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Children with sex chromosome aneuploidies (SCAs) present with a range of medical, developmental, educational, behavioral and psychological concerns. This is a common, yet under-diagnosed, group of genetic conditions in which an individual is born with an abnormal number of X and/or Y chromosomes. Klinefelter syndrome (XXY) or XXYY syndrome are examples of SCA conditions in males, and Trisomy X (47,XXX) in females. Each of the multiple SCA variations comes with its own set of medical and physical features. Children with SCAs also experience a higher incidence of medical conditions.
This patient population needs comprehensive care from many different providers, yet providers lack evidence-based treatment recommendations. Most children receive care in a genetics clinic, and from a pediatric endocrinologist. Beyond these specialties, there's little expertise with sex chromosome aneuploidy among other medical providers, psychologists, developmental pediatricians and other specialists/therapists involved in the care of children with a sex chromosome aneuploidy.
Children's Hospital Colorado established the eXtraordinarY Kids Clinic in 2007 to address the complex needs of children with sex chromosome aneuploidies through a multidisciplinary approach. Providers integrate the results of a patient's assessments across each discipline to create an individualized treatment plan. The clinic also provides prenatal genetic counseling, research, education, family support and advocacy. Since opening, more than 550 patients have been seen from Colorado and across the world.
The clinic is composed of a primary team of specialists from different disciplines including:
A survey was launched in 2011 to evaluate satisfaction with clinical services provided by eXtraordinarY Kids Clinic team members, perceived benefits of the evaluations and overall satisfaction with Children's Colorado clinical processes. The survey was sent four to six weeks after a patient visited the clinic from mid-2011 to the end of 2013. Of the 496 surveys sent, 168 were completed and returned.
Families were asked to rate their overall satisfaction with clinic operations and quality of care. Respondents were also asked to select all the benefits they experienced from the visit from a list of 13. An open text section asked participants to list the most helpful aspects of the clinic and to provide suggestions for improvement.
Overall satisfaction results are below:
Each specialist was also evaluated and mean scores ranged from 4.63 to 4.95 on a scale of 1 to 5 ("very good"). Results demonstrated high satisfaction for all team members; the highest satisfaction scores were reported for the genetic counselor who also serves as the clinic coordinator.
The three most commonly reported benefits for parents from a clinic visit indicated an overall improved understanding of the child, the diagnosis and the support needed.
These results further validate specific benefits from the clinic experience, the importance of a knowledgeable clinic coordinator and the need for similar clinics across the country.
The multidisciplinary approach allows children with sex chromosome aneuploidies and their parents to understand how different features of the syndrome may be contributing to their health, behavior, learning and overall daily functioning.
The clinic has since expanded to include a program for Turner syndrome. The eXtraordinarY Kids Clinic model has been selected by AXYS, the national advocacy organization for X and Y chromosome disorders, as a model of care for developing similar clinics across the country.