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

Abstract

PurposeIndividuals 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.MethodsSatisfaction surveys were distributed to 496 patients, and responses were received from 168 unique patients.ResultsSatisfaction 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.

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

“…The establishment of multidisciplinary clinics for XXY will significantly improve the quality of care and guidance offered to individuals and their families and will improve the patient’s and their family’s experience with the health care system (Tartaglia et al 2015). …”

The Klinefelter syndrome: current management and research challenges

“…In response to an opinion poll taken by the chairman Eberhard Nieschlag to determine whether individuals in the audience would or would not recommend terminating a pregnancy of an unborn baby with KS Nicole Tartaglia offered an important third choice that was not presented, namely providing counseling with updated, accurate information so that a woman and her partner could make their own decision about what was right for them (Tartaglia et al, 2015).…”

“…The multidisciplinary clinics in the USA are a fantastic example of what a clinic should look like! Nicole Tartaglia, as the director of an interdisciplinary clinic for children with XXY and other sex chromosome disorders in Colorado, USA called the eXtraordinarY Kids Clinic, definitely felt that it is advantageous for families to receive interdisciplinary care by experts who are up-to-date on research and who have experience with many previous patients (Tartaglia et al, 2015). 'When new families come to our clinic, they often express that previous providers were inexperienced with KS and often could not answer whether the neurodevelopment or medical findings of their children were related to KS, whereas specialized centers provide better care and patient satisfaction, integrating recommendations for medical and psychological care.…”

Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

“…It is important for children with KS who have attentional difficulties to have a neuropsychological evaluation that includes assessment of attention and EF, as well as other comorbidities that might present as inattention, such as learning disability, language disorder, or anxiety. 78,95,96 There is a positive response to treatment of ADHD symptoms with stimulant or nonstimulant ADHD medication in approximately 75% of patients, and thus a trial of medication(s) should be recommended as per standard ADHD treatment guidelines. However, as with other neurodevelopmental disorders, medications should be started at a lower dose and advanced conservatively while monitoring for side effects, and the contribution of comorbidities such as anxiety or learning disabilities should be considered if there is poor medication response or side effects.…”

“…In the US, more multidisciplinary clinics are being established to provide comprehensive care for children and adults with KS and other sex chromosome variations. 96 More research is needed to further define the natural history of KS in infancy and childhood with these unbiased populations, as well as understand genetic and environmental contributors to phenotypic variability and determine best practice screening and management guidelines for boys with KS.…”