Results 41 to 50 of about 317,154 (292)

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

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

A Qualitative Study of the Effects of the University of Arkansas Autism Support Program [PDF]

, 2017
Individuals who have been diagnosed with autism spectrum disorder are often united by the following characteristics: difficulty communicating and interacting with others, inhibited ability to function socially, difficulty functioning academically or at ...
Post, Jessica
core   +2 more sources

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

Memory, learning and language in autism spectrum disorder [PDF]

, 2018
Background and aims: The ‘dual-systems’ model of language acquisition has been used by Ullman and colleagues to explain patterns of strength and weakness in the language of higher-functioning people with autism spectrum disorder (ASD).
Bodison S., Boucher J., Bowler D., Fay W., Kim S. H., Mottron L., Prévost P., Tager-Flusberg H., Travers B. G., Wing L.   +9 more
core   +2 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

The effect of the stress autism mate app on perceived stress, coping, and resilience in adults with autism: a single-case experimental design

Frontiers in Psychiatry
IntroductionThe mobile health application “Stress Autism Mate” (SAM) was designed to support adults with autism in identifying and managing daily stress.
Kirsten Hoeberichts, Kirsten Hoeberichts, Yvette Roke, Irene Niks, Peter N. van Harten, Peter N. van Harten   +5 more
doaj   +1 more source

The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

Autism and Developmental Language Impairments, 2017
Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome.
Emily Lorang, Audra Sterling,
doaj   +1 more source

Autism Spectrum Disorders: Wading through the controversies on the web [PDF]

, 2009
Autism is one of three developmental disorders in the group known as the autism spectrum disorders (ASDs). This spectrum of disorders has an estimated prevalence of one in 150 children.
Coates, Heather L.
core   +1 more source