Results 21 to 30 of about 110,801 (250)

Sexuality and gender role in autism spectrum disorder: a case control study. [PDF]

PLoS ONE, 2014
The 'extreme male brain theory of autism' describes an extreme male pattern of cognitive traits defined as strong systemising abilities paired with empathising weaknesses in autism spectrum disorder.
Susanne Bejerot, Jonna M Eriksson
doaj   +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

Effects of Instructive Feedback on the Acquisition of Multiple Targets in Children with Autism Spectrum Disorder

Psychiatry International
Background: Children diagnosed with autism spectrum disorder (ASD) commonly show impairment in skills. Research has investigated procedures that may teach a skill and establish others through emergence, without direct instruction.
Daniel Carvalho de Matos, Ellen Neide Cutrim Nazareno, Rafisa Pereira Costa, Fabrício Brito Silva, Pollianna Galvão   +4 more
doaj   +1 more source

CO-OCCURRING GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER IN ADOLESCENCE [PDF]

Psychiatria Fennica, 2021
Adolescents with gender dysphoria have more autism spectrum disorder than in the general population. In our study, we describe gender-referred adolescents with autism spectrum disorder (n=19) and compare their adolescent development and mental health ...
Riittakerttu Kaltiala, Maria Sumia
doaj  

The environmental risk factors associated with fetal macrosomia: An umbrella review

Pediatrics and Neonatology
The present umbrella review evaluated the environmental risk factors prior to conception associated with fetal macrosomia based on meta-analyses and systematic reviews. We systematically searched international databases, including PubMed, Scopus, and Web
Ensiyeh Jenabi, Amir Mohammad Salehi, Sajjad Farashi, Zohreh Salimi   +3 more
doaj   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Navigating workplace stress: a qualitative exploration of mental healthcare workers’ lived experiences with STAPP@Work, a mobile stress management intervention

BMC Digital Health
Background Mental health workers (MHWs) face ongoing challenges, including heavy workloads, staff shortages, and pressure due to long patient waiting lists.
S. Demirel, Y. Roke, N. H. Chavannes, P. N. van Harten   +3 more
doaj   +1 more source

The Relationship between Sensory Integration and Communication Skills among Children with Autism Spectrum Disorder [PDF]

مجلة بحوث التعليم والإبتكار
This research  aimed to detect the relationship between sensory integration and communication skills in children with autism spectrum disorder, detect differences in sensory integration and communication skills in children with autism spectrum disorder ...
Dr. Mohamed Ragab Mohamed Sharaby
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Therapeutic responses to a frontal/executive programme in autism spectrum disorder: Comparison with schizophrenia

Hong Kong Journal of Occupational Therapy, 2018
Introduction Studies on autism spectrum disorder in recent years have controversially indicated similarities with schizophrenia. Cognitive dysfunction is present in both disorders, and while there is a rich array of interventions for cognitive ...
Maki Miyajima, Hidetoshi Omiya, Kiyoko Yamashita, Kenji Yambe, Mie Matsui, Kenzo Denda   +5 more
doaj   +1 more source