ArticleEuropean journal of human genetics : EJHG2016
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.
Article in European journal of human genetics : EJHG, 2016. 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 34 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Interventions for childhood apraxia of speech.The Cochrane database of systematic reviews · 2018Pooled it
- Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.American journal of speech-language pathology · 2021Trial
- Developmental Convergence Across Diverse Genetic Architectures in Childhood Apraxia of Speech.bioRxiv : the preprint server for biology · 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
- 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
- The Cleveland Family Speech and Reading Study: A Review of Long-Term Outcomes Linking Phenotypes and Genotypes for Speech Sound Disorders.Journal of speech, language, and hearing research : JSLHR · 2025Article
- 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
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- Health supervision for children and adolescents with 16p11.2 deletion syndrome.Cold Spring Harbor molecular case studies · 2023Article
- Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.American journal of speech-language pathology · 2023Article
- Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.Molecular psychiatry · 2023Article
- Comorbidity and Severity in Childhood Apraxia of Speech: A Retrospective Chart Review.Journal of speech, language, and hearing research : JSLHR · 2023Article
- Review of methods for conducting speech research with minimally verbal individuals with autism spectrum disorder.Augmentative and alternative communication (Baltimore, Md. : 1985) · 2023Review
- Associations between rapid auditory processing of speech sounds and specific verbal communication skills in autism.Frontiers in psychology · 2023Article
- The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review.Journal of neurodevelopmental disorders · 2022Review
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- The Relationship Between Single-Word Speech Severity and Intelligibility in Childhood Apraxia of Speech.Journal of speech, language, and hearing research : JSLHR · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.