Health technology assessment (HTA) is one of the most widely used strategies in the world to support decisions on health technologies. One of the main challenges for health systems is to guarantee equitable access to technologies with proven quality, safety, efficacy, and cost-effectiveness, as well as to ensure that their use is based on high-quality scientific evidence. This study aimed to describe the frequency of thyroid dysfunctions, specifically hypothyroidism, and its correlation with gross motor function in children and adolescents with Down syndrome (DS) followed in a Pediatric Genetic Clinic. Down syndrome or chromosome 21 trisomy is the most common chromosomal disorder in the population and the main cause of intellectual disability in society. Several studies describe thyroid dysfunctions in DS patients, with hypothyroidism being the most frequent, from the neonatal period to puberty, which can aggravate several manifestations already associated with DS during childhood. The assessment of motor function in children and adolescents with DS, using the Gross Motor Function Measure scale (GMFM-88), aims to assist in the definition of therapeutic goals. Method: Cross-sectional clinical study in an intentional sample of children and adolescents with DS, in outpatient care of Genetic Pediatrics, Hospital das Clínicas de Botucatu (HCFMB), aged between 5 months and 15 years of age. Data were collected from patients' electronic medical records, such as birth conditions, past pathological history, demographic data and results of laboratory tests to assess thyroid function, classifying them into clinical and subclinical hypothyroidism, euthyroidism and hyperthyroidism by serum levels of thyroid-stimulating hormone (TSH) and free thyroxine (T4L). According to changes in the neonatal screening test, hypothyroidism was classified as congenital or acquired. The assessment of the gross motor function of these patients was carried out using the GMFM-88 scale. Project approved by the Research Ethics Committee (CEP) of FMB. Results: it was concluded that the advancement of the age range of patients with DS correlates with an improvement in the performance of motor function, despite the presence or absence of thyroid disorder, reflecting the importance of multidisciplinary follow up of these patients, regardless of the age of beginning of this monitoring.
Therefore, the results suggest the incorporation of technologies for early diagnosis and correct therapeutic proposals for children with DS.