RESUMO
La hiperplasia suprarrenal congénita (HSC) es un trastorno genético que produce déficit en la síntesis del cortisol. Esta enfermedad se presenta en ambos géneros, puede ser diagnosticada prenatalmente y recibir tratamiento desde esta etapa. A nivel fisiológico presenta ambigüedad en los órganos sexuales internos y externos que afectan el desarrollo emocional y social. En el nivel cognitivo se pueden encontrar dos posturas una donde se afirma que en pacientes con HSC se presentan puntuaciones bajas en el Coeficiente Intelectual (CI), especialmente en el (CI)verbal y diferencias significativas en pacientes que no han recibido tratamiento a tiempo, la otra considera que esta enfermedad no afecta los procesos cognitivos. En el presente artículo se realiza un estudio de caso único de un adolescente de 13 años con HSC, con el objetivo de describir el perfil cognitivo de un adolescente con hiperplasia suprarrenal congénita y compararlo con los estudios existentes en la actual literatura. Se obtuvo un perfil cognitivo por medio de diferentes pruebas neuropsicológicas, encontrando en el paciente un retardo mental moderado CI 50 y alteraciones importantes del lenguaje y del aprendizaje.
Congenital adrenal hyperplasia (CAH) is a genetic disorder that causes deficits in the synthesis of cortisol. This disease occurs in both genders, it can be diagnosed prenatally and treated from this stage. Physiologically presents ambiguity in the internal and external sex organs that affect the emotional and social development. In the cognitive level can be found two positions one where it is stated that in patients with CAH low scores are presented on IQ (IQ), especially (IQ) verbal and significant differences in patients who have not received treatment in initially time, the other believes that this disease does not affect cognitive processes. In this paper, a single case study of a 13-year HSC is performed in order to describe the cognitive profile of a teenage boy with congenital adrenal hyperplasia and compared with existing studies in the current literature. a cognitive profile was obtained through different neuropsychological tests, finding the patient moderate mental retardation (5Congenital adrenal hyperplasia (CAH) is a genetic disorder that causes deficits in the synthesis of cortisol. This disease occurs in both genders, it can be diagnosed prenatally and treated from this stage. Physiologically presents ambiguity in the internal and external sex organs that affect the emotional and social development. In the cognitive level can be found two positions one where it is stated that in patients with CAH low scores are presented on IQ (IQ), especially (CI) verbal and significant differences in patients who have not received treatment in time, the other believes that this disease does not affect cognitive processes. In this paper, a single case study of a 13-year HSC is performed in order to describe the cognitive profile of a teenage boy with congenital adrenal hyperplasia and compared with existing studies in the current literature. a cognitive profile was obtained through different neuropsychological tests, finding the patient moderate mental retardation and (50 IQ) with major disorders in language and learning.
RESUMO
O diagnóstico precoce é sempre um forte aliado na terapêutica de qualquer patologia, inclusive em casos de retardo mental. Assim, pode-se planejar uma intervenção mais adequada e efetiva, viabilizando a inserção social do indivíduo. O objetivo deste estudo é observar o quadro de Dificuldades de Aprendizagem como manifestação de Retardo Mental em dois irmãos gêmeos de 5 anos e 7 meses, cursando o Estágio II (série que antecede o Ensino Fundamental em dois anos) de uma escola de rede pública de ensino de São Paulo. Para a sua elaboração foram aplicados, nas crianças, testes do desenvolvimento em várias áreas e um teste de inteligência, e realizadas entrevistas dirigidas com sua mãe e suas professoras. Desta forma, dispusemos de informações acerca do desenvolvimento motor, psicológico e social dos gêmeos, as quais possibilitarão o acompanhamento dos quadros de maneira mais próxima do ideal.
The early diagnosis is always a strong allied in the therapy of any pathology, including cases of mental retard. This way, a more appropriate and effective intervention can be planned, favouring the individual's inclusion on the society. The objective of this study is to observe cases of learning difficulties as a manifestation of mental retard in two twin siblings 5 years, 7 months old, coursing the Stage II (grade that precedes the fundamental education in two years) of a public school of São Paulo, Brazil. In order to conduct this study, development tests in several areas and intelligence tests were applied in the children, and interviews were conducted with their mother and teachers. This way, we got information about the motor, psychological and social development of the siblings, making it possible to accompany these cases closer to the ideal way.