Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant

Excerpt

Shankopathies are a spectrum of diseases associated with pathogenic genetic alterations in SHANK genes (SHANK1, SHANK2, SHANK3), which encode for structural proteins fundamental for synaptic formation and plasticity [1]. SHANK2 pathogenic variations and microdeletions have been associated with neurodevelopmental disorders (NDDs), including intellectual disability (ID), autism spectrum disorder (ASD), and language/speech difficulties. 14 patients have been reported so far in the literature [2], all of them showing a certain degree of language/speech delay or impairment. We hereby report the clinical picture of an additional patient with a novel SHANK2 variant whose linguistic phenotype has been characterized as severe Childhood Apraxia of Speech (CAS), a neurological childhood (pediatric) speech sound disorder in which the precision and consistency of movements underlying speech are impaired. The core impairment in planning and/or programming spatiotemporal parameters of movement sequences results in errors in speech sound production and prosody [3]. …