Morison, Lottie D;
Kennis, Milou GP;
Rots, Dmitrijs;
Bouman, Arianne;
Kummeling, Joost;
Palmer, Elizabeth;
Vogel, Adam P;
... Morgan, Angela T; + view all
(2024)
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Journal of Medical Genetics
10.1136/jmg-2023-109702.
(In press).
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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: 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. RESULTS: 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. CONCLUSIONS: 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.
| Type: | Article |
|---|---|
| Title: | Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/jmg-2023-109702 |
| Publisher version: | http://dx.doi.org/10.1136/jmg-2023-109702 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | CHILDREN, COMMUNICATION, Genetics & Heredity, Genetics, Behavioral, Human Genetics, Life Sciences & Biomedicine, Neurology, Pediatrics, Phenotype, SCALE, Science & Technology, SLEEP |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10189987 |
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