A newly identified mutation in the UBE3A gene that causes an inherited, severe form of Angelman syndrome was found in two sisters in China, scientists report. While UBE3A mutations are typically associated with milder forms of Angelman, these cases highlight a link between this new mutation and early-onset seizures,…
A comprehensive genetic test called whole-exome sequencing (WES) can identify potential rare and disease-causing mutations that would be missed by standard tests for Angelman syndrome, a case report on a 2-year-old girl in Indonesia highlights. The case study, “The role of whole exome sequencing in the…
A new low-cost molecular test can accurately distinguish people with Angelman syndrome from those without the disease and those with other chromosome 15 imprinting disorders, a study shows. While the test cannot identify about 10% of Angelman cases, these findings highlight the feasibility of using it in newborn screening…
A ketogenic diet safely and rapidly controlled treatment-resistant prolonged non-convulsive seizure activity in two girls with Angelman syndrome caused by a new mutation in the UBE3A gene, a study shows. These therapeutic benefits were observed before the detection of ketone bodies, the fat-derived molecules produced by the liver to…
Stronger brain wave abnormalities are significantly associated with more severe cognitive, motor, and communication symptoms and earlier seizure onset in children and adolescents with Angelman syndrome (AS), a study shows. These findings support brain activity abnormalities as a core Angelman feature, and they support the use of electroencephalography (EEG) as…
A reliable tool for parents or caregivers to judge the quality of nonverbal communication in Angelman syndrome patients is now available, according to the Foundation for Angelman Syndrome Therapeutics (FAST), which supported work that lead to its development. Called Observer-Reported Communication Ability (ORCA), the tool grew from a partnership between FAST and…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking in Angelman syndrome — partially or completely corrected physical and behavioral deficits in a mouse model of the disease. The effects of a single administration of the therapy, when delivered before birth, were…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Sleep disturbances in people with Angelman syndrome may be at least partly associated with iron deficiency, according to a small study in the U.S. The data also showed that supplementation with the mineral, which also is naturally present in many foods, improved the sleep quality of children…
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