ArticleJournal of medical genetics2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Article in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Unraveling the Genotype-Phenotype Landscape of Kleefstra Syndrome ThroughNeurology. Genetics · 2026Article
- The interactions between sleep difficulties and clinical features in children with rare genetic syndromes: a structural equation modelling approach.BMC pediatrics · 2026Article
- Childhood motor speech disorders: who to prioritise for genetic testing.European journal of human genetics : EJHG · 2026Article
- The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Genes · 2026Article
- Understanding speech and language in KIF1A-associated neurological disorder.European journal of human genetics : EJHG · 2026Article
- Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.Orphanet journal of rare diseases · 2025Article
- Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.Clinical genetics · 2025Article
- Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.Sensors (Basel, Switzerland) · 2025Review
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.American journal of human genetics · 2024Article
- Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.American journal of human genetics · 2024Article
- Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.Sage open pediatricsArticle
Corrections and comments
- Erratum issued
Authors and funding
17 authors.
Funding
Abstract
objectivesSpeech 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.
method103 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.
resultsThe 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.
conclusionsThe 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.
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