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Direct linkSiddharth Srivastava; Kristina Johnson; Cristan Farmer; Tess Levy; Audrey Thurm; Latha Valluripalli Soorya; Rajna Filip-Dhima; Aisling Quinlan; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Joseph D. Buxbaum; Mustafa Sahin; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
Phelan-McDermid syndrome (PMS), caused by "SHANK3" haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed longitudinal Vineland…
Descriptors: Genetic Disorders, Children, Adolescents, Young Adults
Allen, Caitlin G.; Green, Ridgely Fisk; Dowling, Nicole F.; Fairley, Temeika L.; Khoury, Muin J. – Health Education & Behavior, 2023
Problem Addressed: To better understand the factors associated with family cancer history (FCH) information and cancer information seeking, we model the process an individual undergoes when assessing whether to gather FCH and seek cancer information and compare models by sociodemographics and family history of cancer. We used cross-sectional data…
Descriptors: Cancer, Heredity, Genetic Disorders, Information Seeking
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)
Hirano, Daisuke; Goto, Yoshinobu; Shoji, Hiroaki; Taniguchi, Takamichi – Journal of Applied Research in Intellectual Disabilities, 2022
Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…
Descriptors: Genetic Disorders, Behavior Problems, Intervention, Age Differences
Chloe Austerberry; Pasco Fearon; Angelica Ronald; Leslie D. Leve; Jody M. Ganiban; Misaki N. Natsuaki; Daniel S. Shaw; Jenae M. Neiderhiser; David Reiss – Child Development, 2024
This study examined gene-environment correlation (rGE) in intellectual and academic development in 561 U.S.-based adoptees (57% male; 56% non-Latinx White, 19% multiracial, 13% Black or African American, 11% Latinx) and their birth and adoptive parents between 2003 and 2017. Birth mother intellectual and academic performance predicted adoptive…
Descriptors: Genetic Disorders, Adoption, Mothers, Cognitive Ability
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
Block, Elisa; Farran, Emily K.; Van Herwegen, Jo – American Journal on Intellectual and Developmental Disabilities, 2022
The block design task (BDT) is a visuospatial measure that individuals with Williams syndrome (WS) perform poorly on. However, it is unclear what underlies their impaired performance. This study investigated whether poorer performance is a result of visuospatial difficulties, executive function (EF) difficulties, atypical looking strategies, or a…
Descriptors: Task Analysis, Visual Perception, Spatial Ability, Executive Function
Hellquist, Anna; Tammimies, Kristiina – Autism: The International Journal of Research and Practice, 2022
Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden…
Descriptors: Foreign Countries, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Sarah Nelson Potter; Danielle Harvey; Audra Sterling; Leonard Abbeduto – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother--child relationship.…
Descriptors: Family (Sociological Unit), Parents, Parent Participation, Parent Child Relationship
