Sport and Exercise Medicine, English Institute of Sport, British Gymnastics, Wolverhampton Wanderers FC, Robert Jons and Agnes Hunt Orthopaedic Hospital, United Kingdom.
Radiology Department, Musgrave Park Hospital, Belfast Trust, Belfast, Northern Ireland.
Clin J Sport Med. 2020 Jul;30(4):293-295. doi: 10.1097/JSM.0000000000000642.
Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in every 1000 babies born in the United Kingdom affected. Patients with Down syndrome are at risk of atlantoaxial instability (AAI). Although AAI can occur in other conditions, such as rheumatoid arthritis, this position statement deals specifically with patients with DS and asymptomatic AAI. Atlantoaxial instability, also referred to as atlantoaxial subluxation, is defined as increased movement between the first (atlas) and second (axial) cervical vertebra joint articulation, the atlantoaxial joint. Atlantoaxial instability is reported to occur in 6.8% to 27% of the DS population, although this varies depending on the age of the patients whom you are screening. Less than 1% to 2% of these patients are then thought to later develop symptomatic AAI, although the natural history and progression of AAI is not well understood. The risks associated with AAI are neurological injury from excessive movement of the cervical vertebra impinging on and then damaging the spinal cord, although the risk of this during sporting activities is extremely rare. Clearly, physical activity and sports participation for patients with DS has many biological, psychological, and social benefits, and the Faculty of Sport and Exercise Medicine (FSEM), United Kingdom, wishes to promote safe physical activity and sport for all. The FSEM, United Kingdom, has therefore produced a statement regarding sport preparticipation screening for asymptomatic AAI in patients with DS.
唐氏综合征(DS)是一种临床综合征,其特征为典型的面部特征以及由于 21 号染色体上额外的遗传物质而导致的各种身体和智力残疾,英国每 1000 个新生儿中就有 1 个受到影响。唐氏综合征患者存在寰枢椎不稳定(AAI)的风险。虽然 AAI 也可能发生在其他疾病中,如类风湿关节炎,但本立场声明专门针对患有 DS 和无症状 AAI 的患者。寰枢椎不稳定,也称为寰枢关节半脱位,定义为第一颈椎(寰椎)和第二颈椎(枢椎)关节连接,即寰枢关节之间的运动增加。据报道,唐氏综合征患者中有 6.8%至 27%存在寰枢椎不稳定,尽管这取决于筛查的患者年龄而有所不同。但只有不到 1%至 2%的患者随后被认为会发展为有症状的 AAI,尽管 AAI 的自然史和进展尚不清楚。AAI 相关的风险是颈椎过度运动导致的神经损伤,从而压迫和损伤脊髓,尽管在运动活动中发生这种情况的风险极小。显然,唐氏综合征患者的身体活动和运动参与有许多生理、心理和社会益处,英国运动医学学院(FSEM)希望促进所有患者的安全身体活动和运动。因此,英国 FSEM 就无症状 AAI 的唐氏综合征患者运动前筛查问题发表了一份声明。