Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Lottie D MorisonMilou G P KennisDmitrijs RotsArianne BoumanJoost KummelingElizabeth PalmerAdam P VogelFrederique LiegeoisAmanda BrignellSiddharth SrivastavaZoe FrazierDi MilnesHimanshu GoelDavid J AmorIngrid E SchefferTjitske KleefstraAngela T MorganPublished in: Journal of medical genetics (2024)
The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.