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Neurodevelopmental Disorders, Cognitive Function, and Quality of Life in Children with Congenital Hypothyroidism in a
Laura Leite-Almeida1,2, Rita Curval1,2, Inês Pais-Cunha1,2
1Unidade Local de Saúde de São João, Department of Pediatrics, Porto, Portugal
Insights
Children with congenital hypothyroidism (CH) may experience neurodevelopmental deficits and lower quality of life (QoL) despite screening. Early thyroid hormone treatment is crucial for improving cognitive outcomes and QoL in affected children.
Area of Science:
- Pediatric Endocrinology
- Neurodevelopmental Pediatrics
- Quality of Life Research
Background:
- Congenital hypothyroidism (CH) screening reduces severe intellectual disability but doesn't eliminate neurodevelopmental deficits or impact on quality of life (QoL).
- Children with CH remain at risk for cognitive impairments and reduced QoL, necessitating further investigation into their neurodevelopmental profiles.
Purpose of the Study:
- To evaluate cognitive profiles in children with CH.
- To determine the prevalence of neurodevelopmental disorders in this population.
- To assess the QoL of children diagnosed with CH.
Main Methods:
- A longitudinal study was conducted with 46 children diagnosed with CH.
- Cognitive assessments utilized standardized intelligence scales over four time points.
- Neurodevelopmental disorders (ADHD, learning disorders, intellectual disability) were diagnosed per DSM-V criteria; QoL was measured using the PedsQL™.
Main Results:
- Overall IQ scores were within the normative range, but later treatment correlated with lower Performance IQ and Perceptual Organization Index.
- Attention deficit hyperactivity disorder (ADHD) was diagnosed in 26% of children, associated with lower Verbal IQ, Perceptual Organization Index, and school-related QoL.
- While overall QoL was comparable to the general pediatric population, treatment delays were linked to lower total QoL, particularly in emotional and social domains.
Conclusions:
- Early and timely thyroid hormone therapy is critical for mitigating neurocognitive deficits in children with CH.
- Non-verbal deficits can persist even with treatment, highlighting the importance of continuous monitoring and intervention.
- Optimizing treatment timing and management is essential for improving long-term QoL in children with CH.
Objective:
Although neonatal screening programs have reduced severe intellectual disability, children with congenital hypothyroidism (CH) are still at risk for neurodevelopmental deficits and a lower quality of life (QoL). The aim of this study was to evaluate cognitive profiles, prevalence of neurodevelopmental disorders, and QoL in children with CH.
Methods:
A longitudinal study was conducted at the northern reference endocrinology unit for CH in Portugal. Cognitive assessments were performed at four time points using standardized intelligence scales. Diagnoses of attention deficit hyperactivity disorder (ADHD), learning disorders, and intellectual disability were based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition-DSM-V criteria. QoL was measured using the Pediatric Quality of Life Inventory-PedsQL™.
Results:
Forty-six children (mean age 9.1 years, 58.7% female) were included. While overall intelligence quotients (IQ) scores were normal, later treatment was associated with significantly lower performance IQ (r=-0.50, p=0.028) and perceptual organization index (r=-0.57, p=0.022). ADHD was present in 26%, and affected children showed lower verbal IQ (90.2 vs. 106.8, p=0.022), perceptual organization index (79.9 vs. 95.2, p=0.041), and school-related QoL (63.3 vs. 81.6, p=0.002). QoL scores were comparable to the Portuguese pediatric population, but treatment delays were linked to lower total QoL (r=-0.45, p=0.002), particularly in emotional and social domains.
Conclusion:
Early thyroid hormone therapy is essential to mitigate neurocognitive deficits and improve QoL in CH. While severe intellectual disabilities are rare, non-verbal deficits persist, emphasizing the need for timely treatment and continuous monitoring.
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