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Angelman Syndrome Neurocognitive and Linguistic Profile, Overlaps, Interventions, and Quality of Life
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Author(s): Dimitra V. Katsarou (University of the Aegean, Greece), Maria Theodoratou (Neapolis University, Paphos, Cyprus), Maria Sofologi (University of Ioannina, Greece), Georgios A. Kougioumtzis (National and Kapodistrian University of Athens, Greece), Efthymia Efthymiou (Zayed University, UAE), Alexandros Argyriadis (Frederick University, Cyprus), Asterios Patsiaouras (University of Thessaly, Greece), Evangelos Mantsos (University of Thessaly, Greece), Agathi Argyriadi (Frederick University, Cyprus)and Soultana Papadopoulou (University of Ioannina, Greece)
Copyright: 2025
Pages: 14
Source title:
Clinical Applications of Pediatric Neuropsychology from Infancy to Adolescence
Source Author(s)/Editor(s): Kalliopi Megari (City College, University of York, Greece)
DOI: 10.4018/979-8-3693-9689-6.ch007
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Abstract
Angelman Syndrome (AS) is a rare neurogenetic disorder caused by a mutation or deletion of the UBE3A gene on chromosome 15, affecting the brain's development and function. Neurocognitively, individuals with AS often exhibit significant developmental delays, with limited cognitive abilities, impaired motor coordination (ataxia), and epilepsy being common. While cognitive impairment is a hallmark of the syndrome, memory and problem-solving abilities are also significantly affected. Linguistically, AS is characterized by profound speech impairments, with most individuals developing little to no functional speech. Early diagnosis, often through genetic testing, is crucial for the implementation of early intervention programs that focus on speech therapy, physical therapy, and behavioral management. Specialized interventions that address motor deficits, language development, and behavioral concerns can enhance cognitive and social functioning, although the overall prognosis remains one of lifelong disability.
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