Skeletal Dysplasia Program

ANESTHESIA PRECAUTIONS

The following information is written in medical terminology and is intended for the surgeons and anesthesiologists that work on patients with skeletal dysplasias. Patients and family should consider printing out this information for their surgeons and/or anesthesiologists prior to surgery so that these doctors can be aware of the precautions that should be taken in individuals with skeletal dysplasias.

 Potential risk factors with anesthesia:

• Difficulty with laryngeal visualization
  - Redundant soft tissue is common
  - Decreased flexion
• Problems with airway management due to: facial anomalies, small airway, short neck, upper airway muscle hypotonia, midface hypoplasia, redundant soft tissue, large tongue, large tonsils and adenoids, thickened pharyngeal and laryngeal structures, narrowed nasal passages, micrognathia, laryngomalacia, pharyngeal hypoplasia, sternal prominence
• Risk of cervicomedullary compression with neck hyperextension or uncontrolled head movement
  - Individuals with skeletal dysplasias may have a tight foramen magnum, cervical spine stenosis, odontoid hypoplasia resulting in atlanto-axial instability
  - Over extension or flexion can lead to quadriplegia, parasthesia, paraplegia and death
• Difficulty with ventilation because of restrictive lung disease, small rib cage, obesity, or, abnormal spinal curve
• At risk for sleep apnea with central, obstructive or mixed components
• Coincidental chronic pulmonary diseases (pneumonia, asthma, chronic aspiration, etc.)
• Difficulty with selection of an appropriate endotracheal tube size
• Difficulty with positioning on armboards due to decreased elbow extension

Recommendations and considerations for anesthesia:

• Use cervical spine films (unforced lateral flexion and extension) and MRI films (if previously done) to assess the airway and for potential compression and/or instability
• Know patient's neurological history. Get a neurological evaluation if patient has not had one recently or records not available
• Have child assessed for sleep apnea prior to surgery (if child has symptoms)
• Pre-op assessment of airway to anticipate need for alternative techniques (i.e., blind nasal, flexible fiberoptic or retrograde intubations). Examination should include: position of larynx, shortness of neck, mobility of neck and jaw.
• Review charts for anesthesia records in order to find more information about airway management and any complications/difficulties previously experienced.
• Avoid intubation in sitting positions (has been shown to have increased risk for complications)
• Consider cervical spine/head stabilization during procedure to avoid uncontrolled movement
• Use appropriately sized blood pressure cuff for monitoring
• Intubate without forced neck hyperextension
• Use direct bronchoscopic visualization
• Use weight instead of age as predictor of endotracheal tube size, however be prepared to go smaller (have pediatric tubes available for adults)
• Judge amounts of drugs on body weight, not height or age
• Consider pre-oxygenation
• Time post-operative extubation to be longer due to diminished lung volumes
• Monitor somatosensory evoked potentials to have warning signs of spinal cord compression

Note: sometimes patients with achondroplasia, Morquio syndrome and metatropic dysplasia maintain a patent airway with neck extended, so flexion can actually cause obstruction.

Dwarfs: Pathophysiology and Anesthetic Implications:  This is an article explaining more about precautions for anesthesia in people with skeletal dysplasias. You will need Acrobat Reader to access pdf articles.

PHYSICAL ACTIVITY PRECAUTIONS

*Note: Since each individual is different, please consult your health-care specialist before beginning any exercise program or sport participation in order to ensure that the activity/activities are appropriate for your particular situation.

Although individuals will vary in ability based on their particular medical diagnosis, healthy forms of exercise are not only acceptable, but are highly recommended. Just as for the general population, exercise is an important aspect of health maintenance for people with skeletal dysplasias. Exercise strengthens muscles and bones, improves digestion and cardiovascular fitness, lowers stress levels, and helps with weight management. However, before embarking on an exercise program or developing a physical education curriculum, certain precautions and adaptations need to be considered.

First, there is the issue of safety. People with skeletal dysplasias need to pay particular attention to the stress placed on their joints and spine because they may be susceptible to injuries in these areas. Therefore, activities that involve jarring movements or heavy weight bearing should usually be avoided or at least approached with caution. A list of categories (high, moderate, and low risk) appears below. As you can see, categorizing activities is not always straightforward. So much depends on the circumstances of the situation: health status of the individual, level of competition involved, personal training, and even the skill level of the other participants. If there is any question at all, it is best to consult with a physician who is knowledgeable about your personal health history and your specific type of dwarfism. You should discuss not only the activity itself, but the way in which you would like to participate (e.g., frequency, duration, level of seriousness, level of training, any professional involvement, etc.). Ask the doctor for recommendations about any precautions you should take, modifications you might make, or extra training needed. By and large, almost any activity without a high level of impact, done in moderation, will be okay. It is important not to impose unnecessary limitations.

Categories of Risk Levels for Activities:

High-Risk Activities: boxing, bungee-jumping, cross-country/long-distance running, field events (high jump, pole vault), football (tackle), gymnastics (e.g., head-stands, un-parallel bars, flips, etc.), hang-gliding, hockey (ice), lacrosse, martial arts, racing (track, cross-country, race-walking), rodeo, rugby, skateboarding, sky-diving, surfing (body or board), team handball, trampoline, water polo, water skiing, and wrestling.
Note: Activities were chosen for this section due to excessive joint strain, jarring movements, heavy weight bearing, and/or potential for head injuries.

Moderate-Risk Activities: baseball, basketball, bicycling, bodybuilding, cheerleading, canoeing/kayaking (white water), crew/rowing, diving, equestrian, fencing, field events (javelin, discus, shotput), football (flag), Frisbee (ultimate), gymnastics (e.g., somersaults, balance beam, parallel bars, etc.), handball (team), hockey (field or floor), jumping rope, power/weight lifting, racquetball, skating (ice, incline, roller), skiing (downhill or cross-country), snowboarding, soccer (no "heading"), softball, squash, tennis, volleyball, and windsurfing.
Note: Activities were chosen for this section assuming the participant uses any and all protective equipment available, receives adequate training, and uses common sense (e.g., responds to any dangerous conditions, does not become overly competitive or aggressive, and knows when to stop).

Low-Risk Activities (e.g., nothing in life is risk-free, but the following sports tend to be less of a strain on joints and have a low risk for jarring movements): archery, badminton, boccia, bowling, canoeing/kayaking (flat water), frisbee, golf, handball (singles), orienteering, riflery, sailing, scuba diving, swimming, table tennis, tai chi, T-ball, and walking.
Note: Activities were chosen for this section using the same guidelines as for Moderate-Risk Activities.

The activities listed above in the High-Risk and Moderate-Risk sections are not contraindicated for every person with dwarfism. Many of the activities listed in the Moderate-Risk category are included in the sports competitions of the Dwarf Athletic Association of America (DAAA). The DAAA requires that all individuals be evaluated and cleared by a physician before participating in any competition. We would recommend the same precaution.

Although safety is important, standards and expectations also need to be considered when people with skeletal dysplasias participate in physical activity and sports. This is particularly true for children. For instance, although dwarf children without any unusual orthopedic problems can engage in many sports activities, their size and ability should be taken into account when establishing benchmarks for performance. They should be encouraged to participate to the best of their ability, using their own past achievements as a measure of progress. Adults working with dwarf children should also consider ways of adapting the game or equipment to help make full participation possible. Most importantly, as for all those taking part in physical activities, enjoyment, teamwork, camaraderie, and sportsmanship should be stressed above that of competition and individual skill.

Summary of Skeletal Dysplasia Clinic Physical Activity Recommendations:

1. Use common sense.

2. Consult with a physician if you have any questions about risk (e.g., before participating in any of the activities in the High to Moderate Risk categories).

3. Use any and all safety equipment available for the particular sport (e.g., helmets, pads, appropriate shoes, etc.).

4. When trying an unfamiliar activity, consult with a trained professional to ensure proper form and to avoid unnecessary injuries.

5. Anyone susceptible to neck injuries should have their cervical spine stability evaluated (by x-ray and clinical exam) every 2-3 years while participating in sporting activities. Conditions predisposed to neck injury include, but are not limited to: cartilage hair hypoplasia, diastrophic dysplasia, Morquio syndrome, pseudoachondroplasia, and spondyloepiphyseal dysplasia.

6. Have fun!!!!!

SELF-ESTEEM 

Adapting A Tall World to Fit A Short Person
In addition to the medical issues discussed above, it is important that individuals with skeletal dysplasias are able to function in a world made for taller people. There are many everyday activities that people of average stature take for granted. For instance, participation in household, school, and social activities are examples of activities that may all be significantly more difficult for someone with a skeletal dysplasia. Sometimes it is just a matter of things taking longer to accomplish, but other times there are physical obstacles that must be overcome. Examples of modifications that may be required include adapting chairs to have adequate foot and back support, footstools and extenders for reaching, an extra set of books at home so the backpack is not too heavy, and allotting extra time to get to class.

Teasing & Bullying
Although functional and medical issues can present difficulties, often the greatest challenges are the social and emotional concerns. Being short-statured and/or orthopedically disabled carries great stigma in most societies. It is important that people with skeletal dysplasias and their families mentally and emotionally prepare themselves for the teasing, staring, and ignorance they may face and to learn coping mechanisms and reactions to these behaviors. Little People of America (LPA) is the support organization for all people of short stature and their families. This organization can be extremely helpful in assisting with social adjustment and, more than anything else, letting people with short stature know that they are not alone in their circumstances. However, teasing and bullying are also wide-spread among the general population and listed below are some general links dealing with this topic. We strongly encourage you not to simply ignore it, especially in arenas where there is some practical recourse (both socially and legally), such as school and the workplace.

Last reviewed: May 2020
Reviewed by: Ericka Okenfuss, MS, LCGC