndrome, aged 28 to 53 years. All participants were monitored for 8 hours using a 12 channel polysomnograph. Respiratory events (apnoeic and hypopnoeic) were classified as obstructive or central, in relation to the presence or the absence of paradoxical breathing. Results. All participants had respiratory pauses during sleep. 5 of them had an apnoea hypopnoea index >10, justifying the diagnosis of sleep apnoea syndrome. About 85% of the respiratory events were apnoeic, the others being hypopnoeic. Among all the respiratory events 89.2% were obstructive, whereas only 10.8% were central. The central events were almost always organised in very low and regular sequences and respiration frequently showed a true periodic pattern, consisting of short periods of augmented breath followed by central events causing oxygen desaturation. Conclusions. According to the literature and in conjunction with the current study's results it could be hypothesised that the nocturnal respiratory pattern of adults with Down syndrome depends on several pathogenetic factors such as age, severity of upper airway abnormalities, body mass index (BMI), other pathological conditions and age related brainstem dysfunction.
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  Down Syndrome Research and Practice. 2003. doi:10.3104/reports.138
• Early phonological awareness and reading skills in children with Down syndrome
  Esther Kennedy and Mark Flynn
  Increasingly, children with Down syndrome receive literacy instruction with the expectation of acquiring functional reading skills. Unfortunately, little is known about the processes underlying literacy skills in this special population. Phonological awareness contributes to literacy development in typically developing children, however, there is inconclusive evidence about these skills in younger children with Down syndrome. 9 children with Down syndrome (5;6 - 8;10 years) participated in this investigation. Due to the paucity of standardised phonological awareness measures for children with special needs, in particular children with Down syndrome, a variety of tasks were adapted from the literature. The assessment battery examined the skills of phonological awareness, literacy, speech production, expressive language, hearing acuity, speech perception, and auditory visual memory. The results suggest that children with Down syndrome are at risk for reading acquisition difficulties due to reduced phonological awareness skills. These deficits are in addition to delays caused by reduced cognitive skills. Only one of the participants was able to demonstrate rhyme awareness, which may have been due to task effects. Written word recognition ability was correlated with tests of phonemic awareness, and error analysis of the spelling and nonword reading tasks suggested grapheme phoneme connections deficits. Further research is needed to determine the best methods of assessment and intervention for phonological awareness in children with Down syndrome.
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  Down Syndrome Research and Practice. 2003. doi:10.3104/reports.136
• Performing movement sequences with knowledge of results under different visual conditions in adults with Down syndrome
  Naznin Virji-Babul, Jennifer Lloyd and Geraldine Van Gyn
  The purpose of this study was to examine the learning of movement sequences in individuals with Down syndrome under different visual information conditions. 10 adults with Down syndrome and 14 neurologically typical adults performed a sequence of movements under two different visual information conditions: full visual feedback of the limb and environment and no visual feedback of the limb. Participants were given knowledge of results of their total movement time after each trial. The entire task was presented as a game and movement time information was given as a "score" after each trial. Participants were also given verbal encouragement throughout the task. As expected, individuals with Down syndrome had significantly slower reaction and movement times than neurologically typical participants. Interestingly, however, mean reaction and movement time was not affected by the visual condition, in either group. Participants with Down syndrome improved their performance over the presented trials, in both visual information conditions. These findings indicate that providing knowledge of results of movement performance can facilitate the performance and coordination of movement sequences even under conditions where visual information of the moving limb is restricted.
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  Down Syndrome Research and Practice. 2003. doi:10.3104/reports.137
• Improving the classroom listening skills of children with Down syndrome by using sound-field amplification
  Lee Bennetts and Mark Flynn
  Many children with Down syndrome have fluctuating conductive hearing losses further reducing their speech, language and academic development. It is within the school environment where access to auditory information is crucial that many children with Down syndrome are especially disadvantaged. Conductive hearing impairment which is often fluctuating and undetected reduces the child's ability to extract the important information from the auditory signal. Unfortunately, the design and acoustics of the classroom leads to problems in extracting the speech signal through reduced speech intensity due to the increased distance of the student from the teacher in addition to masking from excessive background noise. One potential solution is the use of sound-field amplification which provides a uniform amplification to the teacher's voice through the use of a microphone and loudspeakers. This investigation examined the efficacy of sound-field amplification for 4 children with Down syndrome. Measures of speech perception were taken with and without the sound-field system and found that the children perceived significantly more speech in all conditions where the sound-field system was used (p < .0001). Importantly, listening performance with the sound-field system was not affected by reducing the signal-to-noise ratio through increasing the level of background noise. In summary, sound-field amplification provides improved access to the speech signal for children with Down syndrome and as a consequence leads to improved classroom success.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.124
• Phonological awareness in children with Down syndrome
  Helen Fletcher and Sue Buckley
  Research in the area of phonological awareness has mainly focused on the nature of the relationship between reading ability and awareness of phonemes. However, a recent study of phonological awareness in children with Down syndrome questioned the existence of any necessary relationship (Cossu, Rossini & Marshall, 1993). This paper describes a study of phonological awareness in children with Down syndrome with varying levels of reading ability. The sample consisted of 10 male and 7 female children with Down syndrome (aged 9 years 2 months to 14 years 5 months). All children received a battery of tests which consisted of assessments of: 1) phonological awareness, 2) reading and spelling competence, 3) non-word reading and spelling ability, and 4) non-verbal measures. Children with Down syndrome demonstrated measurable levels of phonological awareness. Significant positive correlations were found between phonological awareness and: reading and spelling competence, ability to spell non-words and non-verbal measures.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.123
• Language in ageing persons with Down syndrome
  Jean Rondal and Annick Comblain
  Several cross-sectional studies and one longitudinal study were conducted on the language abilities of various cohorts of persons with Down syndrome aged between 14 and 50 years. No significant difference was observed on any of the receptive and productive morphosyntactic and lexical measures used, suggesting no marked change in the language of these persons from adolescence onto late adulthood. Repeated measures of cerebral metabolic rate (CMR) for fluorodeoxyglucose using a Positron Emission Tomography were made over a 4-year interval with 7 participants with Down syndrome aged between 37 and 49 years. A gradual decrease in global CMR for both cerebral hemispheres and for each participant was documented. It was particularly marked for 3 participants. However, no language deterioration could be associated with their marked lowering in CMR.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.122
• Oesophageal atresia and Down syndrome
  Sebastiano Bianca, Marco Bianca and Giuseppe Ettore
  Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our finding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher than expected and more than reported in other studies where the association was present in 0.5% of cases. Our results confirm that the relationship between Down syndrome and oesophageal atresia is a non random association and the observation of this association in several populations with different genetic backgrounds allows us to conclude that a causal relationship may exist between Down syndrome and oesophageal atresia.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.127
• Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?
  Corrado Romano, Rosa Pettinato, Letizia Ragusa, Concetta Barone, Antonino Alberti and Pinella Failla
  Zinc plays a central role in the immune system and has been found to be significantly reduced in people with Down syndrome. The effectiveness of zinc supplementation in people with Down syndrome has been reported with discordant results. A comparison was made between a range of clinical and biochemical variables and zinc levels in 120 individuals with Down syndrome. Two groups of participants, one with normal zinc levels and the second with low zinc levels, were compared on the following measures: growth hormone secretion, IgA and IgG antigliadin antibodies, presence of coeliac disease, T3, T4, fT3, fT4, TSH, hypothyroidism, hyperthyroidism, CD4/CD8 ratio, total immunoglobulins G and subclasses. No significant difference was found between the two groups, except for IgG4 which was, unexpectedly, significantly decreased in the group with normal zinc levels. In conclusion, an impairment of zinc blood level in individuals with Down syndrome does not necessarily impact on the organs and systems evaluated here.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.126
• Cancer incidence in persons with Down syndrome in Israel
  Lital Boker and Joav Merrick
  The purpose of this study was to assess the incidence rates of leukaemia and other malignancies in persons with Down syndrome in Israel. The target population consisted of all persons with Down syndrome in the period of 1948-1995 and the study population was divided into two subgroups: (1) Persons born in Israel between 1979-95 (registry group) and (2) Persons currently or past-institutionalised, born before 1979 (institution group). The study population was linked to the Cancer Registry and cases that had been diagnosed through December 1995 were subsequently identified. The observed incidence rates were compared to expected rates in the general population. Standardised Incidence Ratios (SIR) and 95% confidence intervals were computed for each disease category. Analyses of results were performed separately for each subgroup of our study population. In the registry group seven cancer cases were observed as compared to 1.5 expected (SIR=4.67 95% CI 1.9-9.6), all of which were leukaemia cases. For the institution group a total of 17 cancer cases were observed compared to 12.8 expected. These included four cases of leukaemia (SIR=6.90 95% CI 1.9-17.7). An excess of gastric cancer in males, based on two cases (SIR=11.9 95% CI 1.3-42.9) was also observed. The significant excess of leukaemia in the Down syndrome population in Israel is in accordance with other international studies. The excess of gastric cancer in males with Down syndrome, which has not been reported before, should be further explored.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.128
• Oxidative stress in Portuguese children with Down syndrome
  Monica Pinto, Joaquim Neves, Miguel Palha and Manuel Bicho
  Background - Individuals with Down syndrome have an accelerated process of ageing which is thought to be associated with oxidative stress. Aim - Since Zn/Cu superoxide dismutase is increased by about 50% in children with Down syndrome, glutathione and other less known antioxidant mechanisms were studied to determine whether there were changes in reactive oxygen species. Methods - Plasma reduced and oxidised glutathione and red blood cells enzymes including acid phosphatase, methemoglobin reductase and transmembrane reductase were evaluated in Portuguese children with Down syndrome and their siblings, who were used as a control group. Results - No significant differences were found between the study and control groups. A negative correlation was noted between total glutathione and acid phosphatase in the siblings without Down syndrome, but not in the children with Down syndrome. Conclusion - Although it is claimed that the production of hydrogen peroxide is enhanced in children with Down syndrome, their antioxidant mechanisms do not seem to be significantly different compared with their siblings. This may result in an excess of reactive oxygen species that could help to explain accelerated ageing in children with Down syndrome. Further studies will be needed to shed light on these mechanisms.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.134
• Work stress and people with Down syndrome and dementia
  Stephen Donaldson
  This study aimed to assess how staff ratings of challenging behaviour for people with Down syndrome and dementia affected the self-reported well-being of care staff. Data were collected from 60 care staff in 5 day centres in a large city in England. The data were collected by use of a questionnaire. There was no significant difference between those who cared for individuals with Down syndrome and dementia and those caring for service users with other non-specified learning disabilities without dementia, regarding their self-reported well-being. Self-reported well-being did correlate with staff rating of challenging behaviour in both those who cared for people with Down syndrome and dementia and those who did not care for such service users, with well-being declining as perceived challenging behaviour increased. The findings indicate that challenging behaviour prevention and reduction may be of benefit to both service users and care staff well-being.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.133
• Gender differences in coping strategies of parents of children with Down syndrome
  Anthony Sullivan
  Little research has been conducted on the reactions of parents, and fathers in particular, following the birth of a child with Down syndrome. Previous studies suggest that gender differences exist in coping strategies and a number of theories have supported this. The current study is informed by Pleck's (1981) Gender Role Strain model which attempts to explain the different socialisation processes males encounter which influence their development in our society. Questionnaires from Carver, Scheier and Weintraub's COPE inventory (1989) were given to parents (n = 150) to measure coping strategies and a number of gender differences were found. Females scored significantly higher than males in seeking instrumental and emotional support; in focusing on and venting emotions; and suppression of competing activities. An additional analysis carried out on parents of young children (n = 74) yielded similar results. The overall findings from the study provides mixed implications for Pleck's theory. Gender differences were found but no value can be ascribed to these different coping strategies.
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  Down Syndrome Research and Practice. 2002. doi:10.3104/reports.132
• Memory training for children with Down syndrome
  Frances Conners, Celia Rosenquist and Lori Taylor
  One well-established fact concerning cognitive and language development in individuals with Down syndrome is that working memory is particularly poor, with auditory working memory worse than visual working memory. Working memory serves the functions of control, regulation, and active maintenance of information and is critical in daily complex cognitive activities. Thus, there is a strong need to find effective and practical interventions targeted at improving working memory in individuals with Down syndrome. The present paper reviews research on rehearsal training and concludes that it can be used successfully to increase working memory in individuals with Down syndrome. However, there are still questions about whether auditory working memory can be improved reliably, whether improvement can be maintained over the long term, and whether improvement exists beyond any effect of increased attention. We describe our in-progress study which addresses these concerns
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.111
• The linguistic and cognitive profile of Down syndrome: Evidence from a comparison with fragile X syndrome
  Leonard Abbeduto, Melissa Pavetto, Erica Kesin, Michelle Weissman, Selma Karadottir, Anne O’Brien and Stephanie Cawthon
  In this paper, we report on the results of our research, which is designed to address two broad questions about the cognitive and linguistic profile of Down syndrome: (1) Which domains of functioning are especially impaired in individuals with Down syndrome? and (2) Which aspects of the language and cognitive profile of Down syndrome are syndrome specific? To address these questions, we focused on three dimensions of the Down syndrome profile - receptive language, expressive language, and theory of mind ? and made comparisons to individuals with fragile X syndrome, which is an X-linked form of intellectual disability. We identified Down syndrome impairments on all three dimensions that were substantially greater than those seen in nonverbal cognition and that were not shared by individuals with fragile X syndrome. Clinical implications of these findings are considered.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.109
• The relation between the psychological functioning of children with Down syndrome and their urine peptide levels and levels of serum antibodies to food proteins
  Egil Nygaard, Karl Ludvig Reichelt and Joseph Fagan
  Aims: To investigate the relation between psychological functioning of subjects with Down syndrome, and their levels of urine peptide and serum antibodies to food proteins. Methods: 55 children with Down syndrome in a cross-sectional study. Psychological functioning was measured by the Stanford-Binet Intelligence Scale: Fourth Edition, McCarthy Scales of Children's Abilities and Fagan's computer based test of novelty preference. Results: The participants, and their siblings, were found to have significantly increased total urine peptide levels. There were no significant correlations between peptide levels and psychological functioning. Significantly increased levels of IgG activity to gliadin and gluten, and IgA activity to gliadin, gluten and casein were found. There were significant negative correlations (Spearman r=-0.13 to -0.51) between psychological functioning, and IgG and IgA activity to gliadin and gluten. Conclusions: A significant relation between antibodies to gluten and psychological functioning was documented. The mechanism and potential causal link are still unknown.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.107
• Implicit versus explicit memory function in children with Down and Williams syndrome
  Stefano Vicari
  The present study was aimed at evaluating implicit memory processes in participants with Williams syndrome and comparing them to children with Down syndrome and to mental-age matched typically developing children. For this purpose, tests of verbal and visuo-perceptual explicit memory, verbal and visual repetition priming as well as procedural learning tasks were administered to 12 participants with Williams syndrome, 14 with Down syndrome and 32 typically developing children. Participants with Williams syndrome showed a level of repetition priming similar to that of mental-age typically developing controls. In contrast, children with Williams syndrome showed a reduced learning rate in the two procedural tasks. As regards children with Down syndrome, we document comparable implicit memory abilities. In contrast, regarding explicit memory, typically developing children performed better than individuals with Down syndrome. This finding is relevant for our knowledge about the qualitative aspects of the anomalous cognitive development in individuals with intellectual disabilities and the neurobiological substrate underlying this development.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.112
• Refractive errors and visual anomalies in Down syndrome
  Joav Merrick and Kenneth Koslowe
  A comparatively high incidence of ocular and orbital abnormalities has been reported in persons with Down syndrome. Eighty six children (50% male, 50% female) with Down syndrome in several institutions for individuals with learning difficulties (age range 5-18 years, mean 12.5) were examined for visual impairment in order to relate the ocular impairment to the level of learning difficulty. 6% had mild, 7% moderate, 45% severe and 42% profound learning difficulty. 9% of the children had no refractive errors. A significant (P<0.01) positive correlation was found between progressive amounts of strabismus and ocular pathology with increasing amount of learning difficulty. On the other hand no correlation was found between refractive errors and the level of learning difficulty. Due to the significant number of ocular disorders found it is recommended that all children with Down syndrome should have an eye examination during the first six months of life and annually thereafter.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.105
• Characterisation of the somatic evolution of Portuguese children with Trisomy 21 - Preliminary results
  Armando Fernandes, Ana Mourato, Mª Xavier, David Andrade, Cláudio Fernandes and Miguel Palha
  We present preliminary results of a cross-sectional study which had the following objectives: 1- to develop percentile curves of weight, height and head circumference of Portuguese children with Trisomy 21 from 0 to 48 months of age; 2- a comparison of the growth of children with Trisomy 21 with a control population of their siblings, and 3- a comparison between the growth of Portuguese and American children with Trisomy 21 (based on the data of Cronk et al). We conclude that: 1- there is growth delay (weight, height, head circumference) in the Portuguese children with Trisomy 21, in all of the parameters evaluated and in all age groups; 2- Portuguese children with Trisomy 21 present values similar to those obtained by Cronk et al until 24 months of age; 3- from the age of 30 months onward Portuguese children with Trisomy 21 were heavier and taller than American children with Trisomy 21. This supports the usefulness of percentile curves specifically for Portuguese children with Trisomy 21.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.106
• Motivation and learning styles in young children with Down syndrome
  Jennifer Wishart
  There are both psychological and biological reasons to expect that certain areas of learning will present young children with Down syndrome with significant problems. Knowledge of the neurological underpinnings of these specific difficulties can often allow compensatory teaching strategies to be put in place, however, and some of these have proved highly effective. The impact of the psychological environment on the progress of development in children with Down syndrome is less well understood. Experience of how others respond to their attempts at understanding the physical and social world and the balance of successes and failures they experience in their early learning are both likely to influence the approach to learning adopted when faced with mastering new skills. Findings from inter-linking studies of cognitive and socio-cognitive development which have explored learning behaviours at different ages and at different developmental stages illustrate how a learning style can sometimes evolve over time in which less than efficient use is made of current levels of cognitive ability. Social ploys are sometimes used to avoid engagement in learning, with the net effect that opportunities to learn new skills are not fully exploited and old skills are sometimes inadequately consolidated. Findings of a misuse of social skills in cognitive contexts do not necessarily provide support for the widely-held view that social understanding is an area of strength in children with Down syndrome and less vulnerable to disruption than cognitive development. Data from a recent study of face-processing abilities suggest that there may in fact be a specific weakness in a fundamental skill normally underpinning the development of social understanding: the ability to recognise differences in emotional expressions. The children with Down syndrome in this study had few problems in correctly identifying individual faces but evidenced difficulties in reliably interpreting the emotional expressions portrayed in these faces. These findings are consistent with the emerging picture of neurological disruption in Down syndrome and with what is known of the neurology underlying this key component in social cognition. As most learning takes place in a social context, the findings have implications for adult-child and child-child learning partnerships and would seem to merit further investigation.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.113
• Sharing laughter: The humour of pre-school children with Down syndrome
  Vasudevi Reddy, Emma Williams and Amy Vaughan
  Humour and laughter have often been portrayed as fundamentally cultural and social phenomena. They can be used to tell us about children's ability to engage socially and to understand others, but have rarely been explored for this purpose. The present paper summarises the results of a study of simple forms of humour in children with Down syndrome and with autism, two groups which are reported to differ in their sociality and _ interpersonal understanding. Sixteen children with Down syndrome and 19 children with autism, matched on non-verbal mental age, participated in a cross-sectional study. Parental reports and video-tapes of naturalistic interaction between parents and children were analysed to show that although there were no overall differences in the presence or frequency of child or parent laughter between the two groups, there were differences in what sorts of events were more likely to prompt child laughter, the extent to which child laughter was shared, and how the children responded to others' laughter. The children with Down syndrome were more likely than the children with autism to laugh at funny faces and socially inappropriate acts and less likely to laugh in strange or inexplicable situations, and more likely to laugh at shared events. They also responded to others' laughter with attention or smiles more, and tried to re-elicit it through acts of clowning. Children with Down syndrome are thus active participants in humour and laughter, sharing it at both an emotional and a cultural level.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.121
• Delay of gratification in young adults with Down syndrome
  Monica Cuskelly, Maria Einam and Anne Jobling
  Thirty-one young adults (17-23 years of age) with Down syndrome participated in two self-imposed delay of gratification trials. Thirty-six and forty-eight percent waited for the experimenter to return (15 minutes) on Trials 1 and 2 respectively, and thirty-six percent waited for the experimenter on both occasions. Expressive language differentiated those who waited from those who did not. A discriminant analysis which included measures of expressive language, temperament characteristics and parental attitudes to childrearing gave very good separation of the two groups. Directions for future researched are discussed.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.115
• Down syndrome in Israel
  Joav Merrick
  The incidence of Down syndrome was studied in Jerusalem for the years 1964-1970 showing an overall incidence rate of 2.43 per 1,000 live births. A National Down Syndrome Register was established in 1978 and data on annual incidence and mortality rates from 1979-1997 is presented. The incidence in 1997 was 1.0 per 1,000 live births, but 2.32 per 1,000, when live births and terminated pregnancies are summed. Infant mortality has generally decreased in the past 20 years in Israel, and a decrease in infant mortality in Down syndrome has also been noted. This is due to better medical treatment and increased parental involvement in the care for infants with Down syndrome.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.104
• Online data collection with special populations over the World Wide Web
  Michael Marcell and Amanda Falls
  The quick ascendance of the World Wide Web as the dominant vehicle for Internet communication has recently made experimentation in a multimedia environment feasible on the Internet. Although web sites containing online psychology demonstrations and experiments for non-handicapped individuals have appeared in recent years (especially in the areas of cognitive and social psychology), there appear to have been few attempts to conduct online experimentation with special populations. We recently completed two online pilot studies of families with Down syndrome or Williams syndrome members: a) A survey that asks (via Likert rating scales, adjective checklists, multiple-choice style questions, and text-entry boxes) about family background, computer use, and temperament of the special needs family member; and b) An experiment (completed by an individual with special needs) that includes auditory and visual digit span tasks and a memory-for-orientation task in which responses are entered via mouse clicks. Recruiting began with e-mail announcements to representative Down syndrome and Williams syndrome discussion groups, listserves, and bulletin boards, and submission of the project's URL (http://www.cofc.edu/~marcellm/testaw.htm) and key indexing terms to selected search engines. This paper reviews technical aspects of developing the online programmes as well as the strengths and weaknesses of online vs. traditional laboratory-based research in relation to issues such as experimental control, delivery of instructions, experimenter bias, participant recruitment, sample heterogeneity, generalization, attrition, privacy, financial costs, data integrity, and ethics. We conclude by offering our thoughts on two ways of implementing online experimentation with special populations: a) Using a remote parent 'helper' as a proxy to work with the target individual; and b) Collaborating with professional colleagues in Web-based projects conducted in traditional laboratory settings.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.120
• Language and number in Down syndrome: The complex developmental trajectory from infancy to adulthood
  Sarah Paterson
  This paper examines language and number understanding in infants with Down syndrome and Williams syndrome and compares infant performance to that of adults. The cross-syndrome/ cross-domain studies demonstrate that the pattern of performance of infants with Down syndrome and Williams syndrome on two tasks assessing language and number cannot be derived from the pattern of proficiencies and impairments in the adult phenotypic outcome. Single word comprehension was assessed using a visual preference paradigm. All groups (Williams syndrome, Down syndrome, chronological age and mental age-matched controls) looked longer at the stimuli which matched the verbal label but the infants with Down syndrome and Williams syndrome were equally delayed (equivalent to their mental age controls). The similarity between the infants with Down syndrome and those with Williams syndrome did not parallel the difference present in the adult phenotypes, where vocabulary skill in Down syndrome is significantly lower than that in Williams syndrome. Number was assessed using a novelty preference paradigm, in which infants were familiarised with displays of 2 objects and then presented with 2 versus 3 objects. Infants with Williams syndrome discriminated between the familiar and novel numerosities. Infants with Down syndrome did not. Again, the difference between the Down syndrome and Williams syndrome infant groups did not parallel the pattern seen in the adult phenotypes, where individuals with Down syndrome performed better than those with Williams syndrome. It is therefore crucial to characterise the infant state, in order to understand fully the developmental trajectories of atypical groups.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.117
• Counting and cardinal understanding in children with Down syndrome and typically developing children
  Joanna Nye, Michael Fluck and Sue Buckley
  This study compares the procedural counting ability (independently and with parental support) and conceptual understanding of cardinality of a group of children with Down syndrome and a group of typically developing children, matched for non-verbal mental age. Participants were 23 children with Down syndrome (chronological age range: 3.5 - 7 years; mental age range: 2.5 - 4 years) and 20 typically developing children (chronological age range: 2 - 4 years; mental age range: 2.5 - 4 years), and their main caregiver. The children were asked to count sets of toys (assessing procedural counting skills) and to give sets of toys (assessing understanding of cardinality), with set sizes between 2 and 18 items. The counting task was performed in two conditions, with and without parental support. The children were also asked to say the count word sequence aloud, to assess sequence production independent from object counting. The typically developing children produced significantly more number words altogether, longer standard number sequences and could count larger sets than the children with Down syndrome. Support from an adult improved performance on the count task significantly for both groups of children, and there was no significant difference between the groups in the degree of improvement, i.e. the zone of proximal development. No significant differences were found between the frequency of children (approximately one third) in each group who used counting to solve the give task, indicating an understanding of cardinality.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.116
• Mastery motivation in children with Down syndrome
  Sheila Glenn, Beverley Dayus, Cliff Cunningham and Maureen Horgan
  Mastery motivation refers to the intrinsic motivation children have to interact with their environments in order to learn about them. It appears early in life, and has been regarded by many researchers as a key motivator for development. It has also been suggested that young school age children with Down syndrome show lowered motivation to perform tasks. It is important to know if this low motivation is present from the start, or develops as a result of environmental experiences; studies of mastery motivation have been one way of investigating this issue. However definitions of mastery motivation, and hence empirical studies, have varied. Thus this paper starts by revisiting the issues surrounding definition and measurement. There is general agreement on some issues: that mastery motivation is intrinsic, that it is manifest in different behaviours as the child develops, that there are individual differences in mastery behaviour, and that these are affected by environmental factors. There is also current agreement that it is essential to remove the confound of differing levels of developmental competence by using individualised measurement. However there is disagreement about which behaviours best index mastery motivation. Some empirical work with infants with Down syndrome is reviewed, and results from a recent longitudinal study on the development of mastery motivation are presented. The results concurred with most others in the recent literature, suggesting that low mastery motivation is not inevitable in infancy in Down syndrome. Infants with Down syndrome showed similar patterns of development as typically developing children, with slight delays. It is argued that longitudinal studies are needed to demonstrate such patterns of development. As the children developed from 6 to 24 months mental age there was no evidence for decreasing levels of mastery motivation. Thus there was no support for the view that more failure experiences impact on levels of mastery motivation. In contrast caregivers did see their young children with Down syndrome as less object mastery oriented than did caregivers of typically developing children. The caregivers of children with Down syndrome were also significantly more directive in their interactions with their children, and there was some suggestion that individual differences in mastery behaviours were related to levels of mastery behaviours in their children. The final section speculates on reasons for these results, and makes suggestions for future work.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.114
• Debunking the pathological model - The functions of an Internet discussion group
  Robert Jones and Heledd Lewis
  In recent years there has been a profusion of resources about Down syndrome available on the World Wide Web and for increasing numbers of people the internet is the resource first contacted when new information is required on a topic. The present paper examined the function of a discussion group which is used primarily by parents of people with Down syndrome. Qualitative research methodology (content analysis) was used to analyse the daily discussions over a 5 month period in 1998 (February to July) and over a 2-week follow up period six months later (January 1999). The analysis revealed themes of celebration, seeing the child before seeing the handicap, hope and optimism, a sense of purpose in life and of being like a family within this group.
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  Down Syndrome Research and Practice. 2001. doi:10.3104/reports.103
• The relevance of a nonword repetition task to assess phonological short-term memory in individuals with Down syndrome
  Annick Comblain
  Phonological short-term memory capacity is generally measured with a word span task or a digit span task. Another way to measure it is to use a nonword repetition task. Gathercole and Adams (1993) claimed that this procedure can be used with children as young as two-years old. It seems that in normally developing children the quality of nonword repetition is influenced both by the length of nonwords and by the degree of wordlikeness. Can the phonological short-term memory of individuals with Down syndrome be assessed with a nonword repetition task? In order to answer this question, we decided to replicate Gathercole and collaborators' experiments (1991,1993) but with individuals with Down syndrome. The quality of nonword repetition in individuals with Down syndrome is, as in normally developing children, influenced both by the length of nonwords and by their degree of wordlikeness. Furthermore, our results seem to confirm the hypothesis which states that nonwords are temporarily stored in the phonological short-term memory system. As this system has a limited capacity, both normally developing children and people with Down syndrome recall more short nonwords than long nonwords. In conclusion, nonword repetition is a reliable task with which to assess phonological short-term memory in individuals with Down syndrome as well as in normally developing children.
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  Down Syndrome Research and Practice. 1999.