Results 41 to 50 of about 59,438 (255)

Therapeutic dietary approach to children with autistic spectrum disorder

open access: yesRevista de la Facultad de Medicina Humana, 2022
Autism spectrum disorder (ASD) is a neuropsychiatric disease, characterized by deficits in social communication, presence of restricted interests and repetitive behaviors.
Franco C. Isla Torres   +5 more
doaj   +1 more source

Role of the Immune System in Autism Spectrum Disorders (ASD) [PDF]

open access: yesCNS & Neurological Disorders - Drug Targets, 2018
Background: The evidence based supports that multifactorial and complex immune interactions play a role in autism spectrum disorders (ASD), but contradictory findings are also reported. Objective: The aim of this selective review was to identify trends in the research literature on this topic, focusing on immunology and other aberrations with ...
Ormstad, Heidi Kristin   +4 more
openaire   +6 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Polysubstance and Behavioral Addictions in a Patient with Bipolar Disorder: Role of Lifetime Subthreshold Autism Spectrum

open access: yesCase Reports in Psychiatry, 2018
This case report draws attention to the potential relevance of undetected autism spectrum symptoms in a bipolar patient with high work functioning showing a peculiar addictive profile with impulsive and antisocial behaviors.
Liliana Dell’Osso   +8 more
doaj   +1 more source

Nutrients deficiencies in patients with autism spectrum disorder, role of folic acid and vitamin D3 - review of literature

open access: yesJournal of Education, Health and Sport, 2023
Introduction and purpose: This article will discuss the relationship between nutrition deficiency, focusing on folic acid and vitamin D3 and autism spectrum disorder (ASD).
Dominika Małachowska   +8 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard   +6 more
wiley   +1 more source

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study

open access: yesFrontiers in Psychiatry
BackgroundClassical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties.
Aleksandra Gozdanek   +4 more
doaj   +1 more source

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