A pediatric resident was called to see an 6-year-old male in the emergency room, in a general community hospital where the residents worked on a small pediatric inpatient ward.
The emergency medicine staff physician said the child was known to have familial dysautonomia and was vomiting with labile blood pressures.
The surprised and worried resident told the staff physician that she didn’t know anything about this problem but would be there as soon as possible.
The staff physician replied, “Oh, don’t worry, he comes in every so often and we just follow the laminated protocol his parents bring.”In the emergency room, the resident obtained the history that the child was in his normal state of health when his parents told him that they were would be flying the following day. He did not like to fly and became extremely upset and began vomiting.
His parents were not able to calm him down and had given him some diazepam to try to abort the episode. This did not work and they came to the emergency room.
There was no history of any symptoms of an infectious nature, possible ingestion or other similar provoking cause.
The pertinent physical exam showed a child who was crying as an IV was being placed. Monitors showed his blood pressure to be swinging between normal and hypertensive.
His heart rate was in the 140-190s and was labile. His temperature was 38.4° C. Height and weight were 3-10% for age.
He had retching and had copious salivation and sweating. His skin had diffuse 0.5-1.0 areas of flaring without wheals.
Neurological examination revealed an agitated child who had some rocking motions of his head, and repetition of words, with some generalized hypotonia.
There was no evidence of localized infection.
The diagnosis of familial dysautonomia in dysautonomic crisis was made. Blood work was drawn with the IV placement and he was given IV diazepam and fluids.
He was taken to a private room within the emergency room where it was quieter and the lights could be dimmed.
Slowly over the next 2-3 hours he had fewer retching spells and became less agitated. His blood pressure became less volatile but mean pressures were still elevated.
His local physician was contacted and agreed that he could be admitted locally as his crisis seemed to be improving with the sedation and he didn’t want to upset the child by transporting him to another institution.
His specialist in another city was also contacted who also agreed that overall the best option was to admit him locally and try to keep him calm, but to transport if he became worse.
The child was moved to the pediatric floor and as it was late evening he fell asleep. Over the night his IVF and output were monitored.
He had some spitting up and brief awakenings over the night, but in the morning most of his symptoms had resolved.
He complained of some mild stomach pain, but was able to eat and drink. After talking with his specialist again by telephone it was decided to discharge him home to be monitored closely by the parents.
His local physician agreed and as he lived close to the family said he would check on the patient at home to try to avoid precipitating another dysautonomic crisis.
Familial dysautonomia was previously known as Riley-Day syndrome and classified as hereditary sensory autonomic neuropathy type III. It is caused by mutations on chromosome 9 and affects the sensory and autonomic nervous systems.
It is an autosomal recessive disorder with a high carrier frequency in people of eastern European, Jewish ancestry. DNA testing is available.
Clinical neurological manifestations vary and affect almost every organ system. Some manifestations include
abnormal pain and temperature regulation, cardiovascular lability, hypotonia, poor coordination and balance, attention and learning problems, dysphagia, absent tears, and dysautonomic crisis.
Individual patients may have normal or above normal intelligence, but as a group, patients with familial dysautonomia are skewed to toward lower IQ scores.
Dysautonomic crisis can be precipitated by many causes including acute illness or emotional reactions such as the patient above.
It is thought to be caused by misfiring of central autonomic neurons. The symptoms include retching/emesis, hypertension, tachycardia, diaphoresis, excessive salivation, skin blotching and piloerection, pupil dilatation and functional ileus.
Treatment includes adequate hydration, stopping the crisis symptoms of retching and hypertension, and treatment of the precipitating cause.
Fluids should be given to treat dehydration and maintain hydration. Hydration is best monitored by weight and BUN because usual assessment such as mucous membranes and urine output are not accurate in these patients.
Diazepam is a fast-acting benzodiazepine that helps to calm the central autonomic nervous system. It can be given every 2-4 hours.
Treatment of the underlying problem such as an infection or emotional problem is also necessary.
Children with special health care needs (CSHCN) should have a health care plan (HCP) developed that addresses the medical issues in the settings where the child lives, goes to school, works, recreates and travel.
Obviously the HCP is individualized and maybe relatively simple (i.e. instructions for administration of asthma medication for a child with intermittent asthma) or complex (i.e. a patient with familial dysautonomia).
The HCP should be developed, implemented and periodically reviewed by the patient (if appropriate), the parents and family members, healthcare professionals caring for the patient, school personnel, local emergency medical services, local emergency room personnel, pharmacist and other individuals.
In order to ensure currency, a date and signature by the parent, healthcare provider, and other appropriate personnel should be at the beginning or end of the plan.
Elements to consider having in a HCP include:
- Date the HCP was put into place
- Patient name, date of birth
- Language spoken
- Parent and/or legal guardian name, relationship to patient, home address, work address, telephone numbers and email addresses
- Persons who can give consent
- Other people who may give or receive information – home health care providers, nursing staff, social worker, teachers, child care provider, pharmacists, others
- Brief/pertinent description of current health problems including:
- Description of baseline status –
- Overall description – i.e. non-communicative, ambulatory, mottled etc.
- Base vital signs and physical findings
- To medication, foods, insects, etc. and what happens when this occurs
- Immunization status – including dates, tuberculosis status
- Current medication list
- Drug name, strength, dose and frequency and time given – a log may be needed to record the medications, especially if initiating or discontinuing a medication for better monitoring
- Medical equipment
- Daily equipment used – name of home health care company and contact information, maintenance record, where stored
- Emergency equipment available – home health care company, maintenance record, where stored
- Current treatments/procedures needed
- Type of procedure, who performs the procedure (patient or another person), frequency, positioning of patient during procedure, suggested venue for procedure, patient-specific techniques, any special precautions
- Transportation needs including car seat
- Description of baseline status –
- Brief/pertinent description of past health problems including dates and treatment of:
- Childhood illnesses
- Emergency plan
- Emergency contact numbers for fire, police, ambulance, gas company, electric company, home health care company, pharmacist etc.
- Preferred hospital name and contact information
- Local emergency room name and contact information (consider giving a copy of the HCP to local emergency medical services and the local emergency room)
- Primary care physician name and contact information
- Specialist physicians name and contact information
- Dentist name and contact information
- Other health care professionals name and contact information
- List of who should be contacted for every emergency
- Emergency consent for treatment including current insurance information
- Telephone protocol – detailed information about how to contact and give information to emergency personnel by telephone
- Anticipating possible problems and specific emergencies
- A list of “XXX problem may arise for YYY reason and ZZZ is what should be done for it”
- A list of “If you see XXX, you should do YYY”
- List of trained care providers (especially for child care and school settings) – primary and backup staff name, type training done, date
- Any other information that is important to convey
Families may wish to use paper copies of the HCP which can be distributed to appropriate persons and also kept with the child in a backpack, at school or child care facility, at a home frequently visited, etc.
Online personal health records are another way to ensure that current information about a child is available to those who need it when they need it.
Another alternative is inexpensive magnetic media such as CD-ROMs or computer memory sticks.
There are pros and cons to each recording method so it may be best to use more than one (i.e. paper print out of an online personal health record).
The date the HCP was put into place should be documented so the most current version can be easily identified if two HCPs are presented.
The American Academy of Pediatrics has a sample emergency information form (see To Learn More Below) but this is not a complete HCP and may not be suitable for other venues.
Questions for Further Discussion
1. Think about a specific CSHCN. What type of information would you put into the HCP?
2. Think about a specific CSHCN. What type of information would you want if you were the treating physician in the emergency room when this child is having an emergency?
- Familial Dysautonomia
Autonomic Nervous System Disorders
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Information prescriptions for patients can be found at MedlinePlus for this topic: Autonomic Nervous System Disorders and Neurologic Diseases.
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
Haynie M, Porter SM, Palfrey JS. Children Assisted by Medical Technology in Educational Settings: Guidelines for Care. Project School Care, The Children’s Hospital, Boston, MA 1989;21-32.
American Academy of Pediatrics Policy Statement.
Emergency Preparedness for Children With Special Health Care Needs.
Pediatrics 1999 104: e53. Available from the Internet at: http://aappolicy.aappublications.org/cgi/content/full/pediatrics;104/4/e53 (rev. 10/99, cited 2/1/08).
Gold-von Simson G, Axelrod FB. Familial dysautonomia: update and recent advances.
Curr Probl Pediatr Adolesc Health Care. 2006 Jul;36(6):218-37.
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients’ is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
5. Patients and their families are counseled and educated.
6. Information technology to support patient care decisions and patient education is used.
7. All medical and invasive procedures considered essential for the area of practice are competently performed.
8. Health care services aimed at preventing health problems or maintaining health are provided.
9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
19. The health professional works effectively with others as a member or leader of a health care team or other professional group.
22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.
25. Quality patient care and assisting patients in dealing with system complexities is advocated.
26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital
March 10, 2008