Publication Date
| In 2025 | 7 |
| Since 2024 | 19 |
| Since 2021 (last 5 years) | 64 |
| Since 2016 (last 10 years) | 151 |
| Since 2006 (last 20 years) | 248 |
Descriptor
| Genetic Disorders | 248 |
| Autism | 124 |
| Pervasive Developmental… | 103 |
| Symptoms (Individual… | 79 |
| Children | 78 |
| Comparative Analysis | 54 |
| Behavior Problems | 46 |
| Intellectual Disability | 45 |
| Genetics | 42 |
| Adolescents | 34 |
| Interpersonal Competence | 33 |
| More ▼ | |
Source
| Journal of Autism and… | 248 |
Author
Publication Type
| Journal Articles | 248 |
| Reports - Research | 222 |
| Reports - Evaluative | 21 |
| Reports - Descriptive | 5 |
| Information Analyses | 4 |
| Opinion Papers | 1 |
| Tests/Questionnaires | 1 |
Education Level
| Adult Education | 1 |
Audience
Location
| Australia | 4 |
| Sweden | 2 |
| Brazil | 1 |
| California | 1 |
| China | 1 |
| Denmark | 1 |
| Finland | 1 |
| Georgia | 1 |
| Greece | 1 |
| Israel | 1 |
| Jamaica | 1 |
| More ▼ | |
Laws, Policies, & Programs
Assessments and Surveys
What Works Clearinghouse Rating
Peer reviewed
Direct linkGiovanna 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
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
Fouad A. Alshaban; Mohammad Aldosari; Iman Ghazal; Hawraa Al-Shammari; Saba ElHag; I. Richard Thompson; Jennifer Bruder; Hibah Shaath; Fatema Al-Faraj; Mohamed Tolefat; Assal Nasir; Eric Fombonne – Journal of Autism and Developmental Disorders, 2025
Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor…
Descriptors: Risk, Symptoms (Individual Disorders), Autism Spectrum Disorders, Environmental Influences
Sepideh Saroukhani; Maureen Samms-Vaughan; Jan Bressler; MinJae Lee; Courtney Byrd-Williams; Manouchehr Hessabi; Megan L. Grove; Sydonnie Shakespeare-Pellington; Katherine A. Loveland; Mohammad H. Rahbar – Journal of Autism and Developmental Disorders, 2024
To investigate additive and interactive associations of food allergies with three glutathione S-transferase (GST) genes in relation to ASD and ASD severity in Jamaican children. Using data from 344 1:1 age- and sex-matched ASD cases and typically developing controls, we assessed additive and interactive associations of food allergies with…
Descriptors: Food, Allergy, Genetics, Autism Spectrum Disorders
Powell, Bradley; Van Herwegen, Jo – Journal of Autism and Developmental Disorders, 2022
This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the…
Descriptors: Sensory Experience, Perceptual Impairments, Genetic Disorders, Children
Ajmone, Paola Francesca; Allegri, Beatrice; Cereda, Anna; Michelini, Giovanni; Dall'Ara, Francesca; Mariani, Milena; Rigamonti, Claudia; Selicorni, Angelo; Vizziello, Paola; Costantino, Maria Antonella – Journal of Autism and Developmental Disorders, 2022
Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently, we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Intelligence Quotient, Adjustment (to Environment)
Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
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
Hall, Scott S.; Riley, Matthew J.; Weston, Robyn N.; Lepage, Jean-Francois; Hong, David S.; Jo, Booil; Hallmayer, Joachim; Reiss, Allan L. – Journal of Autism and Developmental Disorders, 2022
Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and…
Descriptors: Genetics, Anxiety Disorders, Symptoms (Individual Disorders), Interpersonal Competence
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
Hettiarachchi, D.; Neththikumara, N. F.; Pathirana, B. A. P. S.; Dissanayake, V. H. W. – Journal of Autism and Developmental Disorders, 2020
Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 ("MECP2") of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in…
Descriptors: Foreign Countries, Genetic Disorders, Females, Neurological Impairments
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
Abel, Emily A.; Schwichtenberg, A. J.; Mannin, Olivia R.; Marceau, Kristine – Journal of Autism and Developmental Disorders, 2020
Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment,…
Descriptors: Genetics, Sleep, Autism, Pervasive Developmental Disorders
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
