Assessment of gait disorders in children

Used primarily to rule out other disorders, such as Legg-Calvé-Perthes' disease, fractures, and tumours

Used primarily to rule out septic arthritis

X-rays of both tibia to include full long bones and knee and ankle joints (anteroposterior and lateral and oblique views).

X-rays may be normal initially; if toddler's fracture is suspected then immobilisation in a long leg cast and repeat x-rays at 10 to 14 days usually confirms a healing fracture.

At early stages, x-ray may be normal.[Figure caption and citation for the preceding image starts]: Legg-Calvé-Perthes' disease: right hip on x-rayFrom Dr Foster's personal collection; used with permission [Citation ends].

Sensitive to early changes of the disease when x-ray is normal.[Figure caption and citation for the preceding image starts]: Legg-Calvé-Perthes' disease MRIFrom Dr Foster's personal collection; used with permission [Citation ends].

Bi-planar x-rays of all suspicious areas. Limbs should include long bone above and below joints.

Certain fractures (e.g., metaphyseal 'bucket handle' fractures, posterior rib) in the toddler, and injuries at different stages of healing are very suspicious of non-accidental injury.

Skeletal survey (indicated in all children aged <2 years and infants <1 year with suspected non-accidental injury). Usually needs review by expert radiologist to distinguish changes from those of normal growth and normal variants.

Important to exclude bleeding disorder (haemophilia) before embarking on child protection management, although haemophilia and non-accidental injury may co-exist.

Important to exclude other causes of easy bruising before embarking on child protection management, although non-accidental injury may co-exist with other causes.

Imaging both sides is recommended to exclude ossification changes.

X-rays are not always indicated but should be considered with non-resolving symptoms or atypical clinical picture.

If JIA is suspected, prompt referral to a paediatric rheumatologist is recommended and should not be delayed while awaiting results of investigations.[40]Royal Australian College of General Practitioners. Clinical guideline for the diagnosis and management of juvenile idiopathic arthritis. August 2009 [internet publication]. https://www.racgp.org.au/FSDEDEV/media/documents/Clinical%20Resources/Guidelines/Joint%20replacement/Clinical-guideline-for-the-diagnosis-and-management-of-juvenile-idiopathic-arthritis.pdf [41]Davies K, Cleary G, Foster H, et al; British Society of Paediatric and Adolescent Rheumatology. BSPAR standards of care for children and young people with juvenile idiopathic arthritis. Rheumatology (Oxford). 2010 Jul;49(7):1406-8. http://www.ncbi.nlm.nih.gov/pubmed/20173199?tool=bestpractice.com

ANA and RF are not diagnostic of JIA, but in the presence of inflammatory arthritis, ANA indicates high risk of uveitis (especially in females with early-onset disease). The presence of RF is associated with worse prognosis of arthritis.

The presence of positive double-stranded DNA and extractable nuclear antigen (ENA) antibodies is rare in children but suggests multi-system disease such as systemic lupus erythematosus (SLE).

Often required to exclude malignancy and infection especially in polyarticular presentation and unwell child.

Results are usually normal in oligoarticular JIA.

May be normal in early JIA.

Eye screening is mandatory in all cases of suspected JIA as uveitis may be painless and asymptomatic.[Figure caption and citation for the preceding image starts]: Chronic anterior uveitis in juvenile idiopathic arthritis: irregular pupilFrom Dr Foster's personal collection; used with permission [Citation ends].[Figure caption and citation for the preceding image starts]: Chronic anterior uveitis in juvenile idiopathic arthritis: cataractFrom Dr Foster's personal collection; used with permission [Citation ends].

Girls, pre-school children, children 2 years from onset of arthritis, and antinuclear antibodies (ANA) positive children are at higher risk of oligoarticular JIA. Subsequent frequency of screening eye examinations is determined by the presence or absence of these risk factors and the findings at initial assessment.

Older children with oligoarticular JIA and those with enthesitis-related arthritis may have a history of acute anterior uveitis with a painful red eye[Figure caption and citation for the preceding image starts]: Acute anterior uveitis in HLA-B27-associated juvenile idiopathic arthritis, showing red injected eye and hypopyon (inflammatory exudates in anterior chamber)From Dr Foster's personal collection; used with permission [Citation ends]. and are invariably HLA-B27 positive.

Associated with enthesitis-related arthritis, long-term risk of ankylosing spondylitis in adolescence/young adulthood, and risk of acute uveitis with a painful red eye.[42]Cabral D, Oen K, Petty RE. SEA syndrome: a longterm followup of children with a syndrome of seronegative enthesopathy and arthropathy. J Rheumatol. 1992 Aug;19(8):1282-5. http://www.ncbi.nlm.nih.gov/pubmed/1404167?tool=bestpractice.com

Not diagnostic but suggestive of systemic-onset JIA.

To exclude leukaemia/malignancy. May be indicated pending the clinical scenario (but not mandatory).

To exclude bleeding disorder (haemophilia). Indicated in the toddler and pre-school child with haemarthrosis. In the older child, consider alternative causes of haemarthrosis (trauma-related, pigmented villonodular synovitis); MRI is usually indicated.

Further investigations may be required if the diagnosis is equivocal.

Site of lesion variable and determines the neurological presentation.[45]Korzeniewski SJ, Birbeck G, DeLano MC, et al. A systematic review of neuroimaging for cerebral palsy. J Child Neurol. 2008 Feb;23(2):216-27. http://www.ncbi.nlm.nih.gov/pubmed/18263759?tool=bestpractice.com

For rubella, toxoplasmosis, CMV and herpes simplex. Results may be negative.

May be indicated if the history and/or examination suggest a genetic syndrome (e.g., dysmorphic features).

Inherited myopathies (such as Duchenne's muscular dystrophy) are suggested by raised muscle enzymes, but test is not diagnostic. Hypothyroidism and osteomalacia (low/normal calcium, low 1,25-OH vitamin D and low phosphate) may present with developmental delay.

Spina bifida is often diagnosed antenatally. For infants with sacral motor levels (likely to be ambulatory) aged >3 months, hip x-rays are preferred over ultrasound if hip examination is abnormal: asymmetrical hip abduction or positive Barlow's or Ortolani's sign (eliciting a clunk from the hip as it relocates).

High discriminatory power when combined with history.[49]Andersson RE. Meta-analysis of the clinical and laboratory diagnosis of acute appendicitis. Br J Surg. 2004;91:28-37.

Can be bi-lateral in one third of cases.[Figure caption and citation for the preceding image starts]: Slipped capital femoral epiphysisFrom Dr Foster's personal collection; used with permission [Citation ends].

Normal pelvic radiograph at four months can reliably exclude developmental hip dysplasia in children with risk factors.[37]American College of Radiology. ACR appropriateness criteria: developmental dysplasia of the hip - child. J Am Coll Radiol. 2019 May;16(5S):S94-103. https://acsearch.acr.org/docs/69437/Narrative http://www.ncbi.nlm.nih.gov/pubmed/31054762?tool=bestpractice.com [38]Garvey M, Donoghue VB, Gorman WA, et al. Radiographic screening at four months of infants at risk for congenital hip dislocation. J Bone Joint Surg Br. 1992 Sep;74(5):704-7. http://www.ncbi.nlm.nih.gov/pubmed/1527117?tool=bestpractice.com

The American Academy of Pediatrics and American Academy of Orthopaedic Surgeons do not advocate the use of ultrasound for the screening of developmental hip dysplasia after 4 to 5 months.[33]Shaw BA, Segal LS, SECTION ON ORTHOPAEDICS. Evaluation and referral for developmental dysplasia of the hip in infants. Pediatrics. 2016 Dec;138(6). https://publications.aap.org/pediatrics/article/138/6/e20163107/52541/Evaluation-and-Referral-for-Developmental http://www.ncbi.nlm.nih.gov/pubmed/27940740?tool=bestpractice.com [37]American College of Radiology. ACR appropriateness criteria: developmental dysplasia of the hip - child. J Am Coll Radiol. 2019 May;16(5S):S94-103. https://acsearch.acr.org/docs/69437/Narrative http://www.ncbi.nlm.nih.gov/pubmed/31054762?tool=bestpractice.com [39]Mulpuri K, Song KM, Goldberg MJ, et al. Detection and nonoperative management of pediatric developmental dysplasia of the hip in infants up to six months of age. J Am Acad Orthop Surg. 2015 Mar;23(3):202-5. https://journals.lww.com/jaaos/fulltext/2015/03000/detection_and_nonoperative_management_of_pediatric.8.aspx http://www.ncbi.nlm.nih.gov/pubmed/25656273?tool=bestpractice.com ​​​

Distinguishes from congenital vertical talus or osteochondrosis of the tarsal navicular bone (Kohler's disease), which usually presents in pre-school/early school age.

Helpful if x-ray is normal or inconclusive.

Imaging both sides is recommended to exclude ossification changes.

X-rays are not always indicated but should be considered with non-resolving symptoms or atypical clinical picture.

Anteroposterior, lateral, and oblique views of the lumbar spine are recommended.

Indicated when x-ray is negative or inconclusive.

Indicated if MRI is equivocal.

Creatinine phosphokinase levels may be normal but other enzymes may be abnormal.

Documents the extent and focal nature of inflammatory muscle disease (which may be patchy). Helps to distinguish from inherited myopathies and to choose optimum site for muscle biopsy.

May be indicated to confirm myopathy and distinguish from inherited myopathies or other neuromuscular diseases.

Presence of chest wall weakness increases risk of aspiration.

To assess risk of aspiration pneumonia.

To confirm myopathy and distinguish from inherited myopathies. Rarely requested in children as uncomfortable test and muscle biopsy provides more useful information.

ANA is positive in virtually all patients with SLE.[43]von Muhlen CA, Tan EM. Autoantibodies in the diagnosis of systemic rheumatic diseases. Semin Arthritis Rheum. 1995 Apr;24(5):323-58. http://www.ncbi.nlm.nih.gov/pubmed/7604300?tool=bestpractice.com Clinically relevant ANAs are IgG antibodies.

Currently the most sensitive test for confirming the diagnosis of SLE when accompanied by typical clinical findings. However, a positive ANA in itself is not diagnostic as it may be positive in other connective tissue diseases, or present in other chronic disease or transiently positive post viral illness.

dsDNA is diagnostic and rarely is negative.

Ro and La antibodies may be absent in SLE but if present indicate overlap with Sjogren's syndrome.

Leukopenia is usually caused by lymphopenia rather than neutropenia.

Drugs and infection should be excluded as a cause of the cytopenias.

To be considered in anyone suspected of having SLE.

Identifies those patients with SLE who have renal manifestations but can be normal even with significant renal involvement.

ESR and CRP are non-specific markers and may be elevated due to an acute phase response from any cause. Patients with SLE have systemic inflammation.

ESR may be elevated due to high levels of immunoglobulins.

CRP is usually normal in SLE but an elevated ESR and CRP should prompt a search for infection.

Correlate with activity of SLE but can be normal.

Indicates renal involvement. It should be performed if there is suspicion of SLE even if urea and creatinine levels are normal.

All patients presenting with cardiopulmonary symptoms should have a chest x-ray performed.

All patients presenting with cardiopulmonary symptoms should have an ECG performed.

Urgent and mandatory if sepsis is suspected.[Figure caption and citation for the preceding image starts]: Erythema, redness and swelling in septic arthritis of the shoulderFrom Dr Foster's personal collection; used with permission [Citation ends].

Request gram stain and stained for acid-fast bacilli (mycobacteria). Consider atypical organisms or mycobacterial infection in high-risk groups (risk factors include immunocompromise, social deprivation, ethnic origin, family contact, and history).

Staphylococcus aureus (50%), Streptococcus (10%), Salmonella (sickle cell disease), Chlamydia and gonococcal infection in sexually active.

Reactive arthritis indicates recent infection, typically GI tract in children or sexually acquired in older children and adolescents.

Lyme serology is indicated if child has visited endemic infection area (parts of Europe and North America).

Hb electrophoresis if suspect sickle cell disease.

The level of CRP is used to monitor response to antibiotics.

May be normal in early disease.

Indicated if sepsis is considered, in presence of non-localised pain and if x-rays are normal.

Urgent and mandatory if sepsis is suspected.

Request gram stain and stained for acid-fast bacilli (mycobacteria). Consider atypical organisms or mycobacterial infection in high-risk groups (risk factors include immunocompromise, social deprivation, ethnic origin, family contact and history).

Staphylococcus aureus (50%), Streptococcus (10%), Chlamydia and gonococcal infection in sexually active.

The level of CRP is used to monitor response to antibiotics.

May be normal in early disease.

Indicated if sepsis is considered, in presence of non-localised pain and normal x-rays.

Findings vary depending on the type of CMT disease.

In demyelinating types, such as CMT type 1, diffuse and uniform slowing of nerve conduction velocities is observed.

A causative gene mutation is identified in approximately 80% of cases of demyelinating CMT.[46]Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb;8(2):86-92. https://www.gimjournal.org/article/S1098-3600(21)03415-8/fulltext http://www.ncbi.nlm.nih.gov/pubmed/16481890?tool=bestpractice.com ​ Patients with an axonal pattern on nerve conduction studies, with or without family history, should be tested for CMT2A, the most common form of axonal CMT.[47]Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild charcot-marie-tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006 Aug;129(pt 8):2103-18. https://academic.oup.com/brain/article/129/8/2103/335196 http://www.ncbi.nlm.nih.gov/pubmed/16835246?tool=bestpractice.com ​ Only 30% to 40% of cases of axonal CMT will have an identifiable mutation.

Elevated levels of creatinine phosphokinase in females may indicate carrier status.

Confirmation of inherited myopathies and carrier status in female relatives.

To distinguish from inflammatory myopathies.

May be indicated and helpful in differential diagnosis and to distinguish inherited myopathies from inflammatory causes.

To exclude hypothyroidism, hyperthyroidism. May be indicated depending on clinical assessment.

To exclude post-viral myopathies. May be indicated depending on clinical assessment.

To exclude osteomalacia, renal tubular acidosis. Renal tubular acidosis is suggested by low serum bicarbonate and high serum chloride. May be indicated depending on clinical assessment.

To exclude malignancy and other causes of bleeding tendency. Bone marrow biopsy may be indicated in some cases.

Level of factor VIII or IX used to establish diagnosis and severity. Bleeding phenotype correlates directly with factor VIII or IX levels.

To confirm carrier status in family members. Haemophilia is X-linked recessive inherited, therefore females are likely to be carriers and males are clinically affected.

Useful although not diagnostic.

In older children and adults, cellulose acetate electrophoresis at an alkaline pH is most commonly used to determine haemoglobin sub-type.

positive cultures suggest septic arthritis or osteomyelitis. Painful bone episodes in sickle cell disease are clinically indistinguishable from those experienced in osteomyelitis.

Anteroposterior and lateral views are required to look for signs of infection or lymph node involvement

May be normal and bone marrow biopsy is usually indicated.

Anteroposterior and lateral views required. Chest x-ray used to exclude metastases.

May be normal.

May be normal.

Hydroxymethoxymandelic acid (HMMA) and vanillylmandelic acid (VMA) are adrenaline (epinephrine) and noradrenaline (norepinephrine) metabolites secreted in excess in neuroblastoma.

Anteroposterior and lateral views required. X-ray may be normal.

Most common sites are proximal femur, spine, and proximal tibia.

Indicated to exclude other differential diagnoses such as malignancy or sepsis.

Indicated to exclude other differential diagnoses such as malignancy or sepsis.

Bone scan indicated if x-ray normal.

MRI often chosen initially (no radiation risk) and may show a soft-tissue mass associated with an early lesion.

However, CT shows the bone changes better and is valuable prior to surgical removal of the lesion.

Anteroposterior and lateral views required. Bone x-ray may be normal. Changes may mimic those found in sepsis/osteomyelitis.

Metastases occur early.

May be normal and bone marrow biopsy is usually indicated.

May be normal.

Bone scan indicated if x-ray normal.

Both may be important to stage disease and plan subsequent management. MRI more likely to demonstrate lung metastases.

Anteroposterior and lateral views required. Bone x-ray may be normal. Changes may mimic those found in sepsis/osteomyelitis.

Metastases occur early.

May be normal and bone marrow biopsy is usually indicated.

May be normal.

Bone scan indicated if x-ray normal.

Both may be important to stage disease and plan subsequent management. MRI more likely to demonstrate lung metastases.

Alkaline phosphatase levels vary with age in growing skeleton.

Looser zones (sharply defined transverse stress fractures in shafts of long bones) are helpful to distinguish changes from non-accidental injuries.[48]Brill PW, Winchester P. Differential diagnosis of child abuse. In: Kleinman PK (ed). Diagnostic imaging of child abuse. Baltimore, MA: Williams and Wilkins; 1987:221-241.

May be negative.

In the presence of suggestive clinical features, specialist referral to a metabolic unit is recommended before requesting specialist blood enzyme assays that may be specific for individual conditions.

May be negative.

In the presence of suggestive clinical features, specialist referral to a metabolic unit is recommended before requesting specialist blood enzyme assays that may be specific for individual conditions.

Some mutations are polymorphisms and may not be associated with disease. Not all mutations have been analysed and some disorders will only be diagnosed in consultant laboratories; it is essential that consultant centres are consulted in the design and implementation of the diagnostic strategy for these rare diseases.

May be normal.

To exclude obstruction to blood flow.

Indicated to exclude other pathologies.

Indicated to exclude other pathologies.

Indicated to exclude other pathologies.