ROHHAD: Difference between revisions
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{{Infobox medical condition | {{Infobox medical condition | ||
| name = ROHHAD | | name = ROHHAD | ||
| image = | | image = [[File:Haven_ROHHAD.jpg|alt=Image of a child with ROHHAD syndrome]] | ||
| caption = | | caption = A child with ROHHAD syndrome | ||
| | | synonyms = Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation | ||
| symptoms = Rapid-onset obesity | | specialty = [[Endocrinology]], [[Pediatrics]], [[Neurology]] | ||
| onset = | | symptoms = Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation | ||
| duration = Chronic | | onset = Typically in early childhood | ||
| causes = Unknown | | duration = Chronic | ||
| risks = | | causes = Unknown | ||
| diagnosis = Clinical evaluation, | | risks = Unknown | ||
| treatment = Symptomatic management | | diagnosis = Clinical evaluation, exclusion of other conditions | ||
| prognosis = Variable | | differential = [[Congenital central hypoventilation syndrome]], [[Prader-Willi syndrome]], [[Cushing's syndrome]] | ||
| frequency = Rare | | treatment = Symptomatic management, [[ventilatory support]], [[hormone replacement therapy]] | ||
| prognosis = Variable, can be life-threatening | |||
| frequency = Rare | |||
}} | }} | ||
'''ROHHAD''' is an acronym for '''Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation'''. It is a rare and complex pediatric disorder characterized by a constellation of symptoms that typically begin in early childhood. The etiology of ROHHAD is currently unknown, and it presents significant challenges in diagnosis and management. | '''ROHHAD''' is an acronym for '''Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation'''. It is a rare and complex pediatric disorder characterized by a constellation of symptoms that typically begin in early childhood. The etiology of ROHHAD is currently unknown, and it presents significant challenges in diagnosis and management. | ||
==Clinical Features== | ==Clinical Features== | ||
ROHHAD syndrome is marked by a distinct set of clinical features: | ROHHAD syndrome is marked by a distinct set of clinical features: | ||
===Rapid-onset Obesity=== | ===Rapid-onset Obesity=== | ||
Children with ROHHAD experience a sudden and dramatic increase in weight, often over a period of 6 to 12 months. This rapid weight gain is not associated with changes in diet or physical activity levels and is one of the earliest signs of the disorder. | Children with ROHHAD experience a sudden and dramatic increase in weight, often over a period of 6 to 12 months. This rapid weight gain is not associated with changes in diet or physical activity levels and is one of the earliest signs of the disorder. | ||
===Hypothalamic Dysfunction=== | ===Hypothalamic Dysfunction=== | ||
The [[hypothalamus]] is a critical brain region involved in regulating various bodily functions, including hunger, thirst, sleep, and temperature. In ROHHAD, hypothalamic dysfunction can lead to: | The [[hypothalamus]] is a critical brain region involved in regulating various bodily functions, including hunger, thirst, sleep, and temperature. In ROHHAD, hypothalamic dysfunction can lead to: | ||
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* [[Sleep disturbances]] | * [[Sleep disturbances]] | ||
* [[Thermoregulatory instability]] | * [[Thermoregulatory instability]] | ||
===Hypoventilation=== | ===Hypoventilation=== | ||
Hypoventilation refers to inadequate ventilation leading to elevated levels of carbon dioxide in the blood. In ROHHAD, this can manifest as: | Hypoventilation refers to inadequate ventilation leading to elevated levels of carbon dioxide in the blood. In ROHHAD, this can manifest as: | ||
| Line 35: | Line 33: | ||
* Daytime hypoventilation | * Daytime hypoventilation | ||
* Respiratory failure | * Respiratory failure | ||
===Autonomic Dysregulation=== | ===Autonomic Dysregulation=== | ||
The [[autonomic nervous system]] controls involuntary bodily functions. In ROHHAD, autonomic dysregulation may present as: | The [[autonomic nervous system]] controls involuntary bodily functions. In ROHHAD, autonomic dysregulation may present as: | ||
| Line 42: | Line 39: | ||
* [[Gastrointestinal dysmotility]] | * [[Gastrointestinal dysmotility]] | ||
* [[Pupillary abnormalities]] | * [[Pupillary abnormalities]] | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosing ROHHAD is challenging due to its rarity and the overlap of symptoms with other conditions. A comprehensive clinical evaluation is essential, including: | Diagnosing ROHHAD is challenging due to its rarity and the overlap of symptoms with other conditions. A comprehensive clinical evaluation is essential, including: | ||
| Line 49: | Line 45: | ||
* [[Magnetic resonance imaging]] (MRI) of the brain to evaluate hypothalamic abnormalities | * [[Magnetic resonance imaging]] (MRI) of the brain to evaluate hypothalamic abnormalities | ||
* Genetic testing to rule out other syndromes, such as [[Congenital Central Hypoventilation Syndrome]] (CCHS) | * Genetic testing to rule out other syndromes, such as [[Congenital Central Hypoventilation Syndrome]] (CCHS) | ||
==Etiology== | ==Etiology== | ||
The exact cause of ROHHAD remains unknown. Current research suggests a possible genetic component, although no specific genetic mutations have been consistently identified. Some studies have proposed an autoimmune mechanism, but further research is needed to confirm these hypotheses. | The exact cause of ROHHAD remains unknown. Current research suggests a possible genetic component, although no specific genetic mutations have been consistently identified. Some studies have proposed an autoimmune mechanism, but further research is needed to confirm these hypotheses. | ||
==Management== | ==Management== | ||
There is no cure for ROHHAD, and treatment focuses on managing symptoms and preventing complications. A multidisciplinary approach is often required, involving: | There is no cure for ROHHAD, and treatment focuses on managing symptoms and preventing complications. A multidisciplinary approach is often required, involving: | ||
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* [[Neurologists]] for autonomic dysfunction | * [[Neurologists]] for autonomic dysfunction | ||
* [[Psychologists]] for behavioral and emotional support | * [[Psychologists]] for behavioral and emotional support | ||
Specific interventions may include: | Specific interventions may include: | ||
* [[Ventilatory support]] such as [[non-invasive ventilation]] or [[tracheostomy]] | * [[Ventilatory support]] such as [[non-invasive ventilation]] or [[tracheostomy]] | ||
* [[Hormone replacement therapy]] for endocrine abnormalities | * [[Hormone replacement therapy]] for endocrine abnormalities | ||
* [[Behavioral therapy]] and [[dietary management]] for obesity | * [[Behavioral therapy]] and [[dietary management]] for obesity | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with ROHHAD varies. Early diagnosis and comprehensive management can improve quality of life and reduce the risk of life-threatening complications. However, the disorder is chronic, and ongoing medical care is typically required. | The prognosis for individuals with ROHHAD varies. Early diagnosis and comprehensive management can improve quality of life and reduce the risk of life-threatening complications. However, the disorder is chronic, and ongoing medical care is typically required. | ||
==Research Directions== | ==Research Directions== | ||
Ongoing research aims to better understand the pathophysiology of ROHHAD and to identify potential genetic or environmental factors contributing to the disorder. Collaborative efforts are needed to develop targeted therapies and improve outcomes for affected individuals. | Ongoing research aims to better understand the pathophysiology of ROHHAD and to identify potential genetic or environmental factors contributing to the disorder. Collaborative efforts are needed to develop targeted therapies and improve outcomes for affected individuals. | ||
==See Also== | ==See Also== | ||
* [[Congenital Central Hypoventilation Syndrome]] | * [[Congenital Central Hypoventilation Syndrome]] | ||
* [[Prader-Willi Syndrome]] | * [[Prader-Willi Syndrome]] | ||
* [[Obesity hypoventilation syndrome]] | * [[Obesity hypoventilation syndrome]] | ||
==External Links== | ==External Links== | ||
* [ | * [https://www.rohhadassociation.com/ ROHHAD Association] | ||
* [ | * [https://rarediseases.org/rare-diseases/rohhad/ National Organization for Rare Disorders (NORD) - ROHHAD] | ||
{{rare diseases}} | |||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatric endocrinology]] | [[Category:Pediatric endocrinology]] | ||
[[Category:Respiratory diseases]] | [[Category:Respiratory diseases]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 05:57, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| ROHHAD | |
|---|---|
| |
| Synonyms | Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation |
| Pronounce | N/A |
| Specialty | Endocrinology, Pediatrics, Neurology |
| Symptoms | Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation |
| Complications | N/A |
| Onset | Typically in early childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Unknown |
| Risks | Unknown |
| Diagnosis | Clinical evaluation, exclusion of other conditions |
| Differential diagnosis | Congenital central hypoventilation syndrome, Prader-Willi syndrome, Cushing's syndrome |
| Prevention | N/A |
| Treatment | Symptomatic management, ventilatory support, hormone replacement therapy |
| Medication | N/A |
| Prognosis | Variable, can be life-threatening |
| Frequency | Rare |
| Deaths | N/A |
ROHHAD is an acronym for Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation. It is a rare and complex pediatric disorder characterized by a constellation of symptoms that typically begin in early childhood. The etiology of ROHHAD is currently unknown, and it presents significant challenges in diagnosis and management.
Clinical Features[edit]
ROHHAD syndrome is marked by a distinct set of clinical features:
Rapid-onset Obesity[edit]
Children with ROHHAD experience a sudden and dramatic increase in weight, often over a period of 6 to 12 months. This rapid weight gain is not associated with changes in diet or physical activity levels and is one of the earliest signs of the disorder.
Hypothalamic Dysfunction[edit]
The hypothalamus is a critical brain region involved in regulating various bodily functions, including hunger, thirst, sleep, and temperature. In ROHHAD, hypothalamic dysfunction can lead to:
Hypoventilation[edit]
Hypoventilation refers to inadequate ventilation leading to elevated levels of carbon dioxide in the blood. In ROHHAD, this can manifest as:
- Sleep apnea
- Daytime hypoventilation
- Respiratory failure
Autonomic Dysregulation[edit]
The autonomic nervous system controls involuntary bodily functions. In ROHHAD, autonomic dysregulation may present as:
- Bradycardia or tachycardia
- Blood pressure instability
- Gastrointestinal dysmotility
- Pupillary abnormalities
Diagnosis[edit]
Diagnosing ROHHAD is challenging due to its rarity and the overlap of symptoms with other conditions. A comprehensive clinical evaluation is essential, including:
- Detailed medical history and physical examination
- Polysomnography to assess sleep-related breathing disorders
- Magnetic resonance imaging (MRI) of the brain to evaluate hypothalamic abnormalities
- Genetic testing to rule out other syndromes, such as Congenital Central Hypoventilation Syndrome (CCHS)
Etiology[edit]
The exact cause of ROHHAD remains unknown. Current research suggests a possible genetic component, although no specific genetic mutations have been consistently identified. Some studies have proposed an autoimmune mechanism, but further research is needed to confirm these hypotheses.
Management[edit]
There is no cure for ROHHAD, and treatment focuses on managing symptoms and preventing complications. A multidisciplinary approach is often required, involving:
- Endocrinologists for hormonal imbalances
- Pulmonologists for respiratory support
- Neurologists for autonomic dysfunction
- Psychologists for behavioral and emotional support
Specific interventions may include:
- Ventilatory support such as non-invasive ventilation or tracheostomy
- Hormone replacement therapy for endocrine abnormalities
- Behavioral therapy and dietary management for obesity
Prognosis[edit]
The prognosis for individuals with ROHHAD varies. Early diagnosis and comprehensive management can improve quality of life and reduce the risk of life-threatening complications. However, the disorder is chronic, and ongoing medical care is typically required.
Research Directions[edit]
Ongoing research aims to better understand the pathophysiology of ROHHAD and to identify potential genetic or environmental factors contributing to the disorder. Collaborative efforts are needed to develop targeted therapies and improve outcomes for affected individuals.
See Also[edit]
External Links[edit]
NIH genetic and rare disease info[edit]
ROHHAD is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - ROHHAD
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