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Autism--genetics, electrophysiology and clinical syndromes.

作者信息

Pop-Jordanova Nada, Plasevska-Karanfilska Dijana

机构信息

Macedonian Academy of Sciences and Arts, Skopje, R. Macedonia.

出版信息

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):133-46.

PMID:24802198
Abstract

Autism is a severe and the most heritable developmental disorder, whose pathogenesis is still largely unknown. The rising incidence of autism in the last decade has increased the scientific interest and research. More than a thousand papers concerned with information about the etiology of this "static disorder of the immature brain" can be found on Pub Med. The aim of this paper is to give a review of published genetic chromosomal anomalies associated with autistic spectrum disorders, as well as to discuss common syndromes associated with autistic traits. In addition, some of our own findings in genetics, as well as in quantitative electroencephalography and neurofeedback training in autistic children, will be presented and discussed. Generally, the subsequent analyses indicate that the causes of autism include fewer common single-gene mutations and chromosomal abnormalities, as well as multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci and positional and functional candidate genes which appear to represent possible risks of the autistic spectrum. Electrophysiological findings showed high delta/theta activity in frontal-central regions, while in 25% high beta activity was detected as a result of anxiety. Neurofeedback is a promising therapy for symptom mitigation.

摘要

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