Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

ABSTRACT Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

Vivência de mães após o diagnóstico pré-natal de fissura labiopalatina / Experience of mothers after prenatal diagnosis of cleft lip and palate / Experiencia de vida después del diagnóstico prenatal de la fisura labiopalatina

O objetivo do estudo foi conhecer a vivência de mães desde o diagnóstico pré-natal da fissura labiopalatina, até o nascimento de seus filhos. Com base em uma abordagem qualitativa, foram entrevistadas nove mães de bebês que tiveram o diagnóstico de fissura labiopalatina ao se submeterem à ultrassonografia como parte dos exames de rotina para acompanhamento do desenvolvimento do feto. Os dados foram analisados de acordo com a Análise de Conteúdo, o que permitiu a identificação de quatro eixos temáticos: recebendo o diagnóstico; vivência do período pré-natal; vivência na maternidade; e a importância do diagnóstico pré-natal. Foi possível identificar o papel fundamental dos profissionais de saúde nas contingências de maior impacto: momento do diagnóstico, consultas pré-natais, busca por centro especializado e maternidade. As mães revelaram que o diagnóstico intrauterino foi importante e que as condutas dos profissionais são determinantes nessa trajetória, para garantir o acesso aos benefícios da descoberta precoce.

The study aimed to know the experience of mothers from the prenatal diagnosis of cleft lip and palate to the birth of their children. Based on a qualitative approach, we interviewed nine mothers of babies diagnosed with cleft lip and palate when undergoing ultrasound as part of routine examinations to monitor fetal development. We analyzed the data according to Content Analysis, which allowed the identification of four thematic axes: receiving the diagnosis, prenatal experience, experience in motherhood, and the importance of prenatal diagnosis. It was possible to identify the fundamental role of health professionals in the most impacting contingencies: time of diagnosis, prenatal consultations, search for a specialized center, and maternity. Mothers revealed that intrauterine diagnosis was important and that professionals' behaviors are crucial in this trajectory to ensure access to the benefits of early discovery.

El objetivo del estudio fue conocer la experiencia de las madres desde el diagnóstico prenatal de la fisura labiopalatina, hasta el nacimiento de sus hijos. Sobre la base de un enfoque cualitativo, entrevistamos a nueve madres de bebés diagnosticados con fisura labiopalatina cuando se sometieron a una ecografía como parte de los exámenes de rutina para controlar el desarrollo fetal. Los datos se analizaron de acuerdo con el Análisis de Contenido, que permitió la identificación de cuatro ejes temáticos: recibir el diagnóstico; experiencia prenatal; experiencia en maternidad; y la importancia del diagnóstico prenatal. Fue posible identificar el papel fundamental de los profesionales de la salud en las contingencias más impactantes: tiempo de diagnóstico, consultas prenatales, búsqueda de un centro especializado y maternidad. Las madres revelaron que el diagnóstico intrauterino era importante y que los comportamientos de los profesionales son cruciales en esta trayectoria, para garantizar el acceso a los beneficios del descubrimiento temprano.