The Assessment of Risk Factors for Development of Disability in Children with Congenital Hypothyroidism in Uzbekistan within a Neonatal Screening

ORIGINAL ARTICLE
Gulnara N. Rakhimova, Gulshad M. Zhiemuratova, Anna V. Aliyevа

 
International Journal of Biomedicine. 2021;11(3):265-270.
DOI: 10.21103/Article11(3)_OA2
Originally published September 9, 2021

Abstract: 

The aim of this study was to detect the most significant risk factors leading to disability in children with congenital hypothyroidism (CH) in the autonomous Republic of Karakalpakstan (RK) during neonatal screening (NS).
Methods and Results: We used data of patients with CH registered within NS in the RK in 1998-2019 by the Center for Screening of Mother and Child. To predict and calculate the most significant risk factors for disability in children with CH, we used the method of normalizing intensive indicators by E. Shigan, based on the Bayes theorem.
The study recruited 111 patients with CH aged from 2 months to 20 years. Among the patients, there were 79(71.2%) girls and 32(28.8%) boys. Additionally, 34(30.6%) children with CH had been disabled since childhood. The lack of compensation after the start of treatment had the highest and most significant degree of disability risk (RR=6.39, 95% CI: 7.4-1.2). Among patients diagnosed outside of screening, disability developed 4.1 times more often than with the results of NS (RR=4.0, 95% CI: 1.1-10.6). In CH patients diagnosed outside of screening, “absence of reagents” was a significant factor increasing the risk of disability by 6.1 times (RR=6.1, 95% CI: 1.8-11.2). Such risk factors as “home delivery” and “parental refusal of the primary test” increased the risk of disability by 3.4 times (RR=3.4, 95% CI: 2.5-8.4) and 1.6 times (RR=2.4, 95% CI: 2.93-7.12), respectively. The possible errors or false-negative answers in the “normal” secondary test and the “normal” primary test increased the risk of disability by 3.3 times (RR=4.0, 95% CI: 3.2-10.7) and 2.4 times (RR=2.42, 95% CI: 2.93-7.12), respectively. Factors such as the “late response to retesting” (RR=0.82 95% CI: 0.65-0.54), “late awareness on the part of the medical staff” (RR=0.29, 95% CI: 0.27- 0.08), and "parental refusal of treatment" (RR=1.03, 95% CI: 0.81-0.84) showed less significance in patients' disability.  The “starting treatment after 1 month” factor was 4.2 times more likely to result in disability than “starting treatment before 1 month” (RR=4.2, 95% CI: 4.5 -1.1). Cancellation of levothyroxine by parents for children up to 3 years of age and cancellation of treatment by parents after 3 years more likely resulted in disability by 1.4 times (RR=1.43, 95% CI: 1.4 -2.01)  and 3.3 times (RR=3.33, 95% CI: 3.3-10.9), respectively.
Conclusion: the most significant risk factors for the development of disability in children with CH in the RK were (in descending order): no compensation after starting treatment, no reagents for screening, starting treatment after 1 year, diagnostics outside of screening, cancellation of L-T4 by parents before and after age 3 years, false-negative secondary TSH test, false-negative primary test, parents refusing the primary test, and childbirth at home.

Keywords: 
risk factors • congenital hypothyroidism • disability • neonatal screening
References: 
  1. Dedov II, Peterkova VA. Federal clinical guidelines (protocols) for the management of children with endocrine diseases. M., “Praktika,” 2014. [In Russian].
  2. Chikulaeva OA. [The Federal Clinical Recommendations on Diagnostics and Treatment of Congenital Hypothyroidism in the Children]. Problemy Endokrinologii. 2014;60(6):53-66. [Article in Russian].
  3. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. 
  4. Kopel J. A global perspective on newborn congenital hypothyroidism screening. Proc (Bayl Univ Med Cent). 2019 Oct 17;33(1):137-139. doi: 10.1080/08998280.2019.1668715. 
  5. Sedassari Ade A, de Souza LR, Sedassari Nde A, Borges Mde F, Palhares HM, de Andrade Neto GB. Sonographic evaluation of children with congenital hypothyroidism. Radiol Bras. 2015 Jul-Aug;48(4):220-4. doi: 10.1590/0100-3984.2014.0040. 
  6. Ismailov S.I. Iodine deficiency in Uzbekistan. Guide. Тashkent, 2016. [In Russian].
  7. Dayal D, Prasad R. Congenital hypothyroidism: current perspectives. Research and Reports in Endocrine Disorders. 2015;5:91-102.
    doi: 10.2147/RRED.S56402.
  8. van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M. Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333.
  9. Kanike N, Davis A, Shekhawat PS. Transient hypothyroidism in the newborn: to treat or not to treat. Transl Pediatr. 2017 Oct;6(4):349-358. doi: 10.21037/tp.2017.09.07. 
  10. Lain S, Trumpff C, Grosse SD, Olivieri A, Van Vliet G. Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? Eur J Endocrinol. 2017 Nov;177(5):D1-D12. doi: 10.1530/EJE-17-0107. 
  11. Dedov II, Bezlepkina OB, Vadina TA, Baibarina EN, Chumakova OV, Karavaeva LV, Bezlepkin AS, Peterkova VA. [Screening for congenital hypothyroidism in the Russian Federation]. Problemy Endokrinologii. 2018;64(1):14-20. [Article in Russian].
  12. Rakhimova G.N., Zhiemuratova G.M. [Optimization of management and treatment of congenital hypothyroidism on the example of the Republic of Karakalpakstan]. Zhurnal Teoreticheskoi i Klinicheskoi Meditsiny. 2019;(3):89-94. [Article in Russian].
  13. Heidari Z, Feizi A, Hashemipour M, Kelishadi R, Amini M. Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. Endocrine. 2016 Nov;54(2):448-459. doi: 10.1007/s12020-016-1010-x. 
  14. Büyükgebiz A. Newborn screening for congenital hypothyroidism. J Clin Res Pediatr Endocrinol. 2013;5 Suppl 1(Suppl 1):8-12. doi: 10.4274/jcrpe.845. 
  15. Shigan EN. Methods of forecasting and modeling in social and hygienic research.  M., “Meditsina,” 1986. [In Russian].
  16. Kasatkina EP, Shilin DE, Osmanova EI, Baykov AD, Andreichenko AP. [Evaluation of the effectiveness and optimization of the screening diagnostic service for congenital hypothyroidism in Moscow]. Problemy Endokrinologii. 2000;46(5):10-14. [Article in Russian].
  17. Rakhimova GN,   Zhiemuratova GM.  [Evaluation of efficiency of carrying out neonatal screening in RKK, depending on various diagnostic criteria]. Uzbek Medical Journal. 2020;(3):138. [Article in Russian].
  18. Yang HH, Qiu L, Zhao JQ, Yang N, Gong LF, Kong YY. [Epidemiologic characteristics and risk factors for congenital hypothyroidism from 1989 to 2014 in Beijing]. Zhonghua Yu Fang Yi Xue Za Zhi. 2016 Aug 6;50(8):728-32. doi: 10.3760/cma.j.issn.0253-9624.2016.08.011. [Article in Chinese].
  19. Nayak P, Moben R, Chako N, Saons ST. Role of technetium scan  in  diagnosis  of  congenital  hypothyroidism. Inter J Res Med Sci. 2017;5(7):3218-3221.  
  20. Alimova I, Romankova T. [Register for congenital hypothyroidism and efficiency of neonatal screening in Smolensk region]. Klinicheskaia I Eksperimentalnaia Tiroidologia. 2011;7(1):36-40. [Article in Russian].

Download Article
Received June 24, 2021.
Accepted July 27, 2021.
©2021 International Medical Research and Development Corporation.