Anxiety and repetitive behaviors are significant predictors of sleep problems among children and adolescents with Angelman syndrome, according to a new study using global registry data. Language and communication difficulties and challenging behaviors also were linked to sleep problems in these patients. “Future research needs to replicate this research…
Among the many sleeping problems facing children with Angelman syndrome, insomnia and the circadian rhythm disturbances that fracture sleep are the most frequent and troublesome, according to a survey of parents and caregivers. Sleep disturbances affect a child’s behavior at home and school, the adults noted, while depriving parents…
Despite having few signs and symptoms of Angelman syndrome (AS), an infant boy was eventually diagnosed by genetic testing as a result of his nonspecific developmental delays and unexplained low muscle tone, according to a case study. “This report is a good example for giving clinicians a lower threshold…
A 9-month-old boy was diagnosed with Angelman syndrome alongside two genetically inherited diseases affecting the skin and hearing, a case study reported. According to researchers, this is the first case of Angelman reported with epidermolysis bullosa (EB), a rare disorder characterized by fragile skin that easily blisters and…
Linoleic acid, a fatty acid commonly found in seed oils, eased movement and balance problems in a mouse model of Angelman syndrome (AS), a study reported. AS mice fed a diet enriched with linoleic acid were found to have enhanced activity of PIEZO2, a protein channel found in nerve…
Because antisense oligonucleotide (ASO) therapies target specific genetic sequences, differences across mammals make it challenging to translate potential Angelman ASO-based therapies from preclinical models to the clinic. GTX-102, an investigational ASO therapy for Angelman syndrome, was specifically designed to be effective in patients and relevant animal models, however.
Certain structures within the brains of children with Angelman syndrome were altered compared with unaffected children of the same age, an MRI study concluded. Imaging found a thinner and more folded outer cortex layer and reduced gray matter volume within the inner subcortex region in Angelman children. More serious…
A novel treatment approach based on zinc-finger DNA-binding proteins, designed to activate the silenced paternal UBE3A gene, successfully eased the signs and symptoms of Angelman syndrome in a mouse model. The strategy also demonstrated efficacy in brain cells derived from an Angelman patient, showing that it can be translated…
The Foundation for Angelman Syndrome Therapeutics (FAST) has given a gift of $5 million to establish the Rush F.A.S.T. Center for Translational Research, intending to train physicians to run clinical trials and deliver therapies requiring specialized delivery and care. Reported to be the first-of-its-kind, the center will be directed…
Behavioral assessments by parents of children with Angelman syndrome and other genetic neurodevelopmental disorders substantially differed from those reported by clinicians, a study revealed. Appraisal of hyperactivity showed the highest agreement between parents and professionals, whereas self-injury behaviors showed the poorest agreement. These findings have implications for clinical trials,…
Get regular updates to your inbox.