Os primeiros mil dias de vida da criança com doença rara: Uma revisão de escopo

Abstract

The first thousand days correspond to the period from gestation until the end of the second year of life and are recognized as critical for child development. A balanced diet, stimulation, adequate interaction and access to basic health services are essential. However, children with rare diseases, a diverse group of generally chronic and low-frequency pathological conditions in the population, experience barriers in accessing healthcare. Therefore, the aim of this scoping review was to systematically map research conducted on the first thousand days of children with rare diseases, as well as to identify existing knowledge gaps. The following research question was formulated: what is known from the literature about the first thousand days of children with rare diseases, the challenges and difficulties faced by parents and/or caregivers of children with rare diseases regarding overall and oral health? Accordingly, the scoping review included qualitative studies with parents/caregivers of children with rare diseases published between 2013 and 2023 in the SCIELO, Biblioteca Virtual em Saúde (VHL), and MEDLINE®/PubMED® databases, in Portuguese and English languages. A total of 3,136 articles were identified, with three studies selected to compose this review. No studies were found regarding the first thousand days of life for children with rare diseases. The three identified studies were synthesized and categorized into three main themes: parents' experiences regarding support information from healthcare services, the quality of life and functioning of primary caregiver families, and adequate dental care in the context of rare diseases. Although there is a high number of studies on rare diseases, little is known about the first thousand days of children with rare diseases, with several knowledge gaps. Primary parents and/or caregivers face various challenges and difficulties in seeking medical and dental assistance, with a direct impact on their quality of life and family functioning.