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Diagnosis and treatment of autism spectrum disorders

A technology of autism and pedigree, applied in the direction of neurological diseases, biochemical equipment and methods, microbial measurement/testing, etc., can solve problems such as ASD susceptibility

Inactive Publication Date: 2012-02-08
MASSACHUSETTS INST OF TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Current estimates are that many genes interact with each other and with environmental factors to contribute to ASD susceptibility

Method used

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  • Diagnosis and treatment of autism spectrum disorders
  • Diagnosis and treatment of autism spectrum disorders
  • Diagnosis and treatment of autism spectrum disorders

Examples

Experimental program
Comparison scheme
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Embodiment 1

[0161] Example 1: Pten and serotonin transporter haploinsufficiency jointly affect brain size and social behavior

[0162] Materials and methods

[0163] Animals: The strain used was B6.129-Pten tm1Rps (13) (from National Cancer Institute, Frederick) and B6.129-Slc6a4 tm1Kpl (23) (from Taconic). At their respective institutions, each line was crossed to a C57BL / 6 background for 10 generations to achieve congenicity. We obtained mice for this study through two matings: Pten + / - ;Slc6a4 + / + ×Pten + / + ;Slc6a4 + / + mice to produce Pten + / + ;Slc6a4 + / + ("wild type") and Pten + / - ;Slc6a4 + / + (“Pten haploinsufficient”) mice, and Pten + / - ;Slc6a4 + / + ×Pten + / + ;Slc6a4 - / - mice to produce Pten + / + ;Slc6a4 + / - ("Slc6a4 haploinsufficiency") and Pten + / - ;Slc6a4 + / - ("Pten and Slc6a4 haploinsufficiency") mice. We found that due to Pten + / - ;Slc6a4 + / - High mortality in mice during embryonic and early postnatal periods, this method is more effective than Pten + / - ×Slc6...

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Abstract

The invention relates to methods for diagnosis and treatment of autism spectrum disorders, particularly for autism spectrum disorders characterized by increased head size (circumference) and deficits in social behavior.

Description

[0001] related application [0002] This application claims the benefit under 35 U.S.C. §119(e) of U.S. Provisional Application Serial No. 61 / 145,294, filed January 16, 2009, the disclosure of which is incorporated herein by reference in its entirety. field of invention [0003] The present invention relates to methods for diagnosing and treating autism spectrum disorders, in particular, methods for diagnosing and treating autism spectrum disorders characterized by increased head size (circumference) and deficits in social behavior. Background of the invention [0004] Autism spectrum disorders (ASD) are highly heritable, with a 2-3% recurrence rate among siblings and a 60-90% concordance rate among identical twins. However, known genetic causes (eg, monogenic disorders such as Fragile-X or Tuberous Sclerosis, or chromosomal abnormalities) account for approximately 10% of ASD cases. Thus, the majority of ASD cases are currently of unknown etiology. Current estimates are th...

Claims

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Application Information

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IPC IPC(8): C12N15/09G01N33/53
CPCA61K31/138A61K31/403A61K31/435A61K31/444A61K31/517A61K31/519A61K31/5513A61P25/00A61P25/18A61P25/28A61P43/00C12N15/1136C12N15/1138C12N2310/14C12Q1/6883C12Q2600/156A61K31/505A61K31/551C12N15/09G01N33/53
Inventor 达蒙·西伦·佩奇姆里甘卡·苏尔
Owner MASSACHUSETTS INST OF TECH