The Diagnostic Capacity of Physical Examinations in Diagnosing Musculoskeletal Disorders of the Lower Limbs in Children with Down Syndrome

Background and Objectives: although musculoskeletal alterations are common in patients with Down syndrome (DS), studies investigating this association are scarce, and proposals for diagnostic standardization are limited. We aimed to evaluate the prevalence of musculoskeletal disorders in the lower limbs in a sample of children and adolescents with DS and to investigate the diagnostic capacity of orthopedic clinical examinations performed by orthopedists and pediatricians to diagnose these alterations. Materials and Methods: Twenty-two patients aged between three and ten years with DS were included. Patients and guardians answered a simple questionnaire regarding orthopedic complaints and underwent a systematic orthopedic physical examination, performed twice: once by an orthopedist and again by a pediatrician. Patients underwent a series of radiographs to diagnose anisomelia, hip dysplasia, epiphysiolysis, flatfoot valgus, mechanical axis varus, and mechanical axis valgus. The radiological diagnosis was considered the gold standard, and the diagnostic capacity of the physical examination performed by each physician was determined. Results: The median age was 6.50 years. Only four patients (18.2%) presented with orthopedic complaints. All patients were diagnosed with at least one musculoskeletal disorder. The only musculoskeletal disorder with a good diagnostic capacity was flatfoot valgus. Limited sensitivity values were found for hip dysplasia, mechanical axis varus, and mechanical axis valgus. The agreement between the orthopedic physical examinations performed by the two examiners was weak, poor, or indeterminate for most of the analyzed items. Conclusions: There was a high prevalence of orthopedic alterations in children with DS who did not present with musculoskeletal complaints. The diagnostic capacity of the physical examination was limited. Therefore, all children with DS should undergo a radiological evaluation of the musculoskeletal system and subsequent specialized orthopedic evaluation. Level of Evidence: Level II (Diagnostic Studies).