Cognitive and motor outcome in patients with early-detected central congenital hypothyroidism compared with siblings

Abstract Context Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on central CH are scarce. Most patients with central CH have multiple pituitary hormone deficiencies (MPHD); these patients are also at risk for neonatal hypoglycemia. Objective To assess cognitive and motor outcome in patients with early-treated central CH detected by the Dutch neonatal screening. Methods In this cross-sectional study, primary outcome full-scale intelligence quotient (FSIQ) was measured in patients with MPHD and patients with isolated central CH born between January 1, 1995, and January 1, 2015, with siblings as controls. Secondary outcomes were intelligence test subscales and motor function. Linear mixed models were used to compare both patient groups and siblings, followed by post hoc tests in case of significant differences. Results Eighty-seven patients (52 MPHD; 35 isolated central CH) and 52 siblings were included. Estimated marginal means for FSIQ were 90.7 (95% CI 86.4-95.0) in patients with MPHD and 98.2 (95% CI 93.0-103.5) in patients with isolated central CH. While patients with MPHD scored lower FSIQs than siblings (mean difference –7.9 points, 95% CI –13.4 to –2.5; P = .002), patients with isolated central CH did not. Processing speed was lower in both patient groups than in siblings (mean differences –10.5 and –10.3 points). Motor difficulties occurred significantly more often in patients (33%) versus siblings (5%; P = .004). Conclusion In early-treated central CH, FSIQ is comparable with siblings in patients with isolated central CH, while patients with MPHD have a significantly lower FSIQ. This may be explained by disease-specific consequences of MPHD, such as neonatal hypoglycemia and more severe hypothyroidism.

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Neonatal Screening for Congenital Hypothyroidism in The Netherlands: Cognitive and Motor Outcome at 10 Years of Age

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2006-1538 ◽

2007 ◽

Vol 92 (3) ◽

pp. 919-924 ◽

Cited By ~ 40

Author(s):

Marlies J. E. Kempers ◽

Liesbeth van der Sluijs Veer ◽

Ria W. G. Nijhuis-van der Sanden ◽

Caren I. Lanting ◽

Libbe Kooistra ◽

...

Keyword(s):

The Netherlands ◽

Congenital Hypothyroidism ◽

Outcome Measure ◽

Motor Deficits ◽

Free T4 ◽

Main Outcome Measure ◽

Normative Population ◽

Motor Outcome ◽

Iq Scores ◽

And Performance

Abstract Context: Patients with thyroidal congenital hypothyroidism (CH-T) born in The Netherlands in 1981–1982 showed persistent intellectual and motor deficits during childhood and adulthood, despite initiation of T4 supplementation at a median age of 28 d after birth. Objective: The present study examined whether advancement of treatment initiation to 20 d had resulted in improved cognitive and motor outcome. Design/Setting/Patients: In 82 Dutch CH-T patients, born in 1992 to 1993 and treated at a median age of 20 d (mean, 22 d; range, 2–73 d), cognitive and motor outcome was assessed (mean age, 10.5 yr; range, 9.6–11.4 yr). Severity of CH-T was classified according to pretreatment free T4 concentration. Main Outcome Measure: Cognitive and motor outcome of the 1992–1993 cohort in comparison to the 1981 to 1982 cohort was the main outcome measure. Results: Patients with severe CH-T had lower full-scale (93.7), verbal (94.9), and performance (93.9) IQ scores than the normative population (P < 0.05), whereas IQ scores of patients with moderate and mild CH-T were comparable to those of the normative population. In all three severity subgroups, significant motor problems were observed, most pronounced in the severe CH-T group. No correlations were found between starting day of treatment and IQ or motor outcome. Conclusions: Essentially, findings from the 1992–1993 cohort were similar to those of the 1981–1982 cohort. Apparently, advancing initiation of T4 supplementation from 28 to 20 d after birth did not result in improved cognitive or motor outcome in CH-T patients.

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