How to participate in this study

Steps:

  • Your child has been diagnosed with Autism Spectrum Disorders by a pediatrician, neurologist or geneticist.
  • Your child is at least two years old.
  • Your child has a head circumference within 90-95th percentile, documented at 18-24 months of age or later.
  • Family members (parents, child and, if possible, siblings) will give a skin sample.
  • Optionally, blood samples may also be given.
  • You will receive a small monetary token for each sample given. (Free parking is also provided.)

Background:

You and your child are invited to participate in a study conducted by Flora Vaccarino, M.D. and colleagues at the Yale Child Study Center. The purpose of this study is to identify genetic factors that influence brain cell development and function in individuals with Autism Spectrum Disorders. We are focusing on how young brain cells (known as “neuronal stem cells”) turn into mature cells (such as “neurons and glia”) and how they all function.

Science:

We are taking advantage of a recently discovered technique that, for the first time, allows us to generate and study human brain cells. This is based on the breakthrough finding that skin cells can be transformed, in a culture dish, into any kind of human cell. This technique has been referred to as “stem cells from skin cells”, or “induced pluripotent cells (iPSCs)”. Our research focuses on studying induced pluripotent cells that come from the skin of people with Autism Spectrum Disorder (ASD) and also from their relatives without ASD. We are particularly interested in the ability of these cells to turn into mature neurons and glia and how we could model their roles in brain functions.

Participant Selection:

Participants in our study will be: male gender, minimum two years old, have a diagnosis of Autism Spectrum Disorders (by a pediatrician, neurologist or geneticist), and an increased head circumference (within 90-95 percentile with regard to the population mean as defined by the Centers for Disease Control and Prevention) documented at 18-24 months of age or later. Some individuals may be ineligible to participate due to genetic conditions associated with ASD and general medical conditions that would make obtaining a skin sample difficult (for example: disorders leading to increased bleeding, significant allergy to local anesthetics).

Skin Biopsy:

Each participant from your family will be asked to provide a small skin sample (about the size of a grain of rice). The procedure, called a skin biopsy, is done in routine medical care and is normally used for diagnosis or treatment of a disease, and will be performed by a Board-Certified physician at the hospital facility dedicated for clinical research: YCCI Inpatient Facility and Nursing Support, Hospital Research Unit (HRU). An example of the skin biopsy procedure may be viewed here: My Visit to Yale

Compensation:

Individuals choosing to participate in this study will receive a small monetary token for every skin sample collected. Further, free parking will be provided if you decide to come to the Child Study Center. No further travel related expenses are covered by the research.

Privacy:

The health-related information we gather about you and your family in this study is highly personal. The researchers are required by law to protect fully the privacy of the information, known as protected health information (PHI).

Contact:

If you have more questions about this project, please feel free to contact the researcher in charge, Dr. Flora Vaccarino (flora.vaccarino@yale.edu), or Livia Tomasini (livia.tomasini@yale.edu) at 203-737-6430.