Down Syndrome, thyroid dysfunctions and motor development: clinical study

• Grant number: 19/01566-4
• Support Opportunities: Regular Research Grants
• Start date: May 01, 2019
• End date: July 31, 2021
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Cátia Regina Branco da Fonseca
• Grantee: Cátia Regina Branco da Fonseca
• Host Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil
• Associated researchers: Marília de Medeiros Couto ; Tamara Beres Lederer Goldberg
• Associated scholarship(s): 19/21458-1 - Down Syndrome, tireoid dysfunctions and motor development: clinical study, BP.TT; 19/16960-0 - Down Syndrome, tireoid dysfunctions and motor development: clinical study, BP.TT

Abstract

Down Syndrome (DS) or trisomy 21 is the most common chromosomal disorder in the population and the main cause of intellectual disability in society. Several studies have described thyroid dysfunctions in individuals with DS, with a reduction in the production of thyroid hormones and a high serum thyroid stimulating hormone (TSH), the most frequent findings from neonatal to puberty, characterizing hypothyroidism. It is known that untreated hypothyroidism can aggravate several manifestations already associated with SD during childhood, such as psychomotor development, somatic growth and cognitive delay itself. The Gross Motor Function Measure (GMFM-88) scale has been validated to assess changes in gross motor function in children with DS since 5 months until 16 years old. This scale aims to organically measure the gross motor function of these children and adolescents to help define therapeutic goals, record changes over time, inform caregivers of progress through the rehabilitation process, and enable the development of scientific research studies in the field . OBJECTIVES: To describe the frequency of thyroid dysfunction and its correlation with gross motor function in a population of children and adolescents with DS followed at the Genetic Pediatrics Outpatient Clinic of Hospital das Clínicas de Botucatu (HC-FMB) and, more specifically, the influence of hypothyroidism. METHODS: A cross-sectional clinical study with children with DS followed in the outpatient clinic, including about 50 infants, children and adolescents, from 5 months to 15 years of age, composing an intentional sample. Data collection of the electronic medical record through the list of the included with DS and follow-up, evaluating their birth conditions, previous pathological history, multidisciplinary follow-up, demographic data and results of laboratory tests for evaluation of thyroid function, which consists of dosage serum TSH levels and free thyroxine (T4L). Also included the evaluation of the Gross motor function of these patients, through the GMFM 88 protocol, performed by physiotherapist qualified to apply the scale protocol tests, using the evaluation instrument translated into Portuguese. Project approved by the Research Ethics Committee (CEP), including the Terms of Consent and Assent. The data obtained will be analyzed statistically and the results will be presented in the form of charts and tables, with dissemination in scientific congresses, elaboration of scientific articles and a protocol of follow-up of these infants, children and adolescents. (AU)