Annual Review

History from person affected and their family

• General well-being
• Psychology – adjustment to condition
• MobilityAlström
• Eyesight and visual aids – Braille, IT
• Hearing and appropriate hearing aids
• Growth and development
• Diet and exercise assessment

Examination

• Observe mobility
• Assess spine
• Weight, height, blood pressure
• Acanthosis nigricans (darkening and increase in thickness of cells in the skin)
• Condition of feet
• Listen to heart and lungs
• Palpate abdomen

Imaging:

• Bladder scan post micturition (after the passage of urine) if urinary symptoms
• ECG
• Echocardiogram
• Cardiac magnetic resonance imaging annually from adolescence
• Respiratory function
• Liver scan

Ask if there is any:

• Shortness of breath
• Tiredness
• Problems with passing water
• Heartburn
• What treatments are being taken?

Investigation

• Blood
• Urea, creatinine and electrolytes
• Full blood count
• Liver function tests
• Haemoglobin A1c
• Post prandial C-peptide and blood glucose
• Serum triglycerides and cholesterol
• Thyroid function
• Oestrogen or testosterone, FSH and LH
• Brain natriuretic peptide

Respiratory Function

From seven years and older standard respiratory function tests:

• Peak Flow
• Forced Expiratory Volume in 1 second (FEV)
• Forced Vital Capacity (FVC)
• FEV1/FVC ratio
• Digital oximetry at rest and after a five-minute walk