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Opportunities for Families


Be sure to check out the Research Table during conference registration in Dallas.  There will be more information on each project as well as sign up sheets.  Many projects will allow walk-ups as well.  Check out these 10 projects and see which ones you can participate in.

What: CHARGE Syndrome Genetics Research

Who:  anyone with CHARGE who has not had DNA testing or had negative CHD7 gene testing, along with available family members (parents, siblings)

How: questionnaire; sample collection by saliva sample or cheek swab

Time: 15-30 minutes

Can I sign up now? Yes. Contact the research team:  michiganCHARGEresearch@med.umich.edu

Not all cases of CHARGE syndrome are caused by changed in the CHD7 gene.  We are interested in finding new genetic causes of CHARGE and genes that might influence the severity of features of CHARGE.  We will collect family clinical information and a DNA sample (by a saliva sample or cheek swab) on each participant. MORE INFORMATION

What: Fathers’ Experience with CHARGE Syndrome

Who:  Fathers (all kinds: bio, adopted, step, guardian, father figure)

How: In person interview (recorded)

Time: 30-60 minutes

Can I sign up now? Yes. Contact Jerry Petroff petroff@tcnj.edu

We want to learn more about how fathers of children with CHARGE syndrome see their involvement in their child’s health, development, and education, as well as how satisfied they are with the associated processes. Very few studies have looked at the experiences of fathers of children with disabilities and even fewer to fathers of children with deafblindness. Through our interviews, we hope to identify key themes and issues around fathers’ involvement in their child’s health care, overall development, and education settings. MORE INFORMATION

What: Early Childhood Home Environment and Motor Skills

Who: Parents of children with CS who are 18 months to 42 months old (1.5y to 3.5y)

How: Questionnaire

Time: 15-30 minutes

Can I sign up now? Yes (you can even complete the questionnaire online now!)

To sign up now, contact Melanie Perreault mperreault@brockport.edu

The purposes of this study are: 1) to have parents of very young children with CS and describe the home environment and their child’s motor milestones and 2) compare these results to the home environment of typically developing children. Children with CHARGE have significantly delayed motor development due to multiple factors (prolonged hospital stays, sensory, muscular, skeletal, and neurologic limitations). We know that the environment which surrounds an infant also influences motor development. We are hoping to learn more about the potential influence of the home environment of very young children with CHARGE syndrome in comparison to their typically developing peers. MORE INFORMATION

What: Stool Microbiome in CHARGE and Siblings

Who: 2y-18y with CHARGE and parent.  Also, sibling (as a control) whenever possible.

How: Questionnaires; Stool collection kit (mail in)

Time: 15-30 minutes

Can I sign up now? YES, and we can send the kit so you can bring it to the conference.

To sign up now, contact Emily Chedrawe  emily.chedrawe@dal.ca

Many individuals with CHARGE have trouble with their digestion and bowel movements. Some difficulties are related to the nerves that move food down through the gut. Our intestines are also home to bacteria (the gut microbiome) that help digest food and can affect the overall health of the gut. We want to see if the gut microbiome is different in individuals with CHARGE compared to those who do not have CHARGE (especially their brothers and sisters). We do this by analyzing a small stool sample. Samples can be kept at room temperature, mailed to us, or dropped off at the conference. Participants will also be asked to fill out questionnaires about feeding, digestion, and diet.

What: Self-Injury Behavior

Who: Parents of children with CHARGE over 1 year of age

How: Questionnaire

Time: 15-30 minutes

Can I sign up now? Yes.  Contact Lyndsay Fairchild lmq8@msstate.edu

We want to collect information about self-injurious behaviors (SIB) in individuals with CHARGE:  frequency, severity, and body site location of the injuries. In addition, we will ask about possible relationships between pain and the display of self-injury and about any treatment history.

What: Impact of Home Intervention on Gross Motor Skills

Who: children with CHARGE syndrome ages 4 years to 12 years and a parent

How:  At the conference: Questionnaire, gross motor testing,

After the conference:  twice weekly sessions at home, video, questionnaire

Time: 30-45 minutes

Can I sign up now? YES, we would like to get as much info as possible prior to the conference.

To sign up now, contact Melanie Perrault mperreault@brockport.edu

This study will assess the gross motor skills in children and the impact of a home intervention upon gross motor performance.  At the conference, parents will complete a questionnaire and the child will have motor skills and balance evaluated. Parents will receive a motor development kid and curriculum.

After the conference, parents will work with their child on gross motor skills 2 times per week.  Finally, there will be a post-test questionnaire and video or videoconference.  Following the post-test participants will receive a $50 gift card. MORE INFORMATION

What: POTS — Do you get dizzy? Really tired? Heart beat fast? Hot weather bother you?

Who:  anyone with CHARGE 12 years old or older and parent

(you do not need to have the symptoms to participate)

How: Questionnaires for parent or person with CHARGE, some testing

Time: 30-60 minutes

Can I sign up now? No. You can sign up or walk up at the conference.

If you want more info now, contact Julia Morrison   julia.morrison@dal.ca

We are studying POTS (postural orthostatic tachycardia syndrome) in people with CHARGE syndrome. We believe it may be something which is common in those with CHARGE than in the general population, and that the experience of POTS symptoms might be worse or more difficult to manage in people with CHARGE. We will be conducting this research via administration of a questionnaire that asks questions about CHARGE and about symptoms of POTS, as well as by possibly conducting some tests to see how your heart rate changes when you stand up quickly. MORE INFORMATION

What: Social Play

Who:  Parents of children with CHARGE in grades 1-6

How: Online training, Questionnaire

Time: 30-60 minutes

Can I sign up now? No, there will be sign-up sheets at conference

More info, contact Megan Schmittel   schmi2m@cmich.edu

The purpose of the research study is to document social play in children with CHARGE syndrome based on parent report. Parents will view a short training about social play and report what type of social play their child most frequently engages in. Then, they will complete questionnaires about their child’s play behaviors and adaptive behaviors, as well as characteristics associated with CHARGE syndrome. MORE INFORMATION

What: Fatigue

Who:  Individuals with CHARGE age 15 and up

How: Interview (if you need an ASL interpreter, we need to know ahead of time)

Time: 60 minutes

Can I sign up now? Yes, contact to schedule an appointment.

More info, contact Anna Weatherly  weath1a@cmich.edu 

Fatigue is something that is experienced by everyone. Individuals with CHARGE may experience fatigue at a higher rate or with greater intensity then individuals without CHARGE.  This is a preliminary study intended to help better understand how adolescents and adults with CHARGE view their experiences with feeling really exhausted mentally and/or physically – what they feel and how they deal with it. , Participants in the study will complete a short online survey regarding fatigue symptoms and will participate in an interview regarding their experiences and management of fatigue. MORE INFORMATION

What:  Attitudes About Sexuality

Who:   1.) Individuals with CHARGE over 18 years of age

2.) Parents of children with CHARGE 1 year of age

How: Questionnaire

Time: 15-30 minutes

Can I sign up now? Yes.  Contact Emily Mathis  eas216@msstate.edu  

We are gathering early information about attitudes towards aspects of sexuality of individuals with CHARGE syndrome.  We hope to identify concerns and different perceptions of themes to be used in the development of a comprehensive sexuality education program for individuals with CHARGE.  We will collect information both from parents of individuals with CHARGE (of all ages) and from adults who have CHARGE. This study should help us to better understand barriers preventing the delivery of sexuality education to this underserved population.

CHARGE research could not take place without the participation of the families. There are many ways you can help. At any given time, there are many studies underway all over the world to help further understand many aspects of CHARGE and CHD7. Studies range from DNA analysis to clinical features and behavior to therapies and education. As these studies benefit our children, we encourage families to participate. A great way to start is to enter your child’s baseline information into the CHARGE database CSCDP.

All projects have been approved by Institutional Review Boards (IRB). If you have a project you would like posted, contact Meg Hefner meg@chargesyndrome.org.

CHARGE Syndrome Clinical Database Project (CSCDP)

Saint Louis University and the CHARGE Syndrome Foundation

Description: an on-line collection of baseline information (prenatal–current) on individuals with CHARGE. Information you enter online will be used to help us understand more about CHARGE and will be shared with researchers so they do not need to ask you baseline questions over and over again. Parents or independent adults with CHARGE are invited to participate.
Enrollment dates: now enrolling, no end date set.

Contact: Meg Hefner charge-survey@slu.edu or meg.hefner@health.slu.edu.

For More Information: CHARGE Database Information

DNA causes of CHARGE beyond CHD7

University of Michigan

Description: Not all cases of CHARGE syndrome are caused by mutations in the CHD7 gene. Your family is eligible if CHD7 testing was negative or has not been done. DNA will be analyzed to look for other possible CHARGE genes. Participation involves collecting and sending saliva samples (which will be used to extract DNA for analysis) on individuals with CHARGE, parents, and siblings. Phone consent, collection kits mailed to you.
Enrollment dates: now enrolling, no end date set.

Contact: Donna Martin donnamm@med.umich.edu; Stephanie Bielas sbielas@med.umich.edu

For More Information: Martin DNA Study


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