Screening patients with Angelman syndrome and other neurodevelopemental disorders for sleep disturbances can enable multidisciplinary management, and diagnosing and treating these problems may improve patient quality of life, a review that looked at eight neurogenetic diseases reported. The study, “Sleep Disorders in Childhood Neurogenetic Disorders,” was recently published…
A new mutation in the UBE3A gene, which was linked to a more mild form of Angelman syndrome, was found in three children from two unrelated families, according to a case report. The study, “Two Angelman families with unusually advanced neurodevelopment carry a start codon…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
Specific differences in the gait of children with Angelman syndrome may be used as a tool for disease assessment and to evaluate the effects of experimental treatments, according to a recent study. The study, “Identification of spatiotemporal gait parameters and pressure-related characteristics in…
The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
Over the past 40 years, a clear majority — 55 to 73 percent — of students with intellectual disabilities spend most or all of their school day separated from peers without disabilities, in self-contained classrooms or schools, despite the requirements of the Individuals with Disabilities Education Act (IDEA). This finding was…
The protocol used by Australian researchers to create the Global Angelman Syndrome Registry, the first worldwide patient registry dedicated to Angelman syndrome (AS), has been published. Preliminary results are included in the study, providing a characterization of the more than 450 people taking part so far. More…
Three novel brain electrical signal patterns have been found in children with Angelman syndrome, which might serve as biomarkers in the assessment of future therapies, researchers report. Electroencephalography (EEG) is a method used to detect electrical signals produced by the brain when brain cells communicate. The pattern of these signals…
A new technique based on video-recorded behavior analysis can help assess communication ability in children with Angelman syndrome and may be used in future clinical studies of experimental therapies, according to researchers. Their study, “Quantitative Measurement of Communication Ability in Children with Angelman Syndrome,” was published in…
Children and teenagers with Angelman syndrome have particularly high rates of incontinence, especially if they also suffer from adaptive disabilities and epilepsy, a study reports. The study, “Incontinence in persons with Angelman syndrome,” published in the European Journal of Pediatrics, investigated the rate of incontinence and associated psychological…
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