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J Pediatr Genet 2023; 12(01): 053-057
DOI: 10.1055/s-0041-1732475
Original Article

Clinical Profile of Indian Children with Down Syndrome

Inusha Panigrahi 
1   Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India
,
Yogita Bhatt
1   Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India
,
Shivani Malik
1   Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India
,
Parminder Kaur
1   Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India
,
Anupriya Kaur
1   Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India
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Abstract

This retrospective study was performed on 208 patients with Down syndrome (DS) from heterogeneous ethnic population and admitted under Genetics Metabolic Unit. The aim of the study was to look for phenotypic variability and associated complications in children and adolescents with DS. The average age of the evaluated DS patients was 34 months. Cardiac anomalies were found in 128 (62%) of the 208 cases. Among the cardiac disorders, atrial septal defects accounted for 30% of cases. Other complications observed were hypothyroidism and developmental delay in around 31% cases and neonatal cholestasis in 14% cases. Also, we report two cases with Moya-Moya disease and one case with atlanto-axial dislocation.

Keywords

aneuploidy - atrioventricular septal defect - double aneuploidy - karyotyping - trisomy 21

Authors' Contributions

Initial data collection and drafting were done by Y.B. and S.M. Editing and suggestions were then done by I.P. PM was also involved in editing and also in management of some cases. I.P. was involved in management of patients in the ward and also follow-up in the Genetic Clinic. A.K. was also involved in follow-up evaluation of the patients. All authors read, gave suggestions, and approved of the final manuscript.




Publikationsverlauf

Eingereicht: 09. Februar 2021

Angenommen: 15. Juni 2021

Artikel online veröffentlicht:
26. Juli 2021

© 2021. Thieme. All rights reserved.

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