Caregiving for children with CHARGE syndrome and related disabilities
Primary Researcher: Hazzan Afeez
Target Population: Family caregivers of individuals with CHARGE syndrome.
Overview: Family caregivers play a critical role in the care of children and youths with disabilities, especially CHARGE syndrome. However, there is minimal research on the parental experience of children with CHARGE syndrome. The purpose of this study is to understand the caregiver experience and needs of parents of children with CHARGE syndrome and related disabilities. Results from this study will help fill a research gap and lay the foundation for future studies examining issues affecting caregiving in relation to CHARGE syndrome and related disabilities.
Early motor development of young children with CHARGE syndrome
Primary Researcher: Marrit Hitzert
Target Population: All children with CHARGE syndrome aged less than 3.5 years are eligible for inclusion in this study.
Overview: The aim of the study is to increase the limited knowledge about the early motor development of children with CHARGE syndrome. A better understanding will hopefully lead to improved care and support in the motor development of young children with CHARGE syndrome.
Evaluation of special education plans in CHARGE syndrome
Primary Researcher: Kasee Stratton-Gadke
Target Population: Our target population would be any student with CHARGE who has received an IEP (ages 3 and older in most states).
Overview: Individualized Education Plans (IEP) are a critical part of the educational journey for students with special needs; however, very little is known about the quality of IEPs as it relates to students who are deaf-blind or present with CHARGE. We would compare the IEPs of individuals with CHARGE against gold standards for IEP requirements (i.e., measurable goals, and IDEA).
Feeding and swallowing difficulties in CHARGE patients
Primary Researcher: Marrit Hitzert
Target Population: All persons with CHARGE syndrome (from birth to adulthood) are eligible for inclusion in this study.
Overview: The aim of the study is to increase our knowledge about the presence, type and severity of feeding- and swallowing difficulties in CHARGE patients by applying a standardized feeding assessment scale. Improved insight in the type and severity of those problems will further delineate the spectrum of feeding- and swallowing problems in CHARGE patients. Results of those questionnaire can provide useful information for parents themselves, feeding therapists and other clinicians who are involved in the care of these individuals.
Future research contact for studies related to CHARGE syndrome
Primary Researcher: Tyler James
Target Population: Individuals with CHARGE syndrome of all ages.
Overview: The purpose of this study is to create a contact list of people with CHARGE syndrome who can be recruited for future research studies. This will be a secure, web-based survey which will collect general contact information (i.e., mailing address, phone number, email address) for people living with CHARGE syndrome – or their family members. The goal is that this will lead to a list of people who are interested in being in a future CHARGE syndrome registry. We will also ask participants if they consent to their information being shared with other researchers – affiliated with a university or medical center – who have ethics board approval.
Generating stem cells for CHARGE
Primary Researcher: Donna Martin
Target Population: Individuals with CHARGE syndrome and their parents.
Overview: We aim to collect blood samples from 10-20 individuals with CHARGE to generate stem cells.Parent samples are also encouraged.
Investigation of walking gait parameters of individuals with CHARGE syndrome with support
Primary Researcher: Beth Foster
Target Population: Youth and adults with CHARGE syndrome that walk with supportive devices.
Overview: The basics of the research project is to explore and then analyze the walking gait parameters of individuals with CHARGE Syndrome with supportive devices. The aims of the research will be to analyze gait parameters when support such as walkers are used for walking. Gait parameters will be compared based on individual’s vision and hearing loss and when obtainment of independent walking was established and how long they have been walking with support.
Notes to my younger self project
Primary Researcher: Jerry Petroff
Target Population: This project reflects an on-line survey that allows parents (mothers, fathers, grandparents) to reflect on their journey with their child with CHARGE Syndrome.
Overview: The “Notes to My Younger Self Project” is a research initiative that attempts to gather the wisdom, perspectives, advice and encouragement of parents of children, youth and adults with CHARGE syndrome and create a repository of the thoughts from experienced parents. The central focus of this study is to identify key themes and collective advice of parents with children who have CHARGE Syndrome through submission of a Letter written to themselves at the birth of their child expressing advice, encouragement and hope.
Risky play and physical activity in children with CHARGE syndrome
Primary Researcher: Melanie Perreault
Target Population: Participants will be children with and without CHARGE syndrome ages 9-18 years old and their parent(s).
Overview: There are many barriers that children with CHARGE syndrome face that can impact their engagement in physical activity. For example, many spaces are not accessible for children with disabilities, such as playgrounds or public parks. Parents are also a barrier between their child and physical activity. Parents are protective of their children and are concerned about them getting hurt. Limited opportunities for these children to take risks can have a negative impact on their personal growth and quality of life. Self-determination highlights the conscious decisions and actions an individual makes over their life (Ball et al., 2021). Allowing a child to be self-determined can improve their confidence, motivation, and independence. Taking away a child’s opportunity to take risks can also take away their ability to make decisions for themselves and develop independence. This loss of opportunity can also cause the child to have a loss of dignity, as they are not able to participate in the same activities as kids without disabilities.
Physical activity and risky play are essential for helping children develop into autonomous adults capable of assessing the consequences of risk (Beetham et al., 2019). Risky play has numerous physical, cognitive, and affective benefits. Risky play allows children to develop an understanding of what they are capable of while growing their confidence to explore new things (Gillis & Jupp,2016). Engaging in risky play allows a child to learn how to navigate in dangerous environments, ultimately keeping them safer. When parents have a positive attitude toward their kid participating in risky play their child tends to have a greater competence in movement skills and participate more in physical activity (Sando et al., 2021; Stone et al., 2020). Overall, it is better for a child to have opportunities to engage in risky play then for it to be avoided. Recently, there have been several studies examining risky play behavior in children without disabilities and its relationship with physical activity; however, there is a lack of research on risky play behavior in children withCHARGE syndrome. The purpose of this study is to look at the risky play behavior in children withCHARGE syndrome. Specifically, we will compare attitudes toward risky play in parents of children with and without CHARGE syndrome. Additionally, we will examine the relationship between parental attitudes toward risky play and physical activity participation in children with visual impairments.
