Joana Carvalho, PhD, managing science editor —

Anxiety, especially separation distress, is very common among older children with Angelman syndrome and should be taken into consideration by doctors to improve both their quality of life and that of their family members, a study says. Findings of the study “Anxiety-associated and separation distress-associated behaviours in…

Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman syndrome and cholesterol side-chain cleavage enzyme (P450scc) deficiency, by finding both have a common genetic origin. Their case report, “Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to…

Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and Prader-Willi syndrome. Their study, “A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients,” was published in Molecular Genetics &…

For the first time, the occurrence of germline mosaicism — a phenomenon in which a mutation is present only in a progenitors’ sperm or eggs and is passed on to an individual from otherwise healthy parents — has been associated with Angelman syndrome in two Chinese siblings, researchers…

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…

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…

Short-term treatment with Neuralstem‘s NSI-189 reversed cognitive and motor impairments in a mouse model of Angelman syndrome, according to study results. This early finding could help to pave the way for this compound, in Phase 2 study for major depressive disorder and seen in an earlier trial to be safe in…

Epileptic seizures caused by disturbances in the activity of a specific type of nerve cell called an inhibitory neuron were prevented by the reactivation of the UBE3A gene in young mice with Angelman syndrome features, a study shows. The study, “Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice,” was published in…

Researchers from the University of North Carolina have found that ubiquitin protein ligase E3A — the malfunction of which is behind Angelman syndrome development — is present in different types of neurons from the cerebral cortex, where it likely exerts its function. According to the authors, this could be one of…

Researchers from Harvard Medical School have discovered that a genetic mutation in the UBE3A gene found in Angelman syndrome patients prevents an enzyme called ubiquitin ligase E3A from interacting with one of its major binding partners, the proteasome, contributing to disease symptoms. The study, “Angelman syndrome-associated point mutations…