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Direct linkMaría Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Giovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
María-Pilar López-Garrido; María-Carmen Carrascosa-Romero; Minerva Montero-Hernández; Jesús Ruiz-Almansa; Francisco Sánchez-Sánchez – Journal of Autism and Developmental Disorders, 2024
"ATRX" mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Symptoms (Individual Disorders), Intellectual Disability
Caitlin N. Harrington; Ana Morales; Jonathan A. Bernstein; Laurel Calderwood – Journal of Autism and Developmental Disorders, 2025
A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to…
Descriptors: Patients, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Kamara, Dana; De Boeck, Paul; Lecavalier, Luc; Neuhaus, Emily; Beauchaine, Theodore P. – Journal of Autism and Developmental Disorders, 2023
Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep…
Descriptors: Youth, Adults, Sleep, Problems
Amanda J. Haskins; Jeff Mentch; Caitlin Van Wicklin; Yeo Bi Choi; Caroline E. Robertson – Journal of Autism and Developmental Disorders, 2024
Sensory differences are nearly universal in autism, but their genetic origins are poorly understood. Here, we tested how individuals with an autism-linked genotype, 16p.11.2 deletion ("16p"), attend to visual information in immersive, real-world photospheres. We monitored participants' (N = 44) gaze while they actively explored 360°…
Descriptors: Autism Spectrum Disorders, Computer Simulation, Sensory Experience, Genetic Disorders
Banu Ahtam; Hyuk Jin Yun; Rutvi Vyas; Rudolph Pienaar; Josephine H. Wilson; Caroline P. Goswami; Laura F. Berto; Simon K. Warfield; Mustafa Sahin; P. Ellen Grant; Jurriaan M. Peters; Kiho Im – Journal of Autism and Developmental Disorders, 2024
A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC + ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing…
Descriptors: Morphology (Languages), Autism Spectrum Disorders, Genetic Disorders, Brain Hemisphere Functions
Darren R. Hocking; Xiaoyun Sun; Kristina Haebich; Hayley Darke; Kathryn N. North; Giacomo Vivanti; Jonathan M. Payne – Journal of Autism and Developmental Disorders, 2024
Atypical habituation to repetitive information has been commonly reported in Autism Spectrum Disorder (ASD) but it is not yet clear whether similar abnormalities are present in Neurofibromatosis Type 1 (NF1). We employed a cross-syndrome design using a novel eye tracking paradigm to measure habituation in preschoolers with NF1, children with…
Descriptors: Preschool Children, Autism Spectrum Disorders, Genetic Disorders, Repetition
Masahiro Hirai; Ayaka Ikeda; Takeo Kato; Takahiro Ikeda; Kosuke Asada; Yoko Hakuno; Kanae Matsushima; Tomonari Awaya; Shin Okazaki; Toshihiro Kato; Toshio Heike; Masatoshi Hagiwara; Takanori Yamagata; Kiyotaka Tomiwa; Ryo Kimura – Journal of Autism and Developmental Disorders, 2025
Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder. Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.8 years) and autistic (n = 39, 4.2-14.0 years) groups. Results: The…
Descriptors: Sensory Experience, Profiles, Autism Spectrum Disorders, Genetic Disorders
Melissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
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
Annunziata, Silvia; Bulgheroni, Sara; D'Arrigo, Stefano; Esposito, Silvia; Taddei, Matilde; Saletti, Veronica; Alfei, Enrico; Sciacca, Francesca Luisa; Rizzo, Ambra; Pantaleoni, Chiara; Riva, Daria – Journal of Autism and Developmental Disorders, 2023
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Symptoms (Individual Disorders), Individual Characteristics
Kleberg, Johan Lundin; Riby, Deborah; Fawcett, Christine; Björlin Avdic, Hanna; Frick, Matilda A.; Brocki, Karin C.; Högström, Jens; Serlachius, Eva; Nordgren, Ann; Willfors, Charlotte – Journal of Autism and Developmental Disorders, 2023
Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically…
Descriptors: Genetic Disorders, Eye Movements, Children, Adolescents
Amrita Minhas; Kerri Whitlock; Cory Rosenfelt; Julie Shatto; Brittany Finlay; Jennifer Zwicker; Sarah Lippe; Sebastien Jacquemont; Randi Hagerman; Kara Murias; Francois V. Bolduc – Journal of Autism and Developmental Disorders, 2025
The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X…
Descriptors: Genetic Disorders, Mental Health, Sleep, Symptoms (Individual Disorders)
Eva Shin; Caitlin Ravichandran; Danielle Renzi; Barbara R. Pober; Christopher J. McDougle; Robyn P. Thom – Journal of Autism and Developmental Disorders, 2024
Purpose: This study describes participant diversity in Williams syndrome (WS) intervention studies. Methods: A literature search was conducted to identify prospective treatment studies including participants with WS. Data was extracted on the reporting of and information provided on age, sex, cognitive ability, socioeconomic status, race, and…
Descriptors: Genetic Disorders, Disabilities, Cognitive Ability, Socioeconomic Status
