Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

R Pilarski, R Burt, W Kohlman, L Pho… - Journal of the …, 2013 - academic.oup.com
Background PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders
caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic …

Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

Pyramidal cell regulation of interneuron survival sculpts cortical networks

FK Wong, K Bercsenyi, V Sreenivasan, A Portalés… - Nature, 2018 - nature.com
Complex neuronal circuitries such as those found in the mammalian cerebral cortex have
evolved as balanced networks of excitatory and inhibitory neurons. Although the …

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

GB Schaefer, NJ Mendelsohn - Genetics in medicine, 2013 - nature.com
The autism spectrum disorders are a collective of conditions that have in common impaired
socialization and communication in association with stereotypic behaviors. The reported …

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Identification and evaluation of children with autism spectrum disorders

CP Johnson, SM Myers - Pediatrics, 2007 - publications.aap.org
Autism spectrum disorders are not rare; many primary care pediatricians care for several
children with autism spectrum disorders. Pediatricians play an important role in early …