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Friday, March 22, 2013

Looking for a better quality of life for children with autistic spectrum disorders

Autism spectrum disorder is a term used to describe a heterogeneous group of children whose behavioral characteristics overlap with clinical signs and symptoms with different developmental disorders. That’s the reason why currently it is accepted that autism spectrum disorders are due to different etiologies is why ranging from the genetic and phenotypic consistent with molecular bases clinical and genetic complex, which only makes clear that it due to a brain development and atypical behavior.

However, there are significant coexistence between the phenotype of disorders of autism spectrum disorders and multiple genetic disorders, metabolic disorders, neuromuscular disorders muscular dystrophy as Duchene and Becker, tuberous sclerosis, sleep disorders, epilepsy, and other extra neurological problems such as gastrointestinal dysfunction.

In the last 10 years advances in genetics have allowed questioning the current nosological model implicit in the diagnostic manuals since both the categorical nature and comorbidity detected from applications of the diagnostic criteria are unsustainable in the light of the studies that are considering other possible explanations, from genetic aberrations, difficulties peri and post natal the presence of viruses and of course the environmental conditions which with the classical paradigms of a gene for a disease or even a behavior pattern distinctive for each entity are concepts that are restricted to specific cases. 

Hence the list is built under the study of different genes associated from those involved in the remodeling of chromatin and regulation of gene expression, the dynamics of actin in the cytoskeleton, the scaffolding of proteins in the synapse, transporters and receptors, second messengers, molecules for cell adhesion and secretion of proteins.

However, so far, no clinical or biological explanation which characterizes the autism spectrum disorders as Autism phenotype is found in multiple and different types of processes both neurobiological as clinicians so it is difficult to delineate a border between it and all other disorders the development potential that may affect one or more brain functions.

The called triad development involving reciprocal social interaction, communication, and language domains is usually considered, but they must add the level of intelligence that creates borders between typical of Kanner autism disorder and disorder Asperger, same which has been revised in recent months due to its great adaptive capacity.

However, despite all the research, and advances in all fields of medical, psychiatric and Neurosciences, still exist people who take advantage of the desperation and lack of knowledge of parents to sell miracle cures, treatments cognitive behavioral based on inflexible rules that explain without more diffident which and how children with autistic spectrum disorders learn or not.

Currently, different groups are following the idea that parents are the best therapists providing tools for personalized and specific attention and real environments to children on the basis of the idea that there is something like a brain concluded in nature, but it creates prototypes that are modified throughout life with flexible and adaptable connections to the environment.

So this year at April 2nd when the world celebrate the autism day, rather than ask for a cure, (because it is not a disease) or more research, I ask that there are ethical and committed professionals with children and family’s needs and not only the money that some families are willing to offer in desperation.

I also ask that there are professionals that provide scientific information so better accept the differences and we set aside the myth of a brain that works from established rules.

Álvarez, I., y Camacho-Arroyo, I. (2010) Bases genéticas del autismo. Acta Pediátrica Mexicana.31 (1) 22-28

Artigas-Pallarés, J., Guitart, M., y  Gabau-Vila E.  (2013) Bases genéticas de los trastornos del desarrollo. Revista de Neurología. 56 (Supl 1): S23-S34.

Dzib-Goodin, A. (2012) El virus HHV-6 y sus efectos en el neurodesarrollo: un estudio de caso. Revista Mexicana de Neurociencia. 13 (3) 150-153.

Dzib-Goodin, A. (2012) El virus HHV-6 y su relación con los trastornos del desarrollo. Cuadernos de Neuropsicología. 6(2) 86-94.

Dzib Goodin, A. (2013) Programa de neuromodulación ambiental asistida para el tratamiento de trastornos del desarrollo. Available at:

Elder, J. (2013) Empowering families in the treatment of Autism. Recent Advances in Autism Spectrum Disorders. 1 (C15) 321-339.

Guney, E. Iseri, E. (2013) Genetic and environmental factors in autism. Recent Advances in Autism Spectrum Disorders. 1 (C22) 501-518.

Martos-Pérez, J., Freire-Prudencio, S., González-Navarro, A., Llorente-Comí, M., y Ayuda-Pascual, R. (2013) Evolución y seguimiento de los trastornos del espectro autista. Revista de Neurología. 56 (Supl 1): S61-S66.

Tuchman, RF. (2013) Deconstruyendo los Trastornos del Espectro Autista: perspectiva clínica. Revista de Neurología. 56 (Supl 1): S3-S12.

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