Results 11 to 20 of about 347,816 (272)

The effect of benign epileptiform discharges of childhood on cognitive function, behavior and speech

Эпилепсия и пароксизмальные состояния, 2022
The article presents a case  report, and a literature review on benign epileptiform  discharges of childhood (BEDC) as well as effect of this type of epileptiform activity on speech, behavior and communication skills are analyzed.
E. A. Morozova, M. V. Belousova, D. V. Morozov, M. A. Utkuzova   +3 more
doaj   +1 more source

An exploratory study of imagining sounds and “hearing” music in autism [PDF]

, 2020
Individuals with autism spectrum disorder (ASD) reportedly possess preserved or superior music-processing skills compared to their typically developing counterparts. We examined auditory imagery and earworms (tunes that get “stuck” in the head) in adults
Bacon, Alex, Beaman, C. Philip, Liu, Fang   +2 more
core   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

Cutaneous Xanthogranuloma of the Face – An Uncommon Clinical Diagnosis and Challenging Reconstruction

Acta Medica Bulgarica, 2020
Cutaneous xanthogranuloma is a rare benign tumor and both adults and children could be affected. Head and neck area of the human body is the most commonly affected one which often poses a serious reconstructive challenge for the plastic surgeon who is in
Yordanov Y., Shef A., Bogdanova O., Hristov I.   +3 more
doaj   +1 more source

Longitudinal EEG power in the first postnatal year differentiates autism outcomes [PDF]

, 2019
An aim of autism spectrum disorder (ASD) research is to identify early biomarkers that inform ASD pathophysiology and expedite detection. Brain oscillations captured in electroencephalography (EEG) are thought to be disrupted as core ASD pathophysiology.
Gabard-Durnam, Laurel J., Kapur, Kush, Levin, April R., Nelson, Charles A., Tager-Flusberg, Helen, Wilkinson, Carol   +5 more
core   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Communication strategies used by adolescents with autism spectrum disorder and health professionals during treatment

African Journal of Disability, 2022
Background: Autism spectrum disorder (ASD) is a developmental disorder, which affects social communicative capabilities. The research study has shown that ASD studies are focused on young children, excluding adolescents and adults: and it is understudied
Monica Araujo, Munyane Mophosho, Sharon Moonsamy   +2 more
doaj   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

A Pilot Study Investigating the Feasibility and Acceptability of a Parent-Only Behavioral Weight-Loss Treatment for Children with Autism Spectrum Disorder. [PDF]

, 2019
Evidence-based weight-loss treatments for children with autism spectrum disorder (ASD) are lacking. Therefore, a parent-based weight-loss treatment for children with ASD (PBT-ASD) was developed.
Boutelle, Kerri N, Drahota, Amy, Matheson, Brittany E   +2 more
core   +1 more source

Work of Support Group for Adults with Asperger’s Syndrome in Russia

Аутизм и нарушение развития, 2020
Problems with Asperger's syndrome diagnostic in adults in Russia and obsolete practice of replacement of the diagnosis after age of 18 caused necessity of organization of specialized supports and efforts for social adaptation of such ...
A.S. Steinberg, A.L. Voskov
doaj   +1 more source