HOW TO PARTICIPATE IN CHARGE SYNDROME RESEARCH
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.
Posttraumatic growth in parents of children with CHARGE Syndrome
Shelby Muhn, doctoral student working with Dr. Timothy Hartshorne in the CHARGE Syndrome Research Lab at Central Michigan University is investigating the prevalence of posttraumatic growth in parents of children with CHARGE Syndrome. Through an online survey, we are seeking to better understand how factors such as coping styles, stress, and community support impact growth in parents.
What is this for? The purpose of this study is to explore the prevalence of posttraumatic growth in parents of children with CHARGE syndrome. Additionally, this study will assess the factors that are hypothesized to impact to growth, such as stress, coping styles, external support, and severity of their child’s disability. The overall goal is to better support families and parents in raising a child with CHARGE Syndrome.
Who can participate?
Parents and Guardians must be:
- 18-years-old or older.
- Parent or legal guardian of an individual with CHARGE syndrome under the age of 18-years.
- Fluent in English.
What would participants need to do? Complete the online survey found in the link below. The online survey should take approximately 15-20 minutes to complete.
Link to online survey: https://cmich.co1.qualtrics.com/jfe/form/SV_5aur9YMdAG49OSi
If you want more information: If you have questions, you can contact Shelby Muhn at muhn1ss@cmich.edu or Dr. Timothy Hartshorne at harts1ts@cmich.edu. Thank you for your interest in this study!
Participants Needed for Online and Interview Surveys on Behaviour and CHARGE Syndrome
Andrea Thomas, a doctoral researcher at the University of Birmingham in the UK, is searching for participants for her research, which focuses on Behaviour and CHARGE Syndrome, and is supervised by Professor Chris Oliver and Dr Caroline Richards.
Ms. Thomas started her PhD in 2018, and given the devastating impact of COVID-19, parents’ availability to take part in research has been understandably limited. Several parents have taken part and she is very keen that their contribution, and the results of the research, are as meaningful as possible. She will finish data collection in November 2022.
This is an opportunity for parents to take part in two studies outlined below: 1, an online survey, 2, an interview study. Parents can take part in the online survey or the interview study or both. The studies are open to parents/caregivers internationally.
Online Survey: Understanding behaviour in individuals with CHARGE Syndrome.
Core Aims
- To collate detailed descriptions of behaviours that challenge, repetitive behaviour, hyperactivity, mood, social functioning and sleep in children with CHARGE syndrome.
- To explore the factors that relate to both negative and positive adjustment in families (specifically, parents) of individuals with CHARGE syndrome.
Background
Behavioural, cognitive, and emotional difficulties have a pervasive and significant negative impact on children and families. Our research work will focus on understanding the behavioural, cognitive, and emotional difficulties of children with CHARGE syndrome. The study will also consider the impact of these behaviours on family stress and adjustment.
A key strength of our study is that we hold data for many comparison groups of individuals with neurogenetic conditions. Comparisons between people with genetic syndromes are informative on two levels. Firstly, because they provide families and professionals with valuable context to anchor the severity,topography and prevalence of behaviours. Secondly, a comparison group is required to establish whether certain behaviours might be influenced by genetics.
WHO CAN PARTICIPATE?
This study is open to English speaking parents/caregivers who have a school-age child (4-15 years) with CHARGE syndrome.
How long will participation in the study take?
The questionnaire pack will take approximately 45 minutes to complete. Providing us with the results of genetic testing, by sending us a copy of the relevant letter, may also take 10-15 minutes (this is optional).
The survey can be accessed here: https://bham.qualtrics.com/jfe/form/SV_a59F4oH523wESV0
Interview study: Understanding the function of behaviours that challenge in individuals with CHARGE Syndrome.
Core Aim
To investigate the function of behaviour challenges in children with CHARGE syndrome, modelling associations between behavioural function and adaptive behaviour.
Background
Behaviours such as self-injury and aggression are reported by parents and care providers to be among the most concerning. Behaviours such as these are conventionally referred to as behaviours that challenge. These behaviours have a negative impact on quality of life and increase risk of isolation for the child and their family. Early intervention is crucial to improve outcomes, however successful intervention is contingent on determining the function of behaviour.
Our interview study is completed over the telephone or using video conferencing. The interview explores the following potential functions of behaviour: attention, escape from demands, access to tangibles, escape from social attention, sensory sensitivity, reinstatement of routine/repetitive behaviour, and pain/discomfort.
WHO CAN PARTICIPATE?
This study is open to English speaking parents/caregivers who have a school-age child (4-15 years) with CHARGE syndrome who has engaged in behaviour(s) that challenge in the last month.
How long will participation in the study take?
We ask parents/caregivers to kindly complete three interviews and two brief questionnaires. The interviews can be completed over the telephone or using video conferencing. There are three interviews to complete, which we estimate will take around 3 hours in total. The interviews can be completed on a day and at a time that is convenient for the parent/caregiver, and the interviews can be spread over 2 or 3 different days.
What are the potential benefits of taking part in the study?
Following participation in the study, parents/carers will receive a personalised feedback report. The study will help us to understand more about behaviour in children with CHARGE syndrome and may help improve support for children with CHARGE syndrome and their families in the future.
Parents/Caregivers can register for the interview study here: https://bhampsychology.eu.qualtrics.com/jfe/form/SV_ba7dvd7gJkcr55k
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
Participants Needed for Research for Virtual Training Sessions to Assess Problem Behavior
How will the study work?
For this study, will ask parents/caregivers to participate in virtual training sessions in which you will be trained to conduct a mock behavior assessment. We will also ask caregivers to complete a demographic questionnaire to obtain background information about you, your household and your child’s behavior. The questionnaire will take approximately 5 minutes to complete.
You will need a second caregiver to your child (i.e. another parent, grandparent, etc.) to participate in this study along with you. To train parents/caregivers, you will be asked to engage in role play with one caregiver role playing as the child and one caregiver assessing behavior.
Your child will not need to be present during the training sessions.
Participation in the virtual training sessions is free of charge. Sessions will be conducted across multiple days to increase feasibility. Overall, the time commitment would be approximately 2-4 hours. The scheduling of session times can be arranged to fit your schedule.
To participate in training sessions, you will need:
- Two caregivers available to participate together
- Ability to commit necessary time (2-4 hours)
- Access to stable, high-speed Wifi
- Access to a personal computer, laptop computer or tablet with video capability (you will need to be able to see the researcher and the researcher will need to have a clear view of your environment)
- Access to a personal email account to share meeting links and other materials
- To be able to speak and understand English
If you are interested in participating in this study or have further questions about participation in this study, please see below or contact Megan Anderson, M.S. at ma697@msstate.edu or Dr. Kasee Stratton-Gadke at kstratton@tkmartin.msstate.edu.
Parents of children ages 3 to 12 years with and without CHARGE Syndrome needed for Research Study.
This study will examine associations between the environment and parents perceived motor and teaching competence in children with CHARGE Syndrome
To read more about this study: click here.
For more information and the link to participate, please contact Pamela Haibach-Beach at pbeach@brockport.edu
Are you a parent of a child with a mental health condition, a medical condition, and/or a rare disease?
Participate in a survey on the Experiences in Accessing Mental Health Treatment.
For more information click here.
For questions contact Maria Martinez Calderon, LMHC, and Kim Hager, LICSW, at Children’s Friend, Inc. at 508-753-5425.
Have you or someone you know done research or exploration on health, physical activity, movement, and/or self-perceptions in CHARGE? This is a call for paper proposals for a special edition on visual impairment in the International Journal of Environment Research and Public Health.
Dr. Pamela Beach and Dr. Ali Brian are accepting a wide variety of proposals related to these topics.
Please click here for more information. Papers are due September 30, 2021.
For further information, contact Dr. Pamela Beach, pbeach@brockport.edu.
Investigation of the composition gut microbiome in adults with CHARGE syndrome in relation to the severity of gastrointestinal complications and behavior.
Dr. Kim Blake, Micaela Sabean (medical student), Emily Chedrawe (medical student) from Dalhousie University and IWK Hospital in Halifax, Nova Scotia are investigating the gut microbiome in adults with CHARGE syndrome.
WHAT IS THIS FOR?
The purpose of this study is to collect information about the gut microbiome in adults with CHARGE syndrome and relate that to the gastrointestinal symptoms they experience. Examples of these symptoms include nausea, vomiting, and constipation.
WHO CAN PARTICIPATE?
Anyone with a CHARGE syndrome diagnosis, age 18 and older, is invited to participate. We are also looking for family members of those with CHARGE to be involved!
HOW DO I PARTICIPATE?
A stool sample collection kit and survey will be mailed to your home. Once completed either by the adult with CHARGE or a guardian, the survey and collection kit will be mailed back with the postage provided. The total time commitment is about 30 minutes.
If you would like to take part or find out more please contact the Primary Investigator.
Micaela Sabean
Medical Student
Primary Investigator
Postural Orthostatic Tachycardia Syndrome (POTS) in Adolescents and Adults with CHARGE Syndrome – Dr. Kim Blake, Julia Morrison (medical student), and Angela Arra (Clinical Nurse Specialist) from Dalhousie University and the IWK Hospital in Halifax, Nova Scotia are investigating symptoms of POTS in adolescents and adults with CHARGE syndrome.
WHAT IS THIS FOR?
The purpose of this study is to collect information on the experience of POTS symptoms within the CHARGE population. Examples of these symptoms include very a fast heartbeat, feeling faint, fainting when standing up, and severe fatigue.
WHO CAN PARTICIPATE?
Anyone with a CHARGE syndrome diagnosis, age 12 and older, is invited to participate in an anonymous online survey regarding their experience with these symptoms.
HOW DO I PARTICIPATE?
The online questionnaire can be completed by a parent or guardian (if a person with CHARGE is under 18 or has a guardian) or by the adult with CHARGE. It takes about 15-20 minutes to complete the survey.
Please click on the button below if you are interested in participating. Thank you for your interest in this study.
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
Thank you for your donations to the Foundation, which helps support
CHARGE syndrome and CHD7 research.
Read More About Past Opportunities
The Stay Calm project is based at the School of Psychology, University of Birmingham in England.
WHAT IS THIS FOR?
The researchers would like to find out how emotional outbursts affect young people and those around them, and why outbursts happen in certain situations. Your views and ideas will help them think about how they could create strategies to support families, and the ways they could measure emotional outbursts.
WHO CAN PARTICIPATE?
The researchers are looking for families with children aged between 6 to 25 years old, who have emotional outbursts at least once a month. Families who have taken part in the previous questionnaire study can also take part.
The researchers will be focusing on the views of parents and care givers. If children and young people wish to speak to them about their own outbursts, they can also take part, but this is optional.
WHAT DO THEY NEED FROM YOU?
If you have not taken part in their previous study, you may have to complete some online questionnaires asking about your child’s outbursts and background information, which will take around 30-60 minutes.
You will then speak to a researcher in a one-on-one interview, which will take around 1 hour. Interviews will take place remotely (phone/internet call).
Please contact them if you would like to take part or to find out more.
Justin Chung
Doctoral Researcher
Project Co-Ordinator
kwrg@contacts.bham.ac.uk
Dr. Kate Woodcock
Senior Lecturer
Director of Kate Woodcock Research Group
k.a.woodcock@bham.ac.uk
THE FOLLOWING RESEARCH TOOK PLACE AT 14TH INTERNATIONAL CHARGE SYNDROME CONFERENCE
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.
