News

The close relationship between synaptic maturation and sleep may be the reason why many children with neurodevelopmental disorders (NDDs), including Angelman syndrome, experience sleep problems, a review study has found. The study, “Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders,” was published in the…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

A clinical study has began to enroll patients with Angelman syndrome to explore the safety and tolerability of a nutritional formula supplemented with ketones for use in dietary interventions. This study is being conducted by Disruptive Nutrition, the keto-medical foods company subsidiary of Disruptive Enterprises, in collaboration with researchers…

Nonverbal patients with Angelman syndrome do not necessarily differentiate between known names — their own or those of others close to them — and unfamiliar names, as assessed through measurements of brain responses, a study suggests. The study, “Social–emotional processing in nonverbal individuals with Angelman syndrome:…

Coffin-Siris syndrome (CSS) should be included in the differential diagnosis of Angelman syndrome, say researchers, after describing the case of a 14-year-old boy who harbored a genetic mutation associated with CSS and experienced typical symptoms of Angelman syndrome. The findings were reported in the study, “Identification…

Nonverbal Angelman syndrome patients can learn new information by exposure to repeated auditory stimuli, a new study shows. Measuring brain electrical activity can help evaluate patients’ auditory learning and memory capacity. The study, “Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman…

With the addition of clinics in Canada and Israel, the Angelman Syndrome Foundation (ASF) now has an international network of Angelman Syndrome Clinics staffed with Angelman syndrome (AS) experts. The Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Canada, and the Edmond and Lily Safra…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

A significant proportion of mothers of children with rare genetic syndromes, such as Angelman syndrome, experience levels of stress similar to those reported by mothers of children with autism — a group that has been previously identified as at high risk for mental health difficulties, a study shows. The study,…