Needham Mary, Packman Wendy, Rappoport Maxwell, Quinn Natasha, Cordova Matthew, Macias Sandra, Morgan Cynthia, Packman Seymour
Pacific Graduate School of Psychology, Palo Alto University, Palo Alto, CA, USA.
J Genet Couns. 2014 Jun;23(3):330-8. doi: 10.1007/s10897-013-9665-4. Epub 2013 Nov 6.
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a chronic and progressive X-linked lysosomal disease that mainly affects males. It occurs in 1 in every 65,000 to 1 in 132,000 births. There are two distinct forms of the disease based on age of onset and clinical course: mild and severe. MPS II affects many organ systems including the nervous, cardiovascular, gastrointestinal and respiratory systems. Complications can include vision problems, progressive hearing loss, thickened and elastic skin, mental impairment, and enlarged liver and spleen. We herein focus on the adaptive behavior of individuals with MPS II, and the impact of MPS II on the family system. Outcomes from the Vineland-II Adaptive Behavior Scales showed that the MPS II patient sample experienced significantly lower functioning in communication, daily living skills, socialization, and motor skills compared to normative data. Patients with severe MPS II were found to have significantly lower adaptive functioning in all domains, as compared to those with mild MPS II. Length of time on ERT had no significant relationship to adaptive functioning. Results from the Peds QL Family Impact Module indicated that families of patients with MPS II experienced a lower overall health-related quality of life and overall lower family functioning (including lower emotional and cognitive functioning) than those with chronic illnesses residing in an inpatient setting.
II型粘多糖贮积症（MPS II），又称亨特综合征，是一种慢性进行性X连锁溶酶体疾病，主要影响男性。其发病率为每65000至132000例出生中有1例。根据发病年龄和临床病程，该病有两种不同形式：轻度和重度。MPS II会影响多个器官系统，包括神经、心血管、胃肠道和呼吸系统。并发症可能包括视力问题、进行性听力丧失、皮肤增厚且有弹性、智力障碍以及肝脏和脾脏肿大。我们在此重点关注MPS II患者的适应性行为，以及MPS II对家庭系统的影响。文兰适应行为量表第二版的结果显示，与常模数据相比，MPS II患者样本在沟通、日常生活技能、社交和运动技能方面的功能显著较低。与轻度MPS II患者相比，重度MPS II患者在所有领域的适应性功能显著更低。接受酶替代疗法（ERT）的时间长短与适应性功能无显著关系。儿童生活质量量表家庭影响模块的结果表明，与住院的慢性病患者家庭相比，MPS II患者的家庭总体健康相关生活质量较低，家庭功能总体较低（包括情感和认知功能较低）。
