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 neurolo...
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2020-04-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/518 |
| _version_ | 1797879396967645184 |
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| author | O. A. Komissarova O. A. Milovanova G. G. Avakyan S. V. Bugriy |
| author_facet | O. A. Komissarova O. A. Milovanova G. G. Avakyan S. V. Bugriy |
| author_sort | O. A. Komissarova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T02:48:02Z |
| format | Article |
| id | doaj.art-a1473e69a9c340e692c08756e3d5f280 |
| institution | Directory Open Access Journal |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| last_indexed | 2024-04-10T02:48:02Z |
| publishDate | 2020-04-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj.art-a1473e69a9c340e692c08756e3d5f2802023-03-13T07:44:17ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882020-04-01121515810.17749/2077-8333.2020.12.1.51-58480Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical casesO. A. Komissarova0O. A. Milovanova1G. G. Avakyan2S. V. Bugriy3Moscow City Rehabilitation CenterRussian Medical Academy of Postgraduate EducationPirogov Russian National Research Medical UniversityRussian Medical Academy of Postgraduate EducationAim. 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.https://www.epilepsia.su/jour/article/view/518childhood autismwolf-hirschhorn syndromeprader-willi syndromecerebral palsycorpus callosum hypoplasiastructural focal epilepsy |
| spellingShingle | O. A. Komissarova O. A. Milovanova G. G. Avakyan S. V. Bugriy Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases Эпилепсия и пароксизмальные состояния childhood autism wolf-hirschhorn syndrome prader-willi syndrome cerebral palsy corpus callosum hypoplasia structural focal epilepsy |
| title | Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases |
| title_full | Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases |
| title_fullStr | Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases |
| title_full_unstemmed | Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases |
| title_short | Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases |
| title_sort | childhood autism associated with neurological manifestations and corpus callosum hypoplasia literature review and clinical cases |
| topic | childhood autism wolf-hirschhorn syndrome prader-willi syndrome cerebral palsy corpus callosum hypoplasia structural focal epilepsy |
| url | https://www.epilepsia.su/jour/article/view/518 |
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