Q. When children present to primary care with hypermobility, what features would warrant a referral?
A. Hypermobility is common within the general population. Many with hypermobility do not experience pain or significant difficulties. Symptomatic hypermobility refers to a collection of symptoms that can occur in addition to the presence of hypermobility including joint/muscle aches post-exercise/end of the day/at night, stiffness post-exercise, fatigue, poor sleep, postural problems and clicking joints. Often there is a strong family history with females affected more than males. The focus of managing these patients should include establishing realistic expectations, encouraging full function and participation in their usual activities.
A small number of patients can present with other additional features that may necessitate referral to paediatric rheumatology. Additional features include skin hyperextensibility, easy bruising, skin thinning, related cardiac or ocular issues. These features in association with hypermobility can be suggestive of an inherited collagen disorder such as Ehlers–Danlos syndrome, Marfan’s syndrome or osteogenesis imperfecta. Other indications for referral include persistent pain, functional limitation, asymmetrical hypermobility, suspicion of a related inflammatory joint or muscle disease.
Q. I have seen a child who I believe to have growing pains. How can I reassure myself that this is the likely diagnosis rather than something more sinister?
A. When growing pains are suspected, it is important to consider the ‘rules’ of growing pains, and where the presentation does not fit with this pattern, this raises the concern that there may be other pathology to account for the symptoms.
Growing pain ‘rules’ include:
- occurs between the ages of 3–12 years
- symmetrical pain in lower limbs without relation to joints
- should never cause a limp
- pain should not be present in morning after waking
- systemically well and have a normal physical examination with normal motor milestones.
Where there are any concerning features, options for clarifying this uncertainty include investigations and/or referral to paediatric services.
Q. Up to what age is it considered normal to have flat feet in children?
A. Flat feet are generally considered a normal variant up to age 5 or 6, but there are specific features that may suggest further assessment is needed – an overview can be found on the PMM website.
Concerning features of flat feet include: lack of arch whilst standing on tip toes, an asymmetrical flat foot, stiff or swollen joints of the feet, persistent pain or limp, evidence of abnormal neurology.
Painful flat feet in an older child should raise suspicion of tarsal coalition or of an inflammatory arthritis.
In addition, there are several other normal variants which are commonly encountered in general practice, again with specific features that may warrant further consideration.
Q. What are the red flags for children presenting with musculoskeletal problems?
A. The red flags are all features of a presentation that may suggest serious illness such as malignancy, infection or non-accidental injury.
As covered in the Musculoskeletal History section, careful assessment of a child with a limp with or without a fever can be suggestive of malignancy. Similar red-flag features include weight loss, lethargy, bruising, lymphadenopathy, pallor and night pain.
An unwell-appearing child or young person with an acutely swollen, tender joint in the presence of fever should prompt urgent assessment in secondary care to exclude a serious infection such as septic arthritis or osteomyelitis.
Inconsistencies in the history with examination findings requires careful assessment for consideration of a non-accidental injury. Risk factors for non-accidental injuries include domestic violence, parental mental health issues and/or alcohol/drug abuse within the household.
Delay in walking
Q. When would we expect children to start walking? At what point should referral be considered?
A. Most children would start walking with assistance by 12–14 months. Referral would generally be considered if the child has not started walking by 18 months, if there are concerns around meeting their other motor milestones, or if other features of MSK disease are present.
Investigating suspected MSK problems
Q. If I am planning on referring a patient to paediatric rheumatology to investigate for an inflammatory condition, are there any investigations I should arrange in the meantime?
A. Where investigations can be easily performed in primary care, certain blood and urine tests can be helpful when referral is made. Information about these can be found on the PMM website.
Normal blood tests do not rule out pathology, and referral should still be made despite normal test results if clinical concerns remain. For children, invasive investigations can be traumatic and technically difficult, and so, whilst helpful, referrals can still be made without initial investigations where it is felt this would not be appropriate.
Arthritis in children with a learning disability
Q. What are the challenges to correctly diagnosing arthritis in children with a learning disability?
A. There is a misconception that children who have learning disabilities have a higher pain tolerance than their peers – this is not the case for most children and some may have increased sensitivity to pain.
For children with a learning disability and impaired communication ability, undiagnosed arthritis can result in behaviours that hinder diagnosis as a full clinical assessment can be challenging. As for all children with arthritis, it is important to identify and treat the condition early, not only to improve clinical outcomes, but also quality of life.
Children with Down’s syndrome are at increased risk of developing inflammatory arthritis. Despite this higher prevalence, Down-syndrome-associated arthritis (DA) is often missed leading to a delay in diagnosis and worse clinical outcomes. A high index of suspicion is needed. Every child with DA is unique and the signs and symptoms are variable. Typical signs and symptoms observed in JIA may be absent or very subtle.
Gradual functional loss over time in a child with communication difficulties may go undetected. Children may be uncooperative and combined with poor verbal skills, this makes the history taking and MSK examination challenging. Delay in motor development is often falsely attributed to learning disability, and changes in activities of daily living attributed to behavioural problems rather than arthritis.
Some children with learning difficulties or autistic spectrum disorder have minimal language skills and difficulty using non-verbal communication, such as gestures, eye contact or facial expressions. This can make it hard for them to say when they are in pain, or to explain the location, nature and severity of that pain. Often parents or carers will learn cues to identify when their child is not well, but sometimes they too may struggle to localise the source of the problem.
Hypermobility is a feature of Down’s syndrome and may make MSK examination challenging, as it may be difficult to appreciate loss of range of movement secondary to arthritis. Asymmetrical loss of joint range is a helpful clue of arthritis.