Journal of Intellectual Disability Research最新文献

{"title":"Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia","authors":"Tommaso Accinni,&nbsp;Marianna Frascarelli,&nbsp;Pierluigi Cordellieri,&nbsp;Georgios D. Kotzalidis,&nbsp;Martina Fanella,&nbsp;Carlo Di Bonaventura,&nbsp;Carolina Putotto,&nbsp;Bruno Marino,&nbsp;Paola Bucci,&nbsp;Luigi Giuliani,&nbsp;Annalisa Maraone,&nbsp;Massimo Pasquini,&nbsp;Fabio Di Fabio,&nbsp;Antonino Buzzanca,&nbsp;the Italian Network for Research on Psychoses","doi":"10.1111/jir.13200","DOIUrl":"10.1111/jir.13200","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders. Neurocognitive deficits predict real-life functioning of schizophrenic patients. We investigated real-life functioning in 22q11.2DS, aiming at defining how neurocognitive profile and psychopathological variables impact on psychotic patients' social functioning.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We recruited 63 patients with schizophrenia (SCZ, <i>N</i> = 63), 44 with 22q11.2DS (DEL, <i>N</i> = 44) and 19 with 22q11.2DS and psychosis (DEL–SCZ, <i>N</i> = 19), all matched for age, sex and neurocognitive profile; we administered the Positive and Negative Syndrome Scale (PANSS), the Brief Negative Symptom Scale (BNSS), the Specific Levels of Functioning (SLoF) scale and the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB). We implemented descriptive analyses, MANCOVA and linear regression statistics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The DEL–SCZ and the SCZ groups showed similar levels in <i>Interpersonal Relationships</i> (<i>p</i> = 0.093) and <i>Social Acceptability</i> subscales (<i>p</i> = 0.283). The DEL group scored higher on the <i>Interpersonal Relationships</i> subscale compared with the SCZ group (<i>p</i> = 0.001). The groups scored similarly on the other SLoF subscales. Both BNSS total score (beta = −0.343; <i>p</i> = 0.004) and BNSS asociality (beta = −0.487; <i>p</i> = 0.038) significantly predicted the <i>Interpersonal Relationships</i> variable in the groups with psychosis (SCZ and DEL–SCZ).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and Conclusions</h3>\u0000 \u0000 <p>Individuals with 22q11.2DS display a similar real-life functioning to patients with chronic schizophrenia. <i>Social functioning</i> impairments are typical of psychosis regardless of the genetic condition and highly predicted by negative symptoms like asociality. The 22q11.2DS represents a reliable biological model to study vulnerability to psychosis and its consequences on patients' real-life and social functioning.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 3","pages":"177-192"},"PeriodicalIF":2.1,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13200","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755122","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 Between Intellectual Disability and Hair Cortisol Concentration in Adolescents in a Brazilian Population-Based Birth Cohort","authors":"Karen Y. Sánchez-Luquez,&nbsp;Simone de Menezes Karam,&nbsp;Aluisio J. D. Barros,&nbsp;Andrea Gonzalez,&nbsp;Joseph Murray,&nbsp;Isabel O. de Oliveira,&nbsp;Alicia Matijasevich,&nbsp;Iná S. Santos,&nbsp;Luciana Tovo-Rodrigues","doi":"10.1111/jir.13204","DOIUrl":"10.1111/jir.13204","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Children with intellectual disability (ID) usually exhibit neuroendocrine functioning impairment, such as alterations in the hypothalamic–pituitary–adrenal (HPA) neuroendocrine axis, which can result in glucocorticoid cortisol release alterations. Indeed, many studies showed a positive association between ID and cortisol concentration. However, evidence is lacking on the relationship between child neurodevelopment and cortisol levels during adolescence in population-based studies. We aimed to test the association between ID and hair cortisol concentration (HCC) during adolescence in a prospective population-based cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 1770 individuals in the 2004 Pelotas Birth Cohort were used. ID was diagnosed at age 6 through clinical examination. Hair cortisol was measured at age 15. Association was assessed using linear regression models adjusted for sex, socio-economic factors, hair-related variables and corticosteroid use.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Higher HCC were observed in individuals with ID (<i>β</i>: 1.120; 95% CI: 1.012, 1.241) in the analysis adjusted for sex, hair-related variables and corticosteroid use. Compared to the other aetiological groups, this was more evident in idiopathic ID. But this did not remain significant when demographics/socio-economic variables were controlled for.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Children with ID, particularly those with idiopathic ID, might exhibit dysfunction in the HPA axis or experience heightened stress levels during adolescence.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 3","pages":"214-223"},"PeriodicalIF":2.1,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729671","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":"Adults With Intellectual Disabilities and Incontinence: Assessment and Toileting Issues","authors":"Janet Finlayson,&nbsp;Dawn A. Skelton,&nbsp;Paul Ord,&nbsp;Fiona Roche,&nbsp;Audrey Marshall,&nbsp;John Butcher,&nbsp;Nick Gore","doi":"10.1111/jir.13202","DOIUrl":"10.1111/jir.13202","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Urinary and bowel incontinence are more common in adults with intellectual disability (ID), compared to the general population. Little is known about their incontinence experiences and toileting issues. The aim was to learn about their experiences and toileting issues.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Incontinence and toileting issues assessment was conducted with a community-based sample of 22 adults with ID and urinary incontinence, with or without bowel incontinence. Assessment included the <i>IPSS</i>, <i>ICIQ-UI</i>, and <i>POTI</i> checklists; bladder scans; and urine sample screening for presence of a urinary tract infection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The majority (19 adults, 86%) developed urinary incontinence during adulthood. Seven adults (32%) also experienced bowel incontinence, and constipation was the most commonly reported health condition (13 adults, 59%), other than urinary incontinence. Fifty per cent (11 adults) had been treated for a urinary tract infection within the previous 12 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>There is an urgent need to develop accessible and reliable incontinence assessment materials with and for adults with ID and their supporters. These assessments should pay close attention to health conditions that can cause incontinence in this group and factors associated with incontinence which are more commonly experienced by adults with ID. These factors are potentially modifiable.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 2","pages":"165-175"},"PeriodicalIF":2.1,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709680","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 needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review","authors":"K. van Beurden,&nbsp;F. R. Vereijken,&nbsp;N. Frielink,&nbsp;P. J. C. M. Embregts","doi":"10.1111/jir.13199","DOIUrl":"10.1111/jir.13199","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals. Family members of people with severe and profound intellectual disabilities often encounter many professionals due to medical needs and the severity of their disability. Therefore, providing a comprehensive overview of existing literature on the needs and experiences of family members of relatives with severe or profound intellectual disabilities when collaborating with healthcare professionals is needed to provide insight into how to stimulate and support collaboration.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Seven databases were systematically searched and a thematic analysis was conducted on 23 studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Five overarching themes were identified: (1) need for a balanced view of their relative; (2) need for recognition and compassion; (3) healthcare professionals facilitating close and active involvement; (4) desired qualities of healthcare professionals and (5) conditions for successful interaction between family members and healthcare professionals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The results indicated distinct needs that family members had for themselves and their relatives, as well as desired qualities (e.g. trustworthiness) and supporting factors (e.g. information). Furthermore, the review highlighted persisting needs, such as the need for information and empathy, as well as emerging needs, such as the desire to be recognised as experts and to develop personal bonds with healthcare professionals. These insights can inform future research by identifying areas that require deeper exploration.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"1-29"},"PeriodicalIF":2.1,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681880","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":"Eating and feeding disorders in adults with intellectual developmental disorder with and without autism spectrum disorder","authors":"M. O. Bertelli,&nbsp;F. Paletti,&nbsp;M. Piva Merli,&nbsp;A. Hassiotis,&nbsp;A. Bianco,&nbsp;S. Lassi","doi":"10.1111/jir.13195","DOIUrl":"10.1111/jir.13195","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The present observational cross-sectional study aimed at investigating the prevalence of feeding and eating disorders (FEEDs) in adults with intellectual disability (ID)/intellectual developmental disorder (IDD) with or without autism spectrum disorder (ASD) and specific problem behaviours (PBs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two hundred six adults with ID/IDD consecutively attending residential and rehabilitative facilities, 59.2% of which had co-occurring ASD, were assessed for presence of FEEDs by a structured interview specifically developed for the study and Diagnostic Manual – Intellectual Disability criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The 4.3% of the sample fully met the diagnostic criteria for anorexia nervosa, 6.7% for bulimia nervosa (BN) and 22.8% for binge eating disorder (BED). Furthermore, at least one observable symptom of these disorders was found in higher percentages of the sample. A higher prevalence of FEEDs was found in ID/IDD plus ASD than in ID/IDD alone. PBs were also significantly higher in participants with co-occurring ASD and had a positive correlation with the number of FEED symptoms, especially for BN and BED.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The study enriches previous literature and considers novel aspects such as the behavioural/observable presentation of symptoms as well as the association with ASD and PBs. These issues deserve a specific consideration within standard psychiatric assessment and future research, especially in persons with major communication and/or cognitive difficulties.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 2","pages":"153-164"},"PeriodicalIF":2.1,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590858","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":"High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability","authors":"B. K. Bulduk,&nbsp;J. Tortajada,&nbsp;L. Torres-Egurrola,&nbsp;A. Valiente-Pallejà,&nbsp;R. Martínez-Leal,&nbsp;E. Vilella,&nbsp;H. Torrell,&nbsp;G. Muntané,&nbsp;L. Martorell","doi":"10.1111/jir.13197","DOIUrl":"10.1111/jir.13197","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals with both ID and ASD. The aim of this study was to investigate the prevalence of large-scale mtDNA rearrangements in ID and ID with comorbid ASD (ID-ASD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We used mtDNA-targeted next-generation sequencing and the MitoSAlt high-throughput computational pipeline in peripheral blood samples from 76 patients with ID (mean age 52.5 years, 37% female), 59 patients with ID-ASD (mean age 41.3 years, 46% female) and 32 healthy controls (mean age 42.4 years, 47% female) from Catalonia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study revealed a high frequency of mtDNA rearrangements in patients with ID, with 10/76 (13.2%) affected individuals. However, the prevalence was significantly lower in patients with ID-ASD 1/59 (1.7%) and in HC 1/32 (3.1%). Among the mtDNA rearrangements, six were identified as deletions (median size 6937 bp and median heteroplasmy level 2.3%) and six as duplications (median size 10 455 bp and median heteroplasmy level 1.9%). One of the duplications, <i>MT-ATP6</i> m.8765-8793dup (29 bp), was present in four individuals with ID with a median heteroplasmy level of 3.9%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our results show that mtDNA rearrangements are frequent in patients with ID, but not in those with ID-ASD, when compared to HC. Additionally, MitoSAlt has demonstrated high sensitivity and accuracy in detecting mtDNA rearrangements, even at very low heteroplasmy levels in blood samples. While the high frequency of mtDNA rearrangements in ID is noteworthy, the role of these rearrangements is currently unclear and needs to be confirmed with further data, particularly in post-mitotic tissues and through age-matched control studies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 2","pages":"137-152"},"PeriodicalIF":2.1,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590864","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":"Development and evaluation of the Trauma Screener-Intellectual Disability: a post-traumatic stress disorder screening tool for adults with mild intellectual disability or borderline intellectual functioning","authors":"A. Versluis,&nbsp;C. Schuengel,&nbsp;L. Mevissen,&nbsp;A. de Jongh,&nbsp;R. Didden","doi":"10.1111/jir.13198","DOIUrl":"10.1111/jir.13198","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study aimed to evaluate the validity and reliability of the adult self-report and proxy version of the Trauma Screener-Intellectual Disability (TS-ID) in adults with mild intellectual disability or borderline intellectual functioning (MID-BIF). An optimal cut-off value was determined for the ratio of specificity to sensitivity for predicting the diagnosis of post-traumatic stress disorder (PTSD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The TS-ID was adapted from a Dutch Child and Adolescent Trauma Screener, for use with adults with MID-BIF. Outcomes based on the TS-ID were compared with the presence of PTSD, as classified using the Diagnostic Interview Trauma and Stressors–Intellectual Disability (Mevissen <i>et al</i>. 2018). The TS-ID adult version was administered to 97 participants with MID-BIF who lived in supported housing, whereas the TS-ID proxy version was administered to 92 family members or professional caregivers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The TS-ID adult version showed high internal consistency (Cronbach's α = .94) and excellent validity (AUC = .94) for distinguishing PTSD in adults with MID-BIF. Optimal specificity and sensitivity was found at a cut-off score of 18. Although the TS-ID proxy version demonstrated excellent internal consistency (Cronbach's <i>α =</i> .93), it showed no validity in statistically distinguishing PTSD in adults with MID-BIF.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The TS-ID showed favourable psychometric qualities as a screening instrument of PTSD in the case for people with MID-BIF.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 2","pages":"127-136"},"PeriodicalIF":2.1,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576406","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 comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome","authors":"I. Selten,&nbsp;J. Blok,&nbsp;T. Boerma,&nbsp;A. A. A. M. J. Djelantik,&nbsp;M. Houben,&nbsp;F. Wijnen,&nbsp;J. Zinkstok,&nbsp;J. A. S. Vorstman,&nbsp;A. M. Fiksinski","doi":"10.1111/jir.13196","DOIUrl":"10.1111/jir.13196","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The 22q11.2 deletion syndrome (22q11DS) is associated with a variety of neuropsychiatric outcomes that vary across deletion carriers. We adopted a dimensional approach to provide a comprehensive overview of neuropsychiatric symptom expression in adolescents with 22q11DS and further our understanding of the observed phenotypical heterogeneity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants were 208 adolescents with 22q11DS between 10 and 19 years old. Semi-structured clinical interviews and IQ tests were used to quantify symptom expression on multiple symptom dimensions, some reflecting DSM-IV diagnostic domains. We investigated symptom expression in those with and without a formal DSM-IV classification and examined between and within symptom dimensions. We used correlation analyses to explore associations between different symptom dimensions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We demonstrated inter-individual differences in symptom expression, both between and within neuropsychiatric symptom dimensions. On most symptom dimensions, more than 50% of adolescents expressed at least one clinically relevant symptom. In addition, a significant proportion of youth without a formal DSM-IV diagnosis reported clinically relevant symptoms (e.g. &gt;85% of those without an ADHD diagnosis reported ADHD symptoms). The exploratory correlation analysis indicated mostly positive correlations between symptom dimensions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The finding that most adolescents with 22q11DS express neuropsychiatric symptoms, even in the absence of a DSM-IV classification, has substantial ramifications for guiding adequate support. Findings may spur further research into the dimensional structure of neuropsychiatric symptoms in 22q11DS and aid in uncovering mechanisms that contribute to symptom expression. Ultimately, this provides leads to improve clinical care for 22q11DS and to understand phenotypical variation in other high-risk genetic variants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 2","pages":"113-126"},"PeriodicalIF":2.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502156","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":"Inpatient hospitalisations for patients with Prader–Willi syndrome: a 2019–2021 National Inpatient Sample analysis","authors":"J. Luccarelli,&nbsp;T. V. Strong,&nbsp;T. H. McCoy Jr","doi":"10.1111/jir.13194","DOIUrl":"10.1111/jir.13194","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prader–Willi syndrome (PWS) is a genetic disorder characterised by hyperphagia, intellectual disability and increased propensity to a range of medical disorders. To better characterise the clinical presentation of PWS across the lifespan, this study reports on the demographics and clinical diagnosis of individuals with PWS hospitalised in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The National Inpatient Sample, an all-payor administrative claims database of hospitalisations in the United States, was queried for patients with a coded diagnosis of PWS from October 2019 through December 2021. Hospitalisations for patients with PWS were matched to five non-PWS hospitalisations based on age, sex, year and hospital characteristics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 4400 (95% CI: 3,885 to 4,915) PWS hospitalisations, with a median age of 24. Compared to controls, PWS hospitalisations had longer hospital stays (median 5 vs. 3 days) and higher in-hospital mortality (2.2% vs. 1.3%). Infectious (19.0%) and respiratory (16.2%) diagnoses were most common for PWS patients. Codes for overweight or obesity were present in 38.1% of PWS hospitalisations, with Hispanic ethnicity was associated with a higher odds of overweight/obesity in PWS patients (aOR 1.73; 95% CI: 1.11–2.71).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>PWS hospitalisations are characterised by higher healthcare utilisation and complexity compared to matched controls. The high prevalence of obesity and significant rates of infectious and respiratory conditions highlight specific health challenges for PWS patients. Validation of the Q87.11 administrative claims code is an essential step for ongoing health services research in this condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"79-89"},"PeriodicalIF":2.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467581","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":"Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis","authors":"M. Galán-Olleros,&nbsp;E. González-Alguacil,&nbsp;V. Soto-Insuga,&nbsp;M. T. Vara-Arias,&nbsp;N. V. Ortiz-Cabrera,&nbsp;R. M. Egea-Gámez,&nbsp;J. J. García-Peñas,&nbsp;I. Martínez-Caballero,&nbsp;RTT-HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús","doi":"10.1111/jir.13193","DOIUrl":"10.1111/jir.13193","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl-CpG binding protein-2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random-effects meta-analysis was performed to determine the pooled prevalence based on study weight.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3–38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4–73.6%; <i>I</i>² = 99%; <i>P</i> &lt; 0.01], of hip displacement was 29.6% (95% CI 8.9–50.2%; <i>I</i>² = 97%; <i>P</i> &lt; 0.01) and of foot deformities was 53% (95% CI 17.5–89.2%; <i>I</i>² = 98%; <i>P</i> &lt; 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9–79.2%; <i>I</i>² = 99%; <i>P</i> &lt; 0.01)], those with a mean age over 13 years [73% (95% CI 59.1–87%; <i>I</i>² = 100%; <i>P</i> &lt; 0.01)], and studies combining both variables [80.13% (95% CI 70.8–89.4%; <i>I</i>² = 81%; <i>P</i> &lt; 0.01)].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This meta-analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 12","pages":"1331-1343"},"PeriodicalIF":2.1,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13193","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467616","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}