Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. 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.

In this study, Redenlab partnered with team building evidence for measuring and describing communication in rare paediatric diseases.

For more details on the study, click here.

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