Journal of Intellectual Disability Research最新文献

{"title":"Challenging behaviour and its correlates in preschool-aged children with an intellectual disability in Saudi Arabia","authors":"S. Alarifi,&nbsp;L. Denne,&nbsp;R. P. Hastings","doi":"10.1111/jir.13109","DOIUrl":"10.1111/jir.13109","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Young children with an intellectual disability have a higher risk of developing challenging behaviour (CB). Early identification of risk factors for CB allows for earlier intervention. The aim of the current study was to assess the prevalence and correlates of CB in preschool-aged children with an intellectual disability in Riyadh (Saudi Arabia).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>One hundred twenty parents of preschool-aged (3–6 years old) children who had been diagnosed (DSM-5 criteria) with an intellectual disability completed an online cross-sectional survey that included demographic, CB and child adaptive skills measures. The relationship between CB and 15 potential correlates (e.g. gender and degree of disability) was examined using independent samples t-tests and chi-squared tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Most preschool-aged (3–6 years old) children with an intellectual disability exhibited CB (78.8%, 95% CI [70.3, 85.8]), with a 63.2% prevalence rate for self-injurious behaviours (95% C [53.8, 72.0]), a 57.6% rate for aggressive destructive behaviours (95% CI [48.2, 66.7]) and a 25% rate for stereotypy (95% CI [17.7, 34.0]). The likelihood of a child engaging in self-injurious and stereotyped behaviours was higher in those with autism and intellectual disability. Children with Down syndrome displayed fewer stereotyped behaviours. Low adaptive skill levels were associated with increased overall CB, self-injurious and stereotyped behaviours.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The identified correlates of CB in this population and cultural context align with the international evidence base. Findings have implications for the importance of early systematic screening of CB in preschool-aged children in Saudi Arabia and other similar contexts. Preventative measures are suggested for preschool-aged children with an intellectual disability who are more likely to demonstrate CB, such as those with autism and poor adaptive behaviours.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13109","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138487761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics of people with intellectual disability admitted to hospital with constipation: identifying possible specific high-risk factors","authors":"R. Laugharne,&nbsp;M. Wilcock,&nbsp;J. Rees,&nbsp;D. Wainwright,&nbsp;N. Newton,&nbsp;J. Sterritt,&nbsp;S. Badger,&nbsp;R. Bishop,&nbsp;P. Bassett,&nbsp;R. Shankar","doi":"10.1111/jir.13108","DOIUrl":"10.1111/jir.13108","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with intellectual disabilities (ID) die on an average 20 years earlier to the general population. They have higher rates of multimorbidity and polypharmacy. Around 25% of people with ID report chronic constipation. The England Learning Disabilities Mortality Review found that nearly 25% of deaths identified constipation as a long-term health problem. However, the likely risk factors for constipation related harm are poorly enumerated. We sought to identify possible specific high-risk factors by examining the clinical characteristics of people with ID admitted to hospital with constipation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data of people with ID admitted with constipation in two general hospitals covering a population of 1.3 million from 2017 to 2022 were reported using the STROBE guideline for cohort studies. Collected data included age, gender, intellectual disability severity, recorded medication, presenting complaint and co-morbidities. The medication anticholinergic burden was calculated using the anticholinergic burden scale. Continuous variables were summarised by mean and standard deviation if normally distributed, with categorical variables summarised by the number and percentage in each category.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 46 admissions (males 52%), 57% had moderate to profound ID, 37% had epilepsy, 41% prescribed antiseizure medication (ASM) and 45% were on laxatives. Average age was 46 years. The anticholinergic burden score mean was 2.3 and median, one.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We can hypothesise that people with more severe ID, suffering from epilepsy and on ASM may be more at risk of developing severe constipation. Some admissions may be avoided with earlier use of laxatives in the community.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13108","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138460370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Child characteristics associated with child quality of life and parenting stress in Angelman syndrome","authors":"D. A. Hagenaar,&nbsp;K. G. C. B. Bindels-de Heus,&nbsp;K. Lubbers,&nbsp;L. W. ten Hoopen,&nbsp;A. B. Rietman,&nbsp;P. F. A. de Nijs,&nbsp;M. H. J. Hillegers,&nbsp;H. A. Moll,&nbsp;M. C. Y. de Wit,&nbsp;G. C. Dieleman,&nbsp;S. E. Mous","doi":"10.1111/jir.13106","DOIUrl":"10.1111/jir.13106","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and behavioural issues. Little is known on child health-related quality of life (HRQoL) in AS. AS family studies have reported elevated parenting stress and a high impact of the child's syndrome on the parent. It is unclear which factors influence child HRQoL and parenting stress/impact in AS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We collected data prospectively through standardised clinical assessments of children with AS at the ENCORE Expertise centre for Angelman Syndrome at the Erasmus MC Sophia Children's Hospital. A linear regression analysis was conducted for the following outcome variables: (1) child HRQoL (Infant and Toddler Quality of Life Questionnaire); (2) the impact of the child's syndrome on the parent (Infant and Toddler Quality of Life Questionnaire); and (3) parenting stress (Parenting Stress Index). Predictor variables were child genotype, epilepsy, sleeping problems (Sleep Disturbance Scale for Children), cognitive developmental level (Bayley Cognition Scale), autistic features (Autism Diagnostic Observation Schedule) and emotional/behavioural problems (Child Behaviour Checklist). Covariates were sex, age and socio-economic status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study sample consisted of 73 children with AS, mean age = 9.1 years, range = 2–18 years. Emotional/behavioural problems were the strongest significant predictor of lowered child HRQoL. Internalising problems were driving this effect. In addition, having the deletion genotype and higher age was related to lower child HRQoL. Sleeping problems were related to a higher impact of the child's syndrome on the parent. Finally, emotional/behavioural problems were associated with higher parenting stress. Cognitive developmental level, autistic features and epilepsy were not a significant predictor of child HRQoL and parenting stress/impact.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results suggest that interventions aimed at increasing child HRQoL and decreasing parenting stress/impact in AS should focus on child emotional/behavioural problems and sleeping problems, using a family-centred approach.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138444905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The physical and psychosocial impact of a school-based running programme for adolescents with disabilities","authors":"J. Campagna,&nbsp;K. Czyszczon,&nbsp;J. Little,&nbsp;C. Selby,&nbsp;L. Wick,&nbsp;D. Ferreira,&nbsp;K. Oriel","doi":"10.1111/jir.13104","DOIUrl":"10.1111/jir.13104","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Adolescents with disabilities have fewer opportunities to participate in community-based fitness programmes. The purpose of this study was to examine the impact of a school-based running programme at a local middle school in Lebanon, Pennsylvania, on fitness and quality of life (QoL) in children with physical and cognitive disabilities in a life-skills classroom.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Nineteen adolescents with diagnosed disabilities including intellectual disability (ID), autism spectrum disorder and Down syndrome were recruited from three life-skills classrooms to participate in a school-based running programme. The programme was designed to be implemented two times/week for 6 weeks by classroom teachers/aides. Physical therapy faculty and students developed the programme and assisted with implementation. Each session lasted 30 min, consisting of a warm-up and cooldown, relay races, games and timed runs. Pre- and post-test measures included physiological cost index (PCI) and Paediatric Quality of Life Inventory™ (PedsQL™). Pre- and post-test data were compared using Wilcoxon signed rank tests. Each week participants also completed a training log to reflect on the activity for the day.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Participants demonstrated significant improvements in PCI (<i>P</i> = 0.028) and the PedsQL™ (<i>P</i> = 0.008) following the running programme.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Results of this study suggest that participation in a 6-week school-based running programme may improve fitness and QoL in adolescents with disabilities.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138176325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional fitness of adults with Down syndrome: a longitudinal study","authors":"P. H. Boer","doi":"10.1111/jir.13107","DOIUrl":"10.1111/jir.13107","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Individuals with Down syndrome (DS) are born with and develop many health-related complications. The purpose of this study was to determine the longitudinal functional fitness profile of adults with DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The functional fitness of adults with DS was tested twice, 12 years apart. Sixty-six adults with DS were tested for body mass, stature and 10 functional fitness tests. Data were categorised according to gender and age-specific categories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Static balance, shoulder flexibility, trunk strength and aerobic capacity deteriorated significantly with medium to large effect sizes for both DS men and women (most age categories). For women, dynamic balance deteriorated significantly, and for men, leg- and upper body-strength deteriorated significantly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Practitioners working in the field of adapted physical activity should take cognisance of the functional fitness ageing profile of adults with DS and timeously develop habitual physical activity interventions to reduce the effect of accelerated ageing experienced by this population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107591464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Secondary analysis of large quantitative datasets (or doing research with other people's data)","authors":"G. Llewellyn,&nbsp;H. Ouellette-Kuntz,&nbsp;E. Emerson","doi":"10.1111/jir.13101","DOIUrl":"10.1111/jir.13101","url":null,"abstract":"<p>Over the past decade, secondary analysis of large quantitative datasets has begun to make a significant contribution to furthering our understanding of the lives of people (including children and young people) with intellectual disability and the inequities they experience compared to their nondisabled peers. This critical development brings population-level understanding about the lives of people with intellectual disability into line with the more established tradition of this research approach in areas such as child development, social policy, education, sociology, economics and public health. Secondary analysis in these fields has been primarily undertaken on either large-scale health or social surveys or clinical/administrative data held by health, social, census or welfare agencies or governments. This first special issue on this topic for the <i>Journal of Intellectual Disability Research</i> demonstrates that similar benefits can result from secondary analysis as it becomes a more established feature of the intellectual disability research landscape.</p><p>Secondary analysis offers, among other benefits, the following three opportunities for improving our understanding of the lives of people with intellectual disability. The first is to better understand the overall prevalence of intellectual disability and prevalence among sub-groups of particular interest at a particular point in time and how this may change over time. The second is to describe and quantify the association between intellectual disability and indicators of health and well-being and broad social determinants of health and well-being such as income, housing, education, employment, discrimination, violence and social exclusion. Associations that may reflect risk factors for the incidence and/or prevalence of intellectual disability or the consequences of having an intellectual disability in specific contexts at a particular point in history. The third benefit comes from the opportunity to examine the barriers experienced by people with intellectual disability in accessing critical services such as health care or life opportunities such as employment and community participation. Linking national survey data and administrative datasets can bring additional opportunities such as tracing the service trajectories for people with intellectual disability and evaluating the reach of intellectual disability services compared to the nature and patterning of services and supports needs over time.</p><p>One particular benefit of secondary analysis is that it often allows each of these three areas to be explored using data that are reasonably representative of national or state/provincial populations. As such, findings from secondary analysis of large quantitative datasets can help establish points for national or regional policy change to reduce the inequities experienced by people with intellectual disability. Research using secondary analysis of large quantitative datasets can als","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On-field physical activity of Special Olympics athletes and Unified Partners during the 2022 Special Olympics World Unified Cup","authors":"L. R. Ketcheson,&nbsp;E. A. Pitchford,&nbsp;J. Hauck,&nbsp;F. Loetzner","doi":"10.1111/jir.13102","DOIUrl":"10.1111/jir.13102","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Special Olympics is a sport organisation spearheading efforts to increase physical activity accessibility through inclusive sport. The Unified Sports® initiative brings together Special Olympics athletes (with intellectual disabilities) and Unified partners (without a disability) in sport training and competition on the same team. The study aims to objectively evaluate differences in on-field physical activity levels between athletes and partners during the 2022 Special Olympics World Unified Cup, an international soccer (i.e., football) competition. Participants were Special Olympics athletes (<i>n</i> = 96; 44 females, 52 males) and Unified partners (<i>n</i> = 70; 34 females and 36 males) competing in the women's and men's tournaments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>On-field actigraph accelerometry measured physical activity from 166 players, over 29 matches, and totalling 493 player-matches.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the women's tournament, nearly identical estimates of moderate-to-vigorous physical activity levels (MVPA) were observed between athletes and partners (<i>P</i> = .409). However, a significant group difference was observed within a specific physical activity intensity category as partners accrued more minutes of very vigorous physical activity than athletes (<i>P</i> &lt; .001). In the men's tournament, no significant differences were also observed between athletes and partners for minutes of MVPA (<i>P</i> = .341), but athletes engaged in significantly more vigorous physical activity (<i>P</i> &lt; .001), and partners had more minutes of very vigorous physical activity (<i>P</i> &lt; .001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The results suggest that on-field physical activity levels were similar between players with and without intellectual disabilities during Unified Sports competition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Attention challenges in Kabuki syndrome","authors":"A. J. Kalinousky,&nbsp;T. Rapp,&nbsp;J. R. Harris","doi":"10.1111/jir.13100","DOIUrl":"10.1111/jir.13100","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Understanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual disability and other neurodevelopmental phenotypes, have attentional deficits. However, these studies looked at relatively small numbers of molecularly confirmed cases and often used retrospective clinical data instead of standardised assessments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifty-five individuals or caregivers of individuals with molecularly confirmed KS completed assessments to investigate behaviour and adaptive function. Additionally, information was collected on 23 unaffected biological siblings as controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individual scores of nearly 50% of the children with KS falling in the problematic range. Children with KS scored significantly higher than their unaffected sibling on nearly all behavioural categories. A significant correlation was found between Attention Problems scores and adaptive function scores (<i>P</i> = 0.032), which was not explained by lower general cognitive ability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We found that the rates of children with attentional deficits are much more elevated than would be expected in the general population, and that attention challenges are negatively correlated with adaptive function. When averaged across KS participants, none of the behavioural categories were in the clinically significant range except Attention Problems for children, which underscores the importance of clinicians screening for attention deficit hyperactivity disorder (ADHD) in children with KS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71424245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impaired communication ability in SOX11 syndrome","authors":"H. Smith,&nbsp;R. Al-Jawahiri,&nbsp;L. Stokes,&nbsp;M. Freeth,&nbsp;S. Fricke,&nbsp;D. Matthews,&nbsp;A. McNeill","doi":"10.1111/jir.13105","DOIUrl":"10.1111/jir.13105","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC-2).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Thirteen parent/carers of verbal individuals (aged 5–19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic diagnosis associated with communication impairment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For all individuals, the CCC-2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non-verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non-verbal communication and social relations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13105","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71424246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obesity, diabetes and their metabolic correlates in middle-aged adults with Down syndrome","authors":"J. A. Luchsinger,&nbsp;D. Pang,&nbsp;S. J. Krinsky-McHale,&nbsp;N. Schupf,&nbsp;J. H. Lee,&nbsp;W. Silverman,&nbsp;W. B. Zigman","doi":"10.1111/jir.13103","DOIUrl":"10.1111/jir.13103","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Obesity in adults without Down syndrome is associated with an adverse metabolic profile including high prevalence of pre-diabetes and diabetes, high levels of insulin, non-high-density lipoprotein (HDL) cholesterol, leptin and high-sensitivity C-reactive protein (hsCRP) and low levels of HDL and adiponectin. We examined whether obesity in middle-aged adults with Down syndrome is also related to an adverse metabolic profile.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study included 143 adults with Down syndrome, with a mean age of 55.7 ± 5.7 years and 52.5% women. Body mass index (BMI) was classified as underweight (BMI &lt; 18.5 kg/m²), normal (BMI 18.5–24.9 kg/m²), overweight (BMI 25–29.9 kg/m²) and obese (BMI ≥ 30 kg/m²). Diabetes was ascertained by history or by haemoglobin A1c (HbA1c) as normal glucose tolerance (HbA1c &lt; 5.7%), pre-diabetes (HbA1c 5.7–6.4%) and diabetes (HbA1c ≥ 6.5%). We measured non-fasting lipids, hsCRP, insulin, adiponectin and leptin.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The majority of the sample had an overweight (46.9%) or obesity (27.3%) status. However, there was a relatively low prevalence of pre-diabetes (9.8%) and diabetes (6.9%). Overweight and obesity status were not associated with lower HDL and adiponectin and higher insulin, non-HDL cholesterol and hsCRP as expected in adults without Down syndrome. However, overweight and obesity were strongly associated with higher leptin (<i>P</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The only metabolic correlate of obesity in middle-aged adults with Down syndrome was high leptin levels. Our findings are limited by non-fasting laboratory tests but suggest that middle-aged adults with Down syndrome do not have the adverse metabolic profile related to obesity found in adults without Down syndrome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71412563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}