Effect of delayed diagnosis and treatment of congenital hypothyroidism on intelligence and quality of life: an observational study
BACKGROUND Congenital hypothyroidism is one of the most prevalent, albeit preventable causes of intellectual disability. This study determined the intellectual outcome and health-related quality of life (QoL) in children and adolescents clinically diagnosed with congenital hypothyroidism and the associations among age of starting thyroid hormone treatment, current free thyroxine (FT4) level, intelligence quotient (IQ), and QoL.
METHODS Intelligence (Wechsler scales) and QoL (PedsQLTM 4.0 parent proxy-report) tests were administered to 25 patients with congenital hypothyroidism in the pediatric clinic of Cipto Mangunkusumo Hospital, Jakarta. Nineteen patients underwent thyroid ultrasonography or scintigraphy to determine the etiology of congenital hypothyroidism.
RESULTS A total of 25 patients with the median age of 9 (5.5–12.5) years were recruited. Eighteen patients had a total IQ of <70. The age of treatment initiation did not correlate with full scale IQ (FSIQ) (r = −0.261, p = 0.071) and verbal IQ (VIQ) (r = −0.232, p = 0.265). The late initiation of treatment was correlated with lower performance IQ (PIQ) (r = −0.325, p = 0.025). The higher current FT4 levels was correlated with higher scores of
FSIQ (r = 0.314, p = 0.046) and PIQ (r = 0.320, p = 0.043). The late initiation of treatment (r = 0.006, p = 0.980) and higher current FT4 levels (r = 0.246, p = 0.310) were not correlated with QoL. Hemiagenesis of thyroid gland was the most common etiology.
CONCLUSIONS The late initiation of thyroid hormone substitution in patients with congenital hypothyroidism negatively affects intellectual abilities.
Rustama DS, Fadil MR, Harahap ER, Primadi A. Newborn screening in Indonesia. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:76-9.
Léger J. Congenital hypothyroidism: a clinical update of long-term outcome in young adults. Eur J Endocrinol. 2015;172(2):R67- 77. https://doi.org/10.1530/EJE-14-0777
Klein AH, Meltzer S, Kenny FM. Improved prognosis in congenital hypothyroidism treated before age three months. J Pediatr. 1972;81(5):912-5. https://doi.org/10.1016/S0022-3476(72)80542-0
Rahmani K, Yarahmadi S, Etemad K, Koosha A, Mehrabi Y, Aghang N, et al. Congenital hypothyroidism: optimal initial dosage and time of initiation of treatment: a systematic review. Int J Endocrinol Metab. 2016;14(3):e36080. https://doi.org/10.5812/ijem.36080
Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171-87. https://doi.org/10.1053/j.semperi.2015.03.002
Indonesian Ministry of Health. Ministreal Decree no.78 issued on 2014. [statute on the Internet]. 2017 [cited 2017 Oct 30]. Available from: http://kesga.kemkes.go.id.
Jasin MR, Prasmusinto D, Pulungan AB. Epidemiology of congenital hypothyroidism and screening program in Dr. Cipto Mangunkusumo hospital: a hospital-based study. 6th Annual Scientific Meeting of Indonesian Pediatric Society 2013. 2013 Oct 5-9; Solo (Indonesia). c2017.
Rezaeian S, Moghimbeigi A, Esmailnasab N. Gender risk factors of congenital hypothyroidism: an interaction hypothesis examination. Int J Endocrinol Metab. 2014;12(2):e13946. https://doi.org/10.5812/ijem.13946
Waller DK, Anderson JL, Lorey F, Cunningham GC. Risk factors for congenital hypothyroidism: an investigation of infant's birth weight, ethnicity, and gender in California, 1990-1998. Teratology. 2000;62(1):36-41. https://doi.org/10.1002/1096-9926(200007)62:1<36::AID-TERA8>3.0.CO;2-W
Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5:17. https://doi.org/10.1186/1750-1172-5-17
Letarte J, Guyda H, Dussault JH. Clinical, biochemical and radiological features of neonatal hypothyroid infants. In: Burrow GN, ed. Neonatal thyroid screening. New York: Raven Press. 1980. p. 225-35.
Najmi SB, Hashemipour M, Maracy MR, Hovsepian S, Ghasemi M. Intelligence quotience in children with congenital hypothyroidism: the effect of diagnostic and treatment variables. J Res Med Sci. 2013;18(5):395-9.
Seo MK, Yoon JS, So CH, Lee HS, Hwang JS. Intellectual development in preschool children with early treated congenital hypothyroidism. Ann Pediatr Endocrinol Metab. 2017;22(2):102- 7. https://doi.org/10.6065/apem.2017.22.2.102
Sato H, Nakamura N, Harada S, Kakee N, Sasaki N. Quality of life of young adults with congenital hypothyroidism. Pediatr Int. 2009;51(1):126-31. https://doi.org/10.1111/j.1442-200X.2008.02686.x
van der Sluijs Veer L, Kempers MJ, Maurice-Stam H, Last BF, Vulsma T, Grootenhuis MA. Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening. Child Adolesc Psychiatry Ment Health. 2012;6(1):32. https://doi.org/10.1186/1753-2000-6-32
van der Sluijs Veer L, Kempers MJ, Last BF, Vulsma T, Grootenhuis MA. Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab. 2008;93(7):2654-61. https://doi.org/10.1210/jc.2007-1560
Mendorla G, Sava L, Calaciura F, Lisi E, Castorina S, Vigneri R. Personality traits and mental prognosis in patients with congenital hypothyroidism not treated from early life. J Endocrinol Invest. 1988;11(4):289-95. https://doi.org/10.1007/BF03350153
Hanukoglu A, Perlman K, Shamis I, Brnjac L, Rovet J, Daneman D. Relationship of etiology to treatment in congenital hypothyroidism. J Clin Endocrinol Metab. 2001;86(1):186-91. https://doi.org/10.1210/jcem.86.1.7124
Albert B, Heather N, Cutfield W, Webster D, Gunn A, Jefferies C, et al. Neurodevelopmental outcomes are normal in congenital hypothyroid children diagnosed early and treated aggressively over the first three years. Int J Pediatr Endocrinol. 2013;2013(Suppl 1):O23. https://doi.org/10.1186/1687-9856-2013-S1-O23
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