ArticleAnnals of rehabilitation medicine2019
Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development.
Article in Annals of rehabilitation medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- ComplexFrontiers in pediatrics · 2026Article
- Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.Scientific reports · 2024Article
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders-an important consideration for resource-constrained settings.Frontiers in genetics · 2023Review
- CNV profiles of Chinese pediatric patients with developmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveTo determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development.
methodsA retrospective chart review was done for 65 children who underwent array-comparative genomic hybridization after visiting physical medicine & rehabilitation department of outpatient clinic with delayed development as chief complaints. Children were evaluated with Denver Developmental Screening Test II (DDST-II), Sequenced Language Scale for Infants (SELSI), or Preschool Receptive-Expressive Language Scale (PRES). A Mann-Whitney U test was conducted to determine statistical differences of developmental quotient (DQ), receptive language quotient (RLQ), and expressive language quotient (ELQ) between children with CNV (CNV(+) group, n=16) and children without CNV (CNV(-) group, n=37).
resultsOf these subjects, the average age was 35.1 months (mean age, 35.1±24.2 months). Sixteen (30.2%) patients had copy number variations. In the CNV(+) group, 14 children underwent DDST-II. In the CNV(-) group, 29 children underwent DDSTII. Among variables, gross motor scale was significantly (p=0.038) lower in the CNV(+) group compared with the CNV(-) group. In the CNV(+) group, 5 children underwent either SELSI or PRES. In the CNV(-) group, 27 children underwent above language assessment examination. Both RLQ and ELQ were similar between the two groups.
conclusionThe gross motor domain in DQ was significantly lower in children with CNV compared to that in children without CNV. This result suggests that additional genetic factors contribute to this variability. Active detection of genomic imbalance could play a vital role when prominent gross motor delay is presented in children with delayed development.
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