Abstract
Background: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs. Methods. 116 patients were included in the study. Data relative to the CNVs and to the patients' clinical features were analyzed for genotype/phenotype correlations. Results and conclusions. 27 patients (23.3%) presented pathogenic CNVs (21 deletions, 3 duplications and 3 cases with both duplications and deletions). Univariate analysis showed a significant association of the pathogenic CNVs with the early onset of symptoms (before 1 yr of age) and the presence of malformations and dysmorphisms. Logistic regression analysis showed a significant independent predictive value for diagnosing a pathogenic CNV for malformations (P = 0.002) and dysmorphisms (P = 0.023), suggesting that those features should address a-CGH analysis as a high-priority test for diagnosis.
| Original language | English |
|---|---|
| Article number | 39 |
| Journal | Italian Journal of Pediatrics |
| Volume | 40 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Apr 28 2014 |
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Keywords
- Array CGH
- CNVs
- Developmental delay/intellectual disability
- Malformations
- Multivariate analysis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations : A multivariate analysis. / Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzurra; Paolucci, Paolo; Percesepe, Antonio.
In: Italian Journal of Pediatrics, Vol. 40, No. 1, 39, 28.04.2014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations
T2 - A multivariate analysis
AU - Caramaschi, Elisa
AU - Stanghellini, Ilaria
AU - Magini, Pamela
AU - Giuffrida, Maria Grazia
AU - Scullin, Silvia
AU - Giuva, Tiziana
AU - Bergonzini, Patrizia
AU - Guerra, Azzurra
AU - Paolucci, Paolo
AU - Percesepe, Antonio
PY - 2014/4/28
Y1 - 2014/4/28
N2 - Background: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs. Methods. 116 patients were included in the study. Data relative to the CNVs and to the patients' clinical features were analyzed for genotype/phenotype correlations. Results and conclusions. 27 patients (23.3%) presented pathogenic CNVs (21 deletions, 3 duplications and 3 cases with both duplications and deletions). Univariate analysis showed a significant association of the pathogenic CNVs with the early onset of symptoms (before 1 yr of age) and the presence of malformations and dysmorphisms. Logistic regression analysis showed a significant independent predictive value for diagnosing a pathogenic CNV for malformations (P = 0.002) and dysmorphisms (P = 0.023), suggesting that those features should address a-CGH analysis as a high-priority test for diagnosis.
AB - Background: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs. Methods. 116 patients were included in the study. Data relative to the CNVs and to the patients' clinical features were analyzed for genotype/phenotype correlations. Results and conclusions. 27 patients (23.3%) presented pathogenic CNVs (21 deletions, 3 duplications and 3 cases with both duplications and deletions). Univariate analysis showed a significant association of the pathogenic CNVs with the early onset of symptoms (before 1 yr of age) and the presence of malformations and dysmorphisms. Logistic regression analysis showed a significant independent predictive value for diagnosing a pathogenic CNV for malformations (P = 0.002) and dysmorphisms (P = 0.023), suggesting that those features should address a-CGH analysis as a high-priority test for diagnosis.
KW - Array CGH
KW - CNVs
KW - Developmental delay/intellectual disability
KW - Malformations
KW - Multivariate analysis
UR - http://www.scopus.com/inward/record.url?scp=84900424332&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84900424332&partnerID=8YFLogxK
U2 - 10.1186/1824-7288-40-39
DO - 10.1186/1824-7288-40-39
M3 - Article
C2 - 24775911
AN - SCOPUS:84900424332
VL - 40
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
M1 - 39
ER -