Insights into The Prenatal and Postnatal Knowledge & Critical Observations of Parents with Children who Have Down Syndrome: A Single Center Study

Authors

  • Wardah Tariq Department of Surgery, Institute Shifa Intl Hospital, City Islamabad.
  • Dawood Tahir Department of Internal Medicine, Institute Jefferson Abington Hospital, City Pennsylvania.
  • Shawana Kamran Department of Pathology, Institute Shifa Intl Hospital, City Islamabad.
  • Tatheer Zahra Department of Anatomy, Institute Shifa College of Medicine, City Islamabad.

DOI:

https://doi.org/10.47489/szmc.v38i2.507

Keywords:

Down Syndrome, Pediatrics, Lack of awareness, Pakistan, Learning Disabilities

Abstract

Introduction: Down syndrome (DS) is one of the many genetic syndromes commonly confronted by pediatricians. These people commonly share a few features which include a low level of muscle tone (hypotonia), learning disabilities, and abnormalities of the cranium and facial parts.

Aims and Objectives: To assess the pre and postnatal knowledge, of parents with Down syndrome children.

Place and Duration of study: This descriptive cross-sectional study was conducted in Shifa International Hospital (SIH), by Final year medical students, in association with the Cytogenetics Department. between December 2019 to September 2021

Material and Methods: All the chidren diagnosed with Down Syndrome at the SIH and their parents were invited to participate in our study. Convenience sampling was used depending solely on the number of parents who had accepted our invitation. A total sample size of 35 was included, of which 15 agreed to participate. A detailed questionnaire having both close ended and open questions in English and Urdu was filled out by those parents who consented. Data was entered and analysed using SPSS version 24.0. pvalue ?0.05 was taken as significant.

Results: Our results showed that 11 of the 15 DS children i.e., 73.3% were male and 4 out of 15 i.e., 26.6% were females. None of these children had siblings with the same disorder. 13 of the 15 cases (86.6%) were diagnosed post- natally only 2 cases (13.3%) pre-natally. All the cases i.e., 100% were diagnosed by a pediatrician and none were diagnosed by an obstetrician. Surprisingly increasing age of either parent seemed to increase the incidence of DS offspring. 60.0% (9 of the 15) of parents did not know the condition could be diagnosed prenatally. While 10 of 15 (66.6%) of them were aware of its general complications. Answering open ended questions parents identified the lack of awareness, special educational institutes, and presence of communication gap between them and doctors as some of the factors that hindered the welfare of DS children.

Conclusion: Only one parent knew about DS complications pre-natally and only a few were aware that a pre-natal diagnosis could be formed. Postnatal knowledge of parents was sketchy also, especially regarding the future complications faced by DS children, Parents critically observed insufficient public awareness, societal taboos, paucity of local DS data and prenatal medical DS training, and consequently lack of govermnnental support required by special needs DS children in our country.

References

Parker SE, Mai CT, Canfield MA, Rickard R, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004- 2006. Birth Defects Res A Clin Mol Teratol. 2010; 88(12):1008-16.

Sinet PM, Theopile D, Rahmani Z, Chettouch Z, Blovin JL, Prier M, et al. Mapping of Down syndrome phenotype on chromosome 21 at the molecular level. Biomed Pharmacother. 1994;48(5– 6):247–52.

Skotko BG, Capone GT, Kishnani PS. Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. Pediatrics. 2009; 124(4):e751-8.

Choi EK, Lee YJ, Yoo IY. Factors associated with the emotional response of parents at the time of diagnosis of Down syndrome. J Spec PediatrNurs. 2011; 16(2):113-20.

Van Riper MN. Family variables associated with well-being in siblings of children with Down syndrome. J Fam Nurs. 2000; 6(3):267-86.

Dent KM, Carey JC. Breaking difficult news in a newborn 212. setting: Down syndrome as a paradigm. Am J Med Genet C Semin Med Genet. 2006; 142C(3):173-9.

Miles MS, Holditch-Davis D, Burchinal P, Nelson D. Distress and growth outcomes in mothers of medically fragile infants. Nurs Res. 1999; 48(3):129- 40.

Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH, et al. The changing survival profile of people with Down’s syndrome: implications for genetic counseling. Clin Genet. 2002;62:390–3.

Ahmed KJ, Ahmed M, Jafri HS, Raashid Y, Ahmed

S. Pakistani mothers' and fathers' experiences and understandings of the diagnosis of Down syndrome for their child. J Community Genet. 2015;6(1):47-53. doi:10.1007/s12687-014-0200-6

Buyukavci MA, Dogan DG, Canaloglu SK, Kivilcim

M. Experience of mothers with Down syndrome children at the time of diagnosis. Arch Argent Pediatr. 2019 Apr 1;117(2):114-119. English, Spanish. doi: 10.5546/aap.2019.eng.114. PMID: 30869484.

https://www.stanfordchildrens.org/en/topic/default?i d=pregnancy-over-age-30-90-P02481

Down syndrome - Symptoms and causes - Mayo Clinic https://www.mayoclinic.org/diseases- conditions/down-syndrome/symptoms-causes/syc- 20355977

Hege Merete Aasen, Berge Solberg, Kristine Marie Stangenes, Ellen Aagaard Nøhr, Torbjørn Moe Eggebø Trisomy 21 – incidence, diagnosis and termination of pregnancy 1999–2018. 2021 December, 18. English, Norwegian doi.org/10.4045/tidsskr.21.0221

Siddiqui A, Ladak L, Kazi A, Kaleem S, Akbar F, Kirmani S Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative RegistryJMIR Res Protoc 2021;10(6):e24901URL: https://www.researchprotocols.org/2021/6/e24901D OI: 10.2196/24901

Haider A, Khan S, Tafweez R, Yaqoob M. Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan. Pak J Med Sci [Internet]. 2023Dec.29 [cited 2024Apr.21];40(3). Available from: https://pjms.org.pk/index.php/pjms/article/view/734 6

Ul-Ain Rahat, Faizan Mahwish, Anwar Saadia, Riaz Shazia, Ahmad Alia, Zafar Huma, Shamim Wasila (2022) Acute leukaemia in children with Down syndrome in a low middle-income country ecancer 16 1374

Edgard Sánchez-Pavón, Hector Mendoza, Javier García-Ferreyra. Trisomy 21 and Assisted Reproductive Technologies: A review. JBRA Assisted Reproduction 2022;26(1):129-141 doi: 10.5935/1518-0557.20210047

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Published

2024-04-29

How to Cite

1.
Wardah Tariq, Dawood Tahir, Shawana Kamran, Tatheer Zahra. Insights into The Prenatal and Postnatal Knowledge & Critical Observations of Parents with Children who Have Down Syndrome: A Single Center Study. Proceedings S.Z.M.C [Internet]. 2024 Apr. 29 [cited 2024 Jun. 25];38(2):122-7. Available from: http://www.proceedings-szmc.org.pk/index.php/szmc/article/view/507