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Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases


Aim. To consolidate literature data and to demonstrate rare hereditary neurogenetic syndromes with various neuropsychiatric manifestations and a corpus callosum (CC) structurally reduced in size.

Material and methods. Full text data from scholarly journals were used for the review. Mental and neurological disorders were studied in two examined patients with neurogenetic syndromes. A brain MRI showed that it was accompanied with CC hypoplasia. We conducted comprehensive analysis of anamnestic data as well as medical genetic, neurological, psychopathological, pathopsychological, laboratory, and instrumental examinations.

Results. The presented observations testified to a burdened obstetric history, dysfunctional ante-, intra-, and postnatal periods. The first patient with the Wolf-Hirschhorn syndrome was diagnosed with atypical autism associated with severe mental retardation, lack of verbal means of communication, motor stereotypes, structural focal epilepsy, cerebral palsy (CP), severe systemic speech underdevelopment; the second patient with the Prader-Willi syndrome was diagnosed with organic autism associated with mild mental retardation, impaired social adaptation in combination with stereotyped actions, impaired visual-spatial coordination, and cerebral palsy. In the first case, MRI showed posterior CC hypoplasia; in the second case, MRI showed hypoplasia of the CC isthmus.

Conclusion. The level of cognitive deficit was to some extent a value associated with the thickness of the posterior CC. Apparently, a higher degree of myelination of nerve fibers contributes to a higher rate of transmission of nerve impulses along nerve fibers stimulating neurons. The results can be considered preliminary; a larger study is needed.

About the Authors

O. A. Komissarova
Moscow City Rehabilitation Center
Russian Federation

Clinical Psychologist,

6a 1st Tekstilshchikov Str., Moscow 109390, Russia

O. A. Milovanova
Russian Medical Academy of Postgraduate Education
Russian Federation

MD, Dr Sci Med, Professor at the Department of Pediatric Neurology,

2-1 Barrikadnaya Str., 123995 Moscow, Russia

G. G. Avakyan
Pirogov Russian National Research Medical University
Russian Federation

MD, PhD, Department of Neurology, Neurosurgery and Medical Genetics,

1 Ostrovityanova Str., Moscow 117997, Russia

S. V. Bugriy
Russian Medical Academy of Postgraduate Education
Russian Federation

Graduate Student, Department of Pediatric Psychiatry and Psychotherapy,

2-1 Barrikadnaya Str., 123995 Moscow, Russia


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For citations:

Komissarova O.A., Milovanova O.A., Avakyan G.G., Bugriy S.V. Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases. Epilepsy and paroxysmal conditions. 2020;12(1):51-58. (In Russ.)

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