Tartaglia Nicole, Howell Susan, Wilson Rebecca, Janusz Jennifer, Boada Richard, Martin Sydney, Frazier Jacqueline B, Pfeiffer Michelle, Regan Karen, McSwegin Sarah, Zeitler Philip
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA ; Child Development Unit, Children's Hospital Colorado, Aurora, CO, USA.
Child Development Unit, Children's Hospital Colorado, Aurora, CO, USA.
J Multidiscip Healthc. 2015 Jul 17;8:323-34. doi: 10.2147/JMDH.S80242. eCollection 2015.
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.
Satisfaction surveys were distributed to 496 patients, and responses were received from 168 unique patients.
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.
性染色体非整倍体（SCA）患者出生时X和/或Y染色体数量异常，并存在一系列医学、发育、教育、行为和心理问题。婴幼儿和儿童SCA的诊断率正在上升，因此需要专门的跨学科护理来应对相关风险。非凡儿童诊所的设立是为了为患有SCA的儿童和青少年提供全面且经验丰富的护理，其跨学科团队由发育行为儿科学、内分泌学、遗传咨询、儿童心理学、儿科神经心理学、言语语言病理学、职业治疗、护理和社会工作等专业人员组成。该诊所模式采用跨学科护理方法，将各学科的评估结果整合起来，以形成统一的诊断意见并为每位患者制定个性化的治疗方案。非凡儿童诊所项目的其他目标包括产前遗传咨询、研究、教育、家庭支持和宣传。
向496名患者发放了满意度调查问卷，共收到168名不同患者的回复。
85%的患者对诊所的整体就诊体验评价为“非常满意”，另有9.8%的患者评价为“满意”。结果进一步证明了诊所体验带来的具体益处、知识渊博的诊所协调员的重要性，并支持在全国设立类似诊所的必要性。文中还包含了三个跨学科评估和治疗方法的案例。
