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)

Drugs targeting metabotropic glutamate receptor 5 (mGluR5) have therapeutic potential in autism spectrum disorders (ASD), including tuberous sclerosis complex (TSC). The question whether inhibition or potentiation of mGluR5 could be beneficial depends, among other factors, on the specific indication. To facilitate the development of mGluR5 treatment strategies, we tested the therapeutic utility of mGluR5 negative and positive allosteric modulators (an mGluR5 NAM and PAM) for TSC, using a mutant mouse model with neuronal loss of Tsc2 that demonstrates disease-related phenotypes, including behavioral symptoms of ASD and epilepsy. This model uniquely enables the in vivo characterization and rescue of the electrographic seizures associated with TSC. We demonstrate that inhibition of mGluR5 corrects hyperactivity, seizures, and elevated de novo synaptic protein synthesis. Conversely, positive allosteric modulation of mGluR5 results in the exacerbation of hyperactivity and epileptic phenotypes. The data suggest a meaningful therapeutic potential for mGluR5 NAMs in TSC, which warrants clinical exploration and the continued development of mGluR5 therapies.
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PMID:mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. 2920 10

Physical activity may improve symptoms and skill deficits associated with autism spectrum disorder (ASD). The objective of this study was to compare the reported frequency of physical activity and covariates in a large sample of children with ASD with children of similar age from the general population. The sample with ASD was derived from the Autism Treatment Network Registry Call Back Assessment (n = 611), and the general population data were derived from the National Survey of Children's Health (NSCH) (n = 71,811). In addition, demographic, child, and family (parent) factors were examined in relation to frequency of recent physical activity in children with ASD. Among males in the 6-11 year-old age group, those with ASD participated in physical activity less often (p <0.001) than those in the NSCH general population. Specifically, 33 % of boys 6-11 years old in the NSCH group vs. only 17 % in the RCBA group 6-11 years old engaged in some physical activity every day, while 4 % of boys in the NSCH group vs. 18 % in the RCBA group engaged in no physical activity whatsoever. A similar effect was seen across other age groups and in females but was not statistically significant. The demographic, child, and family characteristics associated with physical activity in children and adolescents with ASD included ethnicity in females, DSM-IV ASD diagnosis, IQ, and PAM-13 total score in females. Parents and caregivers are encouraged to find suitable physical activity programs for children with ASD. This may be especially important for 6-11 year-old boys with ASD who engage in significantly less physical activity than their peers in the general population.
Res Autism Spectr Disord 2020 Feb
PMID:Physical activity rates in children and adolescents with autism spectrum disorder compared to the general population. 3232 97