Journal of Intellectual Disability Research最新文献

{"title":"A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome.","authors":"I Selten, J Blok, T Boerma, A A A M J Djelantik, M Houben, F Wijnen, J Zinkstok, J A S Vorstman, A M Fiksinski","doi":"10.1111/jir.13196","DOIUrl":"https://doi.org/10.1111/jir.13196","url":null,"abstract":"<p><strong>Background: </strong>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><p><strong>Methods: </strong>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><p><strong>Results: </strong>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. >85% of those without an ADHD diagnosis reported ADHD symptoms). The exploratory correlation analysis indicated mostly positive correlations between symptom dimensions.</p><p><strong>Conclusions: </strong>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>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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}

{"title":"Pay Attention to Hypertension (PAtH): Findings from a cardiovascular health promotion intervention for adults with intellectual disabilities participating in Special Olympics programming","authors":"R. E. Ponce-Alcala,&nbsp;A. Cuerrier,&nbsp;L. Sanzone,&nbsp;T. Delmas,&nbsp;K. Roberge,&nbsp;A. Van Hulst","doi":"10.1111/jir.13189","DOIUrl":"10.1111/jir.13189","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cardiovascular disease (CVD) affects adults globally. People with intellectual disabilities (PWID) may be at higher risk of CVD and associated risk factors (e.g. obesity, hypertension, and diabetes). We developed Pay Attention to Hypertension (PAtH), a cardiovascular health promotion intervention, and tested its impact on changes in blood pressure (BP), lifestyle behaviours and health-related empowerment among PWID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>PAtH was developed with a Special Olympics community organisation that supports PWID in developing self-confidence and social skills through participation in sports. The 6-month intervention consisted of 1-h individualised virtual sessions delivered monthly by nursing students/novice nurses. Sessions covered specific themes, including monitoring BP, adopting healthy lifestyles and managing stress, and were individually tailored to the capacities and needs of participants. A single group pre–post-intervention design was used to assess the intervention's effects among participants who completed the intervention and data collection. Data included baseline and follow-up BP measurements from 7-day logbooks and questionnaires assessing lifestyle behaviours [physical activity (PA), screen time and diet], and health-related empowerment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seventy-four participants were included in the analyses. Between baseline and follow-up, there were no changes in systolic and diastolic BP, PA or leisure screen time. The proportion of participants who reported adding salt when cooking decreased from baseline to follow-up (19.7% vs. 12.7%, <i>P</i> = 0.034), and we found improvements for several items measuring health-related empowerment (<i>P</i> ≤ 0.003).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Improvements in health-related empowerment were found following PAtH. More intensive interventions may be needed to result in changes in lifestyle behaviours and BP. The integration of adapted cardiovascular health promotion initiatives within well-established community organisations such as Special Olympics is a promising avenue to contribute to cardiovascular health promotion among PWID.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"65-78"},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467582","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":"Comparing self-report medication data from a longitudinal study on intellectual disability and national dispensing records","authors":"A. Gorman,&nbsp;M. Odalović,&nbsp;P. McCallion,&nbsp;A. Paul,&nbsp;É. Burke,&nbsp;M. MacLachlan,&nbsp;M. McCarron,&nbsp;M. C. Henman,&nbsp;M. Moran,&nbsp;J. O'Connell,&nbsp;R. Shankar,&nbsp;C. Ryan,&nbsp;M. O'Dwyer","doi":"10.1111/jir.13192","DOIUrl":"10.1111/jir.13192","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Medication data are a valuable resource in epidemiological studies. As the most common data collection method of medication data is self-report, it is important to understand the accuracy of this in comparison with other methods such as dispensing records. The aim of this study was to compare the agreement between two different sources of medication data of older adults with intellectual disability (ID).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Self-report medication data were gathered from the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing and linked to national pharmacy dispensing records. The kappa statistic was used to measure agreement between the two data sources for psychotropic medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The lowest agreement level was ‘moderate’ for the number of anxiolytics reported (kappa 0.56). The highest level of agreement was ‘almost perfect’ for the binary variable of antipsychotics (kappa 0.91). Other agreement results were ‘substantial’ or ‘almost perfect’.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Good agreement was found between the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing medication dataset and national dispensing records. Self-report medication data appear to be a valid method of data collection in psychotropic medication use in adults with ID.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"103-111"},"PeriodicalIF":2.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467580","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 influence of assistance in home-based exercise programmes for individuals with intellectual disabilities","authors":"K. L. Noerr,&nbsp;R. Swinford","doi":"10.1111/jir.13191","DOIUrl":"10.1111/jir.13191","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Regular physical activity (PA) decreases the risk of comorbidities associated with a sedentary lifestyle in individuals with intellectual disabilities (IDs). They also may experience additional barriers that may prevent PA, including access, proper instruction and support. At-home PA programming is a feasible alternative to long-term adherence. This study aimed to determine (1) how an at-home DVD programme affects PA adherence and (2) the extent to which caregiver support influences PA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Thirty-one adolescent or adult-aged participants with mild or moderate ID were randomised into a DVD or control group exercise intervention. Participants were given autonomy to choose what type of PA modality from the intervention they would like to participate in. Caregiver support during the PA was also measured.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The two-way repeated-measures MANOVA demonstrated that the intervention DVD group was statistically significant, with a large effect size in PA minutes (<i>P</i> = 0.014, <i>ηP</i>² = 0.236) and rate of perceived exertion (<i>P</i> = 0.002, <i>ηP</i>² = 0.342) compared with the control group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings demonstrated that using an adapted DVD increased PA minutes and the rate of perceived exertion without high levels of caregiver support.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"55-64"},"PeriodicalIF":2.1,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381016","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 risk of type 2-diabetes among persons with intellectual disability: a Danish population-based matched cohort study","authors":"A. Thorsted,&nbsp;S. F. Lehn,&nbsp;A. Kofoed-Enevoldsen,&nbsp;A. Andersen,&nbsp;A. Heltberg,&nbsp;S. I. Michelsen,&nbsp;L. C. Thygesen","doi":"10.1111/jir.13190","DOIUrl":"10.1111/jir.13190","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Previous research shows that obesity, unhealthy eating, physical inactivity and a high use of psychotropic medications are prevalent among persons with intellectual disability (ID), which might increase the risk of type 2-diabetes (T2DM). This study aims to investigate: (1) whether persons with ID have an increased risk of T2DM compared with an age- and sex-matched reference group and (2) differences in T2DM risk by sex, birth year, ID inclusion diagnosis and ID severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study is a nationwide cohort study, including 65 293 persons with ID and 659 723 persons in an age- and sex-matched reference group without ID. Incidence rates for T2DM were calculated and Cox proportional regression models were used to estimate adjusted hazard ratios (aHRs) for the association between ID and T2DM. Follow-up began from the 1 January 1977 (when T2DM data were available), participants' 22nd birthday or from the date the participants immigrated to Denmark, whichever came last and continued until the onset of T2DM, emigration, death or end of follow-up (31 December 2021), whichever came first.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Persons with ID had more than double risk of T2DM compared with the reference group [aHR = 2.15, 95% confidence interval (CI): 2.09–2.20]. The strongest associations were found among women, persons born between 1980 and 1999 and among persons with mild ID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Persons with ID have an increased risk of T2DM. This knowledge is important in relation to the development and prioritising of preventive initiatives among persons with ID in the healthcare sector. Future research should focus on the underlying mechanisms that can explain the possible association between ID and T2DM as it allows a more targeted prevention strategy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"90-102"},"PeriodicalIF":2.1,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365522","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":"Sleep problems of children with Down syndrome in northern China","authors":"Y. Zhang,&nbsp;L. M. Li,&nbsp;J. N. Ding,&nbsp;Y. Liu,&nbsp;Y. Q. Yuan","doi":"10.1111/jir.13187","DOIUrl":"10.1111/jir.13187","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Limited research has looked at the present-day sleep problems among Chinese children with Down syndrome (DS). This study aimed to investigate the situation of the sleep problems of school-aged children with DS in northern China.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Parents of children with DS were a convenience sample recruited through the special education schools of Shandong Province in China. The Chinese version of the Children's Sleep Habits Questionnaire was applied to assess the sleep problems of children with DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Parents of 334 children with DS reported the average sleep duration was 9.7 (9.3–10.2) hours per night, and 62.0% of children with DS were reported sleeping less than 10 h per night. Additionally, the total prevalence rate of sleep problems among children with DS was 69.8%. Sleep-disordered breathing (59.2%), sleep duration (33.8%) and bedtime resistance (32.0%) were the three most commonly reported sleeping problems. Younger children with DS (age 6–8 years) had severe problems with bedtime resistance, sleep anxiety and parasomnias than older children with DS (age 9–12 years) (all <i>P</i> &lt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Sleep problems are prominent among children with DS in northern China and are worthy of attention. Caregivers and health professionals should raise awareness of sleep problems in this group of children and implement targeted interventions to improve their sleep quality as early as possible.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 12","pages":"1422-1429"},"PeriodicalIF":2.1,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348303","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":"‘It's especially good just to know that you're not the only one’: a qualitative study exploring experiences with online peer support programmes for the Fragile X community","authors":"T. Haber,&nbsp;L. Davies,&nbsp;R. S. Hinman,&nbsp;K. L. Bennell,&nbsp;W. Bruce,&nbsp;L. Jewell,&nbsp;A. Borda,&nbsp;B. J. Lawford","doi":"10.1111/jir.13188","DOIUrl":"10.1111/jir.13188","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Accessing peer support can be difficult for people with, or carers of people with, inherited intellectual disabilities. One way to improve access is to provide services online, yet few studies have explored people's experiences with online peer support programmes. We aimed to explore experiences with such programmes for communities affected by fragile X-associated conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Qualitative study involving individual semi-structured interviews with 16 people with, or carers of people with, a fragile X-associated condition (<i>n</i> = 4 adult premutation carriers; <i>n</i> = 12 parents/carers of children/adults), who participated in at least one of three online peer support programmes: educational webinars, Facebook discussion group and small peer group sessions via Zoom. Reflexive thematic analysis was used to develop themes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Three overarching themes relating to experiences were as follows: (1) uncertainty and value of shared experiences, (2) support navigating healthcare, (3) advantages being online, but still a place for in-person events. Educational webinars were perceived to be a valuable source of information about fragile X-associated conditions although people had variable information needs. Facebook discussion groups enabled people to connect with others, although participants expressed some competing preferences for how the groups were organised. Zoom peer group sessions were perceived to help participants feel supported by others, but that consistency in organisation was important.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Online peer support programmes were perceived to be beneficial, bridging informational gaps and facilitating social connection. However, participants believed there was still a place for in-person events, some felt educational webinars did not always meet their needs and some had privacy concerns.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"30-43"},"PeriodicalIF":2.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348302","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":"Comparative study of emotional facial expression recognition among Prader–Willi syndrome subtypes","authors":"A. Perosanz,&nbsp;J. F. López-Paz,&nbsp;I. Amayra,&nbsp;M. García,&nbsp;O. Martínez","doi":"10.1111/jir.13186","DOIUrl":"10.1111/jir.13186","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prader–Willi syndrome (PWS) is a congenital disease caused by a rare and generally non-inherited genetic disorder. The inability to recognise facial expressions of emotion is an apparent social cognition deficit in people diagnosed with PWS. The main objective of the present study is to compare the ability to recognise emotional facial expression, in both non-contextualised and contextualised scenarios, among the main subtypes of PWS and a control group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The sample consisted of 46 children divided into three groups: deletion (<i>n</i> = 10), maternal uniparental disomy (mUPD) (<i>n</i> = 13) and control (<i>n</i> = 23). The protocol included the Facially Expressed Emotion Labeling and the Deusto-e-Motion 1.0.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The control group recognised facial emotions more accurately and quickly in both non-contextualised and contextualised scenarios than children with PWS, regardless of genetic subtype. Despite no differences being detected between PWS subtypes when non-contextualised scenarios were analysed, in contextualised situations, a longer reaction time was observed in children with the mUPD subtype.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first study to assess the ability to recognise emotional facial expressions in contextualised situations among PWS subtypes and a control group. The findings suggest that some of the social cognitive deficits evidenced in children with mUPD PWS may be similar to those in autism spectrum disorder.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 1","pages":"44-54"},"PeriodicalIF":2.1,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307928","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}