Journal of Intellectual Disability Research最新文献

{"title":"Behavioural phenotype of SYNGAP1-related intellectual disability","authors":"M. P. Kranak,&nbsp;G. Rooker,&nbsp;C. Smith-Hicks","doi":"10.1111/jir.13145","DOIUrl":"10.1111/jir.13145","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>SYNGAP1- related intellectual disability (SYNGAP1-ID) is a rare genetic disorder presenting with intellectual disability (ID), epilepsy, maladaptive behaviours and communication challenges. To date, few studies have assessed the context in which these maladaptive behaviours occur. This study aims to investigate the prevalence of problem behaviours, characterise the behavioural phenotype and use well-validated measures to explore variables that maintain the behaviours.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Our sample includes 19 individuals diagnosed with SYNGAP1-ID and their parents. Parents provided information on behaviours that their children engage in, as well as their general behavioural dispositions. Well-validated measures (e.g., the Repetitive Behaviour Scale-Revised, Sensory Profile-2 and Vineland Adaptive Behaviour Scale) were used. A subset of individuals underwent further direct experimental assessment of their problem behaviour to identify the variables maintaining those problem behaviours. Parental reports were analysed using nonparametric statistical analysis; the direct assessments of individuals' problem behaviour were analysed using visual analysis and validated supplemental measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All 19 individuals engaged in some form of maladaptive problem behaviour. Ratings of ritualistic, sameness and restricted behaviours measured by the RBS-R were commensurate with individuals diagnosed with idiopathic autism spectrum disorder (ASD) while self-injurious behaviours were endorsed at a higher level in SYNGAP1-ID when compared with idiopathic ASD. The problem behaviours in our cohort of patients with SYNGAP1-ID were maintained by automatic reinforcement and social attention and are positively correlated with atypical sensory responses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Individuals with SYNGAP1-ID engage in problem behaviours commensurate with other populations (e.g., those with ASD), they exhibit atypical response to sensory stimuli. Problem behaviours were frequently maintained by automatic reinforcement, which may result from a dysregulated sensory system. Children with SYNGAP1-ID may benefit from strategies used in persons with ASD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13145","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141086039","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 inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities","authors":"I. O. Lee,&nbsp;J. Wolstencroft,&nbsp;H. Housby,&nbsp;M. B. M. van den Bree,&nbsp;S. J. R. A. Chawner,&nbsp;J. Hall,&nbsp;IMAGINE ID Consortium,&nbsp;D. H. Skuse","doi":"10.1111/jir.13139","DOIUrl":"10.1111/jir.13139","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Children and young people (CYP) with intellectual and developmental disabilities (IDDs) have significant additional educational needs compared with the general population. In England, the government has established a system of education, health and care plans (EHCPs) to support children with special educational needs and disabilities, but disparities exist between the degree of need and the availability of support. We conducted a prospective UK national cohort study (IMAGINE) of children with rare pathogenic genomic variants, all of which are associated with IDD, to investigate associated neuropsychiatric risk. Subsequently, we obtained information from the UK's National Pupil Database on their educational progress through the state school system. We aimed to identify whether they had received EHCP provision and whether that support was associated with their family's socioeconomic status, region of domicile, ethnicity, sex, primary special educational needs (SEN) type, academic performance and mental health well-being.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We recruited 2738 CYP from England into the IMAGINE study between 2014 and 2019. The educational histories of the participants (6–28 years old, mean ± standard deviation = 14 ± 4 years, 56% male) were obtained from the Department for Education's National Pupil Database in 2021. Educational data included attainment scores from the Early Year Foundation Stage (&lt;5 years) to key stage 4 (15–16 years). Each family was assigned an index of multiple deprivation (IMD) score based on their home address postcode. Parents or carers rated their child's emotional and behavioural adjustment on the Strengths and Difficulties Questionnaire (SDQ). The association between receiving an EHCP and the child's IMD score, eligibility for free school meals, English region of domicile, ethnicity, sex, primary SEN type, academic attainment and SDQ score was investigated.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In this cohort, 78% of participants had received an EHCP. CYP living in the most deprived IMD deciles were substantially less likely to receive EHCP support than those in the least deprived decile, irrespective of their degree of intellectual developmental disability, academic performance or associated mental health problems. There were no sex differences. Children of Asian heritage were more likely to have been granted an EHCP than White children from equivalent IMD deciles. There were striking regional disparities. Participants living in London were significantly more likely to have been awarded an EHCP than participants living anywhere else in England, regar","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141080534","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":"A retrospective cohort study of prescription drug use among youth with intellectual/developmental disabilities in British Columbia","authors":"S. Marquis,&nbsp;N. E. Marquis,&nbsp;Y. Lunsky,&nbsp;K. M. McGrail,&nbsp;J. Baumbusch","doi":"10.1111/jir.13147","DOIUrl":"10.1111/jir.13147","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with intellectual/developmental disabilities (IDD) are known to have high rates of prescription drug use, particularly for psychotropic medications. This is of concern due to the many side effects associated with these medications and because of the risks of polypharmacy. In this paper we compare the most commonly dispensed drugs and all psychotropic medications for youth with IDD compared with youth without IDD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using population-level administrative health data over a 10-year period, this study examined medications dispensed to youth with an IDD aged 15–24 years compared with youth without an IDD. The most common medications dispensed and the number of youth they were dispensed to were determined. As well a wide variety of psychotropic medications were examined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were a total of 20 591 youth with IDD and 1 293 791 youth without IDD identified. Youth with IDD had higher odds of being dispensed pain medications, amoxicillin, salbutamol, levothyroxine and all the psychotropic medications (antidepressants, antipsychotics, anxiolytics, anti-adrenergic agents, mood stabilisers and stimulants). For youth with IDD, 6558 (31.85%) were dispensed two or more different psychotropic medications within a year, compared with 75 963 (5.87%) of youth without IDD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Compared to youth without IDD, youth with IDD had significantly higher odds of being dispensed most of the prescription medications studied, including all of the psychotropic medications. They were also twice as likely to be dispensed two or more medications from different classes of psychotropic drugs within the same year. These findings have important implications for the health of people with IDD and for their health care providers.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076050","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":"Validation of a German version of the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID-G) in Down's syndrome","authors":"G. Nuebling,&nbsp;O. Wagemann,&nbsp;S. Deb,&nbsp;E. Wlasich,&nbsp;S. V. Loosli,&nbsp;K. Sandkühler,&nbsp;A. Stockbauer,&nbsp;C. Prix,&nbsp;J. Levin","doi":"10.1111/jir.13144","DOIUrl":"10.1111/jir.13144","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS-AD) due to a triplication of the <i>amyloid precursor protein</i> gene. While several tools to diagnose and screen for DS-AD, such as the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID), are available in English, validated German versions of such instruments are scarce.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A German version of the DSQIID questionnaire (DSQIID-G) was completed by caregivers before attending our specialist outpatient department for DS-AD. All participants were assessed blind to DSQIID-G scoring using clinical and neuropsychological examinations, including the <i>Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities</i> (CAMDEX-DS). ICD-10 and amyloid/tau/neurodegeneration (A/T/N) criteria were applied to detect and categorise cognitive decline.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 86 participants, 43 (50%) showed evidence of cognitive decline. A definite diagnosis of DS-AD was reached in 17 (19.8%) and mild cognitive impairment in seven (8.3%) participants. Secondary causes of cognitive decline were determined among 13 (15.1%) participants, and in six (7%) cases, the diagnosis remained unclassifiable due to co-morbidities. Compared with cognitively stable individuals, participants with cognitive decline (<i>n</i> = 43) displayed higher DSQIID-G total scores [median (range): 3 (0–21) vs. 19 (0–48), <i>P</i> &lt; 0.001]. A total score of &gt;7 provided a sensitivity of 0.94 against a specificity of 0.76, to discriminate DS-AD and participants without cognitive decline according to ROC analysis. The convergent validity against the CAMDEX-DS interview score was good (<i>r</i> = 0.74), and split-half reliability (<i>r</i> = 0.96), internal consistency (Cronbach's α <i>r</i> = 0.96), test–retest reliability (<i>r</i> = 0.88) (<i>n</i> = 25) and interrater reliability (<i>r</i> = 0.81) (<i>n</i> = 31) were excellent.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The DSQIID-G showed excellent psychometric properties, including concurrent and internal validity and reliability. The cut-off value for screening was lower than in the original English validation study. For a screening instrument like DSQIID-G, a lower cut-off is preferable to increase case detection.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13144","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140957587","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":"Feeding practices and dietary intake in Brazilian children with Down syndrome: A cross-sectional study","authors":"M. C. R. S. Genovesio,&nbsp;L. S. Monteiro,&nbsp;A. V. da Silva,&nbsp;P. R. M. Rodrigues,&nbsp;A. P. Baumblatt,&nbsp;S. A. Ribas","doi":"10.1111/jir.13148","DOIUrl":"10.1111/jir.13148","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Studies investigating the quality of the diet and dietary intake of children with Down syndrome (DS) are required because the features attributed to the syndrome can affect growth, development and quality of life.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study was conducted with 77 Brazilian children with DS between 5 and 36 months of age receiving care at the multidisciplinary outpatient clinic of the University Hospital. Participants' sociodemographic, dietary and anthropometric data were collected from the care protocols. Dietary data were collected from 24-h recalls and dietary practices were assessed according to the WHO dietary guidelines. Associations between inadequate feeding practices and demographic variables were assessed using logistic regression models.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fruits, milk or infant formula, vegetables, beans and meat were among the five most consumed foods by the children investigated. Overall, we observed a high number of cases of early weaning (50.6%), low minimum dietary diversity (MDD; 40.3%), inadequate consistency for age (64.9%), early presence of ultra-processed foods (76.6%), sugars and sweets (33.8%) in the diet of the children with DS. In the associations of inadequate feeding practices by age group, low MDD [odds ratio (OR): 18.6; 95% confidence interval (CI): 3.4; 57.1] and inadequate consistency (OR: 6.65; 95% CI: 1.8; 24.7) were more frequent among children aged below 12 months while this relationship was inverse for early introduction of sugar and sweets (OR: 0.04; 95% CI: 0.01; 0.29).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings showed a high number of cases of inadequate dietary practices in children with DS investigated, which could adversely affect the long-term health of this population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916584","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":"Psychometric properties of the Beliefs About Adults with ID Scale in American physicians: Application of classical test and Rasch measurement theories","authors":"A. Bacherini,&nbsp;P. Anselmi,&nbsp;S. M. Havercamp,&nbsp;G. Balboni","doi":"10.1111/jir.13143","DOIUrl":"10.1111/jir.13143","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Physicians' erroneous assumptions about individuals with intellectual disability (ID) negatively impact the quality of care provided to this population. This study aimed to investigate the psychometric properties of the Beliefs About Adults with ID (BAID), an instrument we developed for measuring physicians' erroneous assumptions about adults with ID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two hundred ninety-two American physicians participated. Classical test theory and Rasch measurement theory were used to refine the scale (through item analysis, exploratory factor analysis, infit and outfit mean-squares statistics, and differential item functioning) and investigate its psychometric properties (functioning of the response scale, reliability, and validity).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The BAID provided a unidimensional, reliable, valid, and precise measure in assessing high levels of erroneous assumptions. It showed convergent and divergent validity with the different factors of a scale measuring attitudes towards ID. The BAID items were discriminant, non-redundant, unambiguous, and invariant across gender and previous ID training. The BAID response scale was found to be appropriate for measuring physicians' erroneous assumptions about adults with ID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>BAID is a brief instrument with good psychometric properties to assess erroneous assumptions about adults with ID in physicians of different genders and who have/have not previously received ID training. Therefore, it might be helpful for research and medical education purposes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916591","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":"Implementation of the International Classification of Diseases 11th revision behavioural indicators for disorders of intellectual development with co-occurring autism spectrum disorder","authors":"K. R. Lemay,&nbsp;C. S. Kogan,&nbsp;T. Rebello,&nbsp;J. W. Keeley,&nbsp;R. Bhargava,&nbsp;S. Buono,&nbsp;S. Cooray,&nbsp;P. Ginige,&nbsp;M. T. Kishore,&nbsp;J. V. S. Kommu,&nbsp;M. Recupero,&nbsp;A. Roy,&nbsp;P. Sharan,&nbsp;G. M. Reed","doi":"10.1111/jir.13146","DOIUrl":"10.1111/jir.13146","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The classification of mental, behavioural and neurodevelopmental disorders in the World Health Organization's International Classification of Diseases 11th revision (ICD-11) includes a comprehensive set of behavioural indicators (BIs) within the neurodevelopmental disorders grouping. BIs can be used to assess the severity of disorders of intellectual development in situations in which standardised measures of intellectual functioning and adaptive behaviours are not available or feasible. This international study examines the implementation characteristics of the BIs and compares them to standardised measures for assessing the severity of intellectual impairment and adaptive behaviours in disorders of intellectual development and autism spectrum disorder (ASD). The clinical utility of the ICD-11 and the fidelity of its application in international clinical settings were also assessed.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A total of 116 children and adolescents (5–18 years old) with a suspected or established diagnosis of disorders of intellectual development were included across four sites [Italy (&lt;i&gt;n&lt;/i&gt; = 18), Sri Lanka (&lt;i&gt;n&lt;/i&gt; = 19) and two sites in India (&lt;i&gt;n&lt;/i&gt; = 79)]. A principal component analysis was conducted to evaluate the application of the ICD-11 guidance for combining severity levels.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Assessment using the BIs showed a higher proportion of individuals classified with mild severity, whereas the standardised measures indicated a higher proportion of severe ratings. Additionally, individuals with co-occurring ASD tended to have more severe impairments compared with those without ASD, as indicated by both BIs and standardised measures. Overall, the BIs were considered clinically useful, although more time and consideration were required when applying the guidelines for individuals with a co-occurring disorder of intellectual development and ASD. The principal component analysis revealed one principal component representing overall disorders of intellectual development severity levels.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The ICD-11 BIs can be implemented as intended in international clinical settings for a broad range of presentations of individuals with neurodevelopmental disorders. Use of the BIs results in similar severity diagnoses to those made using standardised measures. The BIs are expected to improve the reliability of severity assessments in settings where appropriate standardised measures for intellectual and adaptive ","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140908978","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":"Assessment of dental and periodontal indices and Streptococcus mutans virulence in fragile X syndrome patients","authors":"Cristhiane Olivia Ferreira do Amaral,&nbsp;Kamila Rosamilia Kantovitiz,&nbsp;V. C. de Araújo,&nbsp;T. Marega,&nbsp;L. N. Teixeira,&nbsp;E. F. Martinez","doi":"10.1111/jir.13142","DOIUrl":"10.1111/jir.13142","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Fragile X syndrome (FXS) is the most common cause of hereditary genetic disorder in a single gene characterised by intellectual disability. Behavioural features such as autism, hyperactivity and anxiety disorder may be present. Biofilm development and pathogenicity of <i>Streptococcus mutans</i> may be altered because FXS renders the dental approach and oral hygiene more complex.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>The purpose of this study was to compare the levels of transcripts for VicRK and CovR of <i>S. mutans</i> isolated from FXS patients with the levels of transcripts for VicRK and CovR of standard strain ATCC, using a quantitative polymerase chain reaction (qPCR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The caries experience index was assessed by the International Caries Detection and Assessment System (ICDAS), Periodontal Condition Index (PCI) and Invasive Dental Treatment Need Index (INI).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The clinical index findings revealed a high rate of caries cavities and bleeding on probing of FXS patients. When VicRK and CovR transcript levels were compared with the reference strain, Fragile X patients were found to have significantly higher values.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The present study demonstrated that FXS patients have more adverse clinical conditions, with increased biofilm accumulation and virulence. When combined with behavioural abnormalities, these patients become even more vulnerable to dental caries.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876590","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":"Mortality in French people with polyhandicap/profound intellectual and multiple disabilities","authors":"I. Hamouda,&nbsp;K. Baumstarck,&nbsp;M.-A. Aim,&nbsp;A. Beltran Anzola,&nbsp;A. Loundou,&nbsp;T. Billette de Villemeur,&nbsp;L. Boyer,&nbsp;the EVAL-PLH group,&nbsp;P. Auquier,&nbsp;M.-C. Rousseau","doi":"10.1111/jir.13138","DOIUrl":"10.1111/jir.13138","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In recent decades, progress has been made in the care of people with polyhandicap/profound intellectual and multiple disabilities (PIMD) through a better understanding of the pathophysiology and the development of new care management and rehabilitation strategies adapted to these extreme pathologies. Although there is a lack of knowledge about the health status and care management of the oldest people, a better understanding of the natural course of life of people with polyhandicap/PIMD would consequently allow the optimisation of preventive and curative care management strategies. Few robust data on mortality and life expectancy have been documented for this population in France. Our aims are to estimate the median survival time and assess the factors associated with mortality in people with polyhandicap/PIMD receiving care in France.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study included people with polyhandicap/PIMD, followed by the French national cohort ‘Eval-PLH’ since 2015. These individuals were included in specialised rehabilitation centres and residential institutions. The people included in the first wave of the cohort (2015–2016) were eligible for the present study. Vital status on 1 January 2022 (censoring date) was collected in two ways: (1) spontaneous reporting by the participating centre to the coordinating team and (2) systematic checking on the French national death platform. According to the vital status, survival was calculated in years from the date of birth to the date of death or from the date of birth to the censoring date. The factors associated with mortality were evaluated using the Cox proportional regression hazards model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Data from 780 individuals aged between 3 and 67 years were analysed. At the censoring date, 176 (22.6%) had died, and the mean survival was 52.8 years (95% confidence interval: 51.1–54.5). Mortality was significantly associated with a progressive aetiology, recurrent pulmonary infections, drug-resistant epilepsy and a higher number of medical devices.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study shows for the first time the survival and impact of factors associated with mortality in people with polyhandicap/PIMD in France.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13138","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140866458","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":"Association of behavioural and social–communicative profiles in children with 16p11.2 copy number variants: a multi-site study","authors":"J. Verbesselt,&nbsp;L. K. Walsh,&nbsp;M. W. Mitchel,&nbsp;C. M. Taylor,&nbsp;B. M. Finucane,&nbsp;J. Breckpot,&nbsp;I. Zink,&nbsp;A. Swillen","doi":"10.1111/jir.13141","DOIUrl":"10.1111/jir.13141","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Despite the established knowledge that recurrent copy number variants (CNVs) at the 16p11.2 locus BP4–BP5 confer risk for behavioural and language difficulties, limited research has been conducted on the association between behavioural and social–communicative profiles. The current study aims to further delineate the prevalence, nature and severity of, and the association between, behavioural and social–communicative features of school-aged children with 16p11.2 deletion syndrome (16p11.2DS) and 16p11.2 duplication (16p11.2Dup).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 68 individuals (<i>n</i> = 47 16p11.2DS and <i>n</i> = 21 16p11.2Dup) aged 6–17 years participated. Standardised intelligence tests were administered, and behavioural and social–communicative skills were assessed by standardised questionnaires. Scores of both groups were compared with population norms and across CNVs. The influence of confounding factors was investigated, and correlation analyses were performed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared with the normative sample, children with 16p11.2DS showed high rates of social responsiveness (67%) and communicative problems (69%), while approximately half (52%) of the patients displayed behavioural problems. Children with 16p11.2Dup demonstrated even higher rates of social–communicative problems (80–90%) with statistically significantly more externalising and overall behavioural challenges (89%). In both CNV groups, there was a strong positive correlation between behavioural and social–communicative skills.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>School-aged children with 16p11.2 CNVs show high rates of behavioural, social responsiveness and communicative problems compared with the normative sample. These findings point to the high prevalence of autistic traits and diagnoses in these CNV populations. Moreover, there is a high comorbidity between behavioural and social–communicative problems. Patients with difficulties in both domains are vulnerable and need closer clinical follow-up and care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140800798","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}