Performance of a group of 35 youth and adults with High-Functioning Autism (HFA) was compared with a typical developing (TD) group on three Advanced Theory of Mind tests. The distinction between the social-cognitive and social-perceptual components of Theory of Mind was also explored. The HFA group had more difficulties in all tasks. Performance on the two social-cognitive tests was highly correlated in the HFA group, but these were not related with the social-perceptual component. These results suggest that the youth with HFA have difficulties on all the components of social knowledge but may be using different underlying cognitive abilities depending on the nature of the task.
Autism spectrum disorders (ASD) comprise neurodevelopmental disorders with clinical onset during the first years of life. The identification of peripheral biomarkers could significantly impact diagnosis and an individualized, early treatment. Although the aetiology of ASD remains poorly understood, there is increasing evidence that neurotrophins and their receptors represent a group of candidate genes for ASD pathophysiology and biomarker research. Total messenger RNA (mRNA) from whole blood was obtained from adolescents and adults diagnosed as ASD (n = 21) according to DSM-IV criteria and confirmed by the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R) algorithms, as well as healthy controls (n = 10). The mRNA expression of neurotrophins (BDNF, NT3 and NT4) and their receptors (TrkA, TrkB and p75 (NTR) ) was determined by quantitative real-time polymerase chain reaction (qRT-PCR). Moreover, social cognition abilities of ASD patients and controls were determined according to three Theory of Mind (ToM) tests (Reading the Mind in the Eyes, Faux pas, and Happé stories). The NT3 and NT4 mRNA expression in the whole blood was significantly lower in ASD compared to healthy controls, while p75(NTR) was higher (P < 0.005). In addition, lower scores in three of the ToM tests were observed in ASD subjects compared to controls. A significant (P < 0.005) ToM impairment in Happé stories test was demonstrated in ASD. Nevertheless, no correlations were observed between neurotrophins and their receptors expressions and measures of ToM. Given their potential as peripheral blood-based biomarkers, NT3, NT4 and p75 (NTR) mRNA expression patterns may be useful tools for a more personalized diagnostics and therapy in ASD. Further investigations with larger numbers of samples are needed to verify these results.
RESUMEN: Los trastornos del espectro autista representan uno de los retos más importantes de la psiquiatría actual. A pesar de los importantes avances diagnósticos y de tratamiento para esta población en edad infanto-juvenil, existe escasa literatura sobre la evolución y el tratamiento de estos pacientes en la etapa adulta. PALABRAS CLAVE: trastorno autístico; adulto; terapia; evolución clínica.ABSTRACT:Autism spectrum disorders are one of the most important challenges of current psychiatry. Despite the significant progress on diagnosis and treatment of these patients during childhood stages, little is known about the course and treatment of these patients during adulthood. KEY WORDS: autistic disorder; adult; therapy; clinical evolution.
Segundo Premio del I Concurso de Casos Clínicos para Residentes AEN.
Caso ClínicoSe trata de una paciente de 18 años, diagnosticada (DSM-IV-TR) de Fobia social y Trastorno dependiente de la personalidad, derivada desde el Servicio de Salud Mental Infanto-Juvenil (CSMIJ) para seguimiento en el servicio de adultos, que acude acompañada por su madre.Es la mayor de dos hermanas. Padres separados. Vive con la madre y la hermana. Durante su infancia destaca déficit de atención y mal rendimiento académico sin repetir curso. En el momento actual comienza a cursar un módulo superior y colabora en el negocio familiar. Como antecedentes médicos de interés, destaca un retraso en el crecimiento aislado que requirió tratamiento con hormona del crecimiento (GH) de los 12 a los 17 años. Intolerancia a la fructosa asociada a sangrados digestivos e intolerancia a la lactosa. En la infancia se realiza examen genético, sin observarse ninguna alteración genética, ni numérica ni estructural. Niega consumo de tóxicos. Entre los antecedentes psiquiátricos familiares la madre refiere sintomatología ansio-
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