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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
Chow, Julie C.; Hormozdiari, Fereydoun – Journal of Autism and Developmental Disorders, 2023
The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an…
Descriptors: Prediction, Neurodevelopmental Disorders, Identification, Genetics
Hickman, Allison R.; Selee, Bradley; Pauly, Rini; Husain, Benafsh; Hang, Yuqing; Feltus, Frank Alex – Journal of Autism and Developmental Disorders, 2023
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with…
Descriptors: Genetics, Autism Spectrum Disorders, Brain, Biochemistry
Okay, Kaan; Varis, Pelin Ünal; Miral, Süha; Pavlopoulou, Athanasia; Oktay, Yavuz; Karakülah, Gökhan – Journal of Autism and Developmental Disorders, 2023
Transposable elements (TEs) have been implicated in autism spectrum disorder (ASD). However, our understanding of their roles is far from complete. Herein, we explored de novo TE insertions (dnTEIs) and de novo variants (DNVs) across the genomes of dizygotic twins with ASD and their parents. The neuronal regulatory elements had a tendency to…
Descriptors: Genetics, Twins, Autism Spectrum Disorders, Etiology
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
Ní Ghrálaigh, Fiana; McCarthy, Ellen; Murphy, Daniel N.; Gallagher, Louise; Lopez, Lorna M. – Journal of Autism and Developmental Disorders, 2023
Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic…
Descriptors: Autism Spectrum Disorders, Genetics, Diagnostic Tests, Usability
Fujishiro, Sadayuki; Tsuji, Shoji; Akagawa, Shohei; Akagawa, Yuko; Yamanouchi, Sohsaku; Ishizaki, Yuko; Hashiyada, Masaki; Akane, Atsushi; Kaneko, Kazunari – Journal of Autism and Developmental Disorders, 2023
The gut microbiota was reported to differ between children with autism spectrum disorder (ASD) and typically developing (TD) children, and dysbiosis of the gut microbiota in preterm infants is common. Here, we explored the characteristics of gut microbiota in children born preterm with ASD. We performed 16S rRNA gene sequencing using stool samples…
Descriptors: Premature Infants, Autism Spectrum Disorders, Children, Microbiology
Julia Wynn; Anna Karlsen; Benjamin Huber; Alina Levine; Amanie Salem; L. Casey White; Marti Luby; Ekaterina Bezborodko; Sabrina Xiao; Wendy K. Chung; Robert L. Klitzman; Paul S. Appelbaum – Journal of Autism and Developmental Disorders, 2025
Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK…
Descriptors: Genetics, Screening Tests, Parent Attitudes, Parent Child Relationship
Sohair Salem; Engy Ashaat – Journal of Autism and Developmental Disorders, 2024
Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant…
Descriptors: Genetics, Brain, Correlation, Comparative Analysis
