درمان هدفمند در اوتیسم و سندرم ایکس آسیب پذیر

Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted as highly heritable, there is no genetic cure at this time. Autism is shown to be linked to several genes and is a feature of some complex genetic disorders, including fragile X syndrome (FXS), fragile X premutation involvement, tuberous sclerosis and Rett syndrome. The term autism spectrum disorders (ASDs) covers autism, Asperger syndrome and pervasive developmental disorders (PDD-NOS) and the etiologies are heterogeneous. In recent years, targeted treatments have been developed for several disorders that have a known specific genetic cause leading to autism. Since there are significant molecular and neurobiological overlaps among disorders, targeted treatments developed for a specific disorder may be helpful in ASD of unknown etiology. Examples of this are two drug classes developed to treat FXS, Arbaclofen, a GABAB agonist, and mGluR5 antagonists, and both may be helpful in autism without FXS. The mGluR5 antagonists are also likely to have a benefit in the aging problems of fragile X premutation carriers, the fragile X-associated tremor ataxia syndrome (FXTAS) and the Parkinsonism that can occur in aging patients with fragile X syndrome. Targeted treatments in FXS which has a well known genetic etiology may lead to new targeted treatments in autism.

Autism spectrum disorders (ASDs) are common and occur in about 1% of the general population (Baron-Cohen et al., 2009). Although behavioral interventions at a young age are significantly helpful in children with ASD (Dawson et al., 2010), there are no pharmacological cures for these very impairing conditions that affect social interaction, communication, and behavioral domains. The etiology of autism is heterogeneous and may include genetic, environmental, and autoimmune etiologies (Levy, Mandell, & Schultz, 2009).

There is still continuing need for more effective treatments in autism for both core and behavioral symptoms. The lack of molecular information for many types of autism has slowed down the development of targeted treatments for this heterogeneous group of disorders. FXS has been helpful for leading the way for targeted treatment in autism because of the molecular similarities between FXS and some types of autism (Wang, Berry-Kravis, & Hagerman, 2010). As targeted treatments are developed for other known genetic ASDs, such as Tuberous Sclerosis including mTOR inhibitors (de Vries, 2010), this may guide further treatments for idiopathic autism. These targeted treatments in other disorders with a well known genetic etiology, including FXS, may be a good starting point for targeted treatments in autism. Some may argue that ASDs seen in these genetic disorders may represent different classes of ASDs; therefore their treatment may be different from idiopathic autism cases. Nevertheless, whatever the genetic etiology of the autism, the number of targeted treatment studies in autism warrant further exploration, and they may lead to identification of new pathways and mechanisms for more of the unknown cases. The development of specific molecular biomarkers for different pathways may also be helpful for designating a specific targeted treatment for many cases. There is much more to be done to develop effective treatments for all of the cause of ASDs.