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Angelman syndrome in adulthood [PDF]
American Journal of Medical Genetics, 1996 We studied the clinical and EEG-findings in 28 adult patients (aged 20-53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11-13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings.
Laan, L. van der +4 more
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Communication in Angelman syndrome [PDF]
, 2019 The absence of speech in Angelman syndrome is striking and widely recognised by those familiar with the syndrome but the specificity of communicative impairment is not well documented.
Pearson, Effie
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Genetics of Angelman Syndrome [PDF]
The American Journal of Human Genetics, 1999 We apologize to the many authors whose primary data could not be cited because of limitations of space. We thank Grace Watson for great assistance in preparation of the manuscript. This work is supported by NIH grant HD 37283.
Jiang, Yong-hui +4 more
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Neurosciences, 2004 Angelman syndrome is characterized by severe mental retardation, absence of speech, bursts of laughter, ataxia, seizure disorder and facial dysmorphism. This report describes the first 3 children with Angelman syndrome from Bahrain. The diagnosis was based on clinical features and confirmed by the presence of microdeletion of 15q11q13 using ...
Fatima N, Mahmood +2 more
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Revista Brasileira de Anestesiologia, 2016 INTRODUCTION: Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor.
Magda Lourenço Fernandes +2 more
doaj +3 more sources
Age of diagnosis for children with chromosome 15q syndromes
Journal of Neurodevelopmental Disorders, 2023 Objective The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome ...
Anne C. Wheeler +6 more
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Epilepsy in Angelman syndrome [PDF]
Seizure, 2008 Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In addition to severe developmental delay, virtual absence of speech, motor impairment, a behavioural phenotype that includes happy demeanor, and distinctive rhythmic ...
Pelc, Karine +3 more
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Frontiers in Genetics, 2021 Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are etiologically heterogeneous. Chromosomal microarray is now recommended as the first-tier clinical diagnostic test for ASD.
Areerat Hnoonual +5 more
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Angelman syndrome: review of clinical and molecular aspects [PDF]
, 2014 Lynne M Bird1Department of Pediatrics, University of California, Division of Genetics, Rady Children’s Hospital, San Diego, California, USAAbstract: “Angelman syndrome” (AS) is a neurodevelopmental disorder whose main features are ...
Bird, Lynne M, Bird, Lynne M,, Bird LM
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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Orphanet Journal of Rare Diseases, 2017 Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition.
Kathryn R. Napier +6 more
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