Project FIND-OUT

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months in the United States.

Are You Worried About Your Baby?

Babies with feeding issues, problems with movement or muscle tone, or who have missed developmental milestones may benefit from genetic testing. Learn more about Project FIND-OUT, which provides free genetic counseling and testing for infants between the ages of 3-12 months, and whether your baby might be eligible.

What Are The Benefits Of Project FIND-OUT?

Families who participate will receive the following free services:

Meet with a genetic counselor
Report with your child’s genetic testing results
Connect with a specialist, who can help you understand next steps and potential treatment options
Participate in research

By participating in Project FIND-OUT, you will contribute to an important research study on the value of genetic testing. We hope this study will lead to the development of guidelines for physicians and health insurance companies. Having guidelines may make it easier for other families to get genetic testing in the future and a genetic diagnosis in the future. Lastly, getting children diagnosed earlier will speed up access to new treatment options

What Is Project FIND-OUT?

Project FIND-OUT is an important research project to help parents get answers about potential genetic
causes of their child’s symptoms. Project FIND-OUT is only open to infants in the United States
between the ages of 3-12 months.

Who Is Eligible To Participate In Project FIND-OUT?

Project FIND-OUT is only open to infants in the United States between the ages of 3-12 months who have 2 or more of the below symptoms.

Symptoms

Definition

Feeding or gastrointestinal issues

Inability to suck, often spits up milk after feeding, problems swallowing (may cough or choke when drinking), constipation

Issues with movement/abnormal movements

Examples

Involuntary, rapid and repetitive movements and sounds
Involuntary, repetitive shaking movements
Involuntary rapid jerking of muscles
Muscles twist into abnormal postures
Unsteady posture and impaired coordination

Neonatal intensive care (NICU) admission

Any NICU or ICU admission for any reason of any duration

Developmental delay

Baby has missed milestones in 2 or more different areas such as communication, gross motor, fine motor, problem solving, persona-social if you need help determining if your baby has missed milestones, please talk to your pediatrician or look at the CDC Milestone Checklist at https://www.cdc.gov/ncbddd/actearly/pdf/checklists all_checklists.pdf

Other (congenital malformations, atypical growth or specialist referral)

Abnormal differences in your child’s physical body structure

You child’s head circumference, weight, or length is “off the chart” either much smaller (below 5th percentile) or larger (above 95th percentile) than babies the same age.

Your healthcare provide has referred your baby to a specialist such as a Neurologist, Cardiologist, Gastroenterologist, Developmental Pediatrician, or Orthopedics

Your healthcare professional has referred your baby for Occupational Therapy, Physical Therapy, Speech Therapy, or other Early Intervention services

Unprovoked seizures

One or more unprovoked seizure

Tone

Low muscle tone, floppy baby, not able to keep knees or elbows bent, poor head control, poor reflexes

What Do I Need To Do To Participate In Project FIND-OUT?

We hope to make participation in Project FIND-OUT easy for you and your family. Participation in any part of this research is voluntary. If you decide to participate, you will be asked to complete the following steps:

Enroll in Project FIND-OUT

Is your baby between the ages of 3-12 months? If you answered yes, start by completing an enrollment form.
Once you are enrolled

You will be asked to sign a release of information so that we can obtain medical records from your doctor and share medical information with your doctor
You will be asked to complete the Project FIND-OUT consent form
If you need help at any step in the process, please email the research team at projectfindout@combinedbrain.org

Participate in an online assessment which will be split into two appointments

A one hour meeting to discuss the study and complete forms about your baby’s development
A 15-minute online assessment with you and your baby. The assessment will be scheduled at a time convenient for you via FaceTime or Zoom. You and your baby will both need to participate in the second assessment.

Collect a sample from your child

The genetic testing kit will be mailed to you. You will collect the sample from your child by cheek swab and then return the test kit using the postage paid container provided to you.

Receive your genetic testing results

You will participate in a 30 minute post-test genetic counseling session to receive the results
The session will be scheduled at a time convenient for you
The purpose of this session is to review the results of the genetic testing

Visit a Pediatric Neurologist or another
appropriate specialist

Based on the results of your genetic tests, the Project FIND-OUT team will work with your primary care physician to help you schedule an appointment with a Pediatric Neurologist or other relevant physician
The purpose of the appointment is to discuss any findings from the genetic test, potential diagnoses, and next steps to ensure your child is getting the right care and treatment

Complete follow-up forms

You will be asked to complete some online forms 6 months after you enroll. These forms will take less than 30 minutes to complete. These forms will collect your feedback on Project FIND-OUT and will help us understand if the genetic testing was valuable for your child and your family.
You will also be invited to participate in a telephone interview to provide feedback on Project FIND-OUT.