ETA2024 Oral Presentations Oral Session 8: Pregnancy (5 abstracts)
1University of Pisa, Department of Clinical and Experimental Medicine, Pisa, Italy; 2University of Pisa, Department of Clinical and Experimental Medicine, Pisa
Background: Congenital hypothyroidism (CH) is the most frequent cause of preventable cognitive deficit. With newborn screening program, natural history of this disease has changed thanks to the precocious treatment with levothyroxine (LT4). In a previous study we evaluated psychosocial outcome and quality of life of 62 adults with primary CH diagnosed in the screening era, finding only small differences from controls in concentration ability and mood, while social and work adaptation, autonomy and educational attainment resulted comparable to their healthy peers. Regarding neuropsychological outcome, various studies have shown a possible persistence of subtle cognitive deficit in patients with CH during childhood, but only few data are available about long-term outcome in adult subjects with CH.
Objective: To evaluate neurocognitive performances of adult subjects with CH precociously treated with LT4 through a common non-verbal intelligence test.
Patients and methods: We performed a neurocognitive evaluation in a group of 30 young adults with primary CH by different etiologies (thyroid agenesis, ectopy, in situ thyroid gland) individuated through newborn screening, treated with LT4 within the first few weeks of life and regularly subjected to clinical checks and therapeutic adjustments at the same Centre. Results have been compared with a control group of 28 healthy subjects (with homogeneous distribution of age, sex and family socio-cultural background). The tool used for the evaluation was the Ravens Standard Progressive Matrices test (SPM-38), which is a well-validated culture-fair indicator of abstract reasoning and fluid intelligence.
Results: Data dont show significative differences in the tests scores between patients and controls; dividing patients by timing of LT4 initiation, performances at test still dont result different. Considering severity of CH at birth, patients with FT4 value at diagnosis less than 5 pmol/l obtained slightly lower scores than patients with FT4 higher at birth, but differences are not significative.
Conclusions: Neonatal screening results effective to obtain an adequate neuropsychological development in adult patients with CH early diagnosed and regularly monitored. Deficit in CH correctly treated with LT4 could be subtle and function-specific, which is why the evaluation will be extended to a larger group of subjects using specific neurophysiology tools for certain brain functions.