ArticleJournal of autism and developmental disorders2018
Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.
Article in Journal of autism and developmental disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.Molecular genetics & genomic medicine · 2018Trial
- Breaking with the Criteria; Selective Mutism and its Forbidden Connection with Autism.Research on child and adolescent psychopathology · 2026Article
- Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype.Frontiers in genetics · 2026Article
- Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders.Molecular psychiatry · 2025Article
- Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.The Journal of clinical investigation · 2024Article
- Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.International journal of molecular sciences · 2023Review
- Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.Clinical linguistics & phonetics · 2023Article
- Translational Study of Copy Number Variations in Schizophrenia.International journal of molecular sciences · 2021Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021Review
- Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.Orphanet journal of rare diseases · 2021Article
- 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.Brain sciences · 2020Article
- Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.Translational psychiatry · 2020Article
- Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.Human molecular genetics · 2019Article
- Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.Molecular autism · 2019Article
- Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language.Journal of autism and developmental disorders · 2018Article
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Authors and funding
2 authors.
Funding
Abstract
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.
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