Study Procedures

If you decide to enter the study we will ask you to participate in the following activities:

1. 1. We will ask you to sign release forms that allow us to obtain copies of the medical record of you and of any assessments and/or interviews that were carried out as part of any research study that you may have participated in. More specifically we would like to obtain copies of the Autism Diagnostic Interview and/or the Autism Diagnostic Observation Schedule as well as of any assessments of the cognitive abilities of you. In addition we would ask you to give us access to the results from any genotyping.
   

2. 2.In the case that the results from the Autism Diagnostic Interview cannot be made available to us we will ask you to answer questions about you regarding their medical history, behavior, and learning, including topics such as language abilities, friendship, and behavior problems. A trained staff member will be conducting this interview with you. We administer the interview only one time. The interview will take about 1 ½ - 2 hours. You do not have to answer any questions during the interview, that you do not wish to answer
   

3. 3.In the case that the results from the Autism Diagnostic Observation Schedule cannot be made available to us we will give you a test to measure language abilities, social skills and behaviors. These tests include activities like puzzles, paper and pencil tasks, answering questions, as well as play activities.  A trained staff member will be conducting the tests. We administer the tests only one time. The tests will take about  ½ - 1 hour. You do not have to answer any questions or complete any tasks during the assessments, that you do not wish to answer.
   

4. 4.We will ask for a skin sample from you. The skin sample is obtained by a process called a "punch biopsy".  In this procedure, a small area of skin on the thigh or arm is thoroughly cleaned and injected with xylocaine, a local anesthetic.  When the skin is numb, a small round blade of three millimeters (one-eighth of an inch) in diameter is pressed into the skin, creating a circular cut approximately one eighth inch deep.  This round piece of skin is then removed, pressure is applied to stop bleeding and the resulting hole in the skin covered with a sterile bandage. In some cases one or two stitches are required to close the wound. The xylocaine anesthetic may sting for several seconds during the injection; afterwards, the punch biopsy should cause no discomfort.  The biopsy takes about ten minutes to perform, including time for cleaning and preparation.  The wound heals within three days. A punch biopsy will result in minor scarring at the biopsy site. We will only ask once for a punch biopsy
   

5. 5.We will also request a cheek swab and a sample of blood.  The cheek swab is collected with a small sterile brush and only takes a second or two.  A small tube of blood will be drawn from your arm and this will take about five minutes.  You will feel a small prick when the needle is placed in your arm.  Both of these procedures are very safe.
   

Risks, Discomforts and Inconveniences

There are risks, discomforts, and inconveniences associated with any research study.  These deserve careful thought.  You should talk to us if you have any questions.

The evaluations and assessments used in this study may include questions that are personal that may make you and/or your family feel uncomfortable or upset.  Some questions are of a sensitive nature.  You have the right to refuse to answer any individual questions. 

You will also be asked to provide a skin biopsy.  In spite of all precautions, you might develop medical complications from the skin biopsy. There is less than one percent chance of local infection or serious bleeding as a result of the punch biopsy.  In the unlikely event that this should occur, it is easily treated and you will be given access to prompt medical attention.

Another risk is an allergic reaction due to the local anesthetic. It is very important to let the doctor know, whether you have any allergies, especially allergies against any medications.

Also, you may experience discomfort, bruising, and/or other bleeding at the site where the needle is inserted.  Sometimes people get dizzy or feel faint.  If you have had a history of feeling faint when their blood is drawn and/or an injection is given, please let the doctor know before they begin the skin biopsy. 

We will also ask you to travel to Stanford University to have the skin biopsy done, which may be inconvenient for you. We will attempt to schedule appointments for assessment at times that minimize loss of time from the child's school schedule and caregiver's work. In the case that the doctor will close the wound with stitches, you may have to return to the Stanford University to have the stitches removed.

Finally any procedure may involve risks, which are currently unforeseeable.

Benefits

There is no direct benefit to the participants in the study.  We hope that this study will help us understand the underlying causes of autism and other disorders and will allow us to develop tools to treat children in the future.