| Category | Recommendations |
| General | - Complete age-appropriate physical and neurologic examination at diagnosis and annually.
|
| Infancy | - Three monthly assessments of growth (including head circumference) and feeding.
- Refer for swallowing and dietetic assessment if feeding difficulty present.
- Gastroesophageal reflux may be a contributor.
- Pediatric surgery/urology referral if cryptorchidism present.
- Seek neurosurgical opinion if craniosynostosis or hydrocephalus is suspected.
|
| Genetics | - Refer to genetics at diagnosis for confirmation of clinical diagnosis and possible genetic testing.
- Refer at adolescence and in adult life for discussion of reproductive options.
|
| At-risk pregnancy | - Prenatal diagnosis available.
- Additional scans in at-risk pregnancy of unknown status to monitor for hydrops, pleural effusions, congenital heart disease, and polyhydramnios.
|
| Growth and endocrine | - Regular assessment.
- Use NS growth charts.
- Refer for evaluation by pediatric endocrinologist (including possible investigation of growth hormone axis) if evidence of poor growth velocity.
- Screen adults and older children for thyroid dysfunction by thyroid function tests and antithyroid antibodies every 3 to 5 years.
|
| Development | - Refer for neurodevelopmental assessment in second 6 months of life.
- Neuropsychological assessment at any point of concern; primary and high school entry as a minimum.
- Comprehensive assessment in presence of anxiety or if cognitive impairments suspected at any age.
|
| Hearing | - At diagnosis, then annually until high school age.
- Reassess if clinical concerns.
|
| Vision | - At diagnosis, then annually.
|
| Cardiology | - Cardiac evaluation (including echocardiography) at diagnosis; if normal, cardiac echocardiography annually until age 3 years, then every 5 years lifelong starting at age 5 years in view of possible development of later-onset cardiomyopathy, aortic valve disease, aortic dilatation.
|
| Hematology | - With specific pathogenic variants, assess for splenomegaly and check a complete blood count every 3 months until age 5 years. Alternatively, caregivers can be educated about the presenting features of JMML, and prompt hematologic investigations can be performed in the event any concerns are raised.
- Coagulation studies prior to surgery or at ≥5 years of age.
|
| Kidney | |
| Orthopedic | - Assess for talipes equinovarus (clubfoot).
- Monitor spine for scoliosis.
- Refer to physiotherapy for hypermobility, poor motor planning.
|
| Dental | - At least annual assessment.
- Remember giant cell tumors of jaw; if present, refer for expert management.
|
| Skin | - Manage using emollients, keratolytic agents as necessary.
|
| Lymphatics | - Assess for presence of lymphedema at each examination; refer to specialist clinic if present.
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| Neurology | - Refer for specialist neurology opinion and MRI in presence of increasing head circumference or headache or other neurologic symptoms since Chiari malformation, hydrocephalus, and moyamoya disease are possible.
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