Background/Purpose:  Musculoskeletal complications of Trisomy 21 (T21) are common.  Almost all children with T21 have muscle hypotonia and joint laxity.  The combination of this ligamentous laxity and low muscle tone contribute to an increased risk of a number of musculoskeletal disorders, a delay in acquisition of motor milestones and lower levels of physical activity.  Inappropriately low expectations of physical activity and motor function from family, health care workers and self, and over-attributing motor difficulties to low tone and hypermobility may lead to missed pathology and misdiagnoses.

Objective(s)

1. To describe the musculoskeletal anomalies observed in a national cohort of children with T21
2. To calculate the average age children with T21 walked unaided in our cohort

Methods:  Over an 18-month period, children with T21 were invited to attend for a musculoskeletal assessment by a paediatric doctor.  Relevant musculoskeletal history and clinical findings were documented.

Results:  503 children with T21 were examined (56% male).  Median age 8.1 years (0.6-19.2 years).  Musculoskeletal Anomalies and Trisomy 21.  Pes Planus was the most common musculoskeletal anomaly detected, occurring in 91.1% of the children with T21 examined.  Just under a quarter of these children did not avail of orthoses (23.6%). A range of other anomalies were observed, inflammatory arthritis (7.1%) and scoliosis (4.8%) occurring most frequently after pes planus.  Other spinal abnormalities included the well-documented T21 associated c-spine instability, absent C2 vertebra and spondylolisthesis.  Common hip and foot pathologies included dislocations, Perthes disease, slipped upper femoral epiphysis (SUFE) and hallux valgus.  Ambulation and Trisomy 21.  The median age our cohort walked was 28 months (12-84 months).  This is comparable to the literature that reports children with T21 walk at 23 months (range 13-48), compared with 12 months (range 9-17) for the general paediatric population.

Conclusion:  Children with T21 are at increased risk of a number of potentially debilitating musculoskeletal problems.  These conditions can present in a variety of ways, with differing symptoms and signs.  Pes planus is common therefore early consideration of orthotics and life-long appropriate supportive footwear is advised.  Significantly delayed ambulation is noted in children with T21.  Early multi-disciplinary intervention is important to ensure these children obtain their full potential with regards to acquisition of walking unaided.  Compulsory annual musculoskeletal assessment for all children with T21 would enable early detection of potential problems, allowing for timely intervention and in-turn better clinical outcomes.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/musculoskeletal-anomalies-in-children-with-trisomy-21/