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Other Health Issues in Lowe Syndrome

Gastroesophageal reflux, most common in infancy, may be seen at any age. Sometimes, the pain that arises from experiencing gastroesophageal reflux can be associated with behaviours that challenge. It is important to ensure that any of these challenging behaviours that may occur are not underpinned by pain.

A high arched palate can be a physical characteristic associated with Lowe syndrome. This can cause a narrowed airway, and so difficulties breathing, as well as disordered sleep breathing (such as sleep apnoea).

Dental malformations with decreased dentin formation may also be related to a primary dental abnormality in Lowe syndrome. Dental examinations should be performed twice a year by a paediatric dentist experienced in treating children with developmental delay.

Superficial cysts may occur in the mouth and on the skin. Those on the lower back and buttocks can become painful and, occasionally, infected. Cysts have also been found in imaging studies of the kidneys and brain.

In affected teenagers and adults, joint swelling, arthritis, tenosynovitis (inflammation surrounding the tendons), and subcutaneous benign fibromas (non-cancerous growths under the skin), often on the hands and feet and most especially in areas of repeated trauma, are noted frequently.

Inflammation of the band of tissue that extends along the sole of the foot (plantar fasciitis) may occur, which can cause pain when walking. This can be treated in a variety of ways including: stretching exercises, heat/cold therapy, wearing shoes with good support and anti-inflammatories, amongst other methods.

A platelet defect may affect children with Lowe syndrome although research to confirm or disprove this is underway. This means that there may be problems in the cessation of bleeding. The research into the prevalence of this in Lowe syndrome is still ongoing; but if it is common, this is an important issue to take into consideration when considering surgery. You can read more about this in the Lowe Syndrome Trust handbook

50% of individuals with Lowe syndrome experience constipation regularly, due to the reduced muscle tone in the abdomen. Treatments for this include remaining hydrated and having a high-fibre diet; if this is not working, seek help from your doctor.

There is some evidence that people with intellectual disability might have a peripheral sensory neuropathy. This disorder can have two important effects that might be relevant to self-injury. First, pain may not be experienced in the ‘normal’ way; painful stimuli may not be experienced as painful. Secondly, people may experience unusual sensations in their hands and arms. These sensations are described by some people as pins and needles (dysaesthesia) or a mild burning sensation. It has been suggested that peripheral sensory neuropathy may be associated with behaviours that challenge underpinned by pain. 


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