Syndromic autism: causes and pathogenetic pathways

Abstract

A wide variety of cytogenetic abnormalities have been recently described, particularly in the low functioning individuals with dysmorphic features. Routine metabolic screening studies should be performed in the presence of autistic regression or suggestive clinical findings. As etiologies of autism are progressively discovered, the number of individuals with idiopathic autism will progressively shrink. Studies of genetic and environmentally modulated epigenetic factors are beginning to provide some clues to clarify the complexities of autism pathogenesis. The role of the neuropediatrician will be to understand the neurological basis of autism, and to identify more homogenous subgroups with specific biologic markers.

Autism and Oxytocin: New Developments in Translational Approaches to Therapeutics

“…77 Furthermore, in the presence of heterogeneity, multiple contributing loci, and different gene-environment interactions, genetic factors linked to autism are highly complex. 84 In human studies, and in contrast to animal research, it is difficult to administer a drug or take measurements centrally, because of the invasive nature of such procedures. With the exception of the recent epigenetic research by Gregory et al, 77 this significantly limits research.…”

Prevalence of Congenital Cytomegalovirus Infection Assessed Through Viral Genome Detection in Dried Blood Spots in Children with Autism Spectrum Disorders

“…Only in about 20% of cases is a definite etiology recognized. These cases are called "secondary ASD" (9). No definitive cause is found in the remaining 80% of cases, and these are designated "primary ASD" (10)(11)(12).…”

Autism and Genetic Syndromes

“…A distinction must nevertheless be made between the Autistic disorder as originally described by Kanner and the autism spectrum disorder, which can be viewed as a component of an array of clinical pictures and syndromes that are sometimes referred to as secondary or syndromic autism (Benvenuto et al, 2009). Given the complex interplay between genes and autism, a search for at least two types of genetic factors is of importance, namely: (rare) chromosomal abnormalities or gene alterations that can be directly related to core (i.e., classic) autism and genetic copy number variants that correlate with a vulnerability to develop an autistic disorder.…”