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An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Author(s) -
Bindelsde Heus Karen G. C. B.,
Mous Sabine E.,
HoovenRadstaake Maartje,
IperenKolk Bianca M.,
Navis Cindy,
Rietman André B.,
Hoopen Leontine W.,
Brooks Alice S.,
Elgersma Ype,
Moll Henriëtte A.,
Wit MarieClaire Y.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61382
Subject(s) - microcephaly , psychomotor learning , angelman syndrome , pediatrics , medicine , cohort , epilepsy , quality of life (healthcare) , intervention (counseling) , prospective cohort study , psychiatry , psychology , genetics , biology , cognition , nursing , gene
This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS, to evaluate the association of the phenotype with genotype and other determinants such as epilepsy and to get insight in possible targets for intervention. We confirmed the presence of a more severe phenotype in the 15q11.2‐q13 deletion subtype. Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive status epilepticus, a high rate of crouch gait in the older children with risk of deterioration of mobility, a relatively low occurrence of microcephaly, a higher mean weight for height in all genetic subtypes with a significant higher mean in the nondeletion children, and a high occurrence of hyperphagia across all genetic subtypes. Natural history data are needed to design future trials. With this large clinical cohort with structured prospective and multidisciplinary follow‐up, we provide unbiased data on AS to support further intervention studies to optimize outcome and quality of life of children with AS and their family.