ArticleEuropean journal of human genetics : EJHG2018
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Interventions for childhood apraxia of speech.The Cochrane database of systematic reviews · 2018Pooled it
- Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.Molecular autism · 2025Trial
- Developmental stuttering with common and complex phenotypes.Developmental medicine and child neurology · 2026Article
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.European journal of human genetics : EJHG · 2026Article
- Childhood motor speech disorders: who to prioritise for genetic testing.European journal of human genetics : EJHG · 2026Article
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.Case reports in genetics · 2026Article
- Understanding speech and language in KIF1A-associated neurological disorder.European journal of human genetics : EJHG · 2026Article
- Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.Molecular autism · 2025Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion.Journal of neurodevelopmental disorders · 2025Article
- Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The clinical and genetic spectrum of paediatric speech and language disorders.Brain : a journal of neurology · 2025Article
- Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.Molecular psychiatry · 2025Article
- Early trajectories and moderators of autistic language profiles: A longitudinal study in preschoolers.Autism : the international journal of research and practice · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.Journal of speech, language, and hearing research : JSLHR · 2024Article
- Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.European journal of human genetics : EJHG · 2024Article
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
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9 authors.
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Abstract
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, speech production, language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and language profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.
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