AI Article Synopsis
Article Abstract
Autistic disorders are heterogeneous. Affected individuals show impairments in communication and social interaction, as well as stereotypic, repetitive behaviour and special interests. The majority of autistic disorders are genetic in origin. The current article presents an overview of cytogenetic findings, as well as of results of molecular genetic linkage and association studies. Important differential diagnoses will be described. The results of genetic studies are especially relevant with regard to genetic counselling for affected families.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1024/1422-4917.36.1.7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Impact of Astroglia Kir4.1 Channel Dysfunction on Neuronal Activity and Autism-Related Behavioral Abnormalities.
Glia
January 2025
Neurophysiology Research Center, Institute of Neuroscience and Cognition, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Autism spectrum disorder (ASD) is marked by neurobehavioral developmental deficits, potentially linked to disrupted neuron-glia interactions. The astroglia Kir4.1 channel plays a vital role in regulating potassium levels during neuronal activation, and mutations in this channel have been associated with ASD.
View Article and Find Full Text PDFClinicians' Experiences of Eating Disorder Focused Family Therapy With Autistic Young People.
Eur Eat Disord Rev
January 2025
Department of Clinical & Health Psychology, University of Edinburgh, Edinburgh, UK.
Objective: Eating disorder focused family therapy (FT-ED) is the leading outpatient intervention for adolescents with Anorexia Nervosa. Autistic people report poorer eating disorder treatment experiences and may be at increased risk of inpatient admissions. There is a need to consider adaptions to eating disorder treatment for this population.
View Article and Find Full Text PDFAutistic and transgender/gender diverse people's experiences of health and healthcare.
Mol Autism
January 2025
Department of Psychiatry, Autism Research Centre, University of Cambridge, Douglas House, 18B Trumpington Road, Cambridge, CB2 8AH, UK.
Background: Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals, respectively. Despite this, there is a paucity of studies on the healthcare experiences and health outcomes of transgender/gender diverse autistic individuals.
Methods: We compared the healthcare experiences and health outcomes of cisgender autistic (n = 1094), transgender/gender diverse autistic (n = 174), and cisgender non-autistic adults (n = 1295) via an anonymous, self-report survey.
Different paths to multilingualism in Autism Spectrum Disorder (ASD): Naturalistic and non-interactive.
J Child Lang
January 2025
Department of English Literature and Linguistics, Bar-Ilan University, Ramat Gan, Israel.
This study is one of the few research efforts investigating unexpected non-interactive foreign language acquisition in children with Autism Spectrum Disorder (ASD). Participants included 46 English-Hebrew-speaking children (ages 4;10 to 12;0): 14 autistic children who acquired English via non-interactive input (ASD-NI); 12 autistic children (ASD-Nat), and 20 non-autistic children with typical language development (TLD-Nat) who acquired English and Hebrew naturalistically. Morpho-syntactic abilities were assessed using Sentence Repetition tasks in both languages.
View Article and Find Full Text PDFThe Alexithymia Hypothesis of Autism Revisited: Alexithymia Modulates Social Brain Activity During Facial Affect Recognition in Autistic Adults.
Biol Psychiatry Cogn Neurosci Neuroimaging
January 2025
Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg Germany.
Background: Autism Spectrum Disorder (ASD) and alexithymia are both linked to difficulties in facial affect recognition (FAR) alongside differences in social brain activity. According to the Alexithymia Hypothesis, difficulties in emotion processing in ASD can be attributed to increased levels of co-occurring alexithymia. Despite substantial evidence supporting the hypothesis at the behavioral level, the effects of co-occurring alexithymia on brain function during FAR remain unexplored.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!