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.

Related Post

  • Posted on 26 June, 2025
    Pain is deeply personal, yet universally expressed through speech. But what if speech isn’t just a way we describe pain,...
    • Posted on 17 June, 2025
      A new study published in the European Journal of Human Genetics provides the first systematic analysis of speech and language...
      • Posted on 15 May, 2025
        MEDIA RELEASE MELBOURNE, VIC – A major collaborative paper published in Alzheimer’s & Dementia introduces a critical roadmap for the...