Journal of Applied Research in Intellectual Disabilities最新文献_第8页

Safer Online Lives: Internet Use and Online Experiences of Adults With Intellectual Disabilities—A Survey Study 更安全的网络生活：智障成人的互联网使用和在线体验——一项调查研究

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-30 DOI: 10.1111/jar.70061

Paraskevi Triantafyllopoulou, Jessie Newsome, Winnie Tsang, Michelle McCarthy, Karen Jones

{"title":"Safer Online Lives: Internet Use and Online Experiences of Adults With Intellectual Disabilities—A Survey Study","authors":"Paraskevi Triantafyllopoulou, Jessie Newsome, Winnie Tsang, Michelle McCarthy, Karen Jones","doi":"10.1111/jar.70061","DOIUrl":"https://doi.org/10.1111/jar.70061","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The internet and social media are increasingly accessible to people with intellectual disabilities, offering significant benefits but also posing unique challenges and risks. This study aimed to explore the online experiences of adults with intellectual disabilities in England.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An accessible survey was conducted from July 2021 to July 2022 collecting data on online risks, perceived benefits and barriers to internet use.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Amongst 115 participants, 74% reported using the internet daily, and 48% used social media every day. Participants who reported more frequent engagement in cyber-aggression were significantly more likely to also report experiences of cyber-victimisation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings highlight the evolving use of the internet for adults with intellectual disabilities and the factors that influence their online experiences. They emphasise the need for strategies to enhance safe internet use and inform social care practices aimed at fostering positive online experiences whilst mitigating risks.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jar.70061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143889154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Six-Month Nordic Walking Program for Adults With Intellectual and Developmental Disabilities: Feasibility and Effect 6个月的成人智力和发育障碍北欧步行项目：可行性和效果

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-30 DOI: 10.1111/jar.70063

Ayelet Dunsky, Sharon Barak

{"title":"A Six-Month Nordic Walking Program for Adults With Intellectual and Developmental Disabilities: Feasibility and Effect","authors":"Ayelet Dunsky, Sharon Barak","doi":"10.1111/jar.70063","DOIUrl":"https://doi.org/10.1111/jar.70063","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Individuals with intellectual and developmental disabilities tend to engage in low levels of physical activity, which puts them at risk for chronic health conditions, poor balance and gait difficulties. Nordic walking could improve gait, balance, strength, endurance and respiratory function while enjoying nature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Thirty-four adults with intellectual and developmental disabilities were assessed for physical performance and emotional status before and after participating in a six-month intervention comprised of weekly Nordic walking sessions. Five staff members were also interviewed about the programme.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Nordic walking was found to be feasible, with an average monthly attendance of 60.75%. Following the intervention, significant improvements were seen in lower-extremity strength, flexibility and waist-to-hip ratios.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Nordic walking motivates participants to engage in physical activity, strengthens muscles, and increases flexibility. Thus, people who work with adults with intellectual and developmental disabilities may consider including Nordic walking in their health enhancement and maintenance programmes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143889155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

More Than ‘Keeping an Eye’: Ensuring Children With Intellectual Disabilities Are Safe and Feel Safe in Hospital 不仅仅是“照看”：确保智障儿童在医院的安全和安全感

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-30 DOI: 10.1111/jar.70055

Kate Oulton, Faith Gibson, Charlotte Kenten, Jessica Russell, Jo Wray

{"title":"More Than ‘Keeping an Eye’: Ensuring Children With Intellectual Disabilities Are Safe and Feel Safe in Hospital","authors":"Kate Oulton, Faith Gibson, Charlotte Kenten, Jessica Russell, Jo Wray","doi":"10.1111/jar.70055","DOIUrl":"https://doi.org/10.1111/jar.70055","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is a lack of evidence to inform the provision of safe hospital care and treatment to children with intellectual disabilities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Interviews were conducted with 52 parents/carers of 42 children with intellectual disabilities and 98 hospital staff about the care of children with intellectual disabilities during in-patient stays in English hospitals. Data were analysed using reflexive thematic analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Findings</h3>\u0000 \u0000 <p>Factors potentially impacting on the safety of children with intellectual disabilities in hospital are encompassed under four domains: parental vigilance, child vulnerability, staffing capability and capacity, and the environment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>A new healthcare lens is needed which places equal priority on the non-medical and medical needs of patients, and which recognises the importance of children and their parents both <i>feeling</i> and being safe in hospital. The use of a risk assessment instrument to facilitate this has the potential for multiple improvements at all levels.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Did I Take My Medication Today? Understanding Medication Self-Management for Adults With Intellectual Disabilities Through Participatory Research 我今天吃药了吗？通过参与性研究了解成人智障患者的药物自我管理

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-30 DOI: 10.1111/jar.70059

Natasha A. Spassiani, Anna Higgins, Stephan Tait, Aaron Hume, Sam Abdulla, Ruth Paterson

{"title":"Did I Take My Medication Today? Understanding Medication Self-Management for Adults With Intellectual Disabilities Through Participatory Research","authors":"Natasha A. Spassiani, Anna Higgins, Stephan Tait, Aaron Hume, Sam Abdulla, Ruth Paterson","doi":"10.1111/jar.70059","DOIUrl":"https://doi.org/10.1111/jar.70059","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is little research that has examined what support strategies are effective to help adults with intellectual disabilities take their prescribed medication correctly. The aim of the study was to gain an understanding of the barriers and supports that contribute to adults with intellectual disabilities self-managing their prescribed medicines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Nine adults with intellectual disabilities and two support staff participated in this two-phase study. Phase 1 consisted of focus groups and Phase 2 involved participants taking part in simulated real-world scenarios based on situations discussed during Phase 1 about taking prescription medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Three main themes emerged from the findings: knowledge about prescription medication, barriers to taking prescription medication, and facilitators to taking prescription medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings of the study will help to inform healthcare professionals on how to better support adults with intellectual disabilities to take their prescription medication to ensure better health outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jar.70059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Where Care Converges: Uncovering Shared Experiences of Parents and Service Providers for Adults With Intellectual Disabilities in Times of Austerity 关怀汇聚的地方：揭示经济紧缩时期智力残疾成人的父母和服务提供者的共同经历

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-23 DOI: 10.1111/jar.70044

Rachel Abigail Harrison, Jill Bradshaw, Michelle McCarthy

{"title":"Where Care Converges: Uncovering Shared Experiences of Parents and Service Providers for Adults With Intellectual Disabilities in Times of Austerity","authors":"Rachel Abigail Harrison, Jill Bradshaw, Michelle McCarthy","doi":"10.1111/jar.70044","DOIUrl":"https://doi.org/10.1111/jar.70044","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Since the introduction of austerity measures in 2008, funding for care, welfare, services and support systems in the United Kingdom has been reduced. There is little research that explores the experiences of parents of adults with intellectual disabilities and service providers regarding care, relationships and social networks in times of austerity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Semi-structured interviews were undertaken with 10 parents of adults with intellectual disabilities and nine managers and leaders of relevant services. Reflexive thematic analysis was used to identify key themes across their experiences.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Experiences suggested four shared key themes in relation to the effects of austerity: distanced relationships; Care Act assessments being used to make cuts; deteriorating health and wellbeing; and participants feeling forced to become fighters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Whilst previous research has considered the adversarial nature of relationships between parents and service providers, this study suggests they can experience shared difficulties under austerity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jar.70044","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to “Behavioural Interventions to Treat Anxiety in Adults With Autism and Moderate to Severe Intellectual Disabilities: The BEAMS-ID Feasibility Study” 更正“行为干预治疗自闭症及中度至重度智障成人焦虑：beam - id可行性研究”

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-23 DOI: 10.1111/jar.70056

引用次数: 0

Improving Quality of Life of Families Headed by Parents With Intellectual Disabilities and Their Children by Means of Assistive Social Robotics 借助辅助社交机器人技术改善智障父母及其子女的生活质量

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-22 DOI: 10.1111/jar.70054

Suze van Wijngaarden, Marja W. Hodes, Leo Cardinaal, Mark Koning, Alice Schippers

{"title":"Improving Quality of Life of Families Headed by Parents With Intellectual Disabilities and Their Children by Means of Assistive Social Robotics","authors":"Suze van Wijngaarden, Marja W. Hodes, Leo Cardinaal, Mark Koning, Alice Schippers","doi":"10.1111/jar.70054","DOIUrl":"https://doi.org/10.1111/jar.70054","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Families of parents with intellectual disabilities still face discrimination, stigma and inadequate support, placing them in vulnerable positions. Social assistive robotics offers promising support. This study investigates the possible impact of social assistive robotics on family quality of life (FQoL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>An inclusive, iterative and qualitative research design was used, involving a co-researcher with an intellectual disability. Four families, headed by parents with an intellectual disability and children under 12, interacted with a robot at home. Prior to and after the interaction, visually supported semi-structured interviews on FQoL were conducted.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The robot had a positive impact on FQoL, particularly in family relationships, work and leisure, as the robot was integrated in the families' daily routines. Other domains were impacted less.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Social assistive robotics has the potential to enhance FQoL and support vulnerable families, complementing existing systems. Further research and development are needed.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143856952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Barriers and Facilitators to Staff's Implementation of Behaviour Support Plans in Community Settings 员工在社区环境中实施行为支持计划的障碍和促进因素

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-22 DOI: 10.1111/jar.70049

Dearbhaile Mahon, Cayleigh Dunworth, Jennifer McSharry, Jennifer Holloway, Helena Lydon

{"title":"Barriers and Facilitators to Staff's Implementation of Behaviour Support Plans in Community Settings","authors":"Dearbhaile Mahon, Cayleigh Dunworth, Jennifer McSharry, Jennifer Holloway, Helena Lydon","doi":"10.1111/jar.70049","DOIUrl":"https://doi.org/10.1111/jar.70049","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Behaviour supports plans (BSP), if accurately implemented, have been found to increase skills and decrease behaviours that challenge for individuals with intellectual disabilities. However, skills acquired by staff during trainings on BSPs often fail to transfer into effective implementation. The current study aimed to examine barriers and facilitators to BSP implementation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Focus groups were conducted with four staff teams (<i>n</i> = 21) and semi-structured interviews were carried out with each team's respective team leader (<i>n</i> = 4). Thematic analysis, involving inductive and deductive approaches, was used to analyse the data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Environmental context and resources (e.g., compatibility of environment) and social influences (e.g., level of team communication) were the predominant domains impacting on implementation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Findings emphasise the importance of service providers aligning with the core values of positive behaviour support, which acts as a facilitator for effective BSP implementation. These include integral social processes such as collaboration across key stakeholders and person-centred planning.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jar.70049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143861630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Life Satisfaction, Global Health and Mood in Prader–Willi Syndrome: Use of PROMIS and Glasgow Depression Scales Prader-Willi综合征患者的生活满意度、整体健康和情绪：PROMIS和格拉斯哥抑郁量表的使用

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-14 DOI: 10.1111/jar.70053

Lauren Schwartz, Caroline J. Vrana-Diaz, Jessica E. Bohonowych, Lisa Matesevac, Theresa V. Strong

{"title":"Life Satisfaction, Global Health and Mood in Prader–Willi Syndrome: Use of PROMIS and Glasgow Depression Scales","authors":"Lauren Schwartz, Caroline J. Vrana-Diaz, Jessica E. Bohonowych, Lisa Matesevac, Theresa V. Strong","doi":"10.1111/jar.70053","DOIUrl":"https://doi.org/10.1111/jar.70053","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prader–Willi syndrome (PWS) is a rare neurodevelopmental disorder with symptoms that impact health and quality of life (QOL). There is limited data on global health, QOL and the relationship with mood in individuals with PWS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Parents completed three validated assessments, the Glasgow Depression Scale-Carer Supplement (GDS-CS), PROMIS Parent-Proxy Global Health 7 and PROMIS Parent-Proxy Life Satisfaction 8b, for 527 individuals with PWS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Mean GDS-CS score was 8.29 (SD 4.55), and 18% had a score of 13+, reflective of possible depression. Mean PROMIS Global Health and Life Satisfaction scores were 41.46 (SD 8.48) and 43.39 (SD 8.48), respectively, and are lower compared to the general population. Both PROMIS scales worsened with age, and scores on the PROMIS and GDS-CS were associated with parent reports of depression for the person with PWS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These validated instruments may be useful for assessing mood and QOL in PWS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jar.70053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143826967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care 患Rett综合征的中年妇女：来自英伦三岛Rett综合征调查的纵向概况及护理建议

IF 2.1 3区医学

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-07 DOI: 10.1111/jar.70051

Anna Hryniewiecka-Jaworska, Emily Sloper, Hayley Archer, Angus John Clarke

{"title":"Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care","authors":"Anna Hryniewiecka-Jaworska, Emily Sloper, Hayley Archer, Angus John Clarke","doi":"10.1111/jar.70051","DOIUrl":"https://doi.org/10.1111/jar.70051","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Methods</h3>\u0000 \u0000 <p>We report historical information from longitudinal data held in the British Isles Rett Syndrome Survey (BIRSS) concerning women of at least 40 years. This information, including comments on the quality of care, has been provided by families, carers, and clinicians.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Information was available on 30 women with a clinical diagnosis of Rett syndrome (RTT), of whom 24 were < 50 years. Twenty-nine women were diagnosed with classic RTT and one with atypical RTT. Of 18 women tested for <i>MECP2</i> mutations, pathogenic variants were identified in 14. There was little increase in severity over time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The study found that: (1) milder phenotypes were common; (2) depression may be under-recognised; (3) menopause does not seem to occur early; (4) nutrition standards from the general population will often be inapplicable; (5) multiple opportunities exist to prevent functional decline through detailed attention to the quality of the medical and social care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":51403,"journal":{"name":"Journal of Applied Research in Intellectual Disabilities","volume":"38 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jar.70051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143793595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0