Related Experiment Videos
Neuropsychological follow-up in early-treated congenital hypothyroidism: a problem-oriented approach
S Bargagna1, G Canepa, C Costagli
1Division of Child Neurology and Psychiatry, University of Pisa-IRCCS Stella Maris, Italy. bargagna@inpe.unipi.it
Insights
Early treatment of congenital hypothyroidism (CH) improves outcomes, but some children still experience motor and language deficits. Focused follow-up is crucial for early intervention in affected children.
Area of Science:
- Pediatric Endocrinology
- Neurodevelopmental Pediatrics
- Genetics and Rare Diseases
Background:
- Screening programs for congenital hypothyroidism (CH) have significantly improved neuropsychological outcomes.
- However, subtle cognitive, motor, and language impairments persist in some early-treated CH children, necessitating ongoing monitoring.
- Identifying specific neurodevelopmental functions at risk is essential for timely intervention.
Purpose of the Study:
- To pinpoint neuropsychological functions most frequently affected in early-treated CH children.
- To determine which functions require prompt rehabilitation to prevent permanent deficits.
- To guide a targeted, efficient follow-up strategy for CH patients.
Main Methods:
- A cohort of 24 CH children receiving early levothyroxine (LT4) treatment was studied.
- Neuropsychological evaluations were conducted at ages 3, 5, and 7 years.
- Neurological scores and specific functions like balance, coordination, and language were assessed, comparing severe vs. less affected CH cases and controls.
Main Results:
- Cognitive evaluations at 3, 5, and 7 years showed no significant differences from controls.
- Neurological scores were lower in 5-year-old CH children compared to controls.
- Children with severe neonatal hypothyroidism exhibited significantly lower neurological scores, with motor skills (balance, coordination, fine motricity) and language being most affected.
Conclusions:
- Routine, extensive psychometric testing is not necessary for all early-treated CH children, as IQ scores are generally within the normal range.
- Selected motor proficiency tests at ages 3 and 5 are recommended to identify specific motor deficits.
- Language development requires consistent monitoring at ages 3 and 5, with prompt rehabilitation for any identified disorders.
Abstract:
Screening programs for congenital hypothyroidism (CH) dramatically improved the neuropsychological prognosis in affected children. However, mild impairments in cognitive performances, poorer motor skills, defective language abilities, and learning problems have been reported in some studies of early-treated CH children. The occurrence of these defects makes neuropsychological follow-up mandatory. The aim of the present study was to identify those neuropsychological functions that are more frequently affected in early-treated CH children and that might require prompt rehabilitation treatment to prevent permanent defects. The study group involved 24 CH children. Levothyroxine (LT4) treatment (initial dose 8-10 microg/kg per day) was started at mean age of 28 days (range 15-45) and was then adjusted with the goal to keep thyrotropin (TSH) and free thyroid hormone levels in the normal range. Cognitive evaluation was performed at 3, 5, and 7 years of age and did not significantly differ from that of controls. Mean neurological scores were lower in children 5 years of age than in controls. Children with severe neonatal hypothyroidism (serum thyroxine [T4] < 2 microg/dL) had significantly lower neurological scores compared to less affected CH children and normal controls. The most affected functions were balance, extremity coordination, fine motricity, quality of movements, associated movements, and head movements. Language disorders were observed in half of CH children at 3 and 5 years of age, but moderately severe defects were restricted to those with severe neonatal hypothyroidism. In conclusion, a problem-oriented, simplified neuropsychological follow-up of early-treated children with CH should not systematically include the frequent repetition of time-consuming and expensive psychometric tests because individual IQ scores are in the normal range of tests in almost all CH children and can be differentiated from those of normal controls only on a population-statistic basis. Selected tests of motor proficiency are indicated at 3 and 5 years of age to detect those defects in motor skills that appear to be more specifically affected in CH children. Language performances are at particular risk in CH children, and should be always checked at 3 and 5 years of age. Children with even mild language disorders or delayed language achievements should be regularly reevaluated at 6-month intervals and, if no spontaneous improvement is observed, they should receive specific rehabilitation treatment. No further motor and language evaluation is warranted in CH children with normal tests at age 5 years.