Loading…

Protocol - Disorders of Respiratory Control with Inherent Autonomic Dysregulation

Add to My Toolkit
Description:

The American Thoracic Society (ATS) policy statement regarding Congenital Central Hypoventilation Syndrome (CCHS) is a comprehensive guide for diagnosing an individual with CCHS by evaluating their phenotype and determining their paired-like homeobox gene (PHOX2B) genotype. Evaluation via the ATS statement involves completion of (1) the Autonomic Nervous System Questionnaire (ANSQ), (2) stepwise PHOX2B genetic testing, and (3) physiologic and other clinical testing.

  • The ANSQ is a self-administered questionnaire including 46 questions with the purpose of measuring Autonomic Nervous System Dysregulation. It is also available as a REDCap Registry through a research protocol.
  • Genetic testing to identify CCHS-related mutations in the PHOX2B gene involves step-wise testing with Step 1. PHOX2B Screening Test, Step 2. PHOX2B Sequencing Test, and Step 3. PHOX2B MLPA Test.
  • Physiologic and other clinical testing during wakefulness and sleep and other testing to evaluate patients in activities of daily living in keeping with the ATS 2010 Statement on CCHS.

Protocol:

Autonomic Nervous System Questionnaire (ANSQ):

First we are going to draw your family tree. Be sure to include any abortions (spontaneous and elective) and any infant deaths including sudden infant death syndrome (SIDS). (See step by step family tree diagram.)

Now that we’ve drawn your family tree, I’m going to ask you specific questions that you should answer first about the individual with CCHS (might be you or your child) and then about anyone you’ve described in your family tree.

Are you or any other adults (18 years of age or older) in your family:

Over 6’2?

Under 4’8?

Over 200 lbs?

Under 90 lbs?

Have any minors (under 18 years of age) in your family had atypical growth patterns?

Delayed growth?

Accelerated growth?

Have you or anyone in your family ever been diagnosed with obesity?

Yes ___ No ___

Do you or anyone in your family have growth hormone deficiency or excess?

Yes ___ No ___

Do you or anyone in your family have any known significant medical problems?

Yes ___ No ___

Remember when you answer these questions we would like to know if you ever experienced these problems at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

Such as:

Endocrine problems:

Have you ever had low blood sugar (hypoglycemia) or high blood sugar?

Diabetes: childhood onset, pregnancy related, or adult onset

Thyroid disease

Phenochromocytoma

Parathyroid tumor

Carcinoid

Tumors of neural crest origin such as neuroblastoma,

ganglioneuroma, ganglioneuroblastoma

Heart disease:

Hypertension

Cardiac pacemaker

Bypass surgery

Heart attack

Mitral valve prolapse

Cancer and type:

GI cancer - type

cancers of/in the chest

brain tumor

other cancers

Hearing problems:

Waardenberg syndrome - a white forelock of hair

GI problems:

Hirschsprung disease

Colic as an infant

Any unusual skin color - increase or decrease in pigmentation?

Are there any genetic disease that run in your family? Inborn errors?

Any history of Parkinson’s disease?

Have you ever had a wandering eye/told you have strabismus?

Other

Other

Other

Use the following scoring system to rate the following questions:

Frequency Score:

0= never or insignificant

Severity Score:

0= never

1= mild or infrequent (once per month)

1= mild symptoms

2= moderate symptoms

2= frequent (once per week)

3= severe symptoms

3= consistent once every 2-3 days

4= consistent (every day)

Cardiovascular System Questions:

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

1. Have you experienced episodes of dizziness in the past?

How severe is this problem?
Severity score 0-1-2-3

How often:
Frequency score 0-1-2-3-4

Age at onset of symptoms

When do symptoms occur:

Are there ever any precipitating or aggravating factors:

Early morning

After a meal

Prolonged standing

Exertion/walking

Is the dizziness ever associated with:

palpitations
nausea
vertigo


blurred vision
weakness
tremulousness


anxiety
pallor
clammy skin


Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

2. Have you experienced episodes of blurred vision or glare in the past?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with anything? Dizziness? Loss of consciousness?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

3. Have you experienced episodes of loss of consciousness in the past?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with anything? Dizziness? Overheating? Blurred vision?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

4. Have you experienced throbbing pounding headaches (not migraine) in the past?

How severe is this problem?
Severity score 0-1-2-3

Are any associated with your face becoming pale or becoming flushed or with sweating

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

5. Have you ever had facial pallor - paleness of the face associated with sweating?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

6. Have you ever had really cold fingers or toes?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

7. Have you ever had Raynaud’s phenomenon where your fingers go white, then blue and red?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

8. Have you ever been told by a doctor that you have:

postural hypotension

vasovagal syncope

paroxysmal hypertension

cardiac dysrhythmia

decreased heart rate variability

altered vascularity of face

decreased perfusion to extremities

Gastrointestinal System Questions

With these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

9. Have you ever had profuse oral secretions/drooling?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

10. Have you ever had dysphagia - difficulty swallowing?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

11. Have you ever had any of the following symptoms (gastroparesis)

Anorexia

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Early satiety

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Persistent sense of bloating/Fullness with abdominal distension

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Frequent nausea

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Recurrent vomiting

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

12. Have you ever had abdominal surgery? Do you have any scars on your body?

Date and reason

13. Have you ever been diagnosed or evaluated for Hirschsprung disease?

14. Have you ever had had constipation defined as inability to defecate without strenuous effort, presence of hard stools, bowel movements twice a week on average, regular use of mineral oil or other mild laxative?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for this?

If yes, was a diagnosis made?

15. Have you ever had (autonomic) diarrhea unrelated to a viral illness?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

16. Have you ever had abdominal pain? Have you experienced colic as an infant?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Neurologic System Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

17. Have you ever had migraine or cluster headaches?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with

ipsilateral (same side as the headache) eye watering

ipsilateral nasal drainage

miosis (pupil constriction)

ptosis (dropping eyelid)

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

18. Have you ever been told you had decreased muscle tone in your arms or legs?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

19. Have you ever had severe burning pain or causalgia of any body part? (For example - ears, fingers, toes, etc)

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

20. Have you ever had an altered perception of pain-either a high pain tolerance/not feel pain or a low pain tolerance/very sensitive to pain?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Ocular Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

21. Do you have unequal pupils?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

22. Do you have droopy eyelids?

Right Left Both

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made? Did they call it ptosis?

23. Were you told that your eyes do not respond well to light?

Right Left Both

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

24. Do you have tightly constricted pupils?

Right Left Both

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made? Was this called miosis?

25. Have you had problems with tearing?

Too little
absent
too much
inappropriate


How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

26. Have you ever had trouble with your vision accommodating or converging, i.e. fixing your gaze from far to near?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Psychological System Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

27. Have you ever had problems with anxiety?

Absent anxiety
Heightened anxiety


How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

28. Have you ever been diagnosed as having a learning disability, either verbal or non-verbal?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Was medication such as ritalin?     prozac?     caffeine?     ever prescribed?

29. Have you ever had problems with recognizing social cues around you?

Have you ever had problems making eye contact?

Do you comprehend facial expression, body language, gesture, and tone of voice?

Do you have social interests but lack the ability to initiate and maintain social relationships?

Renal and Urinary System Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

30. Have you ever had problems with retaining your urine or incomplete emptying of your bladder?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

31. Have you ever had problems with frequent urination?

During the day or at night?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

32. Have you ever had problems with urgency to urinate?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

33. Have you ever had problems with urinary incontinence?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Reproductive System Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree

34. Have you ever had problems with loss of libido?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

35. Adult male only: Have you ever had problems with erection or ejaculation?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

36. Adult male only: Have you ever had problems with priapism (the penis remains erect when not in use)?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Respiratory System Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

37. Have you ever had problems with stridor?

Inspiration
Expiration


How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

38. Do you notice or have you been told that you either sigh a lot or do not sigh at all?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

39. Have you ever had problems with apnea or an apparent life threatening event?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

40. Have you ever been given a diagnosis of alveolar hypoventilation?

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

41. Have you ever had problems with breath holding spells?

pallid
cyanotic
with/without loss of consciousness


How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

42. Has there ever been a SIDS death in your family?

43. Has anyone in the family been on a home monitor? As an infant, child, or adult?

Sudomotor System Questions

Remember when you answer these questions we would like to know if you ever experienced these symptoms at any time - as an infant, child or adult. Also, tell me first about you and then about any of the people you told me about when we drew the family tree.

44. Have you ever had problems with difficulty sweating?

Lack of sweating
local
generalized


Profuse sweating
face body
relation to ingestion of food


How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

45. Have you ever had problems with body temperature?

Too hot/hyperpyrexia

Too cold/hypothermia

How severe is this problem?
Severity score 0-1-2-3

Age at onset of symptoms

When do symptoms occur

Associated with any other symptoms?

How often:
Frequency score 0-1-2-3-4

Last event

Did you seek medical attention for these events?

If yes, was a diagnosis made?

Additional Questions (Answer "yes" or "no):

Have any members of your family tree been diagnosed with the following:

  1. Obstructive sleep apnea
  2. Asthma
  3. Snoring
  4. Depression (any kind)
  5. Seizures
  6. Multiple Sclerosis
  7. Prematurity
  8. Down syndrome
  9. Ulcerative colitis
    Crohn’s disease
    Irritable bowel syndrome
  10. Gastroesophageal reflux
  11. Stillbirths
  12. Issues related to menses

Genetic Testing:

Genetic testing (stepwise) is used to identify a CCHS-related PHOX2B mutation (required to confirm the diagnosis of CCHS). If Step 1 testing is negative, then Step 2 testing should be performed. If Step 2 testing is negative, then Step 3 testing should be performed. Normal PHOX2B genotype is 20/20 reflecting the number of alanines on each allele. Patients with CCHS are heterozygous for a disease-causing PHOX2B mutation. This testing should be done via a CLIA-certified laboratory. Information regarding these laboratories is located on www.genetests.org

  • Step 1. PHOX2B Screening Test (also known as Fragment Analysis or Genotyping Analysis): identifies all polyalanine repeat expansion mutations (PARMs)(genotypes 20/24-20/33), the large frameshift non-PARMs (NPARMs), and somatic mosaicism. It is the only clinically available test that will identify low level somatic mosaicism.
  • Step 2. PHOX2B Sequencing Test: identifies all known PARMs (genotypes 20/24-20/33) and all NPARMs. Does NOT identify low level somatic mosaicism.
  • Step 3. PHOX2B MLPA Test: identifies whole gene or whole exon deletions and duplications.

Physiologic and other clinical testing:

Physiologic and other clinical testing that follows the 2010 ATS Statement on CCHS recommendations is optimal to diagnose and provide conservative management of affected patients, with aim for longitudinal follow-up and objective measures before and after pharmacological intervention.

  • Detailed recording in a pediatric respiratory physiology laboratory for documentation of hypoventilation or absent spontaneous breathing asleep (most severe in non-REM sleep) and in varied activities of daily living while awake over the course of 4 days and 4 nights to adequately represent the patient’s needs. A subset of individuals with CCHS will hypoventilate awake and asleep. Testing should be completed during spontaneous breathing as well as with artificial ventilatory support.
    • Tidal volume (pneumotachograph) measurement
      • In CCHS below 7 cc/kg (usually below 5 cc/kg and lower asleep)
      • Normal range in healthy controls is 7-10 cc/kg
    • Movement (respiratory inductance plethysmography) of the chest and abdomen
    • Respiratory frequency
      • In CCHS, respiratory rates will typically be above norms for age.
      • General ranges for healthy norms is provided below:
        • Birth to 6 weeks: 30-60 breaths per minute (bpm)
        • 6 months: 25-40 bpm
        • 3 years: 20-30 bpm
        • 6 years: 18-25 bpm
        • 10 years: 12-15 bpm
        • Adults: 12-20 bpm
    • Hemoglobin saturation with visible pulse waveform and beat-to-beat measures
      • In CCHS below 92% during sleep and, if awake hypoventilation, when awake
    • End tidal carbon dioxide with visible breath-to-breath measures
      • In CCHS above 50 mmHg during sleep, and if awake hypoventilation, when awake
    • ECG
      • In CCHS decreased heart rate variability and in a subset of cases sinus pauses
    • If possible, measures of blood pressure and cerebral oxygenation/regional blood flow should be included
  • Exogenous and endogenous ventilatory challenges in response to hypoxemia and hypercarbia (awake and asleep)
    • In CCHS lack of a consistent or sustained normal ventilatory or cardiovascular response to clinical challenges with Hypercarbia (5%)/Hyperoxia (95%), Hypercarbia (7%)/Hypoxia (14%), and Hypoxia (5 breaths of nitrogen).
  • 72-hour Holter recording annually to evaluate for cardiac sinus pauses
  • Neurocognitive testing
  • Evaluation for tumors of neural crest origin if PHOX2B genotype 20/28-20/33 or NPARM
  • Evaluation for Hirschsprung disease
  • Age and symptom-specific autonomic testing
    • Birth through adult Poincaré plots of r-r +1 vs. r-r (cigar pattern in CCHS), pupillometry (typically decreased pupillary response to light but PHOX2B genotype-specific), and peripheral skin temperatures (typically mildly reduced)6 years through adult: head-up tilt (typically uncoupling of blood pressure and heart rate and altered cerebral regional blood flow), thermoregulatory sweat test (typically altered sweating pattern and reduced peripheral skin temperature), heart rate-deep breathing, Valsalva maneuver, and more depending on child’s symptoms and ability to cooperate.
Protocol Name from Source:

This section will be completed when reviewed by an Expert Review Panel.

Availability:

Publicly available

Personnel and Training Required

The interviewer must be trained to conduct personal interviews with individuals from the general population. The interviewer must be trained and found to be competent (i.e., tested by an expert) at the completion of personal interviews. The interviewer should be trained to prompt respondents further if a "don’t know" response is provided.

Equipment Needs

PHOX2B genetic testing: Clinical Laboratory Improvement Amendments (CLIA)-certified laboratories listed at www.genetests.org.

Physiologic testing:

NAME

FUNCTION

Audiovisual Systems

Audiovisual recording

Somnostar Data Acquisition System (Viasys)

Recording, therapist-assisted analysis, and reporting of physiological data, including tidal volume, inductance plethysmography of chest and abdomen, hemoglobin saturation (SpO2), end tidal carbon dioxide (ETCO2), ECG, blood pressure, and near-infrared spectroscopy reflecting cerebral oxygenation/regional blood flow (rSO2) during sleep and wakefulness (in varied activities of daily living asleep and awake, including head-up tilt)

Pneumotachograph (Korr Technologies)

Measures tidal volume

Oridion Capnostream 20

Measures continuous beat-to-beat SpO2 and pulse waveform as well as breath-to-breath ETCO2

Somanetics INVOS oximeter

Measures continuous regional cerebral blood flow/oxygenation (rSO2) by near-infrared spectroscopy (NIRS)

Neuroptics PLR 2000 Pupillometer

Measures pupillary response to fixed light stimulus with calculation of specific autonomic measures

Nexfin

Measures continuous beat-to-beat arterial blood pressure monitor (finger)

Welch Allyn Vital Signs Monitor 300

Measures brachial blood pressure monitor (arm)

Thermoregulatory Sweat Chamber with infrared Camera

Qualitative sweat analysis for pre- and postganglionic sudomotor function as well as Thermalprint distribution with heat map

WR Medical Electronics System

Autonomic testing data system to evaluate heart rate deep breathing test, Valsalva maneuver, and QSweat test (postganglionic sudomotor function)

Peripheral Skin Temperature (Exergen)

Measures peripheral skin temperature

Requirements
Requirement CategoryRequired
Major equipment No
Specialized training No
Specialized requirements for biospecimen collection No
Average time of greater than 15 minutes in an unaffected individual Yes
Mode of Administration

Self- or proxy-administered questionnaire

Life Stage:

Infant, Toddler, Child, Adolescent, Adult, Senior, Pregnancy

Participants:

Birth to adulthood

Specific Instructions:

The Rare Genetic Conditions Working Group (WG) acknowledges that (1) the Autonomic Nervous System Questionnaire (ANSQ) can be administered manually or through a Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry; (2) Genetic PHOX2B testing sites for step-wise testing are described in the 2010 American Thoracic Society (ATS) Statement on CCHS and are provided at www.genetests.org; and (3) the physiologic and autonomic testing would need to be provided in a laboratory with experience in polysomnography with application in wakefulness and sleep-and, ideally, in a center with extensive expertise in CCHS. The other clinical testing would need to be provided in a pediatric specialty program with extensive experience in ventilator management for children and if possible adults with disordered respiratory control and autonomic regulation.

Additionally, the WG recommends the PhenX Family History measure be used to capture information on family members in reference to the family tree in the ANSQ.

Selection Rationale

Collecting data on Congenital Central Hypoventilation Syndrome (CCHS) in a standard fashion is critical to understanding the condition throughout childhood and longitudinally throughout adulthood and for treatment of individuals with this condition.

The Rare Genetic Conditions Working Group (WG) recommends following the American Thoracic Society (ATS) policy statement regarding CCHS as a method for identifying appropriate participants for clinical research and epidemiological studies. The WG also notes that completion of the Autonomic Nervous System Questionnaire (ANSQ), step-wise PHOX2B genetic testing, and physiologic (and other clinical) testing is high burden but essential to fully characterize the CCHS phenotype and provide genetic confirmation of the diagnosis.

Language

English

Standards
StandardNameIDSource
Common Data Elements (CDE) Congenital Central Hypoventilation Questionnaire Assessment Text 4798137 CDE Browser
Derived Variables

None

Process and Review

This section will be completed when reviewed by an Expert Review Panel.

Source

Weese-Mayer, D. E., Berry-Kravis, E. M., Ceccherini, I., Keens, T. G., Loghmanee, D., & Trang, H; American Thoracic Society Congenital Central Hypoventilation Syndrome Subcommittee. (2010). An official American Thoracic Society clinical policy statement: Congenital central hypoventilation syndrome. Genetic basis, diagnosis, and management. American Journal of Respiratory and Critical Care Medicine, 181, 626-644.

Weese-Mayer, D. E., Patwari, P. P., Rand, C. M., Diedrich, A. M., Kuntz, N. L., & Berry-Kravis, E. M. (2012). Congenital Central Hypoventilation Syndrome (CCHS) and PHOX2B mutations. In D. Robertson, I. Biaggioni, G. Burnstock, P. A. Low, & J. F. R. Paton (Eds.), Primer on the autonomic nervous system (pp. pp. 445-450). Oxford: Academic Press.

Weese-Mayer, D. E., Silvestri, J. M., Huffman, A. D., Smok-Pearsall, S. M., Kowal, M. H., Maher, B. S., Cooper. M. E., & Marazita, M. L. (2001). Case/control family study of ANS dysfunction in idiopathic congenital central hypoventilation syndrome. American Journal of Medical Genetics, 100, 237-245.

General References

Carroll, M. S., Patwari, P. P., Kenny, A. S., Brogadir, C. D., Stewart, T. M., & Weese-Mayer, D. E. (2014). Residual chemosensory response to exogenous ventilatory challenges in paired-like homeobox 2B mutation-confirmed congenital central hypoventilation syndrome. Journal of Applied Physiology, 116, 439-450.

Gordon, S. C., Rand, C. M., & Weese-Mayer, D. E. (2013). Congenital central hypoventilation syndrome. In Rare Disease Database. Danbury, CT: National Organization for Rare Disorders. www.rarediseases.org.

Jennings, L. J., Yu, M., Rand, C. M., Kravis, N., Berry-Kravis, E. M., Patwari, P. P., & Weese-Mayer, D. E. (2012). Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatric Pulmonology, 47(2),153-161.

Jennings, L. J., Yu, M., Zhou, L., Rand, C. M., Berry-Kravis, E. M., & Weese-Mayer, D. E. (2010). Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagnostic Molecular Pathology, 19(4), 224-231.

Marazita, M. L., Maher, B. S., Cooper, M. E., Silvestri, J. M., Huffman, A. D., Smok-Pearsall, S. M., Kowal, M. H., & Weese-Mayer, D. E. (2001). Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with congenital central hypoventilation syndrome. American Journal of Medical Genetics, 100, 229-236.

Patwari, P. P., Stewart, T. M., Rand, C. M., Carroll, M. S., Kuntz, N. L., Kenny, A. S., Brogadir, C. D., & Weese-Mayer, D. E. (2012). Pupillometry in Congenital Central Hypoventilation Syndrome (CCHS): Quantitative evidence of autonomic nervous system dysregulation. Pediatric Research, 71(3), 280-285.

Weese-Mayer, D. E., Marazita, M. L., Rand, C. M., & Berry-Kravis, E. M. (2004). Congenital central hypoventilation syndrome. In R. A. Pagon, M. P. Adam, T. D. Bird, et al. (Eds.), GeneReviews™ [Internet]. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1427/.

Protocol ID:

220801

Variables:
Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220801_CCHS_ANSQ_Family_Atypical_Growth PX220801030000 Autonomic Nervous System Questionnaire (ANSQ) - Have any minors (under 18 years of age) in your family had atypical growth patterns? 4 N/A
PX220801_CCHS_ANSQ_Family_Genetic_Disease PX220801080000 Autonomic Nervous System Questionnaire (ANSQ) - Are there any genetic disease that run in your family? Inborn errors? 4 N/A
PX220801_CCHS_ANSQ_Family_Growth_Hormone_Problem PX220801050000 Autonomic Nervous System Questionnaire (ANSQ) - Do you or anyone in your family have growth hormone deficiency or excess? 4 N/A
PX220801_CCHS_ANSQ_Family_Height PX220801010000 Autonomic Nervous System Questionnaire (ANSQ) - Are you or any other adults (18 years of age or older) in your family Over 6-2 Or Under 4-8? 4 N/A
PX220801_CCHS_ANSQ_Family_Obesity_Diagnosis PX220801040000 Autonomic Nervous System Questionnaire (ANSQ) - Have you or anyone in your family ever been diagnosed with obesity? 4 N/A
PX220801_CCHS_ANSQ_Family_Other_Problem PX220801110000 Autonomic Nervous System Questionnaire (ANSQ) - Other 4 N/A
PX220801_CCHS_ANSQ_Family_Parkinson_Disease PX220801090000 Autonomic Nervous System Questionnaire (ANSQ) - Any history of Parkinson's disease? 4 N/A
PX220801_CCHS_ANSQ_Family_Significant_Medical_Problem PX220801060000 Autonomic Nervous System Questionnaire (ANSQ) - Do you or anyone in your family have any known significant medical problems? 4 N/A
PX220801_CCHS_ANSQ_Family_Strabismus PX220801100000 Autonomic Nervous System Questionnaire (ANSQ) - Have you ever had a wandering eye/told you have strabismus? 4 N/A
PX220801_CCHS_ANSQ_Family_Unusual_Skin_Pigmentation PX220801070000 Autonomic Nervous System Questionnaire (ANSQ) - Any unusual skin color - increase or decrease in pigmentation? 4 N/A
PX220801_CCHS_ANSQ_Family_Weight PX220801020000 Autonomic Nervous System Questionnaire (ANSQ) - Are you or any other adults (18 years of age or older) in your family Over 200 lbs or Under 90 lbs? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Asthma PX220801600100 Additional Questions - Have any members of your family tree been diagnosed with Asthma? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Depression PX220801620100 Additional Questions - Have any members of your family tree been diagnosed with Depression (any kind)? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Down_Syndrome PX220801660100 Additional Questions - Have any members of your family tree been diagnosed with Down syndrome? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Gastroesophageal_Reflux PX220801680100 Additional Questions - Have any members of your family tree been diagnosed with Gastroesophageal reflux? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Menses PX220801700100 Additional Questions - Have any members of your family tree been diagnosed with Issues related to menses? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Multiple_Sclerosis PX220801640100 Additional Questions - Have any members of your family tree been diagnosed with Multiple Sclerosis? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Obstructive_Sleep_Apnea PX220801590100 Additional Questions - Have any members of your family tree been diagnosed with Obstructive sleep apnea? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Prematurity PX220801650100 Additional Questions - Have any members of your family tree been diagnosed with Prematurity? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Seizure PX220801630100 Additional Questions - Have any members of your family tree been diagnosed with Seizure? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Snoring PX220801610100 Additional Questions - Have any members of your family tree been diagnosed with Snoring? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Stillbirths PX220801690100 Additional Questions - Have any members of your family tree been diagnosed with Stillbirths? 4 N/A
PX220801_CCHS_AQ_Family_Diagnosis_Ulcerative_Colitis PX220801670100 Additional Questions - Have any members of your family tree been diagnosed with Ulcerative colitis, Crohn's disease or Irritable bowel syndrome? 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision PX220801130100 Cardiovascular System Questions - Have you experienced episodes of blurred vision or glare in the past? 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Age PX220801130300 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Associated_Factor PX220801130500 Cardiovascular System Questions - Is the blurred vision ever associated with the following 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Diagnosis PX220801130900 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Frequency PX220801130600 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Last_Event PX220801130700 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Medical_Attention PX220801130800 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Severity PX220801130200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Blurred_Vision_Time PX220801130400 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe PX220801170100 Cardiovascular System Questions - Have you ever had really cold fingers or toes? 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Age PX220801170300 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Associated_Factor PX220801170500 Cardiovascular System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Diagnosis PX220801170900 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Frequency PX220801170600 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Last_Event PX220801170700 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Medical_Attention PX220801170800 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Severity PX220801170200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Cold_Finger_Toe_Time PX220801170400 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_CSQ_Dizziness PX220801120100 Cardiovascular System Questions - Have you experienced episodes of dizziness in the past? 4 N/A
PX220801_CCHS_CSQ_Dizziness_Age PX220801120400 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Dizziness_Aggravating_Factor PX220801120600 Cardiovascular System Questions - Are there ever any precipitating or aggravating factors: 4 N/A
PX220801_CCHS_CSQ_Dizziness_Associated_Event PX220801120700 Cardiovascular System Questions - Is the dizziness ever associated with the following 4 N/A
PX220801_CCHS_CSQ_Dizziness_Diagnosis PX220801121000 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Dizziness_Frequency PX220801120300 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Dizziness_Last_Event PX220801120800 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Dizziness_Medical_Attention PX220801120900 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Dizziness_Severity PX220801120200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Dizziness_Time PX220801120500 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_CSQ_Doctor_Diagnosis PX220801190000 Cardiovascular System Questions - Have you ever been told by a doctor that you have: 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor PX220801160100 Cardiovascular System Questions - Have you ever had facial pallor - paleness of the face associated with sweating? 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Age PX220801160300 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Associated_Factor PX220801160500 Cardiovascular System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Diagnosis PX220801160900 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Frequency PX220801160600 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Last_Event PX220801160700 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Medical_Attention PX220801160800 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Severity PX220801160200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Facial_Pallor_Time PX220801160400 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_CSQ_Headache PX220801150100 Cardiovascular System Questions - Have you experienced throbbing pounding headaches (not migraine) in the past? 4 N/A
PX220801_CCHS_CSQ_Headache_Age PX220801150400 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Headache_Associated_Factor PX220801150300 Cardiovascular System Questions - Is the headach ever associated with the following 4 N/A
PX220801_CCHS_CSQ_Headache_Associated_Other PX220801150600 Cardiovascular System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_CSQ_Headache_Diagnosis PX220801151000 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Headache_Frequency PX220801150700 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Headache_Last_Event PX220801150800 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Headache_Medical_Attention PX220801150900 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Headache_Severity PX220801150200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Headache_Time PX220801150500 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness PX220801140100 Cardiovascular System Questions - Have you experienced episodes of loss of consciousness in the past? 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Age PX220801140300 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Associated_Factor PX220801140500 Cardiovascular System Questions - Is the loss consciousness ever associated with the following 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Diagnosis PX220801140900 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Frequency PX220801140600 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Last_Event PX220801140700 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Medical_Attention PX220801140800 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Severity PX220801140200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Loss_Consciousness_Time PX220801140400 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon PX220801180100 Cardiovascular System Questions - Have you ever had Raynaud's phenomenon where your fingers go white, then blue and red? 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Age PX220801180300 Cardiovascular System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Associated_Factor PX220801180500 Cardiovascular System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Diagnosis PX220801180900 Cardiovascular System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Frequency PX220801180600 Cardiovascular System Questions - How often: 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Last_Event PX220801180700 Cardiovascular System Questions - Last event 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Medical_Attention PX220801180800 Cardiovascular System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Severity PX220801180200 Cardiovascular System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_CSQ_Raynaud_Phenomenon_Time PX220801180400 Cardiovascular System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain PX220801310100 Gastrointestinal System Questions - Have you ever had abdominal pain? Have you experienced colic as an infant? 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Age PX220801310300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Associated_Factor PX220801310500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Diagnosis PX220801310900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Frequency PX220801310600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Last_Event PX220801310700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Medical_Attention PX220801310800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Severity PX220801310200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Abdominal_Pain_Time PX220801310400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Abdominal_Surgery PX220801270100 Gastrointestinal System Questions - Have you ever had abdominal surgery? 4 N/A
PX220801_CCHS_GSQ_Abdominal_Surgery_Date PX220801270300 Gastrointestinal System Questions - date of abdominal surgery 4 N/A
PX220801_CCHS_GSQ_Abdominal_Surgery_Reason PX220801270400 Gastrointestinal System Questions - reason of abdominal surgery 4 N/A
PX220801_CCHS_GSQ_Abdominal_Surgery_Scar PX220801270200 Gastrointestinal System Questions - Have you ever had abdominal surgery? Do you have any scars on your body? 4 N/A
PX220801_CCHS_GSQ_Anorexia PX220801220100 Gastrointestinal System Questions - Have you ever had Anorexia? 4 N/A
PX220801_CCHS_GSQ_Anorexia_Age PX220801220300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Anorexia_Associated_Factor PX220801220500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Anorexia_Diagnosis PX220801220900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Anorexia_Frequency PX220801220600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Anorexia_Last_Event PX220801220700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Anorexia_Medical_Attention PX220801220800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Anorexia_Severity PX220801220200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Anorexia_Time PX220801220400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea PX220801300100 Gastrointestinal System Questions - Have you ever had (autonomic) diarrhea unrelated to a viral illness? 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Age PX220801300300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Associated_Factor PX220801300500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Diagnosis PX220801300900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Frequency PX220801300600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Last_Event PX220801300700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Medical_Attention PX220801300800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Severity PX220801300200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Autonomic_Diarrhea_Time PX220801300400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Bloating PX220801240100 Gastrointestinal System Questions - Have you ever had Persistent sense of bloating/Fullness with abdominal distension? 4 N/A
PX220801_CCHS_GSQ_Bloating_Age PX220801240300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Bloating_Associated_Factor PX220801240500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Bloating_Diagnosis PX220801240900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Bloating_Frequency PX220801240600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Bloating_Last_Event PX220801240700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Bloating_Medical_Attention PX220801240800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Bloating_Severity PX220801240200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Bloating_Time PX220801240400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing PX220801210100 Gastrointestinal System Questions - Have you ever had dysphagia - difficulty swallowing? 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Age PX220801210300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Associated_Factor PX220801210500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Diagnosis PX220801210900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Frequency PX220801210600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Last_Event PX220801210700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Medical_Attention PX220801210800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Severity PX220801210200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Dysphagia_Difficulty_Swallowing_Time PX220801210400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Early_Satiety PX220801230100 Gastrointestinal System Questions - Have you ever had Early satiety? 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Age PX220801230300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Associated_Factor PX220801230500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Diagnosis PX220801230900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Frequency PX220801230600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Last_Event PX220801230700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Medical_Attention PX220801230800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Severity PX220801230200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Early_Satiety_Time PX220801230400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea PX220801250100 Gastrointestinal System Questions - Have you ever had Frequent nausea? 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Age PX220801250300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Associated_Factor PX220801250500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Diagnosis PX220801250900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Frequency PX220801250600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Last_Event PX220801250700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Medical_Attention PX220801250800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Severity PX220801250200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Frequent_Nausea_Time PX220801250400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Hirschsprung_Disease_Diagnosis PX220801280100 Gastrointestinal System Questions - Have you ever been diagnosed or evaluated for Hirschsprung disease? 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion PX220801200100 Gastrointestinal System Questions - Have you ever had profuse oral secretions/drooling? 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Age PX220801200300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Associated_Factor PX220801200500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Diagnosis PX220801210800 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Frequency PX220801200600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Last_Event PX220801200700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Medical_Attention PX220801200800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Severity PX220801200200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Profuse_Oral_Secretion_Time PX220801200400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting PX220801260100 Gastrointestinal System Questions - Have you ever had Recurrent vomiting? 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Age PX220801260300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Associated_Factor PX220801260500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Diagnosis PX220801260900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Frequency PX220801260600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Last_Event PX220801260700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Medical_Attention PX220801260800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Severity PX220801260200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Recurrent_Vomiting_Time PX220801260400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation PX220801290100 Gastrointestinal System Questions - Have you ever had had constipation defined as inability to defecate without strenuous effort, presence of hard stools, bowel movements twice a week on average, regular use of mineral oil or other mild laxative? 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Age PX220801290300 Gastrointestinal System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Associated_Factor PX220801290500 Gastrointestinal System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Diagnosis PX220801290900 Gastrointestinal System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Frequency PX220801290600 Gastrointestinal System Questions - How often: 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Last_Event PX220801290700 Gastrointestinal System Questions - Last event 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Medical_Attention PX220801290800 Gastrointestinal System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Severity PX220801290200 Gastrointestinal System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_GSQ_Severe_Constipation_Time PX220801290400 Gastrointestinal System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_GT_PHOX2B_MLPA_Test PX220801730100 Genetic Testing - PHOX2B MLPA Test 4 N/A
PX220801_CCHS_GT_PHOX2B_Screening_Test PX220801710100 Genetic Testing - PHOX2B Screening Test 4 N/A
PX220801_CCHS_GT_PHOX2B_Sequencing_Test PX220801720100 Genetic Testing - PHOX2B Sequencing Test 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception PX220801340200 Neurologic System Questions - Have you ever had an altered perception of pain-either a high pain tolerance/not feel pain or a low pain tolerance/very sensitive to pain? 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Age PX220801340400 Neurologic System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Associated_Factor PX220801340600 Neurologic System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Diagnosis PX220801341000 Neurologic System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Frequency PX220801340700 Neurologic System Questions - How often: 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Last_Event PX220801340800 Neurologic System Questions - Last event 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Medical_Attention PX220801340900 Neurologic System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Severity PX220801340300 Neurologic System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_NSQ_Altered_Pain_Perception_Time PX220801340500 Neurologic System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone PX220801330100 Neurologic System Questions - Have you ever been told you had decreased muscle tone in your arms or legs? 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Age PX220801330300 Neurologic System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Associated_Factor PX220801330500 Neurologic System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Diagnosis PX220801330900 Neurologic System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Frequency PX220801330600 Neurologic System Questions - How often: 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Last_Event PX220801330700 Neurologic System Questions - Last event 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Medical_Attention PX220801330800 Neurologic System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Severity PX220801330200 Neurologic System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_NSQ_Decreased_Limb_Muscle_Tone_Time PX220801330400 Neurologic System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_NSQ_Migraine PX220801320100 Neurologic System Questions - Have you ever had migraine or cluster headaches? 4 N/A
PX220801_CCHS_NSQ_Migraine_Age PX220801320300 Neurologic System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_NSQ_Migraine_Associated_Factor PX220801320500 Neurologic System Questions - Is the migraine ever associated with the following 4 N/A
PX220801_CCHS_NSQ_Migraine_Diagnosis PX220801320900 Neurologic System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_NSQ_Migraine_Frequency PX220801320600 Neurologic System Questions - How often: 4 N/A
PX220801_CCHS_NSQ_Migraine_Last_Event PX220801320700 Neurologic System Questions - Last event 4 N/A
PX220801_CCHS_NSQ_Migraine_Medical_Attention PX220801320800 Neurologic System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_NSQ_Migraine_Severity PX220801320200 Neurologic System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_NSQ_Migraine_Time PX220801320400 Neurologic System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain PX220801330100 Neurologic System Questions - Have you ever had severe burning pain or causalgia of any body part? (For example - ears, fingers, toes, etc) 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Age PX220801330300 Neurologic System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Associated_Factor PX220801330500 Neurologic System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Diagnosis PX220801330900 Neurologic System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Frequency PX220801330600 Neurologic System Questions - How often: 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Last_Event PX220801330700 Neurologic System Questions - Last event 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Medical_Attention PX220801330800 Neurologic System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Severity PX220801330200 Neurologic System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_NSQ_Severe_Burning_Pain_Time PX220801330400 Neurologic System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids PX220801360100 Ocular Questions - Do you have droopy eyelids? 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Age PX220801360400 Ocular Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Associated_Factor PX220801360600 Ocular Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Diagnosis PX220801361000 Ocular Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Eye PX220801360200 Ocular Questions - which eye? 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Frequency PX220801360700 Ocular Questions - How often: 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Last_Event PX220801360800 Ocular Questions - Last event 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Medical_Attention PX220801360900 Ocular Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Severity PX220801360300 Ocular Questions - How severe is this problem? 4 N/A
PX220801_CCHS_OQ_Droopy_Eyelids_Time PX220801360500 Ocular Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_OQ_Respond_To_Light PX220801370100 Ocular Questions - Were you told that your eyes do not respond well to light? 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Age PX220801370400 Ocular Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Associated_Factor PX220801370600 Ocular Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Diagnosis PX220801371000 Ocular Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Eye PX220801370200 Ocular Questions - which eye? 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Frequency PX220801370700 Ocular Questions - How often: 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Last_Event PX220801370800 Ocular Questions - Last event 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Medical_Attention PX220801370900 Ocular Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Severity PX220801370300 Ocular Questions - How severe is this problem? 4 N/A
PX220801_CCHS_OQ_Respond_To_Light_Time PX220801370500 Ocular Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_OQ_Tearing_Problem PX220801390100 Ocular Questions - Have you had problems with tearing? 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Age PX220801390300 Ocular Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Associated_Factor PX220801390500 Ocular Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Diagnosis PX220801390900 Ocular Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Frequency PX220801390600 Ocular Questions - How often: 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Last_Event PX220801390700 Ocular Questions - Last event 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Medical_Attention PX220801390800 Ocular Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Severity PX220801390200 Ocular Questions - How severe is this problem? 4 N/A
PX220801_CCHS_OQ_Tearing_Problem_Time PX220801390400 Ocular Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils PX220801380100 Ocular Questions - Do you have tightly constricted pupils? 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Age PX220801380400 Ocular Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Associated_Factor PX220801380600 Ocular Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Diagnosis PX220801381000 Ocular Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Eye PX220801380200 Ocular Questions - which eye? 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Frequency PX220801380700 Ocular Questions - How often: 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Last_Event PX220801380800 Ocular Questions - Last event 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Medical_Attention PX220801380900 Ocular Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Severity PX220801380300 Ocular Questions - How severe is this problem? 4 N/A
PX220801_CCHS_OQ_Tightly_Constricted_Pupils_Time PX220801380500 Ocular Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils PX220801350100 Ocular Questions - Do you have unequal pupils? 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Age PX220801350300 Ocular Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Associated_Factor PX220801350500 Ocular Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Diagnosis PX220801350900 Ocular Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Frequency PX220801350600 Ocular Questions - How often: 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Last_Event PX220801350700 Ocular Questions - Last event 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Medical_Attention PX220801350800 Ocular Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Severity PX220801350200 Ocular Questions - How severe is this problem? 4 N/A
PX220801_CCHS_OQ_Unequal_Pupils_Time PX220801350400 Ocular Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble PX220801400100 Ocular Questions - Have you ever had trouble with your vision accommodating or converging, i.e. fixing your gaze from far to near? 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Age PX220801400300 Ocular Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Associated_Factor PX220801400500 Ocular Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Diagnosis PX220801400900 Ocular Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Frequency PX220801400600 Ocular Questions - How often: 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Last_Event PX220801400700 Ocular Questions - Last event 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Medical_Attention PX220801400800 Ocular Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Severity PX220801400200 Ocular Questions - How severe is this problem? 4 N/A
PX220801_CCHS_OQ_Vision_Accommodating_Trouble_Time PX220801400400 Ocular Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_POCT_72-hour_Holter PX220801810100 Physiologic and other clinical testing - 72-hour Holter recording annually to evaluate for cardiac sinus pauses 4 N/A
PX220801_CCHS_POCT_Autonomic_Testing PX220801850100 Physiologic and other clinical testing - Age and symptom-specific autonomic testing 4 N/A
PX220801_CCHS_POCT_Chest_Abdomen_Movement PX220801750100 Physiologic and other clinical testing - Movement (respiratory inductance plethysmography) of the chest and abdomen 4 N/A
PX220801_CCHS_POCT_ECG PX220801790100 Physiologic and other clinical testing - ECG 4 N/A
PX220801_CCHS_POCT_End_Tidal_Carbon_Dioxide PX220801780100 Physiologic and other clinical testing - End tidal carbon dioxide with visible breath-to-breath measures 4 N/A
PX220801_CCHS_POCT_Exogenous_Endogenous_Ventilatory_Challenges PX220801800100 Physiologic and other clinical testing - Exogenous and endogenous ventilatory challenges in response to hypoxemia and hypercarbia (awake and asleep) 4 N/A
PX220801_CCHS_POCT_Hemoglobin_Saturation PX220801770100 Physiologic and other clinical testing - Hemoglobin saturation with visible pulse waveform and beat-to-beat measures 4 N/A
PX220801_CCHS_POCT_Hirschsprung_Disease PX220801840100 Physiologic and other clinical testing - Evaluation for Hirschsprung disease 4 N/A
PX220801_CCHS_POCT_Neural_Crest_Tumors PX220801830100 Physiologic and other clinical testing - Evaluation for tumors of neural crest origin if PHOX2B genotype 20/28-20/33 or NPARM 4 N/A
PX220801_CCHS_POCT_Neurocognitive_Testing PX220801820100 Physiologic and other clinical testing - Neurocognitive testing 4 N/A
PX220801_CCHS_POCT_Respiratory_Frequencye PX220801760100 Physiologic and other clinical testing - Respiratory frequency 4 N/A
PX220801_CCHS_POCT_Tidal_Volume PX220801740100 Physiologic and other clinical testing - Tidal volume (pneumotachograph) measurement 4 N/A
PX220801_CCHS_PSQ_Anxiety PX220801410100 Psychological System Questions - Have you had problems with anxiety? 4 N/A
PX220801_CCHS_PSQ_Anxiety_Age PX220801410300 Psychological System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_PSQ_Anxiety_Associated_Factor PX220801410500 Psychological System Questions - Associated with any other symptoms 4 N/A
PX220801_CCHS_PSQ_Anxiety_Diagnosis PX220801410900 Psychological System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_PSQ_Anxiety_Frequency PX220801410600 Psychological System Questions - How often: 4 N/A
PX220801_CCHS_PSQ_Anxiety_Last_Event PX220801410700 Psychological System Questions - Last event 4 N/A
PX220801_CCHS_PSQ_Anxiety_Medical_Attention PX220801410800 Psychological System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_PSQ_Anxiety_Severity PX220801410200 Psychological System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_PSQ_Anxiety_Time PX220801410400 Psychological System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_PSQ_Eye_Contact_Problem PX220801430200 Psychological System Questions - Have you ever had problems making eye contact? 4 N/A
PX220801_CCHS_PSQ_Learning_Disability PX220801420100 Psychological System Questions - Have you ever been diagnosed as having a learning disability, either verbal or non-verbal? 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Age PX220801420300 Psychological System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Associated_Other PX220801420500 Psychological System Questions - Is the learning disability ever associated with other factor 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Diagnosis PX220801420800 Psychological System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Frequency PX220801420600 Psychological System Questions - How often: 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Medical_Attention PX220801420700 Psychological System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Medication PX220801420900 Psychological System Questions - Was medication such as ritalin? prozac? caffeine? ever prescribed? 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Severity PX220801420200 Psychological System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_PSQ_Learning_Disability_Time PX220801420400 Psychological System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_PSQ_Recognizing_Social_Cues PX220801430100 Psychological System Questions - Have you had problems with recognizing social cues ? 4 N/A
PX220801_CCHS_PSQ_Recognizing_Social_Cues_Comprehend PX220801430300 Psychological System Questions - Do you comprehend facial expression, body language, gesture, and tone of voice? 4 N/A
PX220801_CCHS_PSQ_Recognizing_Social_Cues_Inability PX220801430400 Psychological System Questions - Do you have social interests but lack the ability to initiate and maintain social relationships? 4 N/A
PX220801_CCHS_RSQ_Home_Monitor PX220801570100 Respiratory System Questions - Has anyone in the family been on a home monitor? As an infant, child, or adult? 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido PX220801480100 Reproductive System Questions - - Have you had problems with loss of libido? 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Age PX220801480300 Reproductive System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Associated_Other PX220801480500 Reproductive System Questions - Is the loss of libido ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Diagnosis PX220801480900 Reproductive System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Frequency PX220801480600 Reproductive System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Last_Event PX220801480700 Reproductive System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Medical_Attention PX220801480800 Reproductive System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Severity PX220801480200 Reproductive System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Loss_Of_Libido_Time PX220801480400 Reproductive System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation PX220801540100 Respiratory System Questions - Have you ever been given a diagnosis of alveolar hypoventilation? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Age PX220801540300 Respiratory System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Associated_Other PX220801540500 Respiratory System Questions - Is the problems with alveolar hypoventilation ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Diagnosis PX220801540900 Respiratory System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Frequency PX220801540600 Respiratory System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Last_Event PX220801540700 Respiratory System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Medical_Attention PX220801540800 Respiratory System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Severity PX220801540200 Respiratory System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Alveolar_Hypoventilation_Time PX220801540400 Respiratory System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea PX220801530100 Respiratory System Questions - Have you ever had problems with apnea or an apparent life threatening event? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Age PX220801530300 Respiratory System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Associated_Other PX220801530500 Respiratory System Questions - Is the problems with apnea ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Diagnosis PX220801530900 Respiratory System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Frequency PX220801530600 Respiratory System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Last_Event PX220801530700 Respiratory System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Medical_Attention PX220801530800 Respiratory System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Severity PX220801530200 Respiratory System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Apnea_Time PX220801530400 Respiratory System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells PX220801550100 Respiratory System Questions - Have you ever had problems with breath holding spells? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Age PX220801550300 Respiratory System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Associated_Other PX220801550500 Respiratory System Questions - Is the problems with breath holding spells ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Diagnosis PX220801550900 Respiratory System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Frequency PX220801550600 Respiratory System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Last_Event PX220801550700 Respiratory System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Medical_Attention PX220801550800 Respiratory System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Severity PX220801550200 Respiratory System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Breath_Holding_Spells_Time PX220801550400 Respiratory System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection PX220801490100 Reproductive System Questions - Have you had problems with erection? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Age PX220801490300 Reproductive System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Associated_Other PX220801490500 Reproductive System Questions - Is the problems with erection ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Diagnosis PX220801490900 Reproductive System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Frequency PX220801490600 Reproductive System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Last_Event PX220801490700 Reproductive System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Medical_Attention PX220801490800 Reproductive System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Severity PX220801490200 Reproductive System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Erection_Time PX220801490400 Reproductive System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism PX220801500100 Reproductive System Questions - Have you had problems with priapism? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Age PX220801500300 Reproductive System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Associated_Other PX220801500500 Reproductive System Questions - Is the problems with priapism ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Diagnosis PX220801500900 Reproductive System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Frequency PX220801500600 Reproductive System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Last_Event PX220801500700 Reproductive System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Medical_Attention PX220801500800 Reproductive System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Severity PX220801500200 Reproductive System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Priapism_Time PX220801500400 Reproductive System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh PX220801520100 Respiratory System Questions - Do you notice or have you been told that you either sigh a lot or do not sigh at all? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Age PX220801520300 Respiratory System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Associated_Other PX220801520500 Respiratory System Questions - Is the problems with sigh ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Diagnosis PX220801520900 Respiratory System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Frequency PX220801520600 Respiratory System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Last_Event PX220801520700 Respiratory System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Medical_Attention PX220801520800 Respiratory System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Severity PX220801520200 Respiratory System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Sigh_Time PX220801520400 Respiratory System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor PX220801510100 Respiratory System Questions - Have you had problems with stridor? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Age PX220801510300 Respiratory System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Associated_Other PX220801510500 Respiratory System Questions - Is the problems with stridor ever associated with other factor 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Diagnosis PX220801510900 Respiratory System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Frequency PX220801510600 Respiratory System Questions - How often: 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Last_Event PX220801510700 Respiratory System Questions - Last event 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Medical_Attention PX220801510800 Respiratory System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Severity PX220801510200 Respiratory System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RSQ_Problems_With_Stridor_Time PX220801510400 Respiratory System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RSQ_SIDS_Death PX220801560100 Respiratory System Questions - Has there ever been a SIDS death in your family? 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination PX220801450100 Renal and Urinary System Questions - Have you had problems with frequent urination? 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Age PX220801450300 Renal and Urinary System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Associated_Other PX220801450500 Renal and Urinary System Questions - Is the frequent urination ever associated with other factor 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Diagnosis PX220801450900 Renal and Urinary System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Frequency PX220801450600 Renal and Urinary System Questions - How often: 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Last_Event PX220801450700 Renal and Urinary System Questions - Last event 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Medical_Attention PX220801450800 Renal and Urinary System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Severity PX220801450200 Renal and Urinary System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RUSQ_Frequent_Urination_Time PX220801450400 Renal and Urinary System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine PX220801440100 Renal and Urinary System Questions - Have you ever had problems with retaining your urine or incomplete emptying of your bladder? 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Age PX220801440300 Renal and Urinary System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Associated_Other PX220801440500 Renal and Urinary System Questions - Is the retaining urine ever associated with other factor 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Diagnosis PX220801440900 Renal and Urinary System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Frequency PX220801440600 Renal and Urinary System Questions - How often: 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Last_Event PX220801440700 Renal and Urinary System Questions - Last event 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Medical_Attention PX220801440800 Renal and Urinary System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Severity PX220801440200 Renal and Urinary System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RUSQ_Retaining_Urine_Time PX220801440400 Renal and Urinary System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate PX220801460100 Renal and Urinary System Questions - Have you had problems with urgency to urinate? 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Age PX220801460300 Renal and Urinary System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Associated_Other PX220801460500 Renal and Urinary System Questions - Is the urgency to urinate ever associated with other factor 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Diagnosis PX220801460900 Renal and Urinary System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Frequency PX220801460600 Renal and Urinary System Questions - How often: 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Last_Event PX220801460700 Renal and Urinary System Questions - Last event 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Medical_Attention PX220801460800 Renal and Urinary System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Severity PX220801460200 Renal and Urinary System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RUSQ_Urgency_To_Urinate_Time PX220801460400 Renal and Urinary System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence PX220801470100 Renal and Urinary System Questions - Have you had problems with urinary incontinence? 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Age PX220801470300 Renal and Urinary System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Associated_Other PX220801470500 Renal and Urinary System Questions - Is the urinary incontinence ever associated with other factor 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Diagnosis PX220801470900 Renal and Urinary System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Frequency PX220801470600 Renal and Urinary System Questions - How often: 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Last_Event PX220801470700 Renal and Urinary System Questions - Last event 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Medical_Attention PX220801470800 Renal and Urinary System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Severity PX220801470200 Renal and Urinary System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_RUSQ_Urinary_Incontinence_Time PX220801470400 Renal and Urinary System Questions - When do symptoms occur: 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating PX220801580100 Sudomotor System Questions - Have you ever had problems with difficulty sweating? 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Age PX220801580300 Sudomotor System Questions - Age at onset of symptoms 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Associated_Other PX220801580500 Sudomotor System Questions - Is the problems with difficulty sweating ever associated with other factor 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Diagnosis PX220801580900 Sudomotor System Questions - If yes, was a diagnosis made? 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Frequency PX220801580600 Sudomotor System Questions - How often: 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Last_Event PX220801580700 Sudomotor System Questions - Last event 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Medical_Attention PX220801580800 Sudomotor System Questions - Did you seek medical attention for these events? 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Severity PX220801580200 Sudomotor System Questions - How severe is this problem? 4 N/A
PX220801_CCHS_SSQ_Problems_With_Difficulty_Sweating_Time PX220801580400 Sudomotor System Questions - When do symptoms occur: 4 N/A
Research Domain Information
Measure Name:

Disorders of Respiratory Control with Inherent Autonomic Dysregulation

Release Date:

April 30, 2015

Definition

The measure is used to assess dysregulation of the autonomic nervous system and whether the individual may have characteristic autonomic dysregulation as anticipated in congenital central hypoventilation syndrome (CCHS).

Purpose

Congenital central hypoventilation syndrome (CCHS) represents the extreme end of a spectrum of autonomic nervous system dysregulation, characterized by hypoventilation during sleep (and, in more severe cases, during wakefulness and sleep), with markedly diminished or absent ventilatory responses to hypoxia/hypercarbia, coupled with signs of autonomic dysfunction.

Keywords

Pulmonary, respiratory control, congenital central hypoventilation syndrome, CCHS, paired-like homeobox gene, PHOX2B gene, autonomic nervous system dysfunction, ANSD, pediatric, birth, autonomic dysregulation, breathing, genetic, Autonomic Nervous System Questionnaire, ANSQ