Aims/ Objectives: The focus of this work is a review of the literature to explore the frequency and severity of musculoskeletal abnormalities affecting lower limb structure and function in children and young adults with Down Syndrome (DS), and to consider the necessity, efficacy and timing of any putative intervention.
Content of Presentation: Down Syndrome is a chromosomal anomaly caused by an error in cell division that results in the presence of an additional third chromosome 21 or “trisomy 21.” This extra genetic material results in a recognisable pattern of developmental, learning and physical disabilities which affects individuals in different ways. The estimated incidence of Down Syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. In the United States, each year, approximately 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born. The UK incidence is reported as being 1 in every 1000 babies born. The condition is associated with a variety of co-morbidities and musculoskeletal problems: congenital heart disease is present in 50% of new-borns. Pes Planus (flat feet) is the most commonly recognised lower limb problem in people with Down syndrome with a reported prevalence of 60-90%, compared to 3-15% in a non-DS paediatric population.
Relevance/Impact: In Down Syndrome Pes Planus is generally attributed to hypotonia and ligamentous laxity, were the noted prevalence is 90% and 88% respectively. Other reported musculoskeletal lower limb and foot problems include postural alterations, obvious gait imbalance, inflammatory arthritis, scoliosis, patella instability, hallux valgus and talipes equinovarus. But yet there appears to be no standardised care pathways that guide the management of these conditions in paediatric Down syndrome specifically.
Outcomes: The almost universally reported joint laxity can be associated with delayed ambulation, with these children being at an increased risk of a variety of musculoskeletal disorders, delayed acquisition of motor milestones which can result in low levels of physical activity in children and adolescents with Down Syndrome. Incorrect or mistimed management of Pes Planus can lead to children being at risk of gait abnormalities, callus formation, repetitive ligamentous injury and the potential to develop bone spurs.
Discussion: Pes planus, despite its high prevalence appears to be either not rated as a problem or under recognised. This is possibly due to having a non-standardised approach to screening, assessment or classification of the severity of Pes Planus linked to Down Syndrome specifically. Nor does there appear to be any standardised care pathways with inclusion of foot screening. There is also much subjectivity as to the required treatment for the condition. Therefore there is a need to have early multi-disciplinary intervention and musculoskeletal examination, early consideration of orthotics and lifelong supportive footwear in order to effectively manage Pes Planus in paediatric Down Syndrome.