Angelman syndrome is characterized by mental retardation, seizures, ataxia, inappropriate laughter, lack of speech, a particular facial appearance, and generally a chromosome 15q11-q13 deletion. Recently, a fascination with water and water-related activities has been reported in individuals with the syndrome. We report on a 9.6-year-old male previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. This case further illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. We wish to alert careproviders that this fascination with water and water-related activities may contribute to death and that these individuals should be closely supervised when in the presence of water.
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http://dx.doi.org/10.1352/0895-8017(2002)107<0069:DAACOD>2.0.CO;2 | DOI Listing |
J Mol Diagn
January 2025
Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. Electronic address:
Current clinical testing approaches for individuals with suspected imprinting disorders are complex, often requiring multiple tests performed in a stepwise fashion to make a precise molecular diagnosis. We investigated whether whole-genome long-read sequencing (LRS) could be used as a single data source to simultaneously evaluate copy number variants (CNVs), single nucleotide variants (SNVs), structural variants (SVs), and differences in methylation in a cohort of individuals known to have either Prader-Willi or Angelman syndrome. We evaluated 25 individuals sequenced to an average depth of coverage of 36x on an Oxford Nanopore PromethION.
View Article and Find Full Text PDFJ Biol Chem
December 2024
Department of Molecular Biology and Biophysics, UCONN Health, Farmington, CT 06032, USA. Electronic address:
Sci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Critical Care, North West Anglia NHS Foundation Trust, Peterborough, UK.
We present a case of hyperkaliaemic cardiac arrest in a patient with Angelman's syndrome after administration of suxamethonium in rapid sequence intubation. The patient was admitted to the critical care unit in with aspiration pneumonia and intestinal obstruction. They had a cardiac arrest after suxamethonium administration.
View Article and Find Full Text PDFMol Autism
December 2024
Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.
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