Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism

Abstract

The role of Project 1 in this Program Project is: 1. To preserve tissue from 72 brains, according to a standardized protocol for neuropathological studies (project # 1) and for morphometric studies (project# 2); 2. To implement clinical and neuropathological exclusion criteria to reduce the risk of distortion of results and conclusions by comorbidity, pre-, peri, and postmortem tissue changes, (3) to define type, topography and severity of qualitative developmental alterations in idiopathic autism and autism associated with dup15, and (4) to examine correlations between focal developmental changes and epilepsy and sudden death. Severe microcephaly, with brain weight reduced by 300 g is one of the most significant signs of global encephalopathy increasing the risk of epilepsy in dup 15 cohort. 2.8 times more frequent developmental alterations, especially common in the hippocampal formation of autistic subjects with dup15, and presence up to 11 different types of developmental alterations are the major contributors to early onset of epilepsy and high risk of SUDEP. Reduced volume of neurons in a majority of subcortical structures and some cortical regions in the brain of autistic children with known and unknown etiology indicates that altered trajectory of neuron growth and desynchronization of neuronal development is a common denominator for autism regardless of etiology and is linked to autistic phenotype and intellectual deficits. However, different pattern of developmental deficits neuron volume in idiopathic autism (most severe volume deficit in 4-8 years old subjects and correction of neuron size in late childhood) than in autism associated with dup (15) (permanent neuron volume deficit regardless of age) indicates that etiology defines the trajectory of neuron and brain development.

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Document Details

Document Type
Technical Report
Publication Date
Oct 01, 2012
Accession Number
ADA567855

Entities

People

  • Jerzy Wegiel
  • Ted Brown
  • Thomas Wisniewski

Organizations

  • Research Foundation For Mental Hygiene

Tags

DTIC Thesaurus Topics

  • Alzheimer Disease
  • Autism
  • Biomedical Research
  • Brain
  • Cells
  • Chromosome Aberrations
  • Death
  • Genetics
  • Health Services
  • Intellectual Disability
  • Neurosciences

Fields of Study

  • Medicine
  • Psychology

Readers

  • Molecular and genetic basis of cancer.
  • Neuroscience