Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers’ survey [PDF]
Orphanet Journal of Rare DiseasesBackground Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by severe intellectual disability, seizures, and motor and speech impairments, requiring lifelong, intensive care.
Dariusz Walkowiak +4 more
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Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis)
Zdorovʹe Rebenka, 2015 The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome.
O.Ye. Abaturov +2 more
doaj +2 more sources
, 2013 Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy.
Edwin J. Weeber
openaire +3 more sources
Stem Cell Research, 2022 Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons.
Carina Maranga +7 more
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Evaluating different scoring algorithms to assess communication ability for individuals living with Angelman syndrome: the Observer-Reported Communication Ability (ORCA) measure [PDF]
Journal of Patient-Reported OutcomesBackground Many neurodevelopmental disorders are associated with significantly impaired communication that impacts the individuals and their families’ daily activities.
Bryce B. Reeve +7 more
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Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases [PDF]
Case Reports in Genetics, 2016 Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative.
Ho-Ming Luk
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Uncovering a Role for SK2 in Angelman Syndrome
Cell Reports, 2015 Angelman syndrome is a severe neurodevelopmental disorder caused by mutations in UBE3A. Sun et al. (2015) report SK2 as a UBE3A substrate and provide insight into the molecular mechanisms that might underlie impaired neuronal function in individuals ...
Sofia B. Lizarraga, Eric M. Morrow
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Periodic and aperiodic contributions to EEG delta power are translatable and complementary Angelman syndrome biomarkers [PDF]
Communications MedicineBackground: Angelman syndrome is a neurodevelopmental disorder caused by loss of maternal UBE3A expression. With promising therapies now in clinical trials, there is a pressing need for reliable and translatable biomarkers.
Daniel P. Montgomery +4 more
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Crossing the finish line towards a disease-modifying treatment for Angelman syndrome [PDF]
Journal of Neurodevelopmental DisordersRecent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise ...
Matthew C. Judson +15 more
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Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment)
Zdorovʹe Rebenka, 2015 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 ...
O.Ye. Abaturov +2 more
doaj +2 more sources