ROHHAD Symptoms

Rapid Onset Obesity

This is most commonly the first symptom and it will happen over a 6-12 month period were the child will gain between 20 and 30 pounds in weight. An issue often compounded by decreased energy levels.

Hypothalamic and Endocrine abnormalities

These can develop at any point but normally after the rapid onset obesity. Includes an inability to maintain normal water/sodium balance in the body, low thyroid hormone, low growth hormone (resulting in below average growth rate), early or late puberty, high prolactin levels and other abnormalities. Children with ROHHAD may not have all of these endocrine abnormalities however most of them experience at least some of them.

Central Alveolar Hypoventilation (A breathing abnormality).

Despite having healthy lungs the breathing function becomes severely impaired. All children with ROHHAD will develop this key feature and it will be most apparent during sleep hours. Ventilation is required to treat this life threatening part of the condition. In more severe cases of ROHHAD the central hypoventilation is apparent in the children whilst awake as well as asleep. This part of the means that the children are at risk of cardio-respiratory arrest.

Obstructive sleep apnoea

This is often treated with ventilation but may also require surgery to remove tonsils if they are the considered source of the obstruction. It is often the obesity in children affected by ROHHAD that is the obstruction and causes the difficulty breathing.

Autonomic Nervous System Dysregulation

This occurs were the autonomic regulation of different organ systems within the body begin to malfunction. An Example of which is the children can develop heart rate changes and either suffer with a slow heart rate or a fast heart rate that may be treated with medications and sometimes a pace maker. Other autonomic systems within the body also malfunction.

Intestinal abnormalities

Such as motility issues resulting in chronic constipation and or diarrhoea. The Children are often treated with medication and in more severe cases of gastrointestinal dysmotility surgery is required.

Altered sensations of pain

Some children feel little or no pain when it would be expected they should. High tolerance of pain is often seen. At the same time they can also feel excruciating pain when it is not expected. Sometimes a ROHHAD reaction to pain can be a rapid change in body temperature.

Eye abnormalities

Such as lazy eye (strabismus) and astigmatism can also develop.

Body thermostat dysregulation

Dangerously high or low body temperatures, icy cold hands and feet, profuse sweating and many other symptoms reflecting dysregulation of autonomic functions can and will occur in children with ROHHAD.

Difficulty with mobility

Restricted movement due to the size of the body. Some of those affected are prevented from exercising due to their dangerously high risk of cardio-respiratory arrest.

Seizures

Not all children with ROHHAD experience seizures, but they can be a symptom that is present. Sometimes a result of endocrine abnormalities.

Behavioural abnormalities

Some of the children also have a diagnosis of autism and there are some behavioural, mood and developmental disorders associated with ROHHAD.

Increased Hunger

Hyperphagia is is an abnormal increase in hunger and appetite that is often insatiable. Despite eating a full healthy meal the children will continue to feel hungry.

Tumours of neural crest origin

Neuroendocrine tumours (NETs) are present in an estimated 40 percent of those children diagnosed with ROHHAD, these children are classed as having ROHHADNET. The tumours can be found in the chest, abdomen or anywhere along the sympathetic nervous system chain and can develop at any age, they can be both malignant and benign.