Children with achondroplasia will develop head control, sitting, crawling, and walking at older ages than their peers, which is to be expected. Given the differences in body proportions, it is inappropriate to use the developmental charts of a typical child to assess a child with achondroplasia. There are specialized developmental charts for children with achondroplasia, and it is critical that these be used.6
We believe physical therapy should be reserved for individuals with true gross motor delays based on expectations for a child with achondroplasia, after common causes have been ruled out. If a child has gross motor delays in infancy, we recommend first evaluating for critical foramen magnum stenosis, so that the problem can be treated instead of the symptoms. Exercises/positioning designed for a typical child to catch up to a typical timeline can increase the risk for cord compression related to foramen magnum stenosis, and/or increased the likelihood of a fixed TLK.
Extreme care should be taken in the position and handling of infants to minimize sudden abrupt head and neck motion due to the smaller foramen magnum. When children get older, activities should be avoided that put them at risk for neck injuries, such as contact sports, high diving, gymnastics, tumbling, and trampolines.
Diminishing motor milestones, decreased endurance, apnea, or any neurological symptoms should be evaluated by an experienced medical provider.
To avoid a fixed TLK, proper back support should be provided for every child in infancy, including reclined seating and no “hammock-style” backs, until the child has the strength to sit on their own. Also recommend avoiding soft-backed swings, umbrella strollers, and jumpers. Backpack carriers and front sling/carriers should not be used until the child gains complete and total head and trunk control.
Properly installed rear-facing car seats with neck support when traveling in a car are important safety measures. The car seat should remain rearward facing until the child is at least 20 pounds or the weight requirement of your state, whichever is higher.
Head size should be monitored carefully at least every three to six months in the first few years of life. We believe that the parents should become comfortable with feeling the anterior fontanelle or soft spot located on top of the infant’s skull about once a week. The fontanelle should be soft and flat. If the fontanelle becomes hard (like a tabletop) or bulging when the child is healthy and at rest, then this should be brought to immediate medical attention as it could be a sign of increased pressure on the brain in infancy.
Speech delay may indicate underlying conductive hearing loss, so hearing should be assessed in addition to seeking speech therapy. Ears should also be assessed after each ear infection to make sure fluid has drained.
Sleep disturbance such as chronic snoring and/or long witnessed pauses may indicate obstructive sleep apnea or central sleep apnea from cord compression and should be brought to an experienced medical provider’s attention. There is a risk for obstructive sleep apnea both as a child and as an adult.
Overall, we also recommend you talk about achondroplasia — both with your child and others — as a difference rather than a problem. Your attitude can help your child develop good self-esteem. Treat the child according to age and not size and encourage others to do the same. Also, find ways to adapt. For example, get a light switch extender and a stepstool so your child can turn the lights on and off and get to the sink independently to wash their hands. Encourage your child’s school to make modifications/accommodations for your child to maximize their independence in an age-appropriate way. Get involved with groups like the Little People of America. Getting to know other people with achondroplasia and other forms of dwarfism can help your child feel connected.