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Brief Report: Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities
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Taeyeop Lee; Hyeji Lee; Soowhee Kim; Kee Jeong Park; Joon-Yong An; Hyo-Won Kim – Journal of Autism and Developmental Disorders, 2024
The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified.…
Descriptors: Developmental Disabilities, Children, Genetics, Risk
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
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Sadhwani, Anjali; Wheeler, Anne; Gwaltney, Angela; Peters, Sarika U.; Barbieri-Welge, Rene L.; Horowitz, Lucia T.; Noll, Lisa M.; Hundley, Rachel J.; Bird, Lynne M.; Tan, Wen-Hann – Journal of Autism and Developmental Disorders, 2023
We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age…
Descriptors: Child Development, Developmental Disabilities, Psychomotor Skills, Infants
Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders
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Li, Kuokuo; Fang, Zhenghuan; Zhao, Guihu; Li, Bin; Chen, Chao; Xia, Lu; Wang, Lin; Luo, Tengfei; Wang, Xiaomeng; Wang, Zheng; Zhang, Yi; Jiang, Yi; Pan, Qian; Hu, Zhengmao; Guo, Hui; Tang, Beisha; Liu, Chunyu; Sun, Zhongsheng; Xia, Kun; Li, Jinchen – Journal of Autism and Developmental Disorders, 2022
The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…
Descriptors: Mental Disorders, Genetics, Patients, Autism
Composite Sleep Problems Observed across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD
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Gandhi, Anusha; Zhou, Dihong; Alaimo, Joseph; Chon, Edwin; Fountain, Michael D.; Elsea, Sarah H. – Journal of Autism and Developmental Disorders, 2021
Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental…
Descriptors: Sleep, Behavior Problems, Genetic Disorders, Neurological Impairments
Peer Relationships in Children with Williams Syndrome: Parent and Teacher Insights
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Gillooly, Amanda E.; Riby, Deborah M.; Durkin, Kevin; Rhodes, Sinéad M. – Journal of Autism and Developmental Disorders, 2021
Although children with Williams syndrome (WS) are reported to show a strong motivation towards social interaction, evidence suggests many experience difficulties with peer relations. Less is known regarding the characteristics of such difficulties. Parents and teachers of 21 children with WS (7- to 16 years) completed questionnaires measuring…
Descriptors: Peer Relationship, Children, Adolescents, Parent Attitudes
Associations between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study
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Mackay, Jessica; Nixon, Gillian M.; Lafferty, Antony R.; Ambler, Geoff; Kapur, Nitin; Bergman, Philip B.; Schofield, Cara; Seton, Chris; Tai, Andrew; Tham, Elaine; Vora, Komal; Crock, Patricia; Verge, Charles; Musthaffa, Yassmin; Blecher, Greg; Caudri, Daan; Leonard, Helen; Jacoby, Peter; Wilson, Andrew; Choong, Catherine S.; Downs, Jenny – Journal of Autism and Developmental Disorders, 2022
Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS…
Descriptors: Caregivers, Genetic Disorders, Intellectual Disability, Developmental Disabilities
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
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Thomason, Molly Mishler; McCarthy, John; Goin-Kochel, Robin P.; Dowell, Lauren R.; Schaaf, Christian P.; Berry, Leandra N. – Journal of Autism and Developmental Disorders, 2020
Truncating variants of the "MAGEL2" gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)--a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS…
Descriptors: Genetic Disorders, Neurological Impairments, Developmental Disabilities, Cognitive Ability
Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome
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Fitzpatrick, Sarah E.; Schmitt, Lauren M.; Adams, Ryan; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Sage, Jessica; Weber, Jayne Dixon; Dominick, Kelli C.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2020
To date, health related quality of life (QoL) has not been systematically evaluated in youth with fragile X syndrome (FXS), the most common single gene cause of autism and the most common inherited form of developmental disability. We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents…
Descriptors: Genetic Disorders, Children, Quality of Life, Autism
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
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Márquez-Caraveo, María Elena; Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Ramírez-García, Miguel Ángel; Pérez-Barrón, Verónica; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela – Journal of Autism and Developmental Disorders, 2021
The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…
Descriptors: Foreign Countries, Mexicans, Clinical Diagnosis, Genetic Disorders
Decreasing Food Stealing of Child with Prader-Willi Syndrome through Function-Based Differential Reinforcement
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Lambert, Joseph M.; Parikh, Naomi; Stankiewicz, Kristen C.; Houchins-Juarez, Nealetta J.; Morales, Vivian A.; Sweeney, Erin M.; Milam, Molly E. – Journal of Autism and Developmental Disorders, 2019
Challenging behaviors involving food are common for individuals with Prader-Willi syndrome (PWS) and often lead to obesity and other chronic health conditions. Efforts to decrease these behaviors, such as isolation during meals and strict monitoring of food consumption, can be stigmatizing. To decrease the food stealing of a 7 year-old girl with…
Descriptors: Food, Behavior Problems, Genetic Disorders, Developmental Disabilities
Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change over Time
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Ng-Cordell, Elise; Hanley, Mary; Kelly, Alyssa; Riby, Deborah M. – Journal of Autism and Developmental Disorders, 2018
Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links…
Descriptors: Anxiety, Genetic Disorders, Comorbidity, Parent Attitudes
An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes
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Ellis, Katherine; Oliver, Chris; Stefanidou, Chrysi; Apperly, Ian; Moss, Jo – Journal of Autism and Developmental Disorders, 2020
We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with…
Descriptors: Interpersonal Competence, Motivation, Neurological Impairments, Genetic Disorders
Telehealth Delivery of Function-Based Behavioral Treatment for Problem Behaviors Exhibited by Boys with Fragile X Syndrome
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Monlux, Katerina D.; Pollard, Joy S.; Bujanda Rodriguez, Arlette Y.; Hall, Scott S. – Journal of Autism and Developmental Disorders, 2019
Telehealth is increasingly being employed to extend the reach of behavior analytic interventions to families of children with developmental disorders who exhibit problem behaviors. In this preliminary study, we examined whether function-based behavior analytic interventions could be delivered via telehealth over 12 weeks to decrease problem…
Descriptors: Males, Genetic Disorders, Behavior Problems, Behavior Modification
Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome
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Ezell, Jordan; Hogan, Abigail; Fairchild, Amanda; Hills, Kimberly; Klusek, Jessica; Abbeduto, Leonard; Roberts, Jane – Journal of Autism and Developmental Disorders, 2019
Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors,…
Descriptors: Incidence, Predictor Variables, Anxiety, Anxiety Disorders
Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems
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Baptista, Joana; Sampaio, Adriana; Fachada, Inês; Osório, Ana; Mesquita, Ana R.; Garayzabal, Elena; Duque, Frederico; Oliveira, Guiomar; Soares, Isabel – Journal of Autism and Developmental Disorders, 2019
This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes--Williams syndrome (WS) and autism spectrum disorder (ASD)--and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included…
Descriptors: Mothers, Mother Attitudes, Child Rearing, Preschool Children
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