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Sex- and Age-Related Differences in Autistic Behaviours in Children with Neurofibromatosis Type 1
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Chisholm, Anita K.; Lami, Francesca; Haebich, Kristina M.; Ure, Alex; Brignell, Amanda; Maloof, Tiba; Pride, Natalie A.; Walsh, Karin S.; Maier, Alice; Rouel, Melissa; Granader, Yael; Barton, Belinda; Darke, Hayley; Fuelscher, Ian; Dabscheck, Gabriel; Anderson, Vicki A.; Williams, Katrina; North, Kathryn N.; Payne, Jonathan M. – Journal of Autism and Developmental Disorders, 2023
This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score [greater than or equal to] 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation…
Descriptors: Gender Differences, Age Differences, Autism Spectrum Disorders, Symptoms (Individual Disorders)
Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the Forward Registry and Database Multisite Study
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Ave M. Lachiewicz; Tracy M. Stackhouse; Kristin Burgess; Debra Burgess; Howard F. Andrews; Tse-Hwei Choo; Walter E. Kaufmann; Sharon A. Kidd – Journal of Autism and Developmental Disorders, 2024
This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural…
Descriptors: Sensory Experience, Symptoms (Individual Disorders), Genetic Disorders, Arousal Patterns
Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
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LaBianca, Sonja; LaBianca, Jette; Pagsberg, Anne Katrine; Jakobsen, Klaus Damgaard; Appadurai, Vivek; Buil, Alfonso; Werge, Thomas – Journal of Autism and Developmental Disorders, 2021
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we…
Descriptors: Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder, Comorbidity
Brief Report: Associations between Self-Injurious Behaviors and Abdominal Pain among Individuals with ASD-Associated Disruptive Mutations
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Kurtz-Nelson, Evangeline C.; Tham, See Wan; Ahlers, Kaitlyn; Cho, Daniel; Wallace, Arianne S.; Eichler, Evan E.; Bernier, Raphael A.; Earl, Rachel K. – Journal of Autism and Developmental Disorders, 2021
Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30%…
Descriptors: Self Destructive Behavior, Injuries, Autism, Pervasive Developmental Disorders
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
Parents' Use of Internal State Language with Toddlers at High and Low Genetic Risk for Autism Spectrum Disorder
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Campbell, Susan B.; Mahoney, Amanda S.; Brownell, Celia A.; Moore, Elizabeth L.; Tavares, Amy B. – Journal of Autism and Developmental Disorders, 2019
Parents of toddlers with an older sibling with autism spectrum disorder (ASD; high risk, HR) and parents of low risk (LR) toddlers with typically-developing older siblings read a wordless picture book to their child at 22 and 28 months. Parents' and toddlers' internal state language (ISL) was coded; parents reported on toddlers' use of ISL.…
Descriptors: Parents, Toddlers, Siblings, Autism
Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends over a Decade
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Usher, Lauren V.; DaWalt, Leann S.; Hong, Jinkuk; Greenberg, Jan S.; Mailick, Marsha R. – Journal of Autism and Developmental Disorders, 2020
This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling…
Descriptors: Adolescents, Adults, Genetic Disorders, Gender Differences
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
Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis
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Eckert, Eleanor M.; Dominick, Kelli C.; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Andrews, Howard; Choo, Tse-Hwei; Chen, Chen; Kaufmann, Walter E.; Tartaglia, Nicole; Berry-Kravis, Elizabeth M.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2019
Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS,…
Descriptors: Genetic Disorders, Self Destructive Behavior, Aggression, Behavior Problems
Autism Spectrum Symptomatology among Children with Duplication 7q11.23 Syndrome
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Klein-Tasman, Bonita P.; Mervis, Carolyn B. – Journal of Autism and Developmental Disorders, 2018
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. ("Neuron" 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism…
Descriptors: Autism, Pervasive Developmental Disorders, Clinical Diagnosis, Age Differences
Resting and Task-Modulated High-Frequency Brain Rhythms Measured by Scalp Encephalography in Infants with Tuberous Sclerosis Complex
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Stamoulis, Catherine; Vogel-Farley, Vanessa; Degregorio, Geneva; Jeste, Shafali S.; Nelson, Charles A. – Journal of Autism and Developmental Disorders, 2015
The electrophysiological correlates of cognitive deficits in tuberous sclerosis complex (TSC) are not well understood, and modulations of neural dynamics by neuroanatomical abnormalities that characterize the disorder remain elusive. Neural oscillations (rhythms) are a fundamental aspect of brain function, and have dominant frequencies in a wide…
Descriptors: Infants, Brain, Genetic Disorders, Medicine
The Persistence of Self-Injurious and Aggressive Behavior in Males with Fragile X Syndrome over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk Markers
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Crawford, Hayley; Karakatsani, Efthalia; Singla, Gursharan; Oliver, Chris – Journal of Autism and Developmental Disorders, 2019
Self-injurious and aggressive behaviors are common in fragile X syndrome (FXS). However, little is known about the persistence of these behaviors and associated risk markers. We established the prevalence and persistence of self-injurious and aggressive behaviors over eight years in males with FXS, and associations with risk markers. Results…
Descriptors: Self Destructive Behavior, Aggression, Males, Genetic Disorders
Age-Related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-Up Study
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Cochran, Lisa; Welham, Alice; Oliver, Chris; Arshad, Adam; Moss, Joanna F. – Journal of Autism and Developmental Disorders, 2019
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The…
Descriptors: Behavior Change, Followup Studies, Autism, Pervasive Developmental Disorders
The Longitudinal Effects of Parenting on Adaptive Behavior in Children with Fragile X Syndrome
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Warren, Steven F.; Brady, Nancy; Fleming, Kandace K.; Hahn, Laura J. – Journal of Autism and Developmental Disorders, 2017
Several studies have reported declines in adaptive behavior amongst children with fragile X syndrome (FXS) starting in middle childhood. We examined the effects of maternal responsivity on adaptive behavior in 55 children with FXS visited 5-6 times in their homes from early through middle childhood. Our analyses indicated that sustained maternal…
Descriptors: Genetic Disorders, Intellectual Disability, Children, Behavior Problems
Comparing Parental Well-Being and Its Determinants across Three Different Genetic Disorders Causing Intellectual Disability
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Mori, Yuka; Downs, Jenny; Wong, Kingsley; Heyworth, Jane; Leonard, Helen – Journal of Autism and Developmental Disorders, 2018
Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n…
Descriptors: Intellectual Disability, Well Being, Genetic Disorders, Multivariate Analysis
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