Jimmy Holder

TL;DR: It is reported that Shank3 transgenic mice modelling a human SHANK3 duplication exhibit manic-like behaviour and seizures consistent with synaptic excitatory/inhibitory imbalance, and the mood-stabilizing drug valproate, but not lithium, rescues the manic- like behaviour of Shank3transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.

TL;DR: It is concluded that SynGAP protein retains biological functions throughout adulthood and that non-developmental functions may contribute to disease phenotypes, and treatments that target debilitating aspects of severe NDDs, such as medically-refractory seizures and cognitive impairment, may be effective in adult patients.

TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.

TL;DR: The most common intrauterine phenotypes of WHS were severe IUGR and typical facial appearance with other less consistent ultrasound findings and noninvasive prenatal testing (NIPT) is one very promising screening tool for WHS.

TL;DR: Sleep disturbances are a significant phenotype in the synaptopathies PMD and SYNGAP1-ID and improved sleep is a viable clinical endpoint for future clinical trials for these neurodevelopmental disorders.