Fatigue

If your child’s fatigue becomes worse or starts affecting daily activities more than usual, speak with your child’s doctor.

They may consider whether there are treatable contributors, such as:

• sleep issues
• nutrition
• anaemia
• endocrine concerns, such as thyroid or adrenal issues
• infection
• medication effects
• heart or lung issues

Read more about fatigue and mito

Developmental progress

Your child’s developmental progress should be discussed at follow-up appointments.

Your child’s doctor may recommend further developmental or neuropsychological assessment if needed.

This can help your child’s doctors understand how your child is going and support a personalised care plan.

Endocrine

Your child’s doctor may suggest blood tests for diabetes and other conditions.

These may include tests for:

• blood sugar
• thyroid function
• minerals
• vitamin D
• kidney function
• blood counts

These tests may be more relevant for children with types of mito known to increase the risk of these conditions.

Your child’s doctor may also suggest a bone mineral density test.

This may be important if your child:

• has trouble eating enough
• has had falls
• has kidney problems linked with mito

If puberty is delayed, your child’s doctor may suggest seeing a paediatric endocrinologist.

Your child’s doctor can explain which tests are relevant for your child.

Read more about diabetes and mito

Kidneys

If mito is affecting your child’s kidneys, their doctor may refer your child to a kidney specialist.

A kidney specialist is also called a nephrologist.

Your child may have urine or blood tests to check how their kidneys are working.

Movement

Your child’s doctors may check for muscle, spine or joint problems.

These checks may be more important if your child has changes in:

• muscle tone
• muscle strength
• movement
• balance
• how their brain works

Your child’s developmental progress should be discussed at follow-up appointments.

Your child’s doctor may recommend further developmental or neuropsychological assessment if needed.

This can help your child’s doctors understand how your child is going and support a personalised care plan.

Read more about exercise and mito

Liver

Your child’s doctor may check how well your child’s liver is working.

Digestive system

Speak with your child’s doctor or dietitian if you have concerns about:

• growth
• weight
• appetite
• swallowing
• feeding
• nausea
• constipation
• other digestive symptoms

Your child’s weight and growth may be monitored.

Your child may also have blood tests for:

• vitamin B12
• trace elements
• iron
• folate

Your child’s doctor or dietitian may also monitor nutrition and growth over time. This may include height, weight, body mass index, growth speed, and blood tests for iron, vitamin D, zinc or other nutrients.

If puberty is delayed, your child’s doctor may suggest seeing a paediatric endocrinologist. Delayed puberty can affect health in different ways, including bone health.

If your child is at risk of malnutrition, they may need more regular monitoring.

Mito can affect the bowels.

Severe abdominal pain can be serious. Your child may need urgent medical care, especially if the pain is new, severe or does not settle.

If your child has nausea, tummy discomfort or constipation, you can speak with your child’s doctor.

If your child has ongoing diarrhoea that has no clear cause, their doctor may arrange tests to check the pancreas.

Respiratory

Speak with your child’s doctor if your child has symptoms such as:

• shortness of breath
• poor sleep
• morning headaches
• daytime sleepiness
• reduced exercise tolerance

Your child’s doctor may recommend respiratory assessment if needed.

• Respiratory issues can include:
• sleep apnoea
• swallowing problems
• reflux
• breathing food or fluid into the lungs, which is called aspiration

It is also important that other breathing conditions, such as asthma, are managed well.

Hearing

Regular hearing checks may be recommended, as mito can affect hearing.

Speak with your child’s doctor about how often hearing checks are needed.

Changes to hearing can sometimes happen after an acute episode, such as:

• a serious illness
• a stroke-like episode
• an intensive care admission

Heart

Your child’s doctor may recommend a yearly ECG or other heart checks, depending on your child’s type of mito, symptoms and medical history.

An ECG is a test that checks the electrical activity of the heart.

It can help your child’s doctor check how their heart is working.

If your child’s doctor suspects mito is affecting your child’s heart, they may refer your child to a paediatric cardiologist. This specialist can help assess your child’s heart and support safe activity planning.

Vision

Regular vision checks may be recommended, as mito can affect eyesight.

Speak with your child’s doctor about how often eye checks are needed.

If you notice changes in your child’s vision, you can speak with your child’s doctor or eye specialist.

Children with MLASA or Pearson syndrome

Children with MLASA or Pearson syndrome may have a higher risk of anaemia or bone marrow suppression.

Your child’s doctor may recommend regular blood tests for these conditions.

*MLASA stands for myopathy, lactic acidosis and sideroblastic anaemia.