D²AGNOSTICS OF ANGELMAN SYNDROME IN CHILDREN
Journal Title: Ukrainian Scientific Medical Youth Journal / Український Науково-Медичний Молодіжний Журнал - Year 2013, Vol 73, Issue 2
Abstract
Group of children with developmental delaynand speech impairment is large and polyetiology. Success in the rehabilitation of these children depends on the correct diagnosis, so it is important to attract the various experts, including geneticists to the diagnostic process. Angelman syndrome (AS) – is a neurodevelopmental disorder which is characterized by intellectual and physical delay, sleep disturbance, seizures. AS is caused by deletion or inactivation of genes inherited from the mother’s copy of chromosome 15. This is an example of tissue-specific genomic imprinting. The diagnosis of AS was confirmed in four probands (26.7%) of the 15 patients which were referred for clarifying diagnosis (FISH-method). Del(15) (q11-q13) (UBE3A -, PML +) was found. The consistent clinical features of AS were found in all probands: developmental delay, functionally severe, movement or balance disorder, behavioral uniqueness, hypermotoric behavior, speech impairment. All probands were born full-term. After 6 months, there were difficulties with feeding, children do not get better, it was noted lag in motor development, until the year there were seizures (75%). 1. Children with mental retardation and psychosocial development predrechevogo require that genetic counseling in institutions. 2. Given the presence of specific clinical manifestations of the syndrome Angelman necessary to carry out the standard karyotyping, tool and accepted clinical methods of examination, consultation, specialists from related disciplines. 3. Given that 60–83% of cases of Angelman syndrome accounts for the chromosomal deletion in the critical region of chromosome 15 maternal origin, is necessary to conduct molecular cytogenetic studies, followed by genetic counseling.
Authors and Affiliations
G. Goncharenko, Yu. Duderina Duderina, V. Galagan, Sh. Kulbalaeva, V. Kurakova Kurakova
Keywords
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