Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature

• Published in: European journal of human genetics : EJHG Vol. 31; no. 5; pp. 531 - 540
• Main Authors: St John, Miya, van Reyk, Olivia, Koolen, David A., de Vries, Bert B. A., Amor, David J., Morgan, Angela T.
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.05.2023; Springer International Publishing
• Subjects: Activities of Daily Living; Augmentative and alternative communication; Children; Cognitive ability; Communication; Emotional behavior; Female; Genotype & phenotype; Humans; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Language; Literacy; Phenotype; Phenotypes; Sleep disorders; Speech; Stuttering - diagnosis; Stuttering - genetics

Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here we define speech, language, and functional/adaptive behaviour in KdVS; while deeply characterising the medical/neurodevelopmental phenotype in the largest cohort to date....