PERFIL CLÍNICO E DIAGNÓSTICO DE PACIENTES COM DEFICIÊNCIA INTELECTUAL E TRANSTORNO DO ESPECTRO AUTISTA ASSISTIDOS EM SERVIÇO DE ATENÇÃO TERCIÁRIA EM SAÚDE DE GOIÁS

Abstract

Introduction: Intellectual disability (ID) and autism spectrum disorder (ASD) frequently coexist, sharing characteristics that affect cognition, communication, and social adaptation. This overlap requires careful diagnosis and personalized interventions to improve the quality of life and development of those affected. Objective: To understand and characterize ASD in a population of patients with ID, contributing to the acquisition of medical and scientific knowledge through research, generating benefits for patients and professional specialization. Materials and Methods: This is an observational, retrospective, and descriptive study based on the analysis of electronic medical records of patients clinically diagnosed with Intellectual Disability (ID) treated at the Centro Estadual de Reabilitação e Readaptação (CRER). A total of 301 electronic records of patients diagnosed with ID were analyzed. After excluding 52 records due to lack of relevant information, the final sample consisted of 249 patients. Results: The sample comprised 249 records. It was not possible to determine the age of diagnosis due to the absence of clear records. The patients came from 55 municipalities in the state of Goiás, with a predominance of Goiânia (62%) and Aparecida de Goiânia (5.5%), together representing 67.6% of CRER's demand. The male-to-female ratio was 2:1. Only 32.9% of the records addressed parental consanguinity, and 7 patients reported consanguinity. Most patients were of school age (67.4%). There was no statistically significant difference in age distribution between sexes (p = 0.624). 98% of patients were seen by neurology, and 33.7% were also followed by medical genetics; however, only 9.5% of the cases were referred for genetic counseling—a significantly lower rate than expected (p=0.0002). About 40.6% of patients initially diagnosed with ID received a confirmed ASD diagnosis. The diagnostic rate between neurology and medical genetics was only 15.8%. Among the patients diagnosed with ASD, 35.6% underwent at least one genetic test, and 39.4% had a dysmorphological physical examination. Conclusion: The study highlighted structural and care-related limitations in diagnosing mild intellectual disability, with consequences of delayed diagnosis during school age. It underscores the need for early diagnostic strategies, expanded access to specialized services, and between primary care and medical genetics. The diagnostic complexity of ID and its overlap with ASD emphasize the importance of systematically incorporating phenotypic and genotypic testing. Thus, it is urgent to revise institutional protocols and train professionals for more accurate diagnoses, appropriate clinical management, and effective genetic counseling, promoting inclusion, comprehensive care, and autonomy for patients and their families