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Objectives Current evidence recommend Microarray testing as first-tier investigation for Children with developmental Delay and moderate to severe intellectual disability. Our aim is to see the significance and diagnostic yield of Microarray testing in children with Developmental Delay presenting to Wexford General Hospital Methods A retrospective review of randomly selected 53 patient charts was done who were advised Microarray Testing from January 2021 to December 2021 due to underlying Disordered Development. We categorized our patients into different groups as per their age, sex, reason for referral, dysmorphic features, any known cause for developmental delay like Autism and result of microarray. Results Out of the total 53 patients, 36 were male and 17 were female. We observed a variable results and surprisingly different types of deletions were found in few of our patients. Microarray results showed abnormality in 6 patients (11.3%) which is highly significant. It was observed that 2 of the patients have the chromosome 16 abnormality detected that is 16p11.2. However one patient has a Duplication defect while the other has a Deletion Defect of the same region, both these defects are associated with speech delay and Autism Spectrum Disorder. Three of our patients have micro duplication which has strong association with Autistic spectrum disorder. Chromosomal imbalance was detected in one child who has X- linked ichthyosis and delayed development. The last patient has positive connexin 26 genetics which was requested because of speech delay. Conclusion A significant chromosomal abnormality was found in patients with Autistic spectrum disorder. Most of these defects are in the form of micro duplication or deletion. Our result showed 6 out of 53 patients have underlying genetic defect and underlying disordered development. We recommend to continue Testing Microarray as the first line investigation in all patients with disordered development and moderate to severe intellectual disability. References Bellam M, Byrne O, Sege R. Developmental assessment of children. BMJ 2013;346. doi: https://doi.org/10.1136/bmj.e8687 (Published 15 January 2013) Cite this as: BMJ 2013;346:e8687. Squires J. and Bricker D.Ages and Stages Questionnaires, Third Edition(ASQ-3TM). A parent-completing child monitering system.2009Paul H Brookes Publishing Co.Baltimore. National guideline on the use of the Ages and Stages Questionnaire for Developmental Screening of Children between 1 month and 66 months of age.PPPG Reference No: Version No: Pediatrics 2006;118(1):405–420.
Batool et al. (Tue,) studied this question.