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

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Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on central CH are scarce. Most central CH patients have multiple pituitary hormone deficiencies (MPHD); these patients are also at risk for neonatal hypoglycemia.to assess cognitive and motor outcome in early-treated central CH patients, detected by the Dutch neonatal screening.In this cross-sectional study, primary outcome full-scale IQ (FSIQ) was measured in MPHD patients and isolated central CH patients born between 1-1-1995 and 1-1-2015, with siblings as controls. Secondary outcomes were intelligence tests' 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.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 MPHD patients and 98.2 (95%CI 93.0-103.5) in isolated central CH patients. While MPHD patients scored lower FSIQs than siblings (mean difference -7.9 points, 95%CI -13.4 to -2.5; p=0.002), isolated central CH patients 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=0.004).In early-treated central CH, FSIQ is comparable with siblings in isolated central CH patients, while patients with MPHD have a significantly lower FSIQ. This may be explained by disease-specific consequences of MPHD, e.g. neonatal hypoglycemia and more severe hypothyroidism.


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