Appendix 25 – Musculoskeletal complications and Referral form for Orthotics

Background/summary:

“Musculoskeletal complications of Down Syndrome (DS) are common but infrequently reported. The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. The combination of ligamentous laxity and low muscle tone contributes to an increased risk of a number of musculoskeletal disorders, such as C-spine instability, hip instability, scoliosis and foot problems.   A delay in acquisition of motor milestones and lower levels of physical activity in children with DS have been observed. Reduced physical activity contributes to the development of lower bone mass, obesity, and a failure to develop or maintain maximum possible muscle strength. Inappropriately low expectations of physical activity and motor function from family, healthcare workers and self-feed into this cycle. Conversely, however, over-attributing motor difficulties to low tone and hypermobility may lead to missed pathology and misdiagnoses.” 

“Children with DS are at increased risk of a number of potentially debilitating musculoskeletal (MSK) problems. These conditions can present in variable manners or be completely asymptomatic. Pes planus is common; therefore, early consideration of orthotics and lifelong appropriate supportive footwear should be considered. Delayed ambulation is frequently noted.”

Musculoskeletal anomalies in children with Down Syndrome: an observational study.  Archives of Disease in Childhood Published Online First: 24 November 2018. doi: 10.1136/archdischild-2018-315751. Foley C, Killeen OG.

Down Syndrome Arthropathy

“A significant proportion of children with DS have arthritis; however, despite a high prevalence, it is often missed, leading to delayed diagnosis.  An annual musculoskeletal assessment for all children with DS could potentially enable early detection of problems, allowing for timely multidisciplinary team intervention and better clinical outcomes.”  Arthropathy in DS is not the same as Juvenile Idiopathy Arthropathy (JIA) and presents differently.

History tip

Ask about change in stamina/exercise tolerance – is it worse in the morning? less able/mobility? Take the history seriously.  

Examination tip:

Look for swelling and pain at wrists, fingers, toes.  Examine the hips and do an MSK examination.  Can they do the prayer sign? 

Investigation tips

Xrays of the wrists/hands and looking for erosions and other similar pattern to “psoriatric arthropathy.”  Often rheumatoid factor negative, could have “normal bloods.”  An MRI with gadolinium contrast is useful of the main joint you are looking for. 

Orthotics

Research has shown that two thirds of children with DS have inversion etc and benefit from Orthotics.  This above research suggested that 91% of children with Down Syndrome have pes planus (flat feet).  “Children with Down Syndrome as a result of having normal to mild low tone have a higher incidence of foot pronation and requirement of orthotic. This does not mean that every child needs insoles and Piedro boots. Far from it. A good ankle boot (including insole) can be purchased from regular good shoe shops. Foot posture needs to be assessed and provided for on an individual basis. Physiotherapists review foot posture once they are up and walking (just prior to their discharge) so their orthotic need for referral is covered during this period. Part of pre-discharge assessment is to review foot posture - physiotherapists make it clear of what we are looking out for and that needs for orthotics can change as a child grows bigger / heavier. They also encourage parents to review their child’s foot posture when thinking of buying new shoes.” 

Claire Andrews, Barnet senior paediatric physiotherapist.

Referrals to orthotics- Children’s Surgical Appliance Form 

Orthotics Service, Oak Lane Clinic, Oak Lane, East Finchley, London N2 8LT.  Telephone: 020 8349 7057/Fax: 020 8371 9447.  Email: CLCHT.OrthoticsBarnet@nhs.net  (email for a form) or can write a referral letter directly.

Good practice to discuss with the child’s physiotherapist, if they have one, first.  In the special schools in Barnet the paediatric orthotist comes into schools so it can be something to mention on your form or referral letter or to discuss with the school physiotherapist or school nurse.