Salbenblatt J A, Meyers D C, Bender B G, Linden M G, Robinson A
Pediatrics. 1987 Aug;80(2):240-4.
Neuromuscular deficits described in early childhood as motor awkwardness or slow movements are still clinically present in school-aged boys with XXY and XYY sex chromosome aneuploidy. A control group of 14 boys (6 to 19 years of age) and 14 XXY and four XYY boys (6 to 15 years of age), identified by newborn screening, were blindly evaluated by a physical therapist. The Bruininks-Oseretsky Test of Motor Proficiency (BOTMP) was administered and a clinical rating of neurologic status and sensory-motor integration was assigned. On the motor proficiency test, the XXY boys had significantly lower mean scores for upper limb coordination, speed and dexterity, and on gross motor and battery composites. The neuromuscular status of the aneuploid boys was deficient, with hypotonia, apraxia, primitive reflex retention, and problems with bilateral coordination and visual-perceptual-motor integration. This mild to moderate dysfunctional sensory-motor integration, as well as previously described auditory-processing deficits and dyslexia, contributed to school performance below that expected from their cognitive potential.
在幼儿期被描述为运动笨拙或动作迟缓的神经肌肉缺陷,在患有XXY和XYY性染色体非整倍体的学龄男孩中在临床上仍然存在。通过新生儿筛查确定的14名男孩(6至19岁)的对照组以及14名XXY男孩和4名XYY男孩(6至15岁),由一名物理治疗师进行盲法评估。进行了布鲁宁克斯-奥塞瑞斯基运动技能测试(BOTMP),并对神经状态和感觉运动整合进行了临床评分。在运动技能测试中,XXY男孩在上肢协调性、速度和灵巧性以及大运动和综合测试中的平均得分显著较低。非整倍体男孩的神经肌肉状态存在缺陷,表现为肌张力减退、失用症、原始反射保留以及双侧协调和视觉-感知-运动整合方面的问题。这种轻度至中度的感觉运动整合功能障碍,以及先前描述的听觉处理缺陷和诵读困难,导致他们的学业成绩低于其认知潜力所预期的水平。