Sunday, June 17, 2012

Importance of Early Diagnosis and Treatment of Infant Torticollis

My son, now 15 months, was born in Pittsburgh with a condition called congenital torticollis. Torticollis means "twisted neck," and when a child has this condition, his head will be tilted to one side while the chin is turned to the other side.  The picture to the right shows the condition.  This is not my son but his condition looked just like this.

About 1 in 250 infants are born with torticollis (some estimates put the number much higher depending on diagnostic sensitivity). With the help of our pediatrician, we noticed pretty quickly after he was born that his head tilted to one side. We began an initial repositioning regimen where we tried to get him to look in the opposite direction as much as possible. When this didn’t work we began passive stretching exercises on our own. Unfortunately, I will never forget the day I finished giving my son a both and discovered a disturbing complication of torticollis, plagiocephaly. Plagiocephaly means head flattening. When my son got out of the bath, his hair was matted down. As I dried him in front of a mirror I found a pronounced flat spot on the back right portion of is head, the part of his head he always slept on. Even more disturbing was that I noticed a bulge to his forehead. An example picture of plagiocephally is below.  My wife and I then immediately got him back to the pediatrician and got set up with qualified pediatric physical therapists. Fortunately, with aggressive outpatient therapy and hard work (mostly from my wife!) at home, our son’s condition corrected itself.

Congenital torticollis is most often due to tightness in the muscle that connects the breastbone and the collarbone to the skull. (It's called the sternocleidomastoid muscle). This is called congenital muscular torticollis. This tightness might have developed because of the way your baby was positioned in the uterus (with the head tilted to one side) or because the muscles were damaged during delivery.

Many parents and infants are not as lucky as we were with our son however. Many infants are not timely diagnosed with torticollis and, as a result, suffer unnecessary consequences like plagiocephally. If left untreated or undertreated, plagiocephally can solidify leaving the child with a permanent skull deformity. Furthermore, improperly treated torticollis and plagiocephally has been linked to a myriad of mental and physical developmental deficits.

Congenital muscular torticollis is often diagnosed at birth or shortly thereafter. At the very latest it should be diagnosed within the first two months of a baby's life. Even if parents don't spot it, a pediatrician should be able to diagnose it early on. Unfortunately, it appears there are pediatricians out there not looking for this condition as vigilantly as we would hope.

The American Academy of Orthotists & Prosthetists has published an excellent article setting the gold standard for diagnosis, treatment and potential complications of torticollis. You can read that article here at Identification and Treatment of Congenital Muscular Torticollis in Infants.

The AAOP points out several important points about infant torticollis. For example, the AAOP advise that pediatricians must refer infants with plagiocephaly or torticollis to physical therapy by 2 to 3 months of age if neck movement does not improve after intervention with parent instructions in the physician's office. This means that the condition should be diagnosed before this time and a treatment regimen put in place. When that regimen is not showing positive results fairly quickly, then physical therapists need to be brought in.

Pediatricians need to be more aware of this problem as it is being seen more frequently. Over the past several years, pediatricians have seen an increase in the number of children with cranial asymmetry, particularly unilateral flattening of the occiput. This increase likely is attributable to parents following the American Academy of Pediatrics “Back to Sleep” positioning recommendations aimed at decreasing the risk of sudden infant death syndrome. Although associated with some risk of deformational plagiocephaly, healthy young infants should be placed down for sleep on their backs. This practice has been associated with a dramatic decrease in the incidence of sudden infant death syndrome but increase in the incidence of plagiocephaly related to torticollis. As a result, pediatricians need to be able to properly diagnose skull deformities, educate parents on methods to proactively decrease the likelihood of the development of occipital flattening, initiate appropriate management, and make referrals when necessary.

A report from the American Academy of Pediatricians provides guidance for the prevention, diagnosis, and management of positional skull deformity in an otherwise normal infant without evidence of associated anomalies, syndromes, or spinal disease. Read the full article here at Prevention and Management of Positional Skull Deformities in Infants.

A couple of important points from this report are first, to prevent the deformity, parents should be counseled during the newborn period (by 2–4 weeks of age) when the skull is maximally deformable. And second, Once positional skull deformity is diagnosed, the parent should be made aware of the condition and the mechanical adjustments that can be instituted. Thus, pediatricians need to make parents aware of this condition immediately and certainly notify the parent (as opposed to a wait and see perspective) if even the slightest skull deformity is observed.

I will talk more about this condition in a future post.

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