Diagnósticos diferenciales de trastorno del espectro autista y aporte de ADOS y ADIR-R como herramientas complementarias / Differentials diagnosis of autism spectrum disorders and contribution of ADOS and ADD-R as complementary tools

INTRODUCCIÓN: El diagnóstico de los Trastornos del Espectro Autista (TEA) es clínico y complejo por la dificultad de interpretar los síntomas, las frecuentes comorbilidades, la heterogeneidad clínica y la ausencia de indicadores específicos. Múltiples instrumentos se han desarrollado para su evaluación, destacando la Escala de Observación para el Diagnóstico del Autismo (ADOS) y la Entrevista para Diagnóstico de Autismo, versión revisada (ADI-R); la sensibilidad y especificidad de estos tests es alta, más aún si se utilizan en conjunto. OBJETIVO: Evaluar la utilidad de ADI-R y ADOS como herramientas complementarias para el diagnóstico de TEA, en particular cuando resultan discrepantes del diagnóstico clínico. METODOLOGÍA: Estudio retrospectivo, de revisión de registro clínico de 44 pacientes (36 varones), de edad promedio 6,7 años, por sospecha de TEA entre 6/2015-05/2017. Se aplicó ADI-R+ADOS-2, siendo ciega respecto a la hipótesis clínica inicial. El diagnóstico definitivo se plantea tras el seguimiento de largo plazo (6-58 meses). RESULTADOS: En 37 de 44 pacientes, el diagnóstico clínico inicial fue TEA; en los 7 restantes otros diagnósticos de trastornos del neurodesarrollo y psiquiátricos. ADI-R+ADOS-2 fueron concordantes con el diagnóstico clínico en 39(89%), en 7 descartando y en 32 confirmando el diagnóstico de TEA, añadiendo en estos últimos el grado de severidad. En 5 casos hubo discordancia entre el diagnóstico clínico inicial y los tests; en los 5 casos el especialista planteó TEA y los tests lo refutaron, comprobándose tras la evolución en largo plazo lo planteado por los test en 4 casos y por el clínico en 1 caso. Los más frecuentes diagnósticos diferenciales fueron Trastorno de Comunicación Social, Trastorno por déficit de atención e hiperactividad comórbido con Trastorno del desarrollo de lenguaje y Trastornos ansiosos. CONCLUSIONES: El diagnóstico de TEA debe ser clínico, hecho por un médico especialista que considere una multiplicidad de variables. ADI-R+ADOS2 resultaron herramientas complementarias útiles, particularmente en los casos en que descartaron TEA, instando al equipo tratante a la búsqueda de diagnósticos diferenciales.

INTRODUCTION: The diagnosis of the autism spectrum disorders (ASD) is clinically and complex because of the difficulty of interpreting symptoms, frequent comorbidities, the clinical heterogeneity and the lack of specific indicators. Many instruments have been developed for evaluation, of which we highlight the scale of observation for the diagnosis of autism (ADOS) and the interview for diagnosis of autism, revised (ADI-R); the sensitivity and specificity of these tests is high, even more when they are used together. OBJECTIVE: To evaluate the usefulness of ADI-R and ADOS as complementary tools for the diagnosis of ASD, particularly when they are discrepant from the clinical diagnosis. METHODS: This is a retrospective study, a review of the clinical records of 44 patients (36 male), average age 6.7 years, with a suspicion of ASD between June 2015- May 2017. ADIR+ADOS-2 were applied blindly to the initial clinical hypothesis. The definitive diagnosis is certified after a long-term follow-up (6-58 months). RESULTS: In 37 of 44 patients the initial clinical diagnosis was ASD; in the remaining 7 other psychiatric and neurodevelopmental disorders were diagnosed. ADI-R+ADOS-2 were concordant with the clinical diagnosis in 39 (89%), excluding 7 and in 32 confirming the diagnosis of ASD, adding the degree of severity in the latter. In 5 cases there was discrepancy between the initial clinical diagnosis and tests; in these 5 cases the specialist suspected ASD and the tests disproved it; after the long-term follow-up the test's diagnosis was confirmed in 4 of the 5 cases, and in the remaining case the clinical diagnosis was confirmed. The most frequent differential diagnoses were social communication disorder, attention deficit hyperactivity disorder comorbid with language development disorder, and anxious disorders. CONCLUSIONS: The diagnosis of ASD should be clinical and made by a medical specialist who considers a multiplicity of variables. ADI-R+ADOS2 were complementary tools, particularly in cases in which ASD was rejected, urging the treating team to search for differential diagnosis.

Comparative evaluation of salivary zinc concentration in autistic and healthy children in mixed dentition age group-pilot study

Context: Autism prevalence is increasing, with current estimates at 1/68–1/50 individuals diagnosed with autism. Diagnosis is based on behavioral assessments. Early diagnosis and intervention are known to greatly improve functional outcomes in people with autism. Diagnosis, treatment monitoring, and prognosis of autistic children's symptoms could be facilitated with biomarkers to complement behavioral assessments. Aims: The aim of this study is to compare and evaluate salivary zinc concentration in saliva samples of autistic and healthy children in mixed dentition age group. Settings and Design: Cross-sectional comparative study carried out in dental college and special child school. Unstimulated whole saliva collected for finding a biomarker. Subjects and Methods: Unstimulated whole saliva sample was collected from 10 autistic and 10 healthy children in mixed dentition age group. Diluted saliva sample was then subjected to inductively coupled plasma emission spectroscopy for the estimation of salivary zinc concentration. Statistical Analysis Used: Mann–Whitney U-test. Results: In children with autism salivary zinc concentration showed a linear equation when compared to healthy children. Conclusions: The low salivary zinc concentration in autistic children can reveal the pathogenesis of autism.