Ann Rehabil Med.  2019 Apr;43(2):215-223. 10.5535/arm.2019.43.2.215.

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development

Affiliations
  • 1Department of Rehabilitation Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea. drpjh@catholic.ac.kr
  • 2Department of Rehabilitation Medicine, St. Paul's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 3Department of Laboratory Medicine College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 4Department of Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Abstract


OBJECTIVE
To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development.
METHODS
A 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).
RESULTS
Of 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 DDST-II. 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.
CONCLUSION
The 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.

Keyword

Developmental disabilities; DNA copy number variations; Array-based comparative genomic hybridization; Motor skills; Hypotonia

MeSH Terms

Ambulatory Care Facilities
Child*
Comparative Genomic Hybridization
Developmental Disabilities
DNA Copy Number Variations
Humans
Infant
Mass Screening
Motor Skills
Muscle Hypotonia
Nucleic Acid Hybridization
Physical and Rehabilitation Medicine
Rehabilitation
Retrospective Studies

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