PP11.7 – 2822: Prevalence of comparative genomic hybridization (CGH-array) abnormalities among autistic spectrum disorders (ASD) patients vs other risk populations
| Autor: | V. de Diego-Almarza, L. Pastor-Ferrándiz, R. Ruiz-Miralles, F. Carratalá-Marco, P. Andreo-Lillo, M. Juste-Ruiz |
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| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty High prevalence genetic structures business.industry General Medicine Autistic spectrum Risk groups Pediatrics Perinatology and Child Health medicine Observational study In patient Neurology (clinical) Copy-number variation business Comparative genomic hybridization Paediatric population |
| Zdroj: | European Journal of Paediatric Neurology. 19:S75-S76 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/s1090-3798(15)30250-6 |
| Popis: | Objective 1) To describe the frequency of Copy Number Variants (CNV) and known mutations (KM) in a sample of Autistic Spectrum Disorders patients (ASD) versus other risk groups like mental retardation/developmental delay, dysmorphologic and epileptic, coming from our referral paediatric population. 2) To know if, as reported, CNV are more prevalent among ASD patients than in other risk groups. Methods Between January 2011 to December of 2014, 243 patients coming from the reference area, who meet the criteria of the National Genetic Society for CGH-array studies, were gradually distributed, into four groups: Mental retardation and/or Developmental delay (MR=117); Autistic Spectrum Disorders (ASD=88); Malformations and Illnesses (MI=21) and Behavioural Disorders (BD=13) attending to the main diagnosis in each patient. Data, following the country rule for observational studies, were analysed by means of the chi-square trend test (StatCalc module of the Epi Info7 statistical package). The microarray test was performed in all patients (CGX-Agilent 60k, hg19) (Cytogenomics and Genoglyphix). Results The CGH-array findings distribution were for MR group: KM=26; CNV=47 and Normal=44; for ASD group: KM=15; CNV=32 and Normal=41; for MI group: KM=0; CNV=7 and Normal=14 and for BD group: KM=1; CNV=5 and Normal=7. The chi-square trend analysis of KM (n=42) versus CNV+Normal (n=201) showed a significant high frequency among MR patients (n=26 out of 42; 61.9%) than in the remaining groups (n=91 out of 201; 45.2%) (Chi-square = 6.78; p=0.009). MR+ASD+BD patients showed a significantly high prevalence of KM (42 out of 218) than MI patients (nil out of 25) (Chi-square = 4.67; p=0.003). Conclusion 1) KM and CNV are significantly more frequent among MR patients than in the other groups. 2) CNV are not significantly higher in our ASD group. 3) KM and CNV are more prevalent in functional neurodevelopmental problems than in patients suffering from dysmorphologic features alone. |
| Databáze: | OpenAIRE |
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