Journals / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 6

Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children’s Hospital, Lahore, Pakistan

Pages
915–924
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In conclusion,the frequency of congenital heart disease and thyroid dysfunction in Downsyndrome children is high.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Down syndrome is one of the main causes of intellectual disability in children.It occurs in every community and ethnic group.
📊
Key Findings & Data:A child having specific clinical features and chromosomalanalysis showing an extra chromosome 21 was diagnosed as having Downsyndrome.
💡
Conclusion & Impact:In conclusion,the frequency of congenital heart disease and thyroid dysfunction in Downsyndrome children is high.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Down syndrome is one of the main causes of intellectual disability in children.It occurs in every community and ethnic group. Several co-morbid conditionsare associated with this syndrome. The present study was conducted todetermine the frequency of congenital heart disease and thyroid dysfunctionin a group of children affected with this genetic disorder. It was a record basedretrospective study. A child having specific clinical features and chromosomalanalysis showing an extra chromosome 21 was diagnosed as having Downsyndrome. Diagnosis of congenital heart disease was based upon results ofechocardiography. Thyroid dysfunction was diagnosed when either or bothtetraiodothyronine and thyroid-stimulating hormone serum levels wereabnormal. Three hundred and fifty cases were enrolled in the study accordingto the preset criteria for Down syndrome. Two hundred and ten (60%) weremales and 140 (40%) females showing male to female ratio as 1.5 to 1. Majorityof the children (55.1%) presented between 7 months and 24 months of age.Congenital heart defects were found in 41.8% of the cases. Ventricular septaldefect was the most common, 41%. Thyroid dysfunction was found in 22%(n=60) of the cases of which 5.9% (n=16) had hypothyroidism. In conclusion,the frequency of congenital heart disease and thyroid dysfunction in Downsyndrome children is high. Early referral of these children to tertiary healthcare facilities is emphasized as timely detection and management of these comorbid conditions will help in reducing the morbidity and mortality in thisgroup of children.

🔖

Cite This Article

YAQOOB, M., MANZOOR, J., HYDER, S. N., SADİQ, M. (2019). Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children’s Hospital, Lahore, Pakistan. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 6, 915–924. https://ajindex.com/articles/412080

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (16)

  1. Nussbaum RL, McInnes RR, Willard HF. In: Thompson & Thompson Genetics in Medicine (8th ed.), Philadelphia, PA: Elsevier Publishers, Chapter 6, 2016: 178-183
  2. Jyothy A, Kumar KSD, Rao GNM, et al. Parental age and the origin of extra chromosome 21 in Down syndrome. J Hum Genet 2001; 46: 347-350
  3. Down JLH. Observations on an ethnic classification of idiots. London Hospital Reports 1866; 3: 259-262
  4. Lejeune J, Turpin R, Gautier M. Le mongolisme premier exemple d’aberration autosomique humaine. Ann Genet 1959; 1: 41-49
  5. Lee B. Down syndrome and other abnormalities of chromosome Number. In: Kliegman RM, Stanton BF, Schor NF, St Geme III JW, Behrman RE (eds.) Nelson Text Book of Pediatrics. (20th ed). Philadelphia, PA: Elsevier, 2016: 610-616
  6. Murthy SK, Malhotra AK, Mani S, et al. Incidence of Down syndrome in Dubai, UAE. Med Princ Pract 2007; 16: 25-28
  7. Yaqoob M, Bashir A, Tareen K, et al. Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study. Acta Paediatr 1995; 84: 267-272
  8. Jones KL, Jones MC, del Campo M. Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype. In: Smith’s Recognizable Pattern of Human Malformation (7th ed). Philadelphia: Elsevier Saunders, 2013: 7-13
  9. Vilas Boas LT, Albernaz EP, Costa RG. Prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil. J Pediatr (Rio J) 2009; 85: 403-407
  10. Ahmed I, Ghafoor T, Samore NA, Chattha MN. Down syndrome: clinical and cytogenetic analysis. J Coll Physicians Surg Pak 2005; 15: 426-429
  11. Elmagrpy Z, Rayani A, Shah A, Habas E, Aburawi EH. Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience? Cardiovasc J Afr 2011; 22: 306-309
  12. Freeman SB, Bean LH, Allen EG, et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 2008; 10: 173-180
  13. Ali FE, Bayoumy HA, Mohammad ASR, Al-Busairi WA, Al-Othman ANA. Thyroid function in Kuwaiti subjects with Down’s syndrome. Med Princ Pract 2002; 11: 206-209
  14. Tüysüz B, Beker DB. Thyroid dysfunction in children with Down's syndrome. Acta Paediatr 2001; 90: 1389-1393
  15. Shaffer LG, Tommerup N. (eds). An International System for Human Cytogenetic Nomenclature (ISCN). Basel: S. Karger Publishers, 2005
  16. Shaw CK, Thapalial A, Nanda S, Shaw P. Thyroid dysfunction in Down syndrome. Kathmandu Uni Med J