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Research at Conference 2023

Growth Parameters in Individuals with CHARGE Syndrome

Cincinnati Children’s Hospital Medical Center

Primary Researcher: Brittany Simpson

Target Population: Individuals with CHARGE – Any age

Visit the CCHMC exhibit booth all day Friday and Saturday for information on how to participate. 

We invite interested individuals and families to help us characterize growth in CHARGE syndrome. We would like to create condition-specific growth charts. Our team will ask you a few short questions about your or your loved one’s health and will take a measurement of weight, height and head circumference after enrollment. Medical record requests will be made to assess genetic testing and any other pertinent information pertaining to your or your child’s history. You will also have the opportunity to enroll in our larger CHARGE Center Registry at Cincinnati Children’s Hospital Medical Center. Any individual with CHARGE Syndrome is invited to participate.

Home-based Opportunities for Motor Skill Enhancement

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SUNY Brockport

Primary Researcher: Melanie Perreault

Team: Pamela Beach, Lauren Lieberman, Brooke Wolff, Madison Kent

Target Population: Study 1: Children ages 3-12 years old who walk independently and their parents; Study 2: youth ages 10-18 years old; Study 3: Parents of children ages 3-12 years old

The purpose of this study is to determine the effectiveness of a home-based intervention on motor skill competence in children with CHARGE syndrome. If you have a child that has been diagnosed with CHARGE syndrome, is between the ages of 3-12 years old, and can walk independently, I invite you and your child to participate in this study. If you decide to participate, your child will complete a motor skill assessment, you will complete a parental perceptions survey, and you and your child will complete a home-based opportunities for motor skill enhancement (HOME) program for six weeks. The initial data collection will take place during the International CHARGE Syndrome Conference. During the HOME program, parents are expected to work with their child three days a week for 30 minutes practicing six motor skills (run, hop, slide, overhand throw, kick, one-handed strike). Parents will be provided with free equipment and web-based resources to assist them. In addition, there is a compensation of up to $200 in electronic gift cards for participating families. If you and your child would like to participate, please sign-up at the Conference or complete this form.

Identification of Genetic Mechanisms in Developmental Disorders of the Nervous System

The University of Michigan

Primary Researcher: Donna Martin

Team: Alba Guxholli, Jennifer Skidmore, Yiwen Zhai, Amanda Moccia

Target Population: Individuals with CHARGE and their families.

Purpose of the study 

We are interested in finding new genetic causes and biomarkers of CHARGE.  

Participation Requirements 

  1. At least one individual in the family must have clinical features of CHARGE Syndrome. 
  2. Adults and children of any developmental age can participate. Depending on the situation, we will obtain saliva (using cheek swab or spit kits), blood, and/or urine from affected children and their immediate family members.

Nature of participation 

We will collect saliva, blood, and/or urine samples from individuals with CHARGE Syndrome and their parents and siblings.  DNA or RNA will be collected from the saliva (cheek swab or spit kit), urine, and/or blood samples to undergo sequencing and epigenetic analyses that will allow us to identify changes that may be associated with CHARGE.  We will ask families to participate in a CHARGE Syndrome cohort database to obtain clinical information and explore the natural history of CHARGE Syndrome. In some cases, we may use blood samples to generate a population of cells known as induced pluripotent stem cells (iPSC’s) that can be turned into other types of cells. This will allow researchers to understand how changes to DNA lead to changes in cells that make up various parts of your body including those impacted by CHARGE syndrome.  

Time involved 

The requirements to participate in this genetic study can be completed in a single session of approximately 30 minutes at our booth during the conference.  Each family will be asked to complete a clinical history questionnaire (15 – 20 minutes), and each participating family member will be asked to donate a saliva, blood, or urine sample, which will take 5 – 15 minutes.     

Contact information

If you have any questions regarding this study, please visit our booth during the conference or contact Dr. Donna Martin or Ms. Alba Guxholli at 734.334-3701 or aguxholl@med.umich.edu. 

Physical Activities Barriers

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SUNY Brockport

Primary Researcher: Lauren Lieberman

Team: Melanie Perreault, Pamela Beach, Isabella Toscano, Brooke Wolf, and Madison Kent

Target Population: Youths 10-18 years of age with CHARGE who can comprehend and fill out a 23-item questionnaire on barriers to physical activity.

Researchers from SUNY Brockport are conducting a study on the barriers to physical activity for youth with CHARGE Syndrome. Your child is being asked to be in a research study of physical activity barriers for youth with CHARGE Syndrome.

If you would like your child to participate in the study, please click here to fill out the questionnaire. You can reach the researchers at llieberman@brockport.edu, pbeach@brockport.edu, mperreault@brockport.edu if you have any questions.

The Prevalence, Impact, and Patterns of Constipation in CHARGE Syndrome

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Dalhousie University

Primary Researcher: Annie Kakamousias

Team: Kim Blake, Angela Arra

Target Population: Individuals with CHARGE over the age of 2.

We are conducting a project looking at CHARGE Syndrome, gastrointestinal issues, and constipation. Constipation is a prevalent, but under-studied, issue in patients with CHARGE Syndrome. For our project, we are hoping to recruit ALL patients with CHARGE Syndrome, with and without constipation, in order to investigate if there are certain characteristics that predispose an individual to developing constipation.

We are hoping to recruit patients with CHARGE Syndrome, both male and female, over the age of 2 years old. Patients do not need to have constipation or GI issues to participate, in fact those without these symptoms are encouraged to participate! Participants should reach out to the study lead, Annie Kakamousias, prior to Conference at an834104@dal.ca. Participants are also welcome to contact the study lead at Conference at 902-802-1112. We also welcome participants to “walk-up” at Conference!

Puberty, Puberty Induction and Sexuality in CHARGE Syndrome, Towards a Shared Decision Making Tool

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University Medical Center Groningen, the Netherlands

Primary Researcher: Dieuwerke Dijk

Team: The research will be a collaboration between Kasee Stratton, Conny van Ravenswaaij and Dieuwerke Dijk

Target Population: Focus group for boys/men: individuals with CHARGE syndrome and hypogonadism, identifying as male, age 14-21 Focus group for girls/women: individuals with CHARGE syndrome and hypogonadism, identifying as female, age 14-21

The majority of children with CHARGE syndrome need hormone replacement therapy in order to induce puberty. Choosing the best treatment option can be complicated, since puberty and puberty induction influence many aspects of life, including physical changes, sexuality and relationships. We want to help youngsters with CHARGE syndrome and their parents by making a decision making tool. In order to do this, we need to learn from people with CHARGE syndrome what their experiences are and what their thoughts are about such a tool.

For this study we will organize focus group sessions during Conference. If you are between 14 and 21 years old, you have CHARGE syndrome and you receive puberty medication or are currently thinking about starting treatment with medication, then you can participate in one of these sessions. We aim to have multiple sessions of 1 to 1.5 hours, with 6-12 participants each. There will be separate sessions for males and females. We are particularly interested in your feedback on our newly developed shared decision making tool for hormone treatment in order to induce puberty, but we are open for discussions on all issues related to puberty. For questions, more information and participation please send an email to d.r.dijk@umcg.nl or, during Conference call 0031 6 24796602.

The Voices of Mothers of Children with CHARGE Syndrome

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The College of New Jersey

Primary Researcher: Jerry Petroff

Target Population: Mothers of Individuals with CHARGE syndrome

Recent decades have brought increasing research on fathers’ roles in families and their contributions to children’s development and education. While research on fathers’ parenting experiences was once quite limited, a solid basis of work has emerged in the past decade. However, this research almost exclusively considers fathers of typically developing children and very few studies have considered the experiences of fathers of children with disabilities and even less attention to Syndrome was conducted during the CHARGE Syndrome Foundation’s Bi-Annual Conference. The results of that study continue to be analyzed and reported. However, to augment the results of a fathers of children with CHARGE Syndrome study that focused on their participation in care, development and education, this research seeks to identify the impressions of mothers. Themes from the ongoing research on fathers of children with CHARGE Syndrome and other complex disabilities will be compared with the results of this study.

Voices of Mothers (or those in a primary parent role) regarding the fathers (or those in a second parent role) will be documented through a semi-structured interview protocol that will last for 30-45 minutes in a private area at the Conference hotel. The focus will be their involvement in their children’s educational and medical settings, the quality of these partnerships with professionals, and factors that would optimize fathers’ involvement, trust and satisfaction in their children’s development and education from the perspective of the mothers.

Walking Gait Parameters of Individuals with CHARGE Syndrome With and Without Support

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West Chester University, PA

Primary Researcher: Elizabeth Foster

Target Population: Any individual with CHARGE who is able to ambulate with or without support.

The basics of the research project is to explore and analyze the walking gait parameters of individuals with CHARGE Syndrome with and without supportive devices.

Parents/guardians or adults with CHARGE syndrome will complete a quick online questionnaire hosted on Qualtrics regarding their child or adult with CHARGE syndrome basic information related to vision and hearing levels, gross motor milestones, and information about hospitalizations and surgeries which may impact and delay development.Then, participants will remove their shoes and put their feet in a chalk powder then walk across a black strip of butcher paper, 5 feet wide by 15 feet long. If the participant uses a walker or any supportive device needed it will be used to support their walk. Another trial will also be explored with physical support and spotting without the walker or supportive device per the permission of the parent/guardian or the adult individual.Marks on the paper will be made at the chalked footprints to be able to analyze gait step length, step width, stride length, swing phases, double support, and right and left phase from the footprints of the participant. Videos will be simultaneously collected with two ipads.

Feel free to contact Dr. Foster email efoster@wcupa.edu or text 267-241-3728