| 제목 |
The Development Aspect of Children with Delayed Development between Patients with or without CNVs |
| 소속 |
The Catholic University of Korea Seoul St. Mary`s Hospital , Department of Rehabilitation Medicine1, The Catholic University of Korea Seoul St. Mary`s Hospital , Department of Laboratory Medicine2 |
| 저자 |
Kee Boem Park1*, Kyung Eun Nam1, Joo Hyun Park 1†, Woo Ri Jang2, Myung Shin Kim2 |
Introduction
Microarray-based comparative genomic hybridization (array CGH) has been widely adopted as a valuable clinical diagnostic test for children with delayed development. Bradley P Coe et al. suggested copy number variants (CNVs) are associated with many neurocognitive disorders. Patients with CNVs may present with varying clinical features, but presented with delayed development, it is more likely CNV played a role in the manifestation of symptoms. Hence, it would be meaningful to compare the clinical development aspect of children suspected of delayed development between patients with or without copy number variations.
Objective
To compare and analyze the clinical development aspect of children suspected of delayed development between patients with or without Copy Number Variations (CNV).
Method
A retrospective chart review was done in 65 children who underwent array CGH after visiting PM&R Department outpatient clinic with delayed development as chief complaints. Children were evaluated for Denver Developmental Screening Test (DDST), Sequenced Language Scale for Infants (SELSI)/Preschool Receptive-Expressive Language Scale (PRES). Data were collected from January 2016 to November 2017. 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 two groups: 19 children with CNVs and 46 children without CNVs.
Results
Of 65 children who underwent array CGH after visiting PM&R Department outpatient clinic with delayed development as chief complaints, average age was 34 months (mean age 34±25.3) and 19 patients (29.2%) had copy number variations (Table 1, 2).
Among CNV (+) group, 14 children underwent DDST; among CNV (-) group, 29 children underwent DDST. Among variables, gross motor scale was significant lower (p=0.0381) in CNV (+) group compared with CNV (-) group (Table 3).
Among CNV (+) group, 5 children underwent either SELSI or PRES; among CNV (-) group, 27 children underwent above language assessment examination. Both receptive and expressive language scores did not reveal significant difference between two groups.
Conclusion
Of children with delayed development who took array CGH, 29.2% were diagnosed with CNVs. The gross motor domain in DQ was significantly lower in children with CNV compared to children without CNV. This result suggests that additional genetic factors may contribute to this variability. Active detection of genomic imbalance could play some vital role when presented with prominent gross motor delay in children with delayed development. |
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General demographics
Array-CGH results and clinical features of the 19 patients with CNVs
Comparison between the groups classified by copy number variations
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