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Sport Preparticipation Screening for Asymptomatic Atlantoaxial Instability in Patients With Down Syndrome
Christopher Tomlinson1, Alastair Campbell2, Alison Hurley3
1Sport and Exercise Medicine, English Institute of Sport, British Gymnastics, Wolverhampton Wanderers FC, Robert Jons and Agnes Hunt Orthopaedic Hospital, United Kingdom.
Insights
Patients with Down syndrome (DS) have a risk of atlantoaxial instability (AAI). This statement addresses screening for asymptomatic AAI in DS patients to promote safe sports participation.
Area of Science:
- Genetics and Human Health
- Orthopedics and Sports Medicine
- Developmental Disabilities
Background:
- Down syndrome (DS) is a genetic condition caused by trisomy 21, affecting approximately 1 in 1000 UK births.
- Individuals with DS have an increased prevalence of atlantoaxial instability (AAI), a condition involving excessive movement in the upper cervical spine.
- While AAI is often asymptomatic in DS patients, it carries a risk of neurological complications if it progresses.
Purpose of the Study:
- To provide a position statement on preparticipation screening for asymptomatic atlantoaxial instability (AAI) in patients with Down syndrome (DS).
- To guide the Faculty of Sport and Exercise Medicine (FSEM) in promoting safe physical activity and sports for individuals with DS.
- To address the specific concerns of AAI in the DS population, distinct from other causes like rheumatoid arthritis.
Main Methods:
- Review of existing literature and clinical data on atlantoaxial instability in Down syndrome.
- Development of a position statement by the Faculty of Sport and Exercise Medicine (FSEM), United Kingdom.
- Focus on screening asymptomatic individuals with DS for AAI.
Main Results:
- Atlantoaxial instability (AAI) is reported in 6.8% to 27% of the Down syndrome (DS) population, with variability based on screening age.
- Less than 1-2% of DS patients with AAI are estimated to develop symptomatic instability.
- The natural history and progression of AAI in DS remain not well understood, despite rare risks during sports.
Conclusions:
- Preparticipation screening for asymptomatic atlantoaxial instability (AAI) is crucial for individuals with Down syndrome (DS) engaging in sports.
- Promoting safe physical activity is a key objective, balancing the benefits of exercise with the potential risks of AAI.
- This statement provides guidance for healthcare professionals and sports organizations to ensure the well-being of DS athletes.
Abstract:
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.
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