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The pharmacognetics of treatment for insistence sameness in autism  

Insistence on sameness (IS) is a common and particularly troublesome feature of ASD, and IS has been hypothesized to be due to serotonergic dysmodulation in this population. Many patients with ASD and IS benefit from treatment with medications that affect serotonin, in particular the selective serotonin reuptake inhibitors (SSRIs); however, there is little information available about which particular IS symptoms respond to SSRIs, or which patients might be better candidates based on presenting symptoms or genetic variation. This pharmacogenetic study provides an opportunity to explore these questions through empirical measurement of clinical response of IS symptoms to an SSRI (escitalopram), and comparison of these differences in response to genetic variation in the promoter region (5-HTTLPR) of the serotonin transporter gene (SLC6A4) and in the second intron of the serotonin 2A receptor gene (HTR2A). Specific Aim #1: Is there a significant difference in degree of therapeutic response on symptoms of IS to escitalopram in children and adolescents with autism 5 to 35 years of age as a function of allelic variation of 5-HTTPLR? Based on preliminary data, it is hypothesized that subjects with long/long genotype or long/short genotype (not-SS) will have a superior response to those with those with short/short genotype (SS group). Specific Aim #2: Is there a significant difference in degree of therapeutic response on symptoms of IS to escitalopram in children and adolescents with autism 5 to 35 years of age as a function of allelic variation of the HTR2A? It is hypothesized that subjects with single nucleotide polymorphism (SNP) rs7997012 in the second intron of the HTR2A will have a superior response to those with those without this SNP.

2008

Funder National Institutes of Health
Fiscal Year Funding $377,097.00
Project Number P50HD055751-02
Principal Investigator Owley, Thomas
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Interventions)
Strategic Plan Objective Yellow dot: Objective has some degree of funding, but less than the recommended amount. 4.8 Complete at least three randomized controlled trials on medications targeting core symptoms in people with ASD of all ages by 2014. IACC Recommended Budget: $22,200,000 over 5 years.
Federal or Private? Federal
Institution University of Illinois at Chicago
State/Country Illinois
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