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UCSF Neurogenetic Studies of Autism in Mouse Models

The purpose of these studies is to identify genetic, molecular and cellular mechanisms that control how the forebrain develops in normal and mutant mice. We are particularly interested in studying genes that contribute to autism susceptibility.

Summary

  • Study director: John Rubenstein MD, PhD
  • Sponsor: NIMH, NINDS, and Simons Foundation
  • Official study title: Genetic regulation of forebrain development in mice
  • Purpose: The purpose of these studies is to identify genetic, molecular and cellular mechanisms that control how the forebrain develops in normal and mutant mice. We are particularly interested in studying genes that contribute to autism susceptibility.

Chromosome 16p11.2 Deletion Study

The goal of this project is to convert skin cells from patients with 16p11.2 deletion into neurons and study the growth of these neurons in the lab to understand potential neurodevelopmental effects of this deletion and how they might be corrected.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Chromosome 16p11.2 Study
  • Conditions studied: 16p11.2 deletion, a genetic copy number variation strongly associated with autism features

Autism Trial with Digestive Enzyme CM-AT

This is a Phase 3 clinical trial of CM-AT, pancreatic enzyme, in patients aged 9–12 years with autistic disorder. It is hoped that CM-AT will help improve autistic symptoms through a positive impact on gastrointestinal function.

Summary

  • Study director: Robert Hendren, DO
  • Sponsor: Curemark, LLC
  • Recruiting?: Yes
  • Official study title: An Open-Label Extension Study of LUMINENZ-AT™ (CM-AT) in Children with Autism
  • ClinicalTrials.gov identifier: NCT00881452
  • Conditions studied: Autistic disorder
  • Intervention: CM-AT (pancreatic enzyme) is a pancreatic enzyme and is sprinkled onto food three times daily.

UCSF Sound & Touch Study — ADHD

The purpose of this study is to look at how boys with attention deficit hyperactivity disorder process sound and touch and whether these sensory differences exist on a neurological level.

Summary

  • Study director: Elysa Marco, MD
  • Sponsor: Private Foundation: The Wallace Foundation
  • Recruiting?: Yes
  • Official study title: UCSF Sound & Touch Study
  • Conditions studied: Predictive factors for differences in sensory processing & discrimination in boys with ADHD

Sex Specific Dissection of Autism Genetics

The purpose of this study is to find genes related to autism spectrum disorders that might differ in boys and girls.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH, Simons Foundation Autism Research Initiative
  • Recruiting?: Yes
  • Official study title: Sex specific dissection of autism genetics
  • Conditions studied: Autism spectrum disorders

Frequently Asked Questions (FAQ)

Joining a research trial or study can be a wonderful way for contributing to our knowledge about disorders and their treatment. If you are interested, someone from the clinical trial staff will explain the details of the study, risks and benefits, and your rights as a participant, including your right to withdraw from the study at any point. Once all your questions have been answered, they will ask you to sign an informed consent form to be contacted for research and/or participate in a specific study.

Joining a research trial or study can be a wonderful way for contributing to our knowledge about disorders and their treatment. If you are interested, someone from the clinical trial staff will explain the details of the study, risks and benefits, and your rights as a participant, including your right to withdraw from the study at any point. Once all your questions have been answered, they will ask you to sign an informed consent form to be contacted for research and/or participate in a specific study.

Finding Community

Support groups can be helpful for parents of children with autism spectrum disorders.

Support groups can be helpful for parents of children with autism spectrum disorders.

Many families find these groups most helpful in the first years after diagnosis, when early intervention for the child is essential, and disruption to normal family life is highest. Some greatly benefit from mentoring by a parent of an older child who has already gained some experience. Some parents prefer the relative anonymity of attending large groups and lectures.

Treatment

The best treatment for autism is early, intense, structured and interactive instruction provided by well-trained teachers. But children spend most of their waking hours at home. In order to be effective, any treatment regimen must rely on “special parenting” by informed parents.

The best treatment for autism is early, intense, structured and interactive instruction provided by well-trained teachers. But children spend most of their waking hours at home. In order to be effective, any treatment regimen must rely on “special parenting” by informed parents.

Navigating School Services

When a child with autism goes to school, there are essentially two options: He may be placed in special education classes, or he may be “mainstreamed” with the rest of the children.

When a child with autism goes to school, there are essentially two options: He may be placed in special education classes, or he may be “mainstreamed” with the rest of the children.

Mainstreaming is best understood not as an end in itself but as a means to better learning. It works most effectively when the pupil can be expected to make meaningful educational gains when exposed to a curriculum that is developmentally within his grasp. When this is not done, school aides are often left to run a separate day-to-day program to help the child accommodate to the curriculum.

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