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Downs Syndrome

Trisomy 21 or Down’s Syndrome

Objectives:

  1. Understand the orthopedic and non-orthopedic issues associated with Down’s syndrome (DS).
  2. Know the issues involved in the cervical spine in DS.
  3. Have an understanding of the hip issues involved in DS.
  4. Know the major knee issue occurring in DS.
  5. Know the major foot issues occurring in DS.

The Down’s syndrome (DS) or trisomy 21 is the most common. It is typically a complete translocation risk for a subsequent child of 1%. It may also result from partial translocations or mosaicism with typically less abnormalities. It is associated with maternal age over 40 years.

Multiple organ systems are involved. Cardiac abnormalities may be severe and life threatening. Patients can also have endocrine abnormalities including diabetes and hypothyroidism. They are more prone to leukemia than other children and, as adults, are subject to premature dementia with similar finding to Alzheimer’s disease. Many reports indicate a higher infection and non-union rate in DS patients than in others.

Nearly 20% of DS patients have musculoskeletal disorders. These are primarily those associated with severe ligamentous laxity including upper cervical instability, patellar and hip dislocations, and severe flatfoot and bunion deformities. They may also present with a polyarticular arthritis with subluxations and swelling. These patients should have a rheumatologic evaluation.

By far the most worrisome musculoskeletal abnormality because of the potential morbidity and mortality is upper cervical or occipital cervical instability. It is also very controversial. The American Academy of Pediatrics has recommended against general screening, but the Special Olympics require cervical spine screening for participation. Most symptomatic instability presents between ages 5 and 15, and progression of otherwise normal cervical spines is very unusual. Instability may occur between C1 and C2 or the occiput and C1. The most common clinical symptom is a wide based gait, and other signs should be sought such as clonus or a positive Babinski reflex. The atlantodens interval (ADI >7mm) and space available for the cord can be helpful for atlantoaxial instability, but a carefully positioned flexion/extension MRI provides the best detail of both occiput-C1 and C1-C2. In DS with asymptomatic instability, the decision to intervene is controversial, but, as a minimum, the children should be restrained from potentially traumatic sports such as tumbling. Historically, surgery for DS cervical instability has a high rate of non-union and complications. This may be improved with modern instrumentation with recent reports having low complication rates. Subaxial instability may be more problematic than upper cervical instability in DS adults (personal communication). Scoliosis can also occur, and is typically treated similar to idiopathic curves. Neuromonitoring is recommended for surgery.

The hips in DS can be very difficult to treat. They are subject to spontaneous dislocation with otherwise normal appearing hip joints on radiograph. Four stages have been described – initial, subluxation, dislocation, and fixed. In the early phases, the hips can be reduced and will sometimes respond to immobilization. Several surgical recommendations have been made including addressing femoral anteversion and capsular redundancy or both femoral and acetabular osteotomies with success. In older patients, successful periacetabular osteotomies and total hip arthroplasty have both been reported. Slipped capital femoral epiphysis can also occur and may be associated with hypothyroidism.

Patellar instability may be either dynamic and reducible or fixed and irreducible. Ultrasound has been described in young children to make the diagnosis, but its early utility other than counseling is doubtful. Numerous surgical procedures have been described, all of which appear to have a higher failure rate in DS than in normal children.

The overall ligamentous laxity and genu valgum can lead to very severe flatfoot deformity. Generally, the deformities are asymptomatic. When painful, they can often be successfully treated with orthotics, and surgery is rarely necessary.

Key Points:

  • DS is associated with cardiac disease, leukemia, hypothyroidism, early Alzheimer’s disease and arthropathy.
  • Occipital cervical and atlantoaxial instability can be dangerous, and, when present, may require fusion.
  • Hip dislocations require various treatments based upon their stage.
  • Patellar dislocation may be difficult to treat.

More In-Depth Knowledge:

  • Various methods of occipital cervical fusion and stabilization.
  • Methods for treating the dislocating hip in DS based upon the stage and anatomy.
  • Various methods for patellar stabilization.

Reference List

  1. Mik G, Gholve PA, Scher DM, Widmann RF, Green DW. Down syndrome: orthopedic issues. Curr Opin Pediatr 2008 Feb;20(1):30-6.
  2. Tassone JC, Duey-Holtz A. Spine concerns in the Special Olympian with Down syndrome. Sports Med Arthrosc 2008 Mar;16(1):55-60.
  3. Mizobuchi RR, Galbiatti JA, Quirici NF, Milani C, Fujiki EN, de Oliveira HC, et al. Ultrasonographic study of the femoro-patellar joint and its attachments in infants from birth to 24 months of age. Part II: children with Down syndrome. J Pediatr Orthop B 2007 Jul;16(4):266-8.
  4. Caird MS, Wills BP, Dormans JP. Down syndrome in children: the role of the orthopaedic surgeon. J Am Acad Orthop Surg 2006 Oct;14(11):610-9.
  5. Katz DA, Kim YJ, Millis MB. Periacetabular osteotomy in patients with Down's syndrome. J Bone Joint Surg Br 2005 Apr;87(4):544-7.
  6. Martin K. Effects of supramalleolar orthoses on postural stability in children with Down syndrome. Dev Med Child Neurol 2004 Jun;46(6):406-11.
  7. Woolf SK, Gross RH. Posterior acetabular wall deficiency in Down syndrome. J Pediatr Orthop 2003 Nov;23(6):708-13.
  8. Merrick J, Ezra E, Josef B, Hendel D, Steinberg DM, Wientroub S. Musculoskeletal problems in Down Syndrome European Paediatric Orthopaedic Society Survey: the Israeli sample. J Pediatr Orthop B 2000 Jun;9(3):185-92.
  9. Brockmeyer D. Down syndrome and craniovertebral instability. Topic review and treatment recommendations. Pediatr Neurosurg 1999 Aug;31(2):71-7.
  10. Greene WB. Closed treatment of hip dislocation in Down syndrome. J Pediatr Orthop 1998 Sep;18(5):643-7.
  11. Pueschel SM. Should children with Down syndrome be screened for atlantoaxial instability? Arch Pediatr Adolesc Med 1998 Feb;152(2):123-5.
  12. Atlantoaxial instability in Down syndrome: subject review. American Academy of Pediatrics Committee on Sports Medicine and Fitness. Pediatrics 1995 Jul;96(1 Pt 1):151-4.

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