5 Tips for Caring for a Child with Down Syndrome

  1. Consider the entire spine
Cervical spine instability is well described in Down syndrome (18% incidence) and most commonly occurs at C1-C2 but can occur at occiput-C1 or anywhere in the cervical spine. ADI < 5 mm is considered normal, but ADI 5-10 mm in an asymptomatic patient can typically be observed. If ADI is > 10 mm, space available for the cord (SAC) is < 14 mm, or there is evidence of myelopathy, stabilization is recommended. Myelopathy often manifests as a change in gait or decreased manual dexterity.
Scoliosis and spondylolisthesis are also present at an increased frequency in Down syndrome but can be managed similar to idiopathic patients with regard to bracing and surgery indications.  
A.Space Available for cord (SAC) and Atlanto Dens Interval (ADI).     B.  New radiological parameters for the assessment of atlantoaxial instability  in children with Down syndrome | The Bone & Joint Journal
A. Illustration showing the ADI, which should be < 10 mm, and the SAC, which should be > 14 mm. B. Neutral upright lateral cervical spine radiograph demonstrating atlantoaxial instability.
 
  1. Consider the hips
Down syndrome is noteworthy for having severe ligamentous laxity. (Two genes for Type VI collagen are on chromosome 21, so you can think of T21 as a type of connective tissue disorder). In the hip, severe capsular laxity can result in delayed onset of severe hip dysplasia, subluxation, and dislocation. Some children can be habitual dislocators, which can complicate treatment and overall contribute to the high rate of post-operative complications.  Unlike DDH, the hips rarely start dislocated, but progress over time and therefore ongoing surveillance is needed. Given the progressive nature, treatment to prevent subluxation prior to dislocation is recommended, typically with osteotomies.
  1.   B.
  1. AP Pelvis of an 8 yo girl with T21 with bilateral hip subluxation. B. In the two months that it took to arrange her preop CT, her dysplasia progressed to dislocation. In some children, habitual dislocation can occur.
 
Hypothyroidism is not uncommon in Down syndrome and this is thought to result in the increased incidence of slipped capital femoral epiphysis (SCFE). Differential diagnosis for gait abnormalities, especially in combination with hip or knee pain should include SCFE, though myelopathy should also be considered with gait changes.
 
 
  1. Consider the knees
 
Patellofemoral instability, which is present in around 1/3 of patients with T21, is common due to the severe ligamentous laxity. This is sometimes associated with genu valgum. Treatment decisions are made on level of symptoms and ranges from bracing to surgery. Physical therapy is often limited due to developmental delays.Lateral release is unlikely to be helpful, whereas medial reefing and distal realignment procedures tend to be more helpful. If genu valgum is present, this may need to be corrected.
 
 
15 yo girl with T21 with right patellar instability. Patella alta noted with lateral subluxation present at baseline. Genu valgum contributes to her instability.
 
  1. Consider the foot
Along the common theme of ligamentous laxity explaining the orthopaedic manifestations with T21, children with T21 typically have a flexible flatfoot that can be quite dramatic in appearance. Hallux primus varus can also occur. These deformities typically cause minimal symptoms or functional impairment but can be a source of concern for parents. No further treatment beyond orthotics is typically indicated. In children presenting with concerns for pain, it is important to rule out more common upstream issues for pain such as hips, knees, or gait changes related to myelopathy being interpreted as pain by the family.
A.    B.
A. Foot radiographs of a 12 yo girl with T21. Hallux primus varus is noted on the standing AP view and the standing lateral (B) shows a negative sagittal Meary’s angle, typical of flexible pes planovalgus.
 
  1. Consider the co-morbidities
  • Approximately 50% of children with Down Syndrome have congenital heart defects, which are important to be aware of prior to surgical considerations/discussions. This most commonly takes the form of atrioventricular septal defects, ventricular septal defects, persistent ductus arteriosus and Tetralogy of Fallot.
  • Leukemia is more common in these children and you should have a low threshold of checking a CBC for fatigue or unexplained pain symptoms.
  • Down syndrome associated arthritis is an inflammatory condition affecting children that typically manifests with polyarticular pain and swelling. Similar to JIA, it tends to be seronegative for typical markers such as ANA or RF.
  • Premature aging can occur, including high incidence of degenerative joint disease and Alzheimer’s dementia. As care for people with T21 has improved, life expectancy has increased with life expectancy of 60 years. As a result, the functional limitations of this premature arthritis and arthritis related to hip subluxation is more profound.
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