ROHHAD Syndrome

What is ROHHAD syndrome?

ROHHAD syndrome is an extremely rare, life-threatening disorder that affects a child’s endocrine system, autonomic nervous system and breathing. Children with ROHHAD syndrome gain a significant amount of weight in a short period of time. Additional symptoms include changes in breathing when asleep and sometimes when awake. It can also be associated with changes in behavior and emotional regulation.

ROHHAD syndrome is a fairly new condition, first described in 1965. To date, there are less than 200 documented cases of ROHHAD syndrome worldwide. Experts continue to research the condition in hopes of discovering a cure. There’s no specific test or treatment for ROHHAD syndrome. Rather, healthcare providers manage the condition by addressing each individual symptom.

What are the symptoms of ROHHAD syndrome?

Prior to the onset of symptoms, children with ROHHAD syndrome usually have good health with typical growth and development. Your child may develop ROHHAD syndrome up to age 9, but most children start showing signs between ages 2 and 4.

The acronym ROHHAD refers to the hallmark symptoms of the condition:

• (RO) Rapid-onset obesity: This refers to dramatic and rapid weight gain with an associated increase in appetite (20 to 30 pounds over three to 12 months, for instance).
• (H) Hypothalamic dysregulation: The hypothalamus is a part of your brain that controls your pituitary gland and regulates several body functions like growth, weight, appetite, puberty, emotions and behavior. If your child has hypothalamic dysregulation, they may have symptoms like obesity, short stature, seizures, developmental delay, too much or too little urination, and early or late puberty. They can also develop hypothyroidism and diabetes.
• (H) Hypoventilation: Children with ROHHAD can’t properly regulate their breathing. Their body doesn’t take deeper breaths or faster breaths when oxygen levels are low, and their carbon dioxide levels are high. In children with ROHHAD, this can often initially present as respiratory failure from a mild respiratory illness such as a cold or following anesthesia.
• (AD) Autonomic dysregulation: Your autonomic nervous system (ANS) controls basic functions like breathing, digestion, heart rate and body temperature. Children with damage to their ANS can develop symptoms like bradycardia (an abnormally slow heart rate), decreased body temperature and reduced sensitivity to pain.

What causes ROHHAD syndrome?

Experts don’t know what causes ROHHAD syndrome. But there are three main ongoing theories, including:

• Genetics. Many researchers believe a genetic mutation causes ROHHAD syndrome. But so far, they haven’t identified a specific one.
• Epigenetics. Some researchers believe that, in some cases, the genes that manage certain body functions can turn on and off. A research study on identical twins — one who developed ROHHAD syndrome and one who didn’t — supports this theory.
• Autoimmunity. Some research studies link autoimmune diseases to ROHHAD syndrome. One study found immunoglobulins in the cerebrospinal fluid (CSF) of two children with ROHHAD. Researchers used this information to identify inflammation in the central nervous system (CNS).

What are the complications of ROHHAD syndrome?

In addition to the hallmark symptoms listed at the beginning of this section, children with ROHHAD syndrome may develop complications like:

• Mood and behavioral conditions. These conditions cause symptoms like irritability, aggression, hyperactivity, fatigue, anxiety, depression and intellectual disability.
• Neurologic conditions. Children with ROHHAD syndrome may have seizures, nystagmus (abnormal shaking of the eyes), sleep apnea or developmental disorders.
• Metabolic disorders. Common metabolic disorders among children with ROHHAD syndrome include diabetes, insulin resistance, impaired glucose intolerance and steatotic (fatty) liver disease.
• Neural tumors. About 40% to 56% of children with ROHHAD syndrome develop nerve tumors like ganglioneuroma. Most of these tumors are benign (noncancerous), but they can be malignant (cancerous).
• Cardiorespiratory arrest. This potentially fatal complication refers to the sudden loss of breathing and heart function.

How is ROHHAD syndrome diagnosed?

Currently, there’s no single test that can provide a definitive ROHHAD diagnosis. Rather, healthcare specialists work together to find a diagnosis based on the unique combination of symptoms.

To receive a ROHHAD diagnosis, a child must have:

• Rapid-onset obesity and hypoventilation during sleep.
• Hypothalamic dysfunction symptoms like rapid weight gain, hypothyroidism or altered (early or late) puberty.
• Absence of PHOX2B gene variant to distinguish between ROHHAD and CCHS (congenital central hypoventilation syndrome) — another condition that shares some of the same symptoms, like shallow breathing during sleep.
• Symptoms are absent during the first few years of life.

Due to the rarity of ROHHAD, many children are initially misdiagnosed.

How is ROHHAD syndrome treated?

ROHHAD syndrome treatment depends on your child’s symptoms, and every treatment plan is unique. There’s one exception, though. Once children with ROHHAD demonstrate abnormal breathing in sleep, they’ll need to use a CPAP or BiPAP, and eventually use a ventilator to support their breathing.

Children with ROHHAD syndrome may receive care from a range of pediatric experts, including:

• Pulmonologists.
• Neurologists.
• Endocrinologists.
• Otolaryngologists.
• Cardiologists.
• Sleep specialists.
• Nutritionists.
• Oncologists.
• Psychologists.
• Psychiatrists.

Can ROHHAD syndrome be prevented?

There’s no known way to prevent ROHHAD syndrome — at least not yet.

What’s the outlook for children with ROHHAD syndrome?

There’s currently no cure for ROHHAD syndrome. The main goal of treatment is to manage the unique symptoms of each child.

ROHHAD syndrome life expectancy

Due to the rarity of ROHHAD syndrome, life expectancy is hard to estimate.

Cardiorespiratory arrest is the most common cause of death.