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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
Hannah R. Benavidez; Margaret Johansson; Elizabeth Jones; Hannah Rea; Evangeline C. Kurtz-Nelson; Conor Miles; Alana Whiting; Curtis Eayrs; Rachel Earl; Raphael A. Bernier; Evan E. Eichler; Emily Neuhaus – Journal of Autism and Developmental Disorders, 2025
Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate…
Descriptors: Predictor Variables, Intervention, Youth, Autism Spectrum Disorders
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
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
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
Li, Yan; Qiu, Shuang; Zhong, Weijing; Li, Yong; Liu, Yunkai; Cheng, Yi; Liu, Yawen – Journal of Autism and Developmental Disorders, 2020
Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, At Risk Persons
Dimitropoulos, Anastasia; Doernberg, Ellen A.; Russ, Sandra W.; Zyga, Olena – Journal of Autism and Developmental Disorders, 2022
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now…
Descriptors: Genetics, Intervention, Response to Intervention, Genetic Disorders
Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J. – Journal of Autism and Developmental Disorders, 2018
This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…
Descriptors: Comparative Analysis, Down Syndrome, Intelligence Quotient, Questionnaires
Gillentine, M. A.; Berry, L. N.; Goin-Kochel, R. P.; Ali, M. A.; Ge, J.; Guffey, D.; Rosenfeld, J. A.; Hannig, V.; Bader, P.; Proud, M.; Shinawi, M.; Graham, B. H.; Lin, A.; Lalani, S. R.; Reynolds, J.; Chen, M.; Grebe, T.; Minard, C. G.; Stankiewicz, P.; Beaudet, A. L.; Schaaf, C. P. – Journal of Autism and Developmental Disorders, 2017
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of…
Descriptors: Children, Genetics, Developmental Delays, Intellectual Disability
