[Functional adaptation and disorders of the autistic spectrum]. / Adaptación funcional y trastornos del espectro autista.

Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviors; 30% of the cases diagnosed with ASD have intellectual disability and 2/3 an intellectual capacity within the norm. Although cognitive ability is related to better functional adaptation, however, the vast majority of people with ASD in adulthood have limited autonomy and are dependent on adults. In this article we review the concept of functional adaptation, its relationship with ASD, factors that influence a better functional adaptation, how to evaluate it and implications for treatment. Functional adaptation in ASD is an essential concept, related to prognosis. The knowledge of the factors involved in the functional adaptation and its measure will facilitate the incorporation of very relevant aspects for treatment.

Los trastornos del espectro autista (TEA) son trastornos del neurodesarrollo que afectan la comunicación social y presentan conductas estereotipadas. Un 30% de los casos diagnosticados con TEA tienen discapacidad intelectual y 2/3 una capacidad intelectual dentro de la norma. Aunque la capacidad cognitiva esta relacionada con una mejor adaptación funcional, sin embargo la gran mayoría de las personas con TEA en edad adulta tienen una limitada autonomía y son dependientes de los adultos. En este artículo se revisa el concepto de adaptación funcional, su relación con el TEA, factores que influyen en una mejor adaptación funcional, como evaluarla y implicaciones para el tratamiento. La adaptación funcional en TEA es un concepto esencial, relacionado con el pronóstico. El conocimiento de los factores implicados en la adaptación funcional y la medida de ellas, facilita la incorporación de aspectos muy relevantes en el tratamiento.

Adaptación funcional y trastornos del espectro autista / Functional adaptation and disorders of the autistic spectrum

Los trastornos del espectro autista (TEA) son trastornos del neurodesarrollo que afectan la comunicación social y presentan conductas estereotipadas. Un 30% de los casos diagnosticados con TEA tienen discapacidad intelectual y 2/3 una capacidad intelectual dentro de la norma. Aunque la capacidad cognitiva esta relacionada con una mejor adaptación funcional, sin embargo la gran mayoría de las personas con TEA en edad adulta tienen una limitada autonomía y son dependientes de los adultos. En este artículo se revisa el concepto de adaptación funcional, su relación con el TEA, factores que influyen en una mejor adaptación funcional, como evaluarla y implicaciones para el tratamiento. La adaptación funcional en TEA es un concepto esencial, relacionado con el pronóstico. El conocimiento de los factores implicados en la adaptación funcional y la medida de ellas, facilita la incorporación de aspectos muy relevantes en el tratamiento.

Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviors; 30% of the cases diagnosed with ASD have intellectual disability and 2/3 an intellectual capacity within the norm. Although cognitive ability is related to better functional adaptation, however, the vast majority of people with ASD in adulthood have limited autonomy and are dependent on adults. In this article we review the concept of functional adaptation, its relationship with ASD, factors that influence a better functional adaptation, how to evaluate it and implications for treatment. Functional adaptation in ASD is an essential concept, related to prognosis. The knowledge of the factors involved in the functional adaptation and its measure will facilitate the incorporation of very relevant aspects for treatment.

The involvement of serotonin polymorphisms in autistic spectrum symptomatology.

BACKGROUND: Autism spectrum disorders (ASD) are highly inherited developmental syndromes, resulting from a complex interaction between environmental and genetic factors. To date, only a limited number of genetic variants have been discovered with respect to autism, and their contribution to the development of the disorder has not been clearly determined. Investigation of specific autistic symptomatology may improve the chances of identifying related genes and may help to better understand these disorders. MATERIALS AND METHODS: We investigated the contribution of 80 genetic variants in 15 serotonin genes to ASD phenotypes [intelligence quotation (IQ), intellectual disability (ID) and language onset delay (LD)] in a cohort of 141 children and young adults (121 male patients and 20 female patients, average age 14.5±5.1 years). RESULTS: Two polymorphisms in the HTR2B gene, rs10194776 and rs16827801, were associated with IQ (P=0.0004 and 0.003, respectively), ID (P=0.02 and 0.03) and LD (P=0.04 and 0.004). Nominal associations were also detected between the ASD phenotypes investigated and 5-HT2A, 5-HT4 and 5-HT6 genetic variants. CONCLUSION: Our study provides evidence of the contribution of serotonergic variants to IQ, ID and LD in ASD patients.