Neurocognitive follow ‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

ConclusionThe long-term observations are sparse in PMD andSHANK3 mutations. This is the neurocognitive follow-up from childhood to middle ages, where a sharp neurocognitive decline was observed. We conclude that progressive neuropsychiatric symptoms in adolescence are a universal clinical clue for PMD diagnosis and an underlyingSHANK3 splicing site mutation.

Source: Molecular Genetics & Genomic Medicine - August 10, 2021 Category: Genetics & Stem Cells Authors: Minna Kankuri ‐Tammilehto, Oili Sauna‐aho, Maria Arvio Tags: ORIGINAL ARTICLE Source Type: research