Growth and Development Study
While observations that children with ichthyosis may experience growth delay has long been noted by physicians, data regarding the average growth metrics for children with ichthyosis and how these metrics compare to population averages are not present in the current literature. Beginning to fill the literature gap regarding growth delay and children with ichthyosis is the primary aim of this study. Currently, physicians and families have no data on how a child’s ichthyosis may be associated with lower expected height, weight, head circumference, and growth velocity, thus making expectant management and possible appropriate intervention challenging. Understanding how the different types of ichthyoses are associated with childhood development will allow physicians and parents to intervene in early childhood with tools like supplemental nutrition and gastrostomy tubes if intervention is indicated. As we further understand how differences in development are tied to ichthyosis and which interventions might be effective in mitigating these differences, we may be able to use treatments to bring children with ichthyosis closer to the growth averages for children of their same age and sex. This effect could not only lead to better longitudinal health outcomes for these children but would also reduce some of the stigmatizing features of ichthyosis surrounding the smaller stature of these individuals.
This study will investigate the relationship between ichthyosis type and childhood development by analyzing height, weight, head circumference, and growth velocity data from pediatric growth records. The average metrics for children with ichthyosis will be compared to metrics from two groups: the population and siblings without ichthyosis. We request access to sibling pediatric records as well as records from affected children so that siblings may serve as a critical reference group. Since siblings share both their environment and fifty percent of genes with their affected brothers and sisters, they are a strong point of developmental comparison. We look forward to sharing our findings with you and your families and thank you for your interest and participation in this study.
Does Ichthyosis Affect Growth and Development: A New Registry Study
It has long been observed by physicians that children with ichthyosis can be smaller in stature compared to children without ichthyosis. Dr. Mary Williams who is faculty at the University of California San Francisco and a member of the FIRST Medical and Scientific Advisory Board is one physician who has postulated that growth delay may be more closely tied to certain types of ichthyoses1. Currently, there is no study that has systematically examined this potential association between growth delay and ichthyosis types in a large group despite these long-standing observations. Understanding the relationship between delayed growth and specific genetic types of ichthyoses could allow physicians and parents to intervene early by providing supplemental nutrition and other treatments, which may mitigate decreased growth among children with ichthyosis.
Dr. Keith Choate, at the Yale School of Medicine, is conducting a study via The National Registry for Ichthyosis and Related Skin Types, to examine growth in childhood in individuals with ichthyosis. We are seeking to enroll those with ichthyosis under the age of 25. The study requires completion of an electronic consent form and a medical record release to obtain childhood growth chart data from pediatricians or other providers. If you or your child are interested in learning more about the study or would like to participate, please contact The Registry Team at firstname.lastname@example.org. Thank you – we are excited to work with you!
- Williams, M. (2005). Growth failure in children with severe ichthyosis. Foundation for Ichthyosis and Related Skin Types. https://www.firstskinfoundation.org/growth-failure-in-children-with-severe-ichthyosis-2005
Why is the project important?
Currently, there is no large-scale study that has examined the potential association between growth delay and ichthyosis types.
Who can participate?
All people age 25 and younger who have been diagnosed with any type of ichthyosis are invited to participate.
What is needed to participate?
The study requires completion of an electronic consent form and a medical record release to obtain childhood growth chart data from pediatricians or other providers. Filling out the consent form should take no longer than five minutes.
How can I participate or learn more about the study?
To participate, please fill out the electronic consent form and a medical record release here: https://yalesurvey.ca1.qualtrics.com/jfe/form/SV_0vv5YDxBZdbUD9Y.
To find more information, please visit https://medicine.yale.edu/ycci/trial/clinical-and-genetic-studies-of-inherited-skin-disorders/ or email email@example.com.