Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (33)
- Cooper GM, "A copy number variation morbidity map of developmental delay", Nat Genet, 43, pp.838~846 (2011)
- Greenway SC, "De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot", Nat Genet, 41, pp.931~935 (2009)
- Mefford HC, "Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy", Am J Hum Genet, 81, pp.1057~1069 (2007)
- Iafrate AJ, "Detection of large-scale variation in the human genome", Nat Genet, 36, pp.949~951 (2004)
- Redon R, "Global variation in copy number in the human genome", Nature, 444, pp.444~454 (2006)
- Sebat J, "Large-scale copy number polymorphism in the human genome", Science, 305, pp.525~528 (2004)
- Stankiewicz P, "Structural variation in the human genome and its role in disease", Annu Rev Med, 61, pp.437~455 (2010)
- Zhang F, "Non-coding genetic variants in human disease", Hum Mol Genet, 24, pp.R102~10 (2015)
- Watson CT, "The genetics of microdeletion and microduplication syndromes : an update", Annu Rev Genomics Hum Genet, 15, pp.215~244 (2014)
- Martin CL, "Copy number variants, aneuploidies, and human disease", Clin Perinatol, 42, pp.227~242 (2015)
- Miller DT, "Consensus statement : chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies", Am J Hum Genet, 86, pp.749~764 (2010)
- Sagoo GS, "Array CGH in patients with learning disability(mental retardation)and congenital anomalies : updated systematic review and metaanalysis of 19 studies and 13, 926 subjects", Genet Med, 11, pp.139~146 (2009)
- Shevell M, "Global developmental delay and mental retardation or intellectual disability : conceptualization, evaluation, and etiology", Pediatr Clin North Am, 55, pp.1071~1084 (2008)
- van Karnebeek CD, "Treatable inborn errors of metabolism causing intellectual disability : a systematic literature review", Mol Genet Metab, 105, pp.368~381 (2012)
- Hehir-Kwa JY, "Exome sequencing and whole genome sequencing for the detection of copy number variation", Expert Rev Mol Diagn, 15, pp.1023~1032 (2015)
- Frankenburg WK, "Denver II: training manual" (1992), Denver Developmental Materials Inc
- Frankenburg WK, "The Denver II : a major revision and restandardization of the Denver Developmental Screening Test", Pediatrics, 89, pp.91~97 (1992)
- Sularyo T, "Role of Denver II and Development Quotients in the management of several pediatric developmental and behavioral disorders", Paediatr Indones, 52, pp.51~56 (2012)
- Charan GS, "Study of perinatal factors in children with developmental delay", Int J Contemp Pediatr, 4, pp.182~190 (2017)
- Nguefack S, "Causes of developmental delay in children of 5 to 72 months old at the child neurology unit of Yaounde Gynaeco-Obstetric and Paediatric Hospital(Cameroon)", Open J Pediatr, 3, pp.279~285 (2013)
- Sohn YB, "Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome", Mol Genet Metab, 114, pp.156~160 (2015)
- Tiwari K, "Impact of malnutrition on head size and development quotient", Int J Res Med Sci, 5, pp.3003~3006 (2017)
- 신희선, "발달문제 위험 아동 선별을 위한 한국형 Denver II 검사의 타당성에 관한 연구", Child Health Nursing Research, 11(3), pp.316~321 (2005), 한국아동간호학회
- Seong Woo Kim, "The Differences in Clinical Aspect Between Specific Language Impairment and Global Developmental Delay", Annals of Rehabilitation Medicine, 38(6), pp.752~758 (2014), 대한재활의학회
- Kurotaki N, "Phenotypic consequences of genetic variation at hemizygous alleles : Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve(FXII)deficiency", Genet Med, 7, pp.479~483 (2005)
- Lupski JR, "Structural variation in the human genome", N Engl J Med, 356, pp.1169~1171 (2007)
- McCarroll SA, "Integrated detection and population-genetic analysis of SNPs and copy number variation", Nat Genet, 40, pp.1166~1174 (2008)
- de Vries BB, "Diagnostic genome profiling in mental retardation", Am J Hum Genet, 77, pp.606~616 (2005)
- Bernier R, "Clinical phenotype of the recurrent 1q21.1 copy-number variant", Genet Med, 18, pp.341~349 (2016)
- Gialluisi A, "Investigating the effects of copy number variants on reading and language performance", J Neurodev Disord, 8, pp.17~ (2016)
- Coughlin CR 2nd, "Clinical impact of copy number variation analysis using highresolution microarray technologies : advantages, limitations and concerns", Genome Med, 4, pp.80~ (2012)
- Coulter ME, "Chromosomal microarray testing influences medical management", Genet Med, 13, pp.770~776 (2011)
- Gilissen C, "Genome sequencing identifies major causes of severe intellectual disability", Nature, 511, pp.344~347 (2014)