Frequently Asked Questions

Participation
Part 1
Part 2
General

Participation

Since you or a family member had a prenatal genetic test for the fragile X gene, your family is eligible for the study.

This study aims to better understand whether results on prenatal testing are associated with possible developmental outcomes. We are specifically interested in examining the impact of having a fragile X premutation allele on development.

Yes, please! We definitely need people to participate whose children do not have the fragile X premutation allele. We want to compare children who were identified similarly but who had different prenatal genetic results. The only way we can do this well is if everyone participates, regardless of their genetic results.

Yes, please! It is important for us to capture how all children are developing.

Yes, please! It is important for us to capture how all children are developing.

The study has two parts.

Part 1 involves parents completing four questionnaires about their child's behavior and development. We are including parents of children who are 3 to 13 years old.

Part 2 involves a direct assessment of your child, via the computer and a parent completing questionnaires. Children aged 8 to 13 are invited.

No, your participation is completely voluntary. You can decide not to participate or to withdraw at any time.

No, participation will in no way affect your or your child's access to healthcare.

In Part 1, you completed questionnaires about your child.

In Part 2 we work with you and your child directly. We will evaluate your child over Zoom. We will also ask you to complete additional questionnaires about yourself and your child. Part 2 gives us much more detailed information and we will share our findings with you by sending you a brief summary report about your child's performance.

No, only families who have completed all the questionnaires in Part 1 (and whose child meets set age and genetic status requirements) are eligible for Part 2.

If your child has had fragile X genetic testing (either prenatally or as a child) and the result was negative (repeat length in the typical range) or a fragile X premutation was found. We are not recruiting children with fragile X syndrome.

Yes! We would like you to complete it. Please reach out to Nicole Tortora at premutation.study@opwdd.ny.gov or call 718-494-5154

Only those children whose fragile X allele status is known AND who are 8 to 13 years-old are eligible.

Yes! If you send back the saliva kit now, and your child is in the correct age range, then your child will be eligible! If you no longer have the kit we could send you another one. Please reach out to Nicole Tortora at premutation.study@opwdd.ny.gov or call 718-494-5154.

No, none of your children have to participate. You may choose whether you want any eligible child to participate, and you may also choose to have only one eligible child participate. You do not have to have all your children participate.

Part 1

3 to 13 years old.

We ask information about your child's background, behavior, social skills and executive functions. In addition to the enrollment questionnaire, there are three standardized questionnaires.

It depends on how many children you are responding about. Generally, completing the four questionnaires online takes about 45 minutes to 1 hour. The questionnaires are sent individually over the course of a few weeks and are not all done at the same time.

Great! If you have your study ID# that was provided to you available, you can follow the link on this website to begin Part 1. If you do not have your study ID#, please contact Nicole Tortora at premutation.study@opwdd.ny.gov or call 718-494-5154

We request that you complete Part 1 on all your children who are between 3 and 13 years old. If you have younger children, you will be asked for their name and date of birth so that you can be contacted in the future when they are eligible for the study.

Reach out to Nicole Tortora and she can let you know how best to proceed. You can reach her at premutation.study@opwdd.ny.gov or call 718-494-5154

Yes! If your child was tested prenatally through IBR, Nicole Tortora can provide you with a copy of their report. If they were never tested or you are unsure of their result, we can perform the test on DNA from a saliva sample.

The HIPAA consent form allows us to use the results from your prenatal testing and the data collected from the questionnaires in our study.

Nothing! Part 1 is only completed by the child's parent/caregiver.

No, not in Part 1.

The information will be de-identified and analyzed as a group. We will present our findings at scientific and family-oriented conferences and write them up for publication in scientific journals. Please keep in mind that full analysis will not be done until the data collection is complete. We will keep you informed via our newsletter and this website.

Part 2

Part 2 of the study has three parts:

  1. One parent or caregiver will be asked to complete questionnaires about their child's behavior and development.
  2. Individual children will be given a study-related clinical neuropsychological evaluation.
  3. Children's mothers will complete additional questionnaires about their own medical history and behavior, as well as their interactions with their child.

8 to 13 years old.

No, you don't have to go anywhere! The study is being conducted online. We will meet with you and your child via Zoom Healthcare.

A clinical neuropsychological evaluation is essentially an assessment of your child's skills. We use measures that are standardized - that is, they have been given to thousands of other people the same age - so we can determine how your child is doing relative to what is expected for your child's age.

We look at things like your child's vocabulary level, reading ability, math ability, attention, visual spatial reasoning, affect understanding, executive control and we ask questions about your child's behavior and adaptive skills. We are looking at a broad range of areas so we can determine your child's individual strengths and weaknesses.

Your child will be asked to answer questions and look at pictures. We use a number of age-appropriate measures that evaluate your child's ability in selected skill areas. For most areas, the questions start off easy and then get progressively harder. We explain this to your child, but for some children this might be frustrating. For some, they might find participating boring, but we try and keep their interest. We do our best to reward them for their effort and to encourage them throughout.

The child neuropsychological assessments will all be conducted remotely by well-trained, advanced graduate students in the Clinical Psychology doctoral program at Queens College, City University of New York. The assessors are all supervised by Dr. Veronica J. Hinton, who directs the graduate program's clinical training. Dr. Hinton is a developmental neuropsychologist with over 25 years of experience working with children.

We anticipate that participation in Part 2 can be completed in about 4 hours of the child's time. However, it can take longer depending on the child's approach and ability. Some children may take a more measured pace and consider options thoroughly, some may take longer before they reach a point where the material is difficult before they stop a particular measure, and some may take multiple or long breaks. For parents, completing the questionnaires can take about two hours, but this can also be variable and go longer, depending on multiple factors. If you have access to two computers, you and your child can potentially complete the full study simultaneously in 4 hours. We will work with each child according to their own needs.

The expected time breakdown is as follows:

  1. Child assessment - about 4 hours (this can be done in one 4-hour block or two 2-hour blocks)
  2. Parent questionnaires about the child - about 1 1/2 hours
  3. Mother's questionnaires - about 1 hour

We will try to schedule these sessions at your convenience.

No, your participation is completely voluntary. You can decide not to participate or to withdraw at any time.

Yes, your child will receive a focused clinical neuropsychological evaluation and after completion we will send you a brief summary report about your child's performance supervised by Dr. Hinton. This may give you valuable information about your child's development. Neuropsychological evaluations can be hard to get and may be prohibitively expensive when obtained via private practice.

There is no cost to you or your child for participating.

Yes, if you complete all of Part 2, you will receive $200 for participating. In addition, at completion, your child will receive a certificate and choice of gift. If you or your child do not complete all study activities, the compensation will be pro-rated.

Because the evaluation will be conducted online, we need to ensure that you have access to a computer with camera and clear audio so we can connect with you via Zoom. If you have two computers in separate rooms, we can potentially work with you and your child simultaneously. In addition, we need you and your child to be in quiet, distraction-free, environments during the evaluation.

Depending on where you live, we could invite you to come to our clinical space and use a computer at: Queens College, City University of New York, Emory University, or the New York State Institute for Basic Research in Staten Island, New York. If you live in another area, we might be able to problem solve some way to get you access to a computer in the area. Let's talk it through!

No, the smart phone screen is too small for us to do an accurate evaluation.

You will be invited to participate if you completed Part 1 and your child is between 8 and 13 years-old.

Lisa Shubeck at Emory University will be emailing and calling families and telling them about the study. You may also contact her at Lisa.Shubeck@emory.edu or (404) 778-8478. She can answer questions about the study and will help you with the online consent and schedule your study sessions.

Please show your child the comic, A Study of Child Development, to give your child an overview of what to expect. You can download it from this website. Then talk to your child about the study. Answer your child's questions, or let your child know we will answer their questions when we meet with them.

Please ensure your child has a good night's sleep, is not too exhausted, and has eaten so we can get your child's "best" performance.

We try to make it fun! We engage each child and let them know how important their effort is. We do our best to reward them for their effort and to encourage them throughout.

At completion, all children receive a certificate of participation and their choice of a small gift.

We also compensate you $200. via a Visa card for participating fully in Part 2, and much of that is for your child's time and effort. We give the Visa cards to the parents to determine how they want to allocate the compensation.

We will not mention anything related to fragile X premutation carrier status to your child. The comic book does not say anything about the fragile X premutation; it does note that each child received genetic testing when their mother was pregnant, but it does NOT mention any specifics about the testing or results. As well, since our clinical assessors will remain “blind” to your child's fragile X premutation status, they won't know if your child has a premutation allele AND they won't discuss it.

No preparation is needed, other than finding the time and a distraction-free setting to complete the questionnaires.

Yes, please do NOT share with the person working with you and your child any information about your child's prenatal results. Although we have that information in our files, the individual clinical assessor will not know it. We want to conduct your child's evaluation without knowing anything about the original prenatal genetic findings, so we do not inadvertently bias the information we are collecting.

We will ask to meet you at the start and then work with your child without you present. We do request that a responsible adult be in the home during the full evaluation in case we need someone to “trouble shoot” using the Zoom system.

Yes! If the child's mother is unavailable, then we will not collect the maternal questionnaires. We will request you complete the questionnaires about your child and your child participate in the neuropsychological evaluation portions of the study.

No, no one except team members will see you and your child participate. We will use the Zoom Healthcare platform. The Zoom Healthcare platform has increased security and maintains compliance with the Health Insurance Portability and Accountability Act (HIPAA) by employing administrative, technical, and physical safeguards to protect personal information. We will not video record the session.

All information will be collected and associated with an ID number. No names will be associated with the collected information when we publish the information. Names will be on your brief summary reports. The databases that store the study information are saved on HIPAA-compliant servers and accessible only to the study team.

We will ONLY share the brief summary reports with you. It is your decision whether you want to share the report with anyone else, such as medical providers or school personnel. We will ONLY release the report to you.

Yes, they can still participate but we ask that you let us know when they had this evaluation and - if it was within the last year - what tests they completed.

Yes, probably. We will provide you with information that may be very helpful to you in obtaining services from your child's school. However, each school district, and even each school, has different policies about what they need to determine eligibility for services and may require additional evaluations or measures that are different from what we are using. We believe that this report may be a valuable first step in accessing school services should your child need them.

Yes, they will be listed in the feedback report you will receive after the evaluation. We prefer not to share the list in advance so as not to bias participation in any way. All are standardized measures that have been given to thousands of people and all have been approved by our Institutional Review Board.

We will keep you on our mailing list and send you periodic newsletter updates to share the progress of the research. We will also ask for permission to stay in touch in case we decide to do more studies in the future. In a few select cases, if certain developmental concerns are identified, we will invite your child to come to our clinic at the Queens College Psychological Center for a more thorough evaluation in person.

We will present our findings at scientific and family-oriented conferences and write them up for publication in scientific journals. We won't write up the full findings until all the data is collected. We will keep you informed via our newsletter and this website.

Knowing your child's fragile X repeat size is a critical component of the study. If your child has never been tested or the testing was performed by another laboratory and the report is unavailable, you will be asked to submit a saliva sample for your child.

You may also be asked to submit a saliva sample for your child for additional studies on the fragile X gene to complement findings from the surveys and direct assessment of your child.

General

Families who are told their child has a fragile X premutation are eager for information about what they can expect as their child grows. This study will allow us to provide that information to families.

This is a multi-site study and many scientists are working together to ensure the highest quality research.

We are working together, and each site has different areas of expertise that they contribute to the study. The New York State Institute for Basic Research in Developmental Disabilities (NYS IBR) is the diagnostic genetic laboratory where your child's prenatal sample was analyzed. They are getting in touch with the people who sent them the samples and asking them to contact you. That's how we originally reached out to you. Researchers at NYS IBR are running Part 1 of the study. You may have had contact with Nicole Tortora during your participation in Part 1.

Emory University has extensive experience in running large scale studies and they oversee maintaining the database and recruiting people who completed Part 1 to participate in Part 2. If you were asked to participate in part 2, you likely spoke to Lisa Shubeck.

And Queens College, City University of New York has clinical expertise in child assessment. The team at Queens College is not privy to your original prenatal findings so they can maintain a research “blind” (that is, because they don't know what the original findings are it won't inadvertently influence their interactions with you and your child). When you participate in Part 2, you and your child will work with one primary clinical assessor, and a secondary clinical assessor may contribute.

We are a multi-site team and work together to ensure the highest quality research.

As part of our collaborative team, we work with scientists at RTI who help with data analysis. You will not interact with anyone from RTI and they will only work with fully de-identified data.

Yes, this study is approved by the New York State Psychiatric Institute Institutional Review Board. NYSPI IRB # 7328 This approval covers all aspects of the study and all sites involved in the study.

This study is funded by the National Institutes of Health. Specifically, the National Institute of Child Health and Development determined that this study is of significant value, and they granted us the funds to complete it.

Your participation will help parents of the future be better informed about what their genetic findings may mean for their child's future.

We want to ensure you understand the risks and benefits about participating! This research has been deemed “minimal risk” by our Institutional Review Board. We will try our best to make participating as pleasant as possible for you and your child, while keeping all of your, and your child's, information private.

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