Autism Spectrum Disorder
Cluster Number:
Wiki Number: W017
Diagnosis: Autism Spectrum Disorder
US Patients: 1.5Mil
World Patients: 62Mil
Sex Ratio: 4B;1G
Age Onset: By 1
Brain Area: Enlarged frontal and temporal lobes, mirrror neurons, corpus callosum
Symptoms: poor communication, repetitive behaviors
Progression: delayed language & cognitive development; 50% head banging, self-biting;10% savants
Causes: 75% genetic from 1000 genes; not enough GABA, less brain connectivity between regions
Medications: risperdone
Therapies: earlier, the better; teach coping skills, awareness of others’ presence, interests
Youtube Video: Meet the Experts:
Autism Explained: A Guide to Autism
Amazon or Library Book: Kids With Autism Spectrum Disorder
Amazon or Library Book: Parenting a Child with Autism
Click the book to link or order from Amazon.
Click the book to link or order from Amazon.
Contact your school for Special Education under the
U.S. Department of Education’s Individuals with
Disabilities Education Act, Section 300.8.
Contact your local Social Security office for possible Disability Benefits through their Disability Determination Services, Section12.10.
4 CURRENT ARTICLES
FROM PUBMED
The world-wide medical research
reports chosen for each diagnosis
Clicking each title opens the
PubMed article’s summary-abstract.
- Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndromeby Albin Blanc on May 7, 2024
The autosomal dominant Okur-Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non-specific dysmorphic facial features. OCNDS is caused by heterozygous pathogenic variants in CSNK2A1 (OMIM *115440; NM_177559.3). To date, 160 patients have been diagnosed worldwide. The...
- Transcriptomic characterization of human lateral septum neurons reveals conserved and divergent marker genes across speciesby Robert A Phillips on May 7, 2024
The lateral septum (LS) is a midline, subcortical structure, which regulates social behaviors that are frequently impaired in neurodevelopmental disorders including schizophrenia and autism spectrum disorder. Mouse studies have identified neuronal populations within the LS that express a variety of molecular markers, including vasopressin receptor, oxytocin receptor, and corticotropin releasing hormone receptor, that control specific facets of social behavior. Despite its critical role in the...
- PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromesby Dana T Byrd on May 7, 2024
PACS (Phosphofurin Acidic Cluster Sorting Protein) proteins are known for their roles in sorting cargo proteins to organelles and can physically interact with WD40 repeat-containing protein WDR37. PACS1, PACS2, and WDR37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and autism spectrum disorder. However, the effects of syndromic variants on function in...
- Social communication and restricted, repetitive behavior as assessed with a diagnostic tool for autism (ADOS-2) in women with anorexia nervosaby Emma Saure on May 7, 2024
OBJECTIVE: In anorexia nervosa (AN), the traits of autism spectrum disorder (ASD) are associated with poor outcomes. However, the subtle nature of these characteristics remains poorly understood. We investigated the in-depth patterns of ASD traits using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) in women with AN.