Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autism Spectrum Disorders (ASD) are diagnosed in early childhood and include Autism, Asperger's disorder and Pervasive neurodevelopmental disorder--not otherwise specified (PDD-NOS, or atypical autism). ASD are associated with varying degrees of dysfunctional communication and social skills, repetitive and stereotypic behaviors, as well as attention and learning disabilities. Most ASD patients also have food intolerance and other allergic symptomatology indicative of mast cell activation. The number of ASD cases have increased over the last decade to 1/100, but there is no definite pathogenesis or curative therapy. We report that the apparent prevalence of ASD in patients with mastocytosis, a rare disease occurring in 1/4,000 children and characterized by an increased number of hypersensitive mast cells in many organs, is about 1/10 or 10 times higher than the general population. A child with skin mastocytosis (urticaria pigmentosa), and regressive autism is presented to illustrate the point. Allergic, infectious, neuroimmune and environmental triggers may activate mast cells to release vasoactive, inflammatory and neurotoxic molecules. These could disrupt the gut-blood-brain-barriers, and/or activate susceptibility genes, thus contributing to brain inflammation and ASD.
...
PMID:Autism spectrum disorders and mastocytosis. 2007 49