DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20222648
Published: 2022-10-27

Evaluation of clinical profile to diagnose Down syndrome with respect to karyotyping as gold standard: a cross-sectional study

Prashant K. Verma, Modrecha Akhil, Hari Gaire

Abstract


Background: Down syndrome (DS) is a genetic disorder characterized with trisomy of chromosome 21 with a high prevalence among countries like India. DS patients present clinically with intellectual disability, congenital heart defect and other major abnormalities. Early diagnosis of DS and intervention with supportive care improves the patient care. To study the efficacy/use of Hall’s and Fried’s scoring system in diagnosing DS confirmed with karyotyping.

Methods: The patients presented with dysmorphology, intellectual disability or other clinical features of DS are assessed for inclusion using Hall’s and Fried’s scoring in which patients with score ≥3 are included and considered positive. These patients are further confirmed with karyotyping. The results of Hall’s and Fried’s scoring are comparing against karyotyping results to check for its efficacy.

Results: The cross-sectional study conducted found males as majorly affected sex (60.4%) for DS and the mean age of child at diagnosis as 6.69±4.84 months in infant stage and 61.86±60.16 months after infant stage. Flat face was present in 100% followed by up slanting palpebral fissures, protruding tongue, abundant neck skin and little digit clinodactyly. ID is seen in all the patients with CHD in 48.8% population and GI abnormalities in 9.3%. Among CHD’s, VSD is majorly seen followed by AVSD.

Conclusions: The study found using combined criteria of both Fried’s and Hall’s score/criteria as an excellent screening test to suspect DS in community level compared to an individual score/criteria.


Keywords


DDown syndrome, Karyotyping, Hall’s and Fried’s scoring, Genetic disorder

Full Text:

PDF

References


Akhtar F, Bokhari SRA. Down Syndrome. The 5-Minute Pediatric Consult, 8th Edition. 2021:306-307.

Holmes G. Gastrointestinal disorders in Down syndrome. Gastroenterol Hepatol Bed Bench. 2014;7(1):6.

AH B, EJ G. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol. 2004;46(4).

Mutton D, Alberman E, Hook EB. Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet. 1996;33(5):387-94.

Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet. 2002;5(3):192-6.

Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. “Down syndrome: an insight of the disease.” J Biomed Sci. 2015;22(1).

Pritchard MA, Kola I. The "gene dosage effect" hypothesis versus the "amplified developmental instability" hypothesis in Down syndrome. J Neural Transm Suppl. 1999;57:293-303.

Choi JK. Hematopoietic Disorders in Down Syndrome. Int J Clin Exp Pathol. 2008;1(5):387.

Maslen CL, Babcock D, Robinson SW, Bean LJH, Dooley KJ, Willour VL, et al. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A. 2006;140(22):2501-5.

Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, et al. Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects. Am J Hum Genet. 2003;72(4):1047.

Pearlson GD, Breiter SN, Aylward EH, Warren AC, Grygorcewicz M, Frangou S, et al. MRI brain changes in subjects with Down syndrome with and without dementia. Dev Med Child Neurol. 1998;40(5):326-34.

Berrocal T, Lamas M, Gutiérrez J, Torres I, Prieto C, del Hoyo ML. Congenital anomalies of the small intestine, colon, and rectum. Radiographics. 1999;19(5):1219-36.

Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Am J Med Genet A. 2007;143A(1):42-50.

Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, le Beau MM, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet. 2002;32(1):148-52.

Renna MD, Pisani P, Conversano F, Perrone E, Casciaro E, Renzo GC di, et al. Sonographic markers for early diagnosis of fetal malformations. World J Radiol. 2013;5(10):356.

Wald NJ, Bestwick JP. Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down’s Syndrome. PLoS One. 2013;8(3).

Jain S, Agarwal S, Panigrahi I, Tamhankar P, Phadke S. Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis. Genet Test Mol Biomarkers. 2010;14(4):489-491.

Chim SSC, Jin S, Lee TYH, Lun FMF, Lee WS, Chan LYS, et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin Chem. 2008;54(3):500-11.

Facts about Down Syndrome. CDC. Available at: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Available at: 28 August 2022.

BDSS Corp. coGuide Statistics Software, Version 1.0. Bangalore, India: BDSS corp. 2020. Available at: https://www.coguide.in. Available at: 28 August 2022.

Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arch Med Res. 2004;35(1):31-5.

Zheng CG, Qin J, Du J, Chen K, Chen C, Tian XX, et al. Cytogenetic study of Down syndrome cases in Nanning, China. Yi Chuan. 2009;31(3):261-4.

Wahab AA, Bener A, Sandridge AL, Hoffmann GF. The pattern of Down syndrome among children in Qatar: a population-based study. Birth Defects Res A Clin Mol Teratol. 2006;76(8):609-12.

Stoll C, Dott B, Alembik Y, Roth MP. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet. 2015;58(12):674-80.

Jaruratanasirikul S, Limpitikul W, Dissaneevate P, Booncharoen P, Tantichantakarun P. Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand. World J Pediatr. 2017;13(2):152-7.

Muntha A, Moges T. Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia. Ethiop J Health Sci. 2019;29(2):165-74.

Layangool T, Sangtawesin C, Kirawittaya T, Prompan W, Prachasilchai P, Pechdamrongsakul A. Survival analysis of Down syndrome with congenital heart disease: a 5-years registry at QSNICH. J Med Assoc Thai. 2014;97(6):S108-14.

Bertelli ÉCP, 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. 2009;55(5):547-52.

Sharath K, Asha KR, Subhash LP, Kadandale JS. Cytogenetic, epidemiological and clinical profile of children with Down syndrome in Karnataka. J Anatom Soc India. 2018;67(2):133-8.