Principal Investigator: Heather Adams, PhD


  • Dougal Hare, PhD (School of Psychology, Cardiff University, Cardiff UK)
  • Alex Paciorkowski, MD (Department of Neurology, University of Rochester, Rochester, NY USA)

This form describes a research study that is being conducted by Heather Adams, PhD from the University of Rochester's Department of Neurology (Rochester, New York USA) Department of Neurology, and other researchers from the University of Rochester and from Cardiff University (Cardiff, Wales, UK).

The purpose of this study is to learn more about the symptoms and every-day function of individuals with rare, paediatric-onset genetic disorders that cause developmental delay and other symptoms. A second goal of this research is to learn if the survey is useful for learning about children living in various parts of the world. As a start, we are testing this survey in the UK and the USA.

You are being asked to take part in this study because you are a parent or caregiver of an individual with a rare genetic disorder, with symptom onset during childhood. Symptoms may include seizures, unusual movements, vision or hearing loss, or difficulty walking or speaking. Even if the affected individual does not have these symptoms, we are interested in learning about his or her function.

If you decide to take part in this research study, you will be asked to complete one survey (approximately 30 minutes long). The survey will ask questions about the affected individual's physical abilities, behaviour, mood, language, and social abilities. We estimate that parents/caregivers of up to 500 persons with developmental brain disorders will complete this survey.

The survey is completely anonymous. We will not collect any information that could identify you or the affected individual. We ask that you do not share any details that could identify either of you, such as names, dates of birth, your address, or other personal information.

If you live in the United States of America, or in the United Kingdom, you will also have the option to complete a follow-up phone interview with one of the investigators in order to review your experience in completing the survey. Your feedback on the survey will help us to learn if we have asked our survey questions in a good way, or if we should make changes to the survey. The call would be scheduled on a day and time that is convenient for you. This phone call is completely optional. We will provide you with our contact information, so you can call or email us if you are interested in completing this optional interview. Your contact information will not be linked to your survey responses.

If you send us contact information via email, it will be stored on a secure, password-protected server that can only be accessed by the investigators. After the phone interview is completed, we will immediately destroy your contact details (name, phone number, email). We will make up to 3 attempts to contact you, but if we are unsucessful in reaching you, we will destroy your contact information after the third attempt.

You are also free to change your mind at any time. If you have emailed us, but then decide that you do not wish to complete the phone interview, you can simply tell us when we contact you, or you can just email us again. If you tell us that you do not wish to complete the phone interview, we will immediately destroy your contact details.

Some of the survey questions may be upsetting or make you feel uncomfortable. You can skip any of the questions you do not want to answer. You can also take a break and continue the survey at a later time, or stop participating in the survey at any time, for any reason.

Because the survey is anonymous, there is no risk for invasion of privacy or breach in confidentiality based upon your survey responses. If you do decide to temporarily share your contact information, there is a small risk of breach of privacy/ confidentiality. As noted, your contact information will be stored in a secure manner and only the study team will have access to it. It will be destroyed as soon as you complete the follow-up phone interview, or after 3 attempts to contact you (if we are unsuccessful), or if you notify us that you have changed your mind and do not wish to schedule the phone interview after all.

All e-mails communication between study participants and the investigators will be to/from a secure, password-protected email address provided by Cardiff University (Cardiff, Wales UK).

Transmitting your information by e-mail has a number of risks that you should consider. These include, but are not limited to, the following:

  • E-mail can be circulated, forwarded, stored electronically and on paper, and broadcast to unintended recipients.
  • E-mail senders can easily misaddress an e-mail.
  • Backup copies of e-mail may exist even after the sender or the recipient has deleted his or her copy.
  • Employers and on-line services have a right to inspect e-mail transmitted through their systems.
  • E-mail can be intercepted, altered, forwarded, or used without authorization or detection.
  • E-mail can be used to introduce viruses into computer systems.


There are no other expected risks. There are also no expected benefits.

You will not be paid for participating in this study, and there are no costs to you for taking part.

Your participation in this study is completely voluntary. You are free not to participate or to withdraw at any time, for whatever reason. No matter what decision you make, there will be no penalty or loss of benefits to which you are otherwise entitled.

If you have any questions at all about the study, you may contact Dr. Heather Adams (Principal Investigator) or Dr. Dougal Hare (Co-Investigator) at the study email address: Additionally, you may contact us via our USA-based phone number: (585) 275-9330. [or, from the UK: 001.585.275.9330].  Extra phone charges may apply if you place the call from outside the USA.

Please contact the University of Rochester Research Subjects Review Board (RSRB) for the following reasons:

  • You wish to talk to someone other than the research staff about your rights as a research subject;
  • To voice concerns about the research;
  • To provide input concerning the research process;
  • In the event the study staff could not be reached.

Contact information for the University of Rochester RSRB

  • 265 Crittenden Blvd., CU 420628, Rochester, NY 14642 USA
  • webform
  • Calling from the USA: (585) 276-0005 or (877) 449-4441
  • Calling from the UK and other countries: 001 585 276 0005 or 001 877 449 4411 (international calling charges may apply)

Thank you very much for taking the time to review this Information Sheet. If you wish to participate in the survey, please continue to the next page. If you do not wish to participate, you may simply close this web page now.

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