breaking down ROHHAD

ROHHAD stands for
Rapid Onset Obesity with
Hypothalamic Dysfunction,
Hypoventilation and
Autonomic Dysregulation

Whenever someone asks what Joshua has, it is sure a mouthfull to give the full name of the diagnosis.. but that is it.

So, let's break it down and give some definitions and examples, to help everyone better understand it.

Rapid Onset Obesity

seems pretty self explanatory
you gain a great deal of weight very quickly even when you don't suddenly begin overeating, etc.

Hypothalamic dysfunction

Overview
Hypothalamic dysfunction is a problem with the region of the brain called the hypothalamus, which helps control the pituitary gland and regulate many body functions.

Symptoms
Symptoms generally relate to the hormones that are missing. In children, there may be growth problems -- either too much growth or too little -- or puberty that occurs too early or too late.

Tumor symptoms:
Headaches, Loss of vision

Hypothyroidism symptoms:
Breast enlargement, Cold intolerance, Fatigue,
Hair or skin changes, Impotence,
Loss of body hair and muscle (in men),
Menstrual disturbance, Weight gain

Low adrenal function symptoms:
Dizziness, Weakness
Other, less common symptoms may include:
Body temperature disturbance,
Emotional abnormalities, Excess thirst,
Obesity, Uncontrolled urination

Kallmann's syndrome (a type of hypothalamic dysfunction that occurs in men) symptoms:
Lowered function of sexual hormones (hypogonadism)
Inability to smell

Treatment
Treatment depends on the cause of the hypothalamic dysfunction.

Tumors -- surgery or radiation

Hormonal deficiencies -- replace missing hormones

Specific treatments may be available for bleeding, infection, and other causes.

Causes
The hypothalamus helps control the pituitary gland, particularly in response to stress. The pituitary, in turn, controls the:
Adrenal glands, Ovaries, Testes, Thyroid gland

The hypothalamus also helps regulate:
Body temperature, Childbirth, Emotions,
Growth, Milk production, Salt and water balance,
Sleep, Weight and appetite
Causes of hypothalamic dysfunction include:
Anorexia, Bleeding, Bulimia,
Genetic disorders, Growths (tumors),
Head trauma, Infections and swelling (inflammation).
Malnutrition, Radiation, Surgery, Too much iron

The most common tumors in the area are craniopharyngiomas in children.

Tests & diagnosis
Blood or urine tests to determine levels of hormones such as:
Cortisol, Estrogen, Growth hormone,
Pituitary hormones, Prolactin,
Testosterone, Thyroid

Other possible tests:
Hormone injections followed by timed blood samples,
MRI or CT scans of the brain,
Visual field eye exam (if there is a tumor)

Prognosis
Many causes of hypothalamic dysfunction are treatable. Most of the time missing hormones can be replaced.

Prevention
Maintain a healthy diet and don't exercise too strenuously or lose weight too quickly. If you believe you have an eating disorder such as anorexia or bulimia, get medical attention: these conditions can be life-threatening.
If you have symptoms of a hormonal deficiency, discuss replacement therapy with your health care provider.

Complications
Complications of hypothalamic dysfunction depend on the cause.

Brain tumors:
Permanent blindness
Specific problems related to the brain area where the tumor occurs
Vision disorders

Hypothyroidism:
Heart problems
High cholesterol

Adrenal insufficiency:
Inability to deal with stress (such as surgery or infection)

Gonadal deficiency:
Heart disease
Impotence (in men)
Infertility
Thin bones (osteoporosis)

Growth hormone deficiency:
High cholesterol
Osteoporosis
Short stature (in children)
Weakness

When to contact a doctor
Call your doctor if you have:
Headaches
Symptoms of hormone excess or deficiency
Vision problems

Hypoventilation

from Wikipedia

In medicine, hypoventilation (also known as respiratory depression) occurs when ventilation is inadequate[1] (hypo means "below") to perform needed gas exchange. By definition it causes an increased concentration of carbon dioxide (hypercapnia) and respiratory acidosis.

Causes
It can be caused by medical conditions, such as stroke affecting the brain stem, by holding one's breath, or by drugs, typically when taken in overdose.

Effects
As a side effect of medicines or recreational drugs, hypoventilation may become potentially life-threatening. Many different CNS depressant drugs such as alcohol, benzodiazepines, barbiturates, GHB, sedatives and opiates produce respiratory depression when taken in large or excessive doses; however this is most commonly seen as a cause of death with opiates or opioids, particularly when they are combined with sedatives such as alcohol or benzodiazepines. Strong opiates, (fentanyl, heroin, morphine, etc), barbiturates, and the benzodiazepine, temazepam, are notorious for producing this effect; in an overdose, an individual may cease breathing entirely (go into respiratory arrest) which is rapidly fatal without treatment.

Treatment
Respiratory stimulants such as nikethamide were traditionally used to counteract respiratory depression from CNS depressant overdose, but were of only limited effectiveness. A new respiratory stimulant drug BIMU8 is currently being investigated which seems to be significantly more effective and may be useful for counteracting the respiratory depression produced by opiates and similar drugs without offsetting their therapeutic or recreational effects.

Associated conditions
Disorders referred to as "Congenital Central Hypoventilation Syndrome" or "CCHS" and "Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, with Autonomic Dysregulation" or ROHHAD are recognized. CCHS condition may be a significant factor in some cases of sudden infant death syndrome or SIDS, often termed "cot death" or "crib death."


The opposite condition is hyperventilation (too much ventilation), resulting in low carbon dioxide levels (hypocapnia), rather than hypercapnia.


Autonomic Dysregulation

from http://www.drmueller-healthpsychology.com/autonomic_dysregulation.html

What is Autonomic Dysregulation?
The autonomic nervous system controls most of the involuntary reflexive activities of the human body. The system is constantly working to regulate the glands and many of the muscles of the body through the release or uptake of the neurotransmitters acetylcholine and norepinephrine. The autonomic nervous system is made up of two primary parts: the sympathetic and parasympathetic systems.


The sympathetic nervous system prepares the body for emergencies or times of stress and is responsible for the body's "fight or flight" response when faced with a dangerous situation. During this response, the heart rate and blood pressure increase, the pupils of the eye dilate, and the digestive system slows down.

The parasympathetic system helps the body's functions return to normal after they have been stimulated by the sympathetic nervous system and also has some responsibility for keeping the body's immune system properly functioning.

Autonomic dysregulation involves malfunctioning of the autonomic nervous system, the portion of the nervous system that conveys impulses between the blood vessels, heart, and all the organs in the chest, abdomen, and pelvis and the brain (mainly the medulla, pons and hypothalamus).


Here is an article I found about a treatment for Hypothalamic Dysfunction

Immunoglobulin Therapy in Idiopathic Hypothalamic Dysfunction
Peter Huppke, MD, Alexander Heise, MD†, Kevin Rostasy, MD‡, Brenda Huppke, MD

Received 19 January 2009; accepted 18 March 2009.

Idiopathic hypothalamic dysfunction is a rare disorder presenting at age 3-7 years. Severe hypothalamic and brainstem dysfunction leads to death in 25% of patients. The disease is presumed to be autoimmune, or in some cases paraneoplastic. No successful treatment has been reported. Patient V. developed hyperphagia, hypersomnia, and extreme aggression at age 7 years, accompanied by episodes of hyperthermia, hypothermia, sinus bradycardia, hypernatremia, hyponatremia, persistent hyperprolactinemia, hypothyroidism, and growth-hormone deficiency. At age 9 years, a diagnosis of idiopathic hypothalamic dysfunction was rendered, and immunoglobulin therapy was commenced. Nine courses of immunoglobulins, at a dose of 2 g/kg every 4 weeks, were administered. Reproducible improvements in behavior and no further episodes of hyponatremia or hypernatremia and sinus bradycardia were evident. The endocrinologic abnormalities and poor thermoregulation remained. Administration of immunoglobulins during late stages of idiopathic hypothalamic dysfunction led to improvement in some but not all signs. Assuming an autoimmune basis for this disorder, treatment during early stages of disease should be more effective. To facilitate such early treatment, increased awareness of this disorder is necessary, to allow for early diagnosis.

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany
† Department of Child and Adolescent Psychiatry, Georg August University, Göttingen, Germany
‡ Division of Pediatric Neurology, Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria

Communications should be addressed to: Dr. Huppke; Department of Pediatrics and Pediatric Neurology; Faculty of Medicine, Georg August University; Robert-Koch-Strasse 40; D-37075 Göttingen, Germany.
PII: S0887-8994(09)00163-5
doi:10.1016/j.pediatrneurol.2009.03.017
© 2009 Elsevier Inc. All rights reserved.