Caracterização clínica de indivíduos em investigação para hiperfenilalaninemias em ambulatórios de referência de Salvador, Bahia

Abstract

Introduction: Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental disorders that can have hyperphenylalaninemia (HPA) as one of its etiology. Since 2001, research for Phenylketonuria (PKU – the main cause of HPA) is part of neonatal screening in the state of Bahia. However, there may be unidentified cases, either by not performing the screening or due to diagnostic failures. ID and ASD have a strong social impact and your etiological investigation is important as a differential diagnosis of HPA, considering the heterogeneity of these conditions and the fact that HPA symptoms are frequent in individuals with ID and ASD. Objectives: To characterize the clinical and epidemiological profile of individuals with ID and ASD followed up at the reference outpatient clinics in Salvador in a etiological investigation for HPA. Methodology: A descriptive, cross-sectional, observational study based on data obtained from medical records and interviews with patients or caregivers at the outpatient clinics of Child Psychiatry and Genetic at the Magalhães Neto outpatient clinic from june 2016 to march 2017. In addition, were collected blood samples for the determination of phenylalanine (Phe) for the investigation of HPA. Results: The sample consisted of 57 individuals, 64,9% with ID and 35,1% with ID and associated ASD. The mean age was 10,5 years (±5). In the population with ID, 78,4% were men and there was consanguinity among the parents in 15,5% of the cases. In the population with TEA, 75% were men and there was no report of consanguinity. The majority of the population in both groups were born in Salvador. There were no individuals diagnosed with HPA. Conclusion: The present study contributed to the clinical description of patients with ID and ASD of unknown etiology in Bahia, data that are scarce in the literature. The absence of identification of patients with HPA can be justified by the low sample and the composition of the sample of individuals who underwent neonatal screening, including prior investigation for HPA.