What is ROHHAD?
ROHHAD, or R
besity with H
ypothalamic dysfunction, H
ypoventilation, and A
ysregulation, is a rare disorder affecting the endocrine system and the autonomic nervous system. The endocrine system is made up of glands that produce secretions necessary for the normal function of the body, including metabolic activity, growth, sexual maturation, and responses to stress. The endocrine system includes glands such as the pituitary, thyroid, parathyroids, and adrenals glands. The autonomic nervous system governs involuntary actions (including glandular secretion) by stimulating the smooth and cardiac muscles and glandular tissues. The autonomic nervous system is responsible for respiration, controlling the heart and blood pressure, temperature regulation, and digestive processes. ROHHAD typically develops in otherwise healthy children, usually after 1.5 years of age. Its primary symptom, rapid-onset obesity, precludes all other symptoms.
What causes ROHHAD?
The exact cause of ROHHAD is unknown; however, due to instances where more than one family member has been affected, some suspect it may be inherited.
How is ROHHAD diagnosed?
Because ROHHAD is a condition made up of multiple other conditions, and because those conditions develop over time, it can take several months to years to diagnose ROHHAD after the appearance of the first symptom, rapid-onset obesity. Children suspected of having ROHHAD should be monitored for the development of other symptoms. Diagnosis is typically made with the presence of rapid-onset obesity and hypoventilation during sleep, after other potential conditions have been ruled out.
What are the common symptoms of ROHHAD?
The acronym ROHHAD is also descriptive of the symptoms and the order in which they typically present:
- Rapid-onset obesity: dramatic weight gain (about 30 pounds) in a six to 12-month period, within the first ten years of life
- Hypothalamic dysfunction: refers to diminished performance of the hypothalamus, a part of the brain that helps regulate autonomic (involuntary) functions. With ROHHAD, hypothalamic dysfunction may refer more specifically to the inability to maintain normal water balance in the body
- Hypoventilation (deficiency of the lungs): can result in decreased oxygen and increased carbon dioxide circulating within the blood, resulting in shallow breathing during sleep
- Autonomic dysregulation: refers to an inability of the autonomic nervous system to function properly. The ANS controls involuntary functions of the body, including body temperature, heart rate, sweating, some behavior of the eyes, such as response to light, and digestive processes
In addition to the above symptoms, ROHHAD may also include:
- Early or late puberty
- Growth hormone deficiency
- High prolactin levels
- Mild to severe behavioral problems
Children affected by ROHHAD are also at an increased risk for certain types of tumors.
How is ROHHAD treated?
There is no cure for ROHHAD, so treatment varies depending on the symptoms that are present. Because ROHHAD can affect different parts of the body, those with the condition are often treated by a team of healthcare professionals. Primary treatment may involve a nutritionist, an endocrinologist, a pulmonologist, and a respiratory therapist. Other types of healthcare providers who can help treat ROHHAD include cardiologists, gastroenterologists, neurologists, speech and language therapists, and special education teachers. Treatment should also include regular screening for the development of certain types of tumors.
Where can I find more information on ROHHAD?