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.
Methods
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.
Results
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.
Conclusions
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.
{"title":"Behavioural phenotype of SYNGAP1-related intellectual disability","authors":"M. P. Kranak, G. Rooker, 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":"68 9","pages":"1036-1049"},"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}
I. O. Lee, J. Wolstencroft, H. Housby, M. B. M. van den Bree, S. J. R. A. Chawner, J. Hall, IMAGINE ID Consortium, D. H. Skuse
<div> <section> <h3> Background</h3> <p>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.</p> </section> <section> <h3> Methods</h3> <p>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 (<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.</p> </section> <section> <h3> Results</h3> <p>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
{"title":"The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities","authors":"I. O. Lee, J. Wolstencroft, H. Housby, M. B. M. van den Bree, S. J. R. A. Chawner, J. Hall, IMAGINE ID Consortium, D. H. Skuse","doi":"10.1111/jir.13139","DOIUrl":"10.1111/jir.13139","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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 (<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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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":"68 10","pages":"1167-1183"},"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}
S. Marquis, N. E. Marquis, Y. Lunsky, K. M. McGrail, J. Baumbusch
Background
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.
Methods
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.
Results
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.
Discussion
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.
{"title":"A retrospective cohort study of prescription drug use among youth with intellectual/developmental disabilities in British Columbia","authors":"S. Marquis, N. E. Marquis, Y. Lunsky, K. M. McGrail, 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":"68 10","pages":"1156-1166"},"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}
G. Nuebling, O. Wagemann, S. Deb, E. Wlasich, S. V. Loosli, K. Sandkühler, A. Stockbauer, C. Prix, J. Levin
Background
People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS-AD) due to a triplication of the amyloid precursor protein 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.
Methods
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 Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS). ICD-10 and amyloid/tau/neurodegeneration (A/T/N) criteria were applied to detect and categorise cognitive decline.
Results
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 (n = 43) displayed higher DSQIID-G total scores [median (range): 3 (0–21) vs. 19 (0–48), P < 0.001]. A total score of >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 (r = 0.74), and split-half reliability (r = 0.96), internal consistency (Cronbach's α r = 0.96), test–retest reliability (r = 0.88) (n = 25) and interrater reliability (r = 0.81) (n = 31) were excellent.
Conclusions
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.
{"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, O. Wagemann, S. Deb, E. Wlasich, S. V. Loosli, K. Sandkühler, A. Stockbauer, C. Prix, 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> < 0.001]. A total score of >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":"68 10","pages":"1146-1155"},"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}
M. C. R. S. Genovesio, L. S. Monteiro, A. V. da Silva, P. R. M. Rodrigues, A. P. Baumblatt, S. A. Ribas
Background
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.
Methods
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.
Results
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).
Conclusion
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.
{"title":"Feeding practices and dietary intake in Brazilian children with Down syndrome: A cross-sectional study","authors":"M. C. R. S. Genovesio, L. S. Monteiro, A. V. da Silva, P. R. M. Rodrigues, A. P. Baumblatt, 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":"68 9","pages":"1050-1061"},"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}
A. Bacherini, P. Anselmi, S. M. Havercamp, G. Balboni
Background
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.
Methods
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).
Results
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.
Conclusions
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.
{"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, P. Anselmi, S. M. Havercamp, 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":"68 10","pages":"1129-1145"},"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}
K. R. Lemay, C. S. Kogan, T. Rebello, J. W. Keeley, R. Bhargava, S. Buono, S. Cooray, P. Ginige, M. T. Kishore, J. V. S. Kommu, M. Recupero, A. Roy, P. Sharan, G. M. Reed
<div> <section> <h3> Background</h3> <p>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.</p> </section> <section> <h3> Methods</h3> <p>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 (<i>n</i> = 18), Sri Lanka (<i>n</i> = 19) and two sites in India (<i>n</i> = 79)]. A principal component analysis was conducted to evaluate the application of the ICD-11 guidance for combining severity levels.</p> </section> <section> <h3> Results</h3> <p>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.</p> </section> <section> <h3> Conclusions</h3> <p>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
背景：世界卫生组织《国际疾病分类》第 11 版（ICD-11）对精神、行为和神经发育障碍的分类包括神经发育障碍分组中的一整套行为指标（BIs）。在没有或无法对智力功能和适应行为进行标准化测量的情况下，行为指标可用于评估智力发育障碍的严重程度。这项国际性研究考察了智力发育障碍和自闭症谱系障碍（ASD）中智力障碍和适应行为严重程度的标准化测量方法，并将其与标准化测量方法进行了比较。此外，还评估了 ICD-11 的临床实用性及其在国际临床环境中应用的忠实性：共有 116 名儿童和青少年（5-18 岁）被疑似或确诊为智力发育障碍，他们来自四个地方[意大利（n = 18）、斯里兰卡（n = 19）和印度的两个地方（n = 79）]。我们进行了主成分分析，以评估 ICD-11 指南在合并严重程度等级方面的应用：结果：使用生物统计学指标进行的评估显示，被归类为轻度严重程度的患者比例较高，而标准化测量结果显示，被归类为重度严重程度的患者比例较高。此外，BIs 和标准化测量结果均显示，与无 ASD 的患者相比，合并 ASD 的患者往往有更严重的障碍。总体而言，虽然在对同时患有智力发育障碍和 ASD 的个体应用指南时需要更多的时间和考虑，但 BIs 被认为在临床上是有用的。主成分分析显示，一个主成分代表了智力发育障碍的整体严重程度：结论：在国际临床环境中，ICD-11 BIs 可按预期用于神经发育障碍患者的各种表现。使用 BIs 所得出的诊断结果与使用标准化测量方法得出的诊断结果相似。在没有适当的智力和适应行为标准化测量方法或这些方法不可行的情况下，《国际功能、残疾和健康分类》有望提高严重程度评估的可靠性。
{"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, C. S. Kogan, T. Rebello, J. W. Keeley, R. Bhargava, S. Buono, S. Cooray, P. Ginige, M. T. Kishore, J. V. S. Kommu, M. Recupero, A. Roy, P. Sharan, G. M. Reed","doi":"10.1111/jir.13146","DOIUrl":"10.1111/jir.13146","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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 (<i>n</i> = 18), Sri Lanka (<i>n</i> = 19) and two sites in India (<i>n</i> = 79)]. A principal component analysis was conducted to evaluate the application of the ICD-11 guidance for combining severity levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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":"68 10","pages":"1114-1128"},"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}
Cristhiane Olivia Ferreira do Amaral, Kamila Rosamilia Kantovitiz, V. C. de Araújo, T. Marega, L. N. Teixeira, E. F. Martinez
Introduction
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 Streptococcus mutans may be altered because FXS renders the dental approach and oral hygiene more complex.
Objectives
The purpose of this study was to compare the levels of transcripts for VicRK and CovR of S. mutans isolated from FXS patients with the levels of transcripts for VicRK and CovR of standard strain ATCC, using a quantitative polymerase chain reaction (qPCR).
Methods
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).
Results
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.
Conclusion
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.
简介脆性 X 综合征（FXS）是最常见的单基因遗传性疾病，以智力障碍为特征。患者可能存在自闭症、多动和焦虑症等行为特征。由于 FXS 使牙科治疗方法和口腔卫生变得更加复杂，突变链球菌的生物膜发育和致病性可能会发生改变：本研究的目的是使用定量聚合酶链反应（qPCR）比较从FXS患者中分离出的变异链球菌的VicRK和CovR转录本水平与标准菌株ATCC的VicRK和CovR转录本水平：方法：采用国际龋病检测和评估系统（ICDAS）、牙周状况指数（PCI）和牙科有创治疗需求指数（INI）评估龋病经历指数：临床指数结果显示，FXS 患者的龋洞率和探诊出血率很高。将 VicRK 和 CovR 转录水平与参考株进行比较，发现脆性 X 患者的数值明显更高：本研究表明，FXS 患者的临床症状更为严重，生物膜积累和致病力都有所增强。结论：本研究表明，FXS 患者的临床状况更为不利，其生物膜积累和致病力都有所增强，如果再加上行为异常，这些患者就更容易患龋齿。
{"title":"Assessment of dental and periodontal indices and Streptococcus mutans virulence in fragile X syndrome patients","authors":"Cristhiane Olivia Ferreira do Amaral, Kamila Rosamilia Kantovitiz, V. C. de Araújo, T. Marega, L. N. Teixeira, 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":"68 9","pages":"1026-1035"},"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}
I. Hamouda, K. Baumstarck, M.-A. Aim, A. Beltran Anzola, A. Loundou, T. Billette de Villemeur, L. Boyer, the EVAL-PLH group, P. Auquier, M.-C. Rousseau
Background
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.
Methods
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.
Results
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.
Conclusions
This study shows for the first time the survival and impact of factors associated with mortality in people with polyhandicap/PIMD in France.
{"title":"Mortality in French people with polyhandicap/profound intellectual and multiple disabilities","authors":"I. Hamouda, K. Baumstarck, M.-A. Aim, A. Beltran Anzola, A. Loundou, T. Billette de Villemeur, L. Boyer, the EVAL-PLH group, P. Auquier, 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":"68 8","pages":"985-996"},"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}
J. Verbesselt, L. K. Walsh, M. W. Mitchel, C. M. Taylor, B. M. Finucane, J. Breckpot, I. Zink, A. Swillen
Background
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).
Methods
A total of 68 individuals (n = 47 16p11.2DS and n = 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.
Results
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.
Conclusions
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.
{"title":"Association of behavioural and social–communicative profiles in children with 16p11.2 copy number variants: a multi-site study","authors":"J. Verbesselt, L. K. Walsh, M. W. Mitchel, C. M. Taylor, B. M. Finucane, J. Breckpot, I. Zink, 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":"68 8","pages":"969-984"},"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}
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