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Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads to a violation of the expression of the UBE3A gene.Purpose. To analyze clinical manifestations in children with Angelman syndrome to identify early-onset and characteristic clinical signs.Characteristics of children and research methods. The study included 60 children. In all cases, Angelman syndrome was diagnosed on the basis of international clinical criteria and the results of genetic testing. The researchers used clinical, functional and molecular genetic research methods.Results. 80-100% of children demonstrated delayed mental and motor development, lack of speech, affective behavior, ataxia, hand stereotypes, apraxia of hand movements, strabismus, sialorrhea. 72% of children had epileptic seizures; all patients (regardless of the presence / absence of epilepsy) had a pattern characteristic of Angelman syndrome on the electroencephalogram. Differential diagnosis was based on the gene / chromosomal syndromes characterized by similar clinical signs.Conclusion. The combination of such most frequent, early clinical symptoms as difficulties in feeding, strabismus, impaired muscle tone, delayed motor and psycho-speech development, affective behavior with frequent laughter, and sleep disorders may indicate Angelman syndrome in a child.

Angleman syndrome (АS) – is a chromosomal syndrome, which is manifested through atypical autism with feeble minding, epilepsy, outrage of the speech development, movement disorders, ataxia, as well as special (happy) behavior of patients, combined with outbursts of laugh. The disease is caused by the mutation of 15q11.2–13 maternal locus or by the gene of UBE3A ubiquitinated complex. Such genes regulate the functional activity of hippocampus neurons, of olfactory bulbs, of the parastriate cortex, of the tentorium. We demonstrate the atypical AS case, which clinical presentation developed after acute respiratory viral infection with febrile temperature. The disease started with episodes of acute ataxia, interrupting daily activities of the child. Step by step the speech development was regressing – several words have fallen out,leaving the space for babbling sounds. Also appeared stereotypic movements of upper extremities (bending of arms in elbow joints, its retraction and joggling of hands), unmotivated laugh. Due to the nonrelevant starting presentation in the acute period following conditions were differentially diagnosed: 1) opsoclonus-myoclonus syndrome; 2) cerebral circulation diseases; 3) epilepsy with absences and atonic attacks; 4) paroxysmal dyskenisias and ataxias; 5) start of the neurodegenerative disease; 6) early childhood autism. Results of laboratory research allowed to exclude opsoclonus-myoclonus, the magnetic and resonance tomography and vessels research allowed to exclude the cerebrovascular pathology. Changes, revealed in the course of the videoelectroencephalographic monitoring, as well as anamnesis data (clinical symptoms after fever) allowed to narrow the diagnostic search; AS suspected. Provided the combination of ataxia with movement disorders, it was decided to carry out not molecular & genetic, but also micromatrix analysis, in order to exclude the channelopathy, as well as other genetic reasons. The method of polymerase chain reaction did not reveal changes, typical for AS. Anyway, the micromatrix analysis has revealed that the molecular karyotype has got spots with lost heterozygosis of locuses, containing genes, referred to the imprinting phenomena (UBE3A). In such a way, AS was confirmed.

The paper presents the current understanding of the mechanisms of genetic changes in Angelman syndrome. This article contains the data on the prevalence and the risk of inheritance of different genetic defects in patients with Angelman syndrome. Pathogenetic basis for the development of the main clinical manifestations of Angelman syndrome: seizures, cognitive deficit, behavioral disorders, imbalance in wakefulness and sleep hours, trophic disorders — are described. It is shown that changes in Arc gene expression are associated not only with Angelman syndrome but also with some other dise­ases., В статье приведены современные представления о механизмах генетических изменений при синдроме Ангельмана. Статья содержит данные о частоте встречаемости и риске наследования различных генетических дефектов у больных с синдромом Ангельмана. Представлены патогенетические основы развития основных клинических проявлений синдрома Ангельмана: судорожного синдрома, когнитивного дефицита, расстройств поведения, нарушения баланса времени бодрствования и сна, трофических нарушений. Показано, что изменения экспрессии гена Arc не только ассоциированы с синдромом Ангельмана, но и сопровождают некоторые другие заболевания., У статті наведені сучасні уявлення про механізми генетичних змін при синдромі Ангельмана. Стаття містить дані про частоту зустрічальності та ризику успадкування різних генетичних дефектів у хворих із синдромом Ангельмана. Представлено патогенетичні основи розвитку основних клінічних проявів синдрому Ангельмана: судомного синдрому, когнітивного дефіциту, розладів поведінки, порушення балансу часу бадьорості та сну, трофічних порушень. Показано, що зміни експресії гена Arc не тільки асоційовані із синдромом Ангельмана, але й супроводжують і деякі інші захворювання.

Статья посвящена проблеме дифференциальной диагностики и лечения больных с синдромом Ангельмана (AS). Представлены наиболее часто встречающиеся синдромы, имеющие сходные с AS фенотипические проявления, приведены основные дифференциальные отличия AS-подобных синдромов с указанием причинно-значимого гена. Большое внимание уделено основным направлениям лечения больных с синдромом Ангельмана: организации режима, посиндромной терапии, оказанию психологической, логопедической, ортопедической помощи, трудотерапии, мероприятиям, направленным на социальную адаптацию. Статья содержит новейшую информацию о современных прогрессивных направлениях медикаментозного управления AS. Для оптимизации диагностического и терапевтического процессов приведены данные о международных фондах синдрома Ангельмана., The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS). It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the causative gene. Much attention is given to the basic directions of treating patients with Angelman syndrome: organization of regime, syndromic treatment, providing psychological, speech therapy, orthopedic services, occupational therapy, activities aimed at social adaptation. This article contains the latest information about modern progressive directions of AS medical management. To optimize the diagnostic and therapeutic process, data about international Angelman syndrome foundations are shown.

В статье приведены современные представления о механизмах генетических изменений при синдроме Ангельмана. Статья содержит данные о частоте встречаемости и риске наследования различных генетических дефектов у больных с синдромом Ангельмана. Представлены патогенетические основы развития основных клинических проявлений синдрома Ангельмана: судорожного синдрома, когнитивного дефицита, расстройств поведения, нарушения баланса времени бодрствования и сна, трофических нарушений. Показано, что изменения экспрессии гена Arc не только ассоциированы с синдромом Ангельмана, но и сопровождают некоторые другие заболевания., The paper presents the current understanding of the mechanisms of genetic changes in Angelman syndrome. This article contains the data on the prevalence and the risk of inheritance of different genetic defects in patients with Angelman syndrome. Pathogenetic basis for the development of the main clinical manifestations of Angelman syndrome: seizures, cognitive deficit, behavioral disorders, imbalance in wakefulness and sleep hours, trophic disorders are described. It is shown that changes in Arc gene expression are associated not only with Angelman syndrome but also with some other diseases.