Research in Developmental Disabilities最新文献

{"title":"Clinical and functional characteristics of children and young adults with cerebral palsy and co-occurring attention-deficit/hyperactivity disorder","authors":"Myriam Casseus ,&nbsp;JenFu Cheng ,&nbsp;Nancy E. Reichman","doi":"10.1016/j.ridd.2024.104787","DOIUrl":"10.1016/j.ridd.2024.104787","url":null,"abstract":"<div><h3>Background</h3><p>There is emerging research that show children and young adults (CYAs) with cerebral palsy (CP) are at higher risk for attention-deficit/hyperactivity disorder (ADHD). However, little is known about the clinical and functional characteristics of CYAs with these co-occurring disorders.</p></div><div><h3>Aim</h3><p>To estimate associations between a diagnosis of ADHD among CYAs with CP and clinical and functional characteristics.</p></div><div><h3>Methods</h3><p>This retrospective, cross-sectional study used data from the electronic health records of CYAs (aged 4–26 years) with CP (n = 1145). We used bivariate and multivariable analyses to estimate associations between an ADHD diagnosis, CP type, Gross Motor Function Classification System (GMFCS) level, speech or language disorder, and intellectual disability.</p></div><div><h3>Results</h3><p>18.1 % of CYAs with CP had a diagnosis of ADHD. CYAs with spastic-bilateral CP had lower odds of ADHD (adjusted odds ratio [AOR] = 0.58; 95 % confidence interval [CI], 0.35–0.96). Odds of having ADHD were significantly lower for those with GMFCS levels III-V (AOR = 0.10; 95 % CI, 0.06–0.15).</p></div><div><h3>Conclusions</h3><p>Our study found that a diagnosis of ADHD among CYAs with CP was associated with greater clinical and functional impairments compared to counterparts without ADHD. Findings highlight the need to screen for both conditions because of the high comorbidity rates in this population.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460673","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":"Co-designing complex therapy interventions with parents as partners in the care of children with cerebral palsy: An Experience-based Co-design study in England","authors":"Jill Massey ,&nbsp;Vicki Tsianakas ,&nbsp;Anne Gordon ,&nbsp;Natalie Sadler ,&nbsp;Glenn Robert","doi":"10.1016/j.ridd.2024.104793","DOIUrl":"10.1016/j.ridd.2024.104793","url":null,"abstract":"<div><h3>Background</h3><p>Parents of children with hemiplegic cerebral palsy are increasingly involved in therapy intervention delivery. Enhancing the ways that parents are supported in delivery is key to optimising outcomes. This study aimed to refine an existing programme in England to better support parents partnering in their child’s intervention delivery.</p></div><div><h3>Methods and procedures</h3><p>Experience-based Co-design (EBCD) fostered collaboration between parents and therapists to identify shared improvement priorities and develop solutions. The study included eighteen interviews and sixteen co-design meetings involving twenty parents and eight therapists in total. Intervention development followed the MRC Framework for developing and evaluating complex interventions.</p></div><div><h3>Outcomes and results</h3><p>Themes from parent and therapist interviews informed priority setting for the co-design work. Three key shared priorities emerged a) accessing rehabilitation; b) fostering partnership and c) parent learning. Aligned with these priorities, three mixed parent and therapist co-design teams produced a) a parent booklet; an education outline for healthcare professionals; b) partnership principles; adaptations to intervention logbooks c) an online parent education session.</p></div><div><h3>Conclusions and implications</h3><p>Engaging parents and therapists in a structured co-design process using EBCD yielded innovative interventions supporting parents in delivering therapy for children with hemiplegia. This collaborative approach is anticipated to enhance programme implementation and effectiveness.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0891422224001252/pdfft?md5=2f9ef03784b0bf29d95bd81b3fb1a891&pid=1-s2.0-S0891422224001252-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460674","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":"Arithmetic fluency and number processing skills in identifying students with mathematical learning disabilities","authors":"H. Hellstrand ,&nbsp;S. Holopainen ,&nbsp;J. Korhonen ,&nbsp;P. Räsänen ,&nbsp;A. Hakkarainen ,&nbsp;M.-J. Laakso ,&nbsp;A. Laine ,&nbsp;P. Aunio","doi":"10.1016/j.ridd.2024.104795","DOIUrl":"10.1016/j.ridd.2024.104795","url":null,"abstract":"<div><h3>Background</h3><p>Students with mathematical learning disabilities (MLD) struggle with number processing skills (e.g., enumeration and number comparison) and arithmetic fluency. Traditionally, MLD is identified based on arithmetic fluency. However, number processing skills are suggested to differentiate low achievement (LA) from MLD.</p></div><div><h3>Aims</h3><p>This study investigated the accuracy of number processing skills in identifying students with MLD and LA, based on arithmetic fluency, and whether the classification ability of number processing skills varied as a function of grade level.</p></div><div><h3>Methods and procedures</h3><p>The participants were 18,405 students (girls = 9080) from Grades 3–9 (ages 9–15). Students’ basic numerical skills were assessed with an online dyscalculia screener (Functional Numeracy Assessment –Dyscalculia Battery, FUNA-DB), which included number processing and arithmetic fluency as two factors.</p></div><div><h3>Outcomes and results</h3><p>Confirmatory factor analyses supported a two-factor structure of FUNA-DB. The two-factor structure was invariant across language groups, gender, and grade levels. Receiver operating characteristics curve analyses indicated that number processing skills are a fair classifier of MLD and LA status across grade levels. The classification accuracy of number processing skills was better when predicting MLD (cut-off &lt; 5 %) compared to LA (cut-off &lt; 25 %).</p></div><div><h3>Conclusions and implications</h3><p>Results highlight the need to measure both number processing and arithmetic fluency when identifying students with MLD.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0891422224001276/pdfft?md5=b3c64a95bd8ece2ad821a16dd0cff3fa&pid=1-s2.0-S0891422224001276-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460672","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":"Investigating physiological symptoms associated with mental health symptoms in youth with cerebral palsy: An observational study","authors":"D. Testani ,&nbsp;C.A. McMorris ,&nbsp;C.A. Clark ,&nbsp;H. Sanguino ,&nbsp;E.G. Condliffe ,&nbsp;M.E. Noel ,&nbsp;D.C. Kopala Sibley ,&nbsp;L.K. Brunton","doi":"10.1016/j.ridd.2024.104783","DOIUrl":"10.1016/j.ridd.2024.104783","url":null,"abstract":"<div><p>Over 50 % of children and youth with cerebral palsy (CP) experience mental health challenges, with anxiety and depression most common. Youth with CP also experience several physiological symptoms such as fatigue, pain, sedentary lifestyle, and sleep disturbances that impact their daily living; however, little is known about the impact of these symptoms on mental health outcomes in these youth. This study addressed this gap and examined the individual and cumulative impacts of physiological symptoms on anxiety and depression symptoms in youth with CP. Forty youth with CP aged 8 to 18 years, and their caregiver, participated in this cross-sectional observational study. Pain, fatigue, anxiety, and depressive symptoms were measured using caregiver- and self-reported questionnaires and participants wore accelerometers for seven consecutive days, providing non-invasive physical activity and sleep pattern data. Youth with CP experienced substantial physiological symptoms and elevated anxiety and depression symptoms. Linear regression models determined that all physiological factors were predictive of caregiver-reported youth anxiety (<em>R</em>² = 0.23) and youth depressive symptoms (<em>R</em>² = 0.48). Fatigue, pain severity, sleep efficiency, and physical activity outcomes individually and cumulatively contributed to caregiver-reported youth anxiety and depression symptoms. These findings highlight the important role of physiological symptoms as potential risk factors and potential targets for intervention for mental health issues for in youth with CP.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S089142222400115X/pdfft?md5=4b2f25c57a4119251627670c4f6f7de4&pid=1-s2.0-S089142222400115X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460675","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":"Vocabulary and expressive morpho-syntax in individuals with Down syndrome: Links to narration","authors":"Isabel Neitzel","doi":"10.1016/j.ridd.2024.104781","DOIUrl":"https://doi.org/10.1016/j.ridd.2024.104781","url":null,"abstract":"<div><h3>Background</h3><p>Narrative ability is crucial for social participation in everyday and school life but involves different language abilities such as vocabulary and morpho-syntax. This is particularly difficult for individuals who display both language and cognitive impairments. Previous research has identified productive vocabulary as a possible key factor for narrative performance in individuals with Down syndrome. Considering a close connection between lexical and morpho-syntactic performance within language acquisition and the distinct impairments that individuals with Down syndrome display concerning their morpho-syntactic skills, the nature of a relation between vocabulary and narrative skills under the influence of grammatical deficits requires further investigation.</p></div><div><h3>Methods</h3><p>Narrations were obtained from 28 children and adolescents with Down syndrome (aged 10;0–20;1) using a non-verbal picture book. Narrative abilities were rated using the Narrative Scoring Scheme across seven narrative aspects (including macro- and microstructure). Vocabulary analyses and morpho-lexical context analyses including verb and conjunction enumerations, evaluation of verb position and MLU were conducted. Findings from the transcript analysis have been supplemented with data from standardized language measures evaluating expressive lexical and morpho-syntactic development. A multiple regression analysis was conducted to identify significant predictors for narrative outcome in the participants with Down syndrome.</p></div><div><h3>Results</h3><p>Lexical analyses revealed a high heterogeneity in production of subordinating conjunctions as a link between lexical and morpho-syntactic abilities. Comparisons of standardized and narrative data demonstrated differences in subordinate clause production depending on the elicitation setting. A multiple regression analysis identified the number of different verbs in the narrative task as the most significant predictor for narrative performance in individuals with Down syndrome.</p></div><div><h3>Discussion and implications</h3><p>The findings of this study contribute to the knowledge regarding factors that influence narrative performance in individuals with language impairment. A differentiated verb lexicon can be identified as the key ability for reaching advanced narrative skills in participants with Down syndrome. These findings are of clinical relevance for therapeutic and educational support and contribute to an understanding of the relation between strengths in vocabulary and morpho-syntactic weaknesses in individuals with Down syndrome within communicative participation.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0891422224001136/pdfft?md5=2671282b9771396dd998107d9aec8c9d&pid=1-s2.0-S0891422224001136-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141439186","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":"Listening to the voices of adolescents with intellectual disabilities: Exploring perception of post-school transition","authors":"Ghaleb H. Alnahdi ,&nbsp;Arwa Alwadei ,&nbsp;Susanne Schwab","doi":"10.1016/j.ridd.2024.104770","DOIUrl":"https://doi.org/10.1016/j.ridd.2024.104770","url":null,"abstract":"<div><h3>Background</h3><p>Life skills play a key role in the transition of a child with intellectual disabilities into a young adult. According to previous research, students with intellectual disabilities often lack such skills. However, most studies on this topic have been conducted on teachers or parents. Limited studies are available on adolescents with intellectual disabilities. Therefore, this study investigates how adolescents with disabilities perceive their competence in life skills post-school.</p></div><div><h3>Method</h3><p>The sample consisted of 201 adolescents with disabilities (67 % with mild intellectual disabilities and 33 % with other disabilities).</p></div><div><h3>Results</h3><p>The results revealed that adolescents with intellectual disabilities' perception of their life skills in all areas (independent living, personal money management, community involvement and usage, leisure activities, health, and social/interpersonal relationships) was significantly lower compared to adolescents with other disabilities. In four out of the six sub-scales, female respondents reported that their competence level in life skills was lower compared to males. In addition, adolescents with disabilities in daycare centers stated that they could establish better social and personal relationships when compared to adolescents from other schools.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141429338","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":"Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review","authors":"Martina Lanza ,&nbsp;Francesca Incagli ,&nbsp;Chiara Ceccato ,&nbsp;Maria Eleonora Reffo ,&nbsp;Elena Mercuriali ,&nbsp;Francesco Parmeggiani ,&nbsp;Emanuela Pagliano ,&nbsp;Veronica Saletti ,&nbsp;Matilde Leonardi ,&nbsp;Agnese Suppiej ,&nbsp;Hélène Dollfus ,&nbsp;David LeBreton ,&nbsp;Robert P. Finger ,&nbsp;Bart Peter Leroy ,&nbsp;Reda Zemaitiene ,&nbsp;Katarzyna Nowomiejska ,&nbsp;Erika Guastafierro","doi":"10.1016/j.ridd.2024.104772","DOIUrl":"https://doi.org/10.1016/j.ridd.2024.104772","url":null,"abstract":"<div><h3>Background</h3><p>Vision has a key role in children’s neuromotor, cognitive and social development. Children with visual impairment attain developmental milestones at later stages and are at higher risk of developing psychological disorders and social withdrawn.</p></div><div><h3>Aims</h3><p>We performed a scoping review to summarize the mostly used instruments assessing the impact of visual impairment on quality of life, functioning and participation of children and adolescents. In addition, the main findings of the included studies are discussed.</p></div><div><h3>Methods and procedures</h3><p>We searched for papers assessing quality of life, functioning and participation of children and adolescents with visual impairment from 0 to 18 years old conducted between 2000 and 2023. <em>Outcomes and results</em>: In total, 69 studies met the inclusion criteria and were included in the review. Child self-report, caregivers-proxy and self-report questionnaires as well as interviews were used. The results showed that quality of life, functioning and participation are significantly reduced in children and adolescents with visual impairment, and that the impact depends on different factors (e.g., severity of the impairment, age).</p></div><div><h3>Conclusions and Implications</h3><p>Considering the significant impact of visual impairment on quality of life, functioning and participation on this population, it is fundamental to develop integrated and multi-dimensional assessment programs that evaluate the impact of visual impairment on those dimensions considering different contexts of life (e.g., family, school, leisure time).</p></div><div><h3>What this paper adds?</h3><p>The present review aims to give an overview of what is known about the impact of visual impairment on quality of life, functioning and participation of children and adolescents. We assumed a biopsychosocial perspective which, in line with the definition of health by the International Classification of Functioning, Disability and Health (WHO, 2001), considered how body functions and structures, functioning, participation and environmental factors dynamically interact to define the health, or the disease, status of a person at a certain moment of life. We reported the most used instruments for the assessment of quality of life, participation, and functioning, with a specific interest on Patient-Reported Outcome Measures and self-report measures. By reporting the different instruments used, we gave a broad overview about the available tools that can be used in clinical as well as in research field to assess quality of life, functioning and participation in this population. Additionally, the review of the existing literature allowed us to demonstrate that those dimensions are negatively impacted by visual impairment and thus they should be considered in the assessment programs. Specifically, there is the need to provide more integrated assessment programs that investigate the impac","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141313608","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":"Enhancing the quality of life of mothers of children with intellectual disabilities or Autism: The role of disability-specific support","authors":"Ghaleb Alnahdi","doi":"10.1016/j.ridd.2024.104780","DOIUrl":"https://doi.org/10.1016/j.ridd.2024.104780","url":null,"abstract":"<div><h3>Background</h3><p>A holistic approach considering the physical, emotional, and social dimensions of living with a disability is essential for developing effective support systems, policies, and interventions. The quality of life of individuals with disabilities is interrelated with the well-being of their families making family quality of life (FQOL) a crucial aspect of study.</p></div><div><h3>Aims</h3><p>This study explores the effects of support on FQOL among Saudi Arabian families with children diagnosed with intellectual disabilities or autism, from the perspectives of 269 mothers.</p></div><div><h3>Methods and procedures</h3><p>Through a survey, we examined how disability-related support correlates with FQOL, emphasizing the need for personalized support systems. We employed multiple regression analysis to assess the impact of various factors on FQOL, including the type and severity of disability, family income, and marital status.</p><p>Outcomes and Results: The findings revealed that disability-related support is a significant predictor of FQOL, highlighting its critical role in enhancing the well-being of families.</p></div><div><h3>Conclusions and implications</h3><p>This study contributes to the scarce regional literature, and underscores the importance of inclusive social policies tailored to the diverse needs of families with disabilities.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141313196","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":"A follow-up study of peer relationships in autistic and non-autistic youths: Mediating effects from autistic, emotional and behavioral symptoms","authors":"Yen-Chin Wang ,&nbsp;Yueh-Ming Tai ,&nbsp;Yu-Yu Wu ,&nbsp;Yen-Nan Chiu ,&nbsp;Wen-Che Tsai ,&nbsp;Susan Shur-Fen Gau","doi":"10.1016/j.ridd.2024.104768","DOIUrl":"https://doi.org/10.1016/j.ridd.2024.104768","url":null,"abstract":"<div><h3>Background</h3><p>Little is known about how clinical features prospectively influence peer relationships in autistic populations.</p></div><div><h3>Aims</h3><p>This study investigated the clinical symptoms mediating the link between autism spectrum disorder (ASD) diagnosis and peer relationships at follow-up, i.e. the second time evaluation of this study.</p></div><div><h3>Methods</h3><p>The sample consisted of 366 autistic youths and 134 non-autistic comparisons. The autistic traits and emotional/behavioral problems were measured at baseline by Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL). The interactions and problems with peers were assessed by the Social Adjustment Inventory for Children and Adolescents (SAICA) at follow-up.</p></div><div><h3>Results</h3><p>Each subscore of SRS and CBCL showed significant mediation effects. Multiple mediation analyses showed atypical social communication, social awareness problems, and delinquent behaviors mediated the link from ASD to less active peer interactions after controlling for sex, age, and IQ. Moreover, atypical social communication, social-emotional problems, and attention difficulties predicted problems with peers. After considering these mediation effects, the diagnosis of ASD still demonstrated a significantly direct effect on peer relationships at follow-up.</p></div><div><h3>Conclusions and implications</h3><p>Our findings support that social-related autistic features, attention problems, and delinquent behaviors mediated a link between ASD and peer relationships. These mediators are potential measures for improving interactions and decreasing difficulties with peers in the autistic population.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141313607","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":"Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome","authors":"Jorge Mourao ,&nbsp;Aurélie Fabre ,&nbsp;Ingrid Zamouri ,&nbsp;Astrid de Foucaud ,&nbsp;Morgane Baud ,&nbsp;Julie Brunelle ,&nbsp;Arnold Munnich ,&nbsp;Nathalie Boddaert ,&nbsp;David Cohen","doi":"10.1016/j.ridd.2024.104769","DOIUrl":"https://doi.org/10.1016/j.ridd.2024.104769","url":null,"abstract":"<div><p>ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging.</p></div><div><h3>What this paper adds?</h3><p>This report describes a 10-year multidisciplinary follow-up of a child with an ARID1B mutation who received early intensive remediation and whose phenotype changed during development. Clinical improvement paralleled the normalization of myelination impairments. This case supports a dimensional approach for complex neurodevelopmental disorders.</p></div>","PeriodicalId":51351,"journal":{"name":"Research in Developmental Disabilities","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141303109","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}