PERCEPÇÃO DE PAIS/CUIDADOR DE INDIVÍDUOS COM FENILCETONÚRIA, COM E SEM AUTISMO, ACOMPANHADOS EM SERVIÇO DE REFERÊNCIA EM TRIAGEM NEONATAL

Abstract

Introduction: Phenylketonuria (PKU) as other errors of metabolism are associated to autism. Early diagnosis and treatment prevent the symptoms. Chronic disease occurring at a precocious stage affects the psychic structure and the baby instrumental acquisitions, in real and imaginary plans. Objective: To understand the percetption pf parents/caregiver of individuals with PKU, with and without autism, throughout the psychological accompaniment, in a Newborn Screening Reference Center (SRTN/BA). Methods: exploratory and documental qualitative study. The records of four pairs of siblings with PKU were studied, each one composed by a patient with autism and without autism. In the medical records examined, stands out the reports about: maternal perception, parental and caregiver sister (from one of doubles) on these patients. From the content analysis using NVivo software, we categorized up the selected material, grouping it subsequently into thematic trees. In this paper we will discuss the trees 1) Diagnostic Search; 2) Family functioning, focusing on patients with autism. Results: Three of the patients with autism were born before the National Neonatal Screening Program (PNTN). One patient with autism and his brother held Newborn Screening in another state, in private medical health, with false negative result. Suffering and loss of the idealized son for mothers were ratify. Different phenotypes and the same genetic mutation in one of the pairs were found; mental illness and family dislocation aggravated the symptoms of patients contributing to differences. Final Thoughts: Changes in FAL and the type of mutation do not exhaust the changes on the psychic functioning of patients; interdisciplinary intervention, considering the psychic structure of the subject should be recommended in such cases.