Abstract

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.

Highlights

  • Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by typical facial features, postnatal microcephaly, severe developmental delay with lack of speech, movement disorders, characteristic behavioral features, a high prevalence of epilepsy, and sleeping and feeding problems

  • Children were diagnosed with combinations of methylation sensitive digestion, methylation-specific PCR (MS-PCR), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), microsatellite marker analysis (MSA), fluorescent in situ hybridization (FISH), MLPA analysis of copy number, Comparative Genomic Hybridization (CGH)- or Single Nucleotide Polymorphism (SNP)-array or single UBE3A gene sequencing

  • A standardized medical history was taken including a parental questionnaire on epilepsy, sleep pattern, milestones, development, behavior, nutrition, gastro-esophageal reflux (GER), defecation pattern, and a physical exam including growth parameters was performed at every visit

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Summary

Introduction

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by typical facial features, postnatal microcephaly, severe developmental delay with lack of speech, movement disorders, characteristic behavioral features, a high prevalence of epilepsy, and sleeping and feeding problems. These features are part of the Category A (100%), B (>80%), and C (20–80%) clinical criteria for AS (Williams et al, 2006). Up until 2017, 100 children have visited the Expertise Center for AS at least once

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