Table 5 Recommended assessments

Baseline history

Establish natural history, systemic involvement, current level of disease severity and estimate rate of progression

At diagnosis

All

Interval history

Establish rate of disease progression; monitor for compliance with and side effects from therapy

3–12 monthly/each visit

As needed

Physical examination

Document growth parameters, assess for neurological features and organomegaly, assess for fatigue, abdominal pain, and/or bleeding tendency at least annually

At diagnosis then 6–12 monthly/each visit

As needed

Nutrition

Evaluation of nutritional status and safety of oral intake

At diagnosis then at each visit

As needed

Pulmonary assessment

Assess recurrent chest infections

At diagnosis then at each visit

All

Assess for shortness of breath

Pulmonary function testing including assessment of diffusing capacity in persons old enough to cooperate

At diagnosis then annually

As needed

Chest radiograph and/ or high resolution chest CT to assess extent of interstitial lung disease

At diagnosis regardless of age then every 2–4 years

All

Musculoskeletal assessment

Assess for fractures and/or extremity pain

At diagnosis then each visit

All

Neurologic assessment

Comprehensive neurologic evaluation, assess neurologic function and frequency of headaches

At diagnosis then annually

As needed

Ophthalmology evaluation

Presence of cherry-red spots at baseline and document

At diagnosis

All

Cardiac assessment (adult only)

EKG, echocardiogram, coronary angiogram as indicated

At diagnosis

As needed

Every 3–5 years

Blood investigations

Serum chemistries including liver transaminases (ALT, AST), albumin, and clotting factors to evaluate for progression of hepatic dysfunction

At diagnosis then at least annually

As needed

Complete blood count to evaluate for thrombocytopenia, leukopenia, anemia, and increased bleeding

Measurement of lipid profile

Imaging studies

Radiologic measurements of liver and spleen size as needed

At diagnosis then as needed

As needed

Liver elastography or FibroScan to evaluate for hepatic fibrosis and cirrhosis

Swallowing assessment

Swallowing assessment in all patients at risk; document presence of dysphagia and aspiration and response to therapy

At diagnosis and then 6 monthly in children; in adults, frequency could be reduced to every

As needed

12 months if asymptomatic and disease is stable

Developmental or cognitive assessment

Developmental assessment, monitor developmental progress and educational needs (evaluation for early intervention/special education)

At diagnosis then at each visit

As needed

Document baseline degree of cognitive impairment including motor, adaptive, cognitive and speech/language and monitor response to therapy

At diagnosis; 6 monthly in children; 12 monthly in adults

As needed

Neuropsychiatric evaluation

Document psychiatric manifestations and response to therapy

At diagnosis then 6–12 monthly as indicated

As needed

Family support and resources

Assess need for family support and resources at each visit

At diagnosis then each visit

As needed

Assess need for community or online resources such as Parent to parent; social work involvement for parental support

Home nursing referral

Assess for any change in social, domestic, or school or work related activities