GeneReviews: Koolen-de Vries Syndrome

Clinical characteristics. Koolen-de Vries syndrome (KdVS) is characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with…

Motor speech and non-motor language endophenotypes of Parkinson’s disease

Article highlights

  • Dysarthria, a neuromuscular speech disorder, can be the first and most prominent manifestation of PD.

  • Alongside changes in speech, PD is associated with impaired morphosyntactic, lexical-semantic, and high-level language comprehension and production.

  • Pharmaceutical and surgical interventions for PD may improve certain modalities of speech production, but effects vary between individuals.

  • Longitudinal research designs are needed to evaluate the complex interplay between motor speech, language, and cognition.

  • Speech acoustics may serve as a valuable proxy marker of PD ‘risk’, disease progression and treatment efficacy.