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Title: Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Authors: Morison L.D.;Kennis M.G.P.;Rots D.;Bouman A.;Kummeling J.;Palmer E.;Vogel A.P.;Liegeois F.;Brignell A.;Srivastava S.;Frazier Z.;Milnes D.;Goel H.;Amor D.J.;Scheffer I.E.;Kleefstra T.;Morgan A.T.
Monash Health Department(s): Paediatric - Developmental Paediatrics
Institution: (Morison, Amor, Morgan) Speech and Language, Murdoch Children's Research Institute, Parkville, VIC, Australia
(Morison, Vogel, Morgan) Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC, Australia
(Kennis, Bouman, Kummeling, Kleefstra) Department of Clinical Genetics, Radboudumc, Nijmegen, Netherlands
(Rots, Kleefstra) Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands
(Palmer) Sydney Children's Hospital Network, Randwick, NSW, Australia
(Palmer) Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia
(Vogel) MelbourneVICAustralia
(Liegeois) University College London, Great Ormond Street Institute of Child Health, London, United Kingdom
(Brignell) Department of Paediatrics, Monash University, Clayton, VIC, Australia
(Brignell) Department of Developmental Paediatrics, Monash Children's Hospital, Clayton, VIC, Australia
(Srivastava, Frazier) Department of Neurology, Boston Children's Hospital, Boston, MA, United States
(Milnes) Genetic Health Queensland, Herston, QLD, Australia
(Goel) Hunter Genetics, Waratah, NSW, Australia
(Amor) Department of Paediatrics, Royal Children's Hospital, Parkville, VIC, Australia
(Scheffer) Melbourne Brain Centre, Austin Health, Heidelberg, VIC, Australia
(Scheffer) The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia
Issue Date: 6-Feb-2024
Copyright year: 2024
Place of publication: United Kingdom
Publication information: Journal of medical genetics. (no pagination), 2024. Date of Publication: 30 Jan 2024.
Journal: Journal Of Medical Genetics
Abstract: OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD(S): 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULT(S): The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSION(S): 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.Copyright © Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
PubMed URL: 38290825 []
Type: Article
Subjects: cognition
intellectual impairment
language ability
nonverbal communication
speech disorder
Type of Clinical Study or Trial: Observational study (cohort, case-control, cross sectional, or survey)
Qualitative study
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