Who can participate?
Infants, children and teens up to 18 years old who have been diagnosed with a congenital structural brain disorder, may be eligible to participate.
Types of congenital structural brain disorders include hydrocephalus, spina bifida, microcephaly, lissencephaly, polymicrogyria, holoprosencephaly and pachygyria.
Two family members without a congenital structural brain disorder may also be asked to participate in the research study (but this is not required).
What will happen in the study?
If your child is eligible, and you decide to participate, he or she will have 1 research study visit. This visit will last about 30 minutes and will be added to the end of a regularly scheduled clinic visit. No extra trips to the hospital will be necessary.
The following is a list of some of the research study tests and procedures:
- Review of your child’s medical history (and permission to collect it from other hospitals and doctor’s offices)
- Collection of your child’s medical information at each clinic appointment (this information will be entered into a database)
- Collection of blood, saliva, skin and/or cheek cell sample(s)
You may give permission for your child to participate in all parts of this study or in only some parts of the study.
Some of your family members who do not have a neurodevelopmental disorder may also be asked to participate in this study.
Study staff may obtain a sample of your child’s skin or a portion of the blood draw to create special cell lines, called Induced Pluripotent Stem Cells (iPS cells), so that additional genetic testing may be done. The iPS cells will be stored for future research related to neural development.
Any of your child’s leftover samples (blood, cells or tissue) from clinical procedures may be stored for future research on neural development. These samples, as well as clinical information, may also be sent to researchers at other institutions. No information or samples will contain any personal identifiers to link back to your child.
Participants and parents/guardians interested in having their child participate will be given a consent form that thoroughly explains all of the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.
What are the good things that can happen from this research?
Your child will receive no direct benefit from participating in this study. However, you will have the option to choose if you would like the results of any clinically important genetic information determined as a result of this research. This information could make it easier to identify other family members at risk to have children with similar brain malformations.
As a result of your child’s participation and the participation of others, information learned from this study may help us to better understand brain malformations and help those with these conditions in the future.