Recommendations for Health Surveillance and targeted therapies

Currently, there is no known cure for a CLCN4 -related disorder. However, early interventions and education programs can maximise learning and social development, and medications can help manage the symptoms. Aggressive treatment of seizure disorder is particularly important to maximise developmental outcome.

We recommend regular health surveillance including:

1. Close developmental surveillance by a paediatrician with appropriate referral for early intervention and ongoing support at and after school.

2. Referral to a neurologist for examination and/or neuroimaging if concerns new onset or progressive neurological symptoms including seizures or movement disorder.

3. Prompt referral to a mental health specialist if concerns regarding depression or anxiety symptoms, including in female carriers of this condition.

4. Referral to an endocrinologist if concerns with short stature and/ or growth failure.

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