Ongoing research projects in CHARGE syndrome

Growth charts for children with CHARGE syndrome

At the moment, the growth of children with CHARGE syndrome is recorded on growth charts designed for typical children. This is not ideal, since growth delay is part of CHARGE syndrome and these children may follow a specific growth curve under healthy conditions. In addition, the growth of children with CHARGE syndrome can be affected by other clinical features associated with the syndrome, like severe heart defects.

In ongoing work in our multidisciplinary CHARGE outpatient clinic, we have been collecting information to develop growth charts specifically for these children based on international case data. This project is being conducted in an international collaboration, coordinated by the UMCG. Moreover, we want to investigate the effect of several clinical features on the growth of patients with CHARGE.

Ultimately, we will make specific CHARGE syndrome growth charts available online as an interactive version for use by clinicians, patients and parents. Users will be able to print the individual patient’s growth curve for height, weight and head circumference on specific CHARGE syndrome growth diagrams. These growth charts will provide insight into children’s growth when they have CHARGE syndrome and help to reassure parents that their child’s growth is within the normal range for children with this syndrome.

Puberty induction in CHARGE syndrome

Due to hypogonadotropic hypogonadism, 60-88% of children with CHARGE syndrome have no spontaneous pubertal development and need hormone replacement therapy. There is no consensus among pediatric endocrinologists about the preferred method to induce puberty. At our multidisciplinary CHARGE outpatient clinic, especially parents of boys with CHARGE syndrome expressed concerns about the effects of treatment, including concerns about increase of behavioral problems.

We want to learn more about the experiences patients, parents and doctors have with puberty induction and how their experiences could help future patients to make a decision about treatment. We conducted in-depth interviews with patients, parents and pediatric endocrinologists and are currently working on the development of a shared-decision making tool to help facilitate the decision-making process.

This study is funded by stichting vrienden Beatrix kinderziekenhuis.

Early motor development in CHARGE syndrome

Database for CHD7 mutations

In a rare syndrome like CHARGE syndrome, in which the mutations are often unique, it is important to know whether a mutation or variant has been described before. We therefore constructed an online database in which genomic CHD7 variants are being recorded. The database is accessible at http://www.CHD7.org and is being continually updated.