1. Orthopaedic Issues in Persons with Down Syndrome
Dr R Sankar, D Ortho.,FRCSI, FRCS(Ortho).
Consultant Orthopaedic Surgeon
Chennai.

2. Down Syndrome John Langden Down 1866
Most common chromosomal abnormality in humans
Variety of medical conditions are found in persons with Down syndrome

3. Life Expectancy
Medical conditions affect life expectancy & level of function
As treatment of associated medical conditions (eg. Heart problems) improved, life expectancy has increased

4. Quality of Life Good motor function Children <11 years 11-30 years
A prerequisite to integrate into mainstream society and lead independent, fulfilling lives.
Children <11 years
Immobility & tube feeding are poor predictors
11-30 years
Ambulation is the best predictor

5. Orthopaedic Issues
Hypotonia (low muscle tone), Generalised Ligamentous Laxity & Joint Hypermobility
Cervical Spine (Neck) Instability
Scoliosis (Curvature of spine)
Hip Instability
Patellar (Knee cap) Instability
Knee & Foot Disorders
Arthropathy of Down Syndrome

6. Natural History
Natural history for most of orthopaedic issues not fully understood
May cause pain and disability in adulthood when not treated

7. (Neck) Cervical Spine Instability
The incidence 10–15%
Instability can occur at the atlantoaxial or occipito-cervical joint.
Delayed recognition of this condition may result in irreversible spinal-cord damage.

8. Cervical Spine Instability
What age should you suspect?
What is the common signs and symptoms to give a clue for diagnosis?
When will you investigate?
When is treatment needed?

9. Cervical Spine Instability
What age should you suspect?
5-15 years
Most children are asymptomatic
1-2 % children will have symptomatic instability

10. Cervical Spine Instability
What are the common signs and symptoms to give a clue for diagnosis?
Neck pain
Sensory deficits (pins & needles, numbness)
Bladder incontinence
Subtle symptoms
Decreased tolerance for activities
Altered gait
Loss of ambulatory skills

11. Cervical Spine Instability
When will you investigate?
Controversial
First screening at 5 years
Special Olympics
Not allowed to participate in contact sports if instability noted
Before receiving anaesthesia for surgical procedures

12. Management of Upper Cervical Spine Instability
No Instability
Regular follow up once in 2-3 years with xrays
Instability, but asymptomatic
Regular follow up every year with xray, if possible MRI
Educate parents
Activity modification
Instability and symptomatic
Surgical treatment

13. 6 yr old girl presented with quadriparesis following a trivial fall
MRI
Flexion
Extension

14. Management
Post-op
1 yr follow up

15. Scoliosis (Spine Curvature)
Incidence is about 7%
Two types
Post thoracotomy
Similar to idiopathic type
All children needs clinical examination
Management
Bracing for smaller curves
Surgery for larger curves

16. Hip Instability Incidence 2-5%
Children will have stable hips before walking
Subluxation and dislocation develop later
Dislocation can be either acute or habitual

17. Hip Instability Acute dislocation Habitual (repeated) dislocation
7-8 years
Sudden onset of limp or refusal to walk
MUA and immobilasation
Habitual (repeated) dislocation
Hips dislocate without trauma and reduce on its own
Repeated dislocation leads to arthritis
Surgical reconstruction to minimize long term problems

18. 12 year old girl with habitual dislocation

19. Slipped Capital Femoral Epiphysis
1.3%
May be due to endocrine issues
Pain around knee, thigh
Usually unstable and high grade
Increased risk of avascular necrosis
Surgical treatment

20. Slipped Capital Femoral Epiphysis

21. Patello femoral Instability
Incidence 10-20%
Different stages by degree of laxity
Subluxation
Dislocation, but able to reduce
Dislocation, inability to reduce
Frank patellar dislocation in 2-8 % of patients
Able to walk even with dislocated patella

22. Patello femoral Instability
Non surgical Management
Knee brace
Activity modification
Surgical Management
When there is persistent symptoms in spite of conservative treatment
Surgery improves gait

23. Knock Knees Usually not severe
Occasionally, may progress to impair walking

24. Knock Knees

25. Knock Knees

26. Foot Deformities
Bony deformity of forefoot
Flat foot

27. Treatment of Foot Disorders
Mostly conservative
Flat foot
Heel cord stretching exercises for flat feet
Wide shoes with appropriate arch support
Special shoes if deformities are moderate
Surgical correction, if
Deformities are severe
Rigid & Painful

28. Arthropathy of Down Syndrome
Occur in 1.2 % of patients
Similar to JRA
Polyarticular, progressive with subluxation of joints
Only medical management
Involve Rheumatologist early

29. Anaesthetic risk
It is a disease characterized with Multisystem involvement, posing a lot of challenges for anesthesia
Cardiovascular – % have congenital heart defects, atrioventricular septal defects being the most common

30. Anaesthetic Risk Difficult airway due to
Large tongue
Atlantoaxial instability [caution during neck handling]
Higher risk for respiratory adverse events during anesthesia due to
Recurrent respiratory infections
Obstructive sleep apnea

31. Healing issues Infection Delayed wound healing Non union
Resorption of bone graft in spine surgery

32. Summary
20% of all patients with Down syndrome experience orthopedic problems.
Upper cervical spine instability has the most potential for morbidity and, consequently, requires close monitoring.
Scoliosis, hip instability, patellar instability and foot problems can cause disability if left untreated.
In some of these conditions, early diagnosis can prevent severe disability.

33. Since approximately 20% of persons with Down syndrome have associated orthopaedic issues, orthopedic surgeons must be involved in the care of these individuals to help provide a mobile and pain-free life.

34. Thank you.