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Título

ANGELMAN SYNDROME: THE SEARCH FOR BRAIN KNOWLEDGE

Resumo

INTRODUCTION: Angelman Syndrome (AS) is a neurodevelopmental disorder, considered incurable, characterized by ataxia, intellectual disability, speech impairment, seizures, autistic behavior, hyperactivity and happy behavior, caused by the loss of function of the UBE3A maternally inherited region of the chromosome 15q11-13 and diagnosis is usually made between 1 and 4 years of age. For a consensus criterion for diagnosing AS, the clinical features of individuals are divided by their percentage of frequencies in the syndrome: consistent features, frequent features, associated features. OBJECTIVE: To carry out a survey of current research on the definition of the profile of cases related to Angelman syndrome. METHODS: This is a bibliographic review study, extracted from the PUBMED and The Febs Journal database, using an understanding of the brain areas affected in AS. RESULTS: Identified by noted physicians and researchers, Angelman Syndrome is understood to be caused by the loss of the maternal copy of the UBE3A gene in the region of chromosome 15q11-13. To diagnose AS, the clinical characteristics of individuals are divided into percentage of frequencies in the syndrome. As consistent features (100%), all patients with AS have ataxia, functionally severe developmental delay, frequent laughter/smiling associated with hypermotor behavior, and speech impairment with no or minimal use of words, but greater use of non-verbal communication. In the frequent features, 80% of AS cases show a small head circumference associated with microcephaly, electroencephalogram abnormalities, and frequent and severe seizures during childhood that decrease with age but may persist into adulthood. Associated features in 20 to 80% of patients with AS include obesity, scoliosis, constipation, abnormal sleep cycles, wide mouth, squint, hypopigmented skin, attraction to water, and many others. Not all features need to be present for a diagnosis of AS, but it is mandatory that patients exhibit the four consistent features. CONCLUSION: It is believed that understanding about AS in the brain will only be achieved with a faithful recapitulation of brain development processes in emerging 3D models.