Below we discuss the CASK gene medical problems that children may suffer from. Few have all of these conditions, and some may have very few.
Chewing and swallowing both require fine motor movements and complex coordination. As a result, some children struggle to feed efficiently or easily and/or may aspirate on liquids (this is when liquid goes down the trachea instead of the oesophagus). Aspiration is serious since it can cause repeat lung infections requiring antibiotics and/or hospitalisations. A minority of children have feeding tubes to ensure they stay well hydrated and get adequate nourishment
Approximately 40% of children with CASK develop epilepsy. It is important to learn the signs of seizures, particularly infantile spasms, which can exhibit subtly and, in babies, mask as reflux.
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A number of children require hearing aids. The most common form of hearing loss is sensorineural hearing loss. It is when the inner ear nerves and hair cells are damaged. It therefore affects the pathway from the inner ear to the brain. It doesn’t appear to be progressive in CASK children.
It is important to factor in the problems with doing hearing tests on children who are non-verbal and cannot express themselves.