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Article Abstract
Angelman syndrome is a rare genetic disorder with various phenotypes caused by the combination of genomic imprinting and loss of the maternal UBE3A gene. The case presentation involves a nine-month-old who continues with developmental delays after working with an early intervention therapist and was later diagnosed with Angelman syndrome following several specialty referrals and genetic testing. Currently, there is no cure for Angelman syndrome, only supportive symptomatic treatment. Angelman syndrome requires a multidisciplinary approach across providers who understand the complex care essential for these patients to thrive. The case study reviews the clinical presentation for early identification of infants with Angelman Syndrome, the diagnostic criteria, symptomatic management, family resources, implications for the primary care provider, and promising future therapies.
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| http://dx.doi.org/10.1016/j.pedhc.2025.06.005 | DOI Listing |
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