ROHHAD – A Doctor’s View
ROHHAD syndrome is a rare syndrome affecting children, causing previously normal healthy children to gain weight and have breathing difficulties, as well as other problems. Almost every child with ROHHAD syndrome is different as they vary in the timing of the onset of symptoms as well as the degree and range of features. As there is no definitive test for ROHHAD syndrome and it is primarily a descriptive syndrome, the diagnosis is challenging and not always considered. It is likely that ROHHAD syndrome is not one single condition, but a collection of similar conditions with different causes which would explain the wide spectrum seen in this syndrome. Due to the unpredictable nature of ROHHAD syndrome and the associated unexpected death, both health professionals and families want to be sure of the diagnosis.
This life- threatening condition needs greater awareness and understanding. Although some research has been done looking into genetic causes, it is very limited. It remains unclear whether the syndrome has an underlying genetic cause or whether there are other factors. More research in this condition is required, not only to improve diagnosis, but also to develop therapies to treat and improve the lives of these children and hopefully prevent the severe morbidities associated with ROHHAD syndrome, especially cardio-respiratory arrest.
ROHHAD is an acronym
Rapid Onset Obesity, with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation
Children inflicted with ROHHAD appear normal at birth and the onset of symptoms does not begin until after 1 years of age. The symptoms can begin anytime from age 1 to age 7 and the median age for symptoms to begin is 3. Once the symptoms begin it can take many years for the abnormalities to manifest and evolve into the features of ROHHAD.
• 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.
• Hypothalamic and Endocrine abnormalities
These can develop at any point but normally after the rapid onset obesity. Includes an inability to maintain normal water balance in the body, low thyroid hormone, low growth hormone, 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 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 life threatening condition 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 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 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.
• Eye abnormalities
Such as lazy eye (strabismus) and astigmatism can also develop.
• Body temperature dysregulation
can occur with changes being either high or low 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
Movement due to the size of the body and also due to the life threatening part of the condition. Some of those affected are restricted in exercise due to the danger and risk of cardio-respiratory arrest.
Not all children with ROHHAD experience seizures, but they can be a symptom that is present.
• Some of the children also have a diagnosis of autism and there are some behavioural/mood and developmental disorders associated with ROHHAD.
This 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
Are present in an estimated 40 percent of those children diagnosed with ROHHAD. The tumours can be found in the chest, abdomen or anywhere along the sympathetic nervous system chain and can develop at any age.
At the moment there is approximately 100 cases of confirmed ROHHAD worldwide. It is suspected that this number is higher.
Not enough medical professionals are aware of ROHHAD.
It is also possible that children who have lost their life due to cardiac arrest from obesity may have been inflicted with ROHHAD.
There are children who do not have a definitive diagnosis yet and are being treated as possible ROHHAD. These children are not included in the 100 confirmed cases.
Whilst ROHHAD is an extremely rare condition it is more realistic that the number of children affected is larger than 100 cases worldwide.
Five children that we are aware of have lost their battle with ROHHAD this year alone… We believe that even one child is too many…
Research is imperative to improving the children’s quality of life and developing a better understanding of ROHHAD.
We aim to raise the funds to pay for Research into finding out why this occurs in some children and what causes ROHHAD. Through research we have the potential to cure ROHHAD. You can help make that happen by donating today,or by helping to raise funds and awareness for ROHHAD association. Please visit our how you can help page.
The ROHHAD Association will add statistics to this page as research into ROHHAD gives us confirmed numbers.
ROHHAD is a life threateningly complex, rare, life limiting condition that devastates the lives of an estimated 100 children worldwide and their families. Please help us save our children.
You can read more about ROHHAD on the NORD Website.
The National Organisation for Rare Disorders
This post is also available in: French