The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy

J Multidiscip Healthc. 2015 Jul 17;8:323-34. doi: 10.2147/JMDH.S80242. eCollection 2015.

Abstract

Purpose: Individuals with sex chromosome aneuploidies (SCAs) are born with an atypical number of X and/or Y chromosomes, and present with a range of medical, developmental, educational, behavioral, and psychological concerns. Rates of SCA diagnoses in infants and children are increasing, and there is a need for specialized interdisciplinary care to address associated risks. The eXtraordinarY Kids Clinic was established to provide comprehensive and experienced care for children and adolescents with SCA, with an interdisciplinary team composed of developmental-behavioral pediatrics, endocrinology, genetic counseling, child psychology, pediatric neuropsychology, speech-language pathology, occupational therapy, nursing, and social work. The clinic model includes an interdisciplinary approach to care, where assessment results by each discipline are integrated to develop unified diagnostic impressions and treatment plans individualized for each patient. Additional objectives of the eXtraordinarY Kids Clinic program include prenatal genetic counseling, research, education, family support, and advocacy.

Methods: Satisfaction surveys were distributed to 496 patients, and responses were received from 168 unique patients.

Results: Satisfaction with the overall clinic visit was ranked as "very satisfied" in 85%, and as "satisfied" in another 9.8%. Results further demonstrate specific benefits from the clinic experience, the importance of a knowledgeable clinic coordinator, and support the need for similar clinics across the country. Three case examples of the interdisciplinary approach to assessment and treatment are included.

Keywords: Klinefelter syndrome; Turner syndrome; XXX; XXXXY; XXXY; XXY; XXYY; XYY; pentasomy X; prenatal diagnosis; tetrasomy X; trisomy X.