Clinical Profile of Indian Children with Down Syndrome

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.

Publication History

Received: 09 February 2021

Accepted: 15 June 2021

Article published online:
26 July 2021

• References

• 1 Mégarbané A, Ravel A, Mircher C. et al. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Genet Med 2009; 11 (09) 611-616
• 2 Al-Nbaheen MS, Al-Nbaheen MS. Analysis of Downs syndrome with molecular techniques for future diagnoses. Saudi J Biol Sci 2018; 25 (03) 558-562
• 3 Weijerman ME, de Winter JP. Clinical practice. The care of children with Down syndrome. Eur J Pediatr 2010; 169 (12) 1445-1452
• 4 Nussbaum RL, McInnes RR, Willard HF. eds. Thompson & Thompson Genetics in Medicine. 7th ed.. Philadelphia, PA: Saunders; 2007
• 5 Kruszka P, Porras AR, Sobering AK. et al. Down syndrome in diverse populations. Am J Med Genet A 2017; 173 (01) 42-53
• 6 Stoll C, Dott B, Alembik Y, Roth MP. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet 2015; 58 (12) 674-680
• 7 Källén B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65 (02) 160-166
• 8 Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77 (05) 431-438
• 9 Pavarino Bertelli EC, Biselli JM, Bonfim D, Goloni-Bertollo EM. Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil. Rev Assoc Med Bras (1992) 2009; 55 (05) 547-552
• 10 Kim MA, Lee YS, Yee NH, Choi JS, Choi JY, Seo K. Prevalence of congenital heart defects associated with Down syndrome in Korea. J Korean Med Sci 2014; 29 (11) 1544-1549
• 11 El-Gilany A-H, Yahia S, Wahba Y. Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study. Ann Saudi Med 2017; 37 (05) 386-392
• 12 Asim A, Agarwal S, Panigrahi I, Saiyed N, Bakshi S. MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome. Intractable Rare Dis Res 2017; 6 (04) 295-298
• 13 Asim A, Agarwal S, Panigrahi I, Sarangi AN, Muthuswamy S, Kapoor A. CRELD1 gene variants and atrioventricular septal defects in Down syndrome. Gene 2018; 641 (641) 180-185
• 14 Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol 2007; 79 (09) 657-663
• 15 Morris JK, Garne E, Wellesley D. et al. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study. Am J Med Genet A 2014; 164A (12) 2979-2986
• 16 Alam El-Deen N, Alwakeel AA, El-Gilany A-H, Wahba Y. Burden of family caregivers of Down syndrome children: a cross-sectional study. Fam Pract 2020;
• 17 Ravel A, Mircher C, Rebillat A-S, Cieuta-Walti C, Megarbane A. Feeding problems and gastrointestinal diseases in Down syndrome. Arch Pediatr 2020; 27 (01) 53-60
• 18 Kumar P, Panigrahi I, Sankhyan N, Ahuja C, Goyadi PK. Down syndrome with Moyamoya disease: a case series. J Pediatr Neurosci 2018; 13 (02) 201-204
• 19 Nakamura H, Sato K, Yoshimura S, Hayashi Y, Izumo T, Tokunaga Y. Moyamoya disease associated with Graves' disease and Down syndrome: a case report and literature review. J Stroke Cerebrovasc Dis 2021; 30 (01) 105414
• 20 Rodrigues MA, Morgade LF, Dias LFA. et al. Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease. Genet Mol Res 2017; 16 (03) gmr16039780
• 21 Pierce MJ, LaFranchi SH, Pinter JD. Characterization of thyroid abnormalities in a large cohort of children with Down syndrome. Horm Res Paediatr 2017; 87 (03) 170-178