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Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal
Liesbeth van der Sluijs Veer1, Marlies J E Kempers, Brenda M Wiedijk
1Psychosocial Department, Emma Children's Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands. l.vandersluijsveer@amc.uva.nl
Insights
Children with congenital hypothyroidism (CH) still face motor and cognitive challenges, particularly those with severe cases. Early treatment advancements have not fully mitigated these risks, highlighting the lasting impact of prenatal thyroid hormone deficiency.
Area of Science:
- Pediatric Endocrinology
- Developmental Pediatrics
- Neonatal Screening
Background:
- The Dutch national screening program for congenital hypothyroidism (CH) was established in 1981.
- Treatment protocols for CH have evolved over time.
- Investigating the impact of these changes on neurodevelopmental outcomes is crucial.
Purpose of the Study:
- To determine if advancements in CH treatment have led to improved cognitive and motor outcomes in toddlers.
- To assess the relationship between treatment variables and developmental outcomes.
Main Methods:
- Cognitive and motor development were assessed using the Bayley Scales of Infant Development-II-NL in 95 toddlers with thyroidal CH (CH-T) at 1 and 2 years of age.
- Participants were born between 2002 and 2004 and treated at a median age of 9 days.
- Outcomes were analyzed in relation to CH severity, treatment timing, and initial thyroxine (T4) levels.
Main Results:
- While some CH-T groups showed comparable mental developmental index (MDI) scores to the population mean at 1 and 2 years, the overall CH-T group and severe CH-T group had significantly lower MDI scores at 2 years.
- All severity subgroups exhibited significantly lower psychomotor developmental index (PDI) scores.
- No significant correlation was found between treatment initiation day and developmental outcomes; initial T4 concentration and dose were weak predictors.
Conclusions:
- Children with CH, especially severe cases, remain at risk for motor and cognitive deficits.
- These deficits are likely a consequence of the prenatal hypothyroid state or early-life thyroid hormone deficiency.
- Despite treatment advancements, the long-term neurodevelopmental impact of CH persists.
Objective:
The Dutch neonatal congenital hypothyroidism (CH) screening procedure and treatment modality has been adapted several times since its national institution in 1981. These changes enabled us to investigate whether earlier treatment has resulted in improved cognitive and motor outcomes. The present study examined whether the advancement of treatment modality has resulted in improved cognitive and motor outcomes.
Methods:
In 95 toddlers with thyroidal CH (CH-T), born in 2002 through 2004 and treated at a median age of 9 days, cognitive and motor outcomes were assessed with the Bayley Scales of Infant Development-II-NL at 1 and 2 years of age. This outcome was also analyzed in relation to treatment variables.
Results:
The mean mental developmental index (MDI) scores of the severe (initial free thyroxine [FT4] ≤0.4 ng/dL (≤5 pmol/L), moderate (0.4 < initial FT4 ≤ 0.8 ng/dL (5.0 < initial FT4 ≤ 10.0 pmol/L), and mild (initial FT4 > 0.8 ng/dL (>10.0 pmol/l) CH-T groups at 1 year and the moderate and mild CH-T groups at 2 years were similar to the population mean. The mean MDI scores of the total CH-T group and severe CH-T group at 2 years were significantly lower than the population mean (p < .0001). In all 3 severity subgroups, significant lower psychomotor developmental index scores (p < .0001) were observed. No correlations were found between starting day of treatment and developmental outcome. Initial T4 concentration and initial T4 dose were weak predictors for developmental outcome.
Conclusion:
Essentially, comparable with our earlier findings, children with CH, especially those with severe CH, are still at risk for motor and cognitive problems, which are probably due to the consequence of the prenatal hypothyroid state or the thyroid hormone deficiency in early life.

