Congenital muscular torticollis (CMT) is a common infant postural deformity of the neck evident at birth or shortly after. CMT causes the infant’s head to tilt to one side while the neck is rotated to the other side due to a shortness in the neck muscle. The causes for CMT are unclear, but fetal mal-positioning, uterine compression and birth trauma are among the suspected causes. 

It has been estimated that three in 100 infants will have CMT at birth.

According to Laura Bess, P.T., D.P.T., P.C.S., a physical therapist at Johns Hopkins All Children's Hospital, CMT is the most common reason for infants (babies that are younger than 12 months) to be referred to physical therapy.

“Treating infants with CMT comprises about 75 percent of my case load,” Bess says. “We hope to get them into treatment as soon as possible to get them normalized.” 

Bess adds that physical therapy for infants with CMT has produced good outcomes, especially with early intervention, even in infants as young as one month.

She cites treatment protocols outlined in the 2018 practice guidelines published by American Physical Therapy Association Academy of Pediatric Physical Therapy on the management of CMT. The guidelines note that the incidence of CMT ranges from 3.9 percent to 16 percent of newborns, and when treatment is initiated before age 1 month, 99 percent of infants with CMT achieve excellent clinical outcomes with an average treatment duration of less than two months. The quality of outcomes, however, decreases substantially when the initiation of treatment is delayed. If treatment is initiated at age 3 months, only 89 percent of infants achieved excellent outcomes.

Treating Infants with Both CMT and GERD 

“Over the last 10 years of treating infants with CMT, I was finding that some presenting with CMT also had a history of gastroesophageal reflux disease, or what’s referred to as ‘GERD,’” explains Bess. “GERD’s symptoms may include regurgitation or vomiting, irritability, anorexia or feeding refusal, poor weight gain, painful swallowing and arching the back when feeding.” 

Looking for information on the co-prevalence of CMT and GERD in infants, Bess searched the medical literature but found very few research articles that addressed the issue. A knowledge gap had been identified. 
“High quality research has shown that an early diagnosis of CMT and an early referral to physical therapy has the best outcome of resolving CMT,” Bess says. “However, this recommendation does not include CMT when accompanied by GERD. Our clinical experience has shown that infants receiving physical therapy intervention for CMT, but who also had symptoms of GERD, take longer to achieve a midline head posture, which is one of our goals.” 

Interested in drawing attention to the prevalence of GERD in infants receiving physical therapy for CMT, Bess and her colleagues developed a poster for an upcoming research symposium at Johns Hopkins All Children’s.

Michael Wilsey, M.D., who specializes in pediatric gastroenterology, hepatology and nutrition and is vice chair of the Division of Gastroenterology in the Johns Hopkins All Children’s Department of Medicine, refers cases of CMT to physical therapy. He attended the symposium and saw the poster. He was intrigued.

“I think you are on to something,” Wilsey told Bess. They agreed to develop an observational study to investigate the prevalence of GERD in infants with CMT, compare the clinical characteristics between CMT infants with and without GERD, and identify infants with previously undiagnosed GERD. 

Identifying the Symptoms of GERD in Infants with CMT

Wilsey, who helped develop the study design and served as senior author on the published study, suggested they employ the “Gastroesophageal Reflux Questionnaire Revised (I-GERQ-R)” which, according to Wilsey, is a valid and reliable diagnostic questionnaire for use in clinical trials.

“The scores of this questionnaire range from 0 to 42 with the higher score indicating greater severity of GERD symptoms, but with a cutoff of greater than 16 which indicates the presence of GERD,” he explains. 

The I-GERQ-R includes a battery of questions posed to parents or other caregivers of infants with CMT. The questions include: “How often and how much does the baby usually spit up? Does the baby refuse feedings, even when hungry? Does the baby have trouble gaining enough weight? Does the baby cry a lot during or after feedings? Does the baby have spells of arching back? Has the baby ever stopped breathing while awake or struggled to breathe, or turned blue or purple? 

The Study

Between the fall of 2018 and the winter of 2019, after an initial physical therapy evaluation at eight pediatric hospital-based outpatient care centers, the research team enrolled 155 infants with CMT. The results of their study — “Prevalence of Gastroesophageal Reflux Disease in Infants With Congenital Muscular Torticollis: A Prospective Cohort Study” — among the first prospective cohort studies to determine the prevalence of CMT and GERD in infants, were recently published in the journal Pediatric Physical Therapy (April 2022).

“Of the 155 infants enrolled, 41 (26.4 percent) were diagnosed with GERD by their physician,” wrote the researchers. “Additionally, six infants (3.9 percent) met the criteria for GERD using the I-GERQ-R, bringing the total number of infants with GERD to 47 (30.3 percent).” 

While completing data collection in 2019, a retrospective chart review spanning five years including 2,519 infants younger than 12 months examined the correlation between these diagnoses and found that the CMT cohort had a higher rate of GERD versus the general population (27.9% versus 23.0%). This further supports the findings of Bess and Wilsey. 

Conclusions 

“The study supported our clinical experience showing that GERD occurs commonly in infants who have CMT as evaluated by pediatric physical therapists,” Bess says. “Infants with CMT classification grades 1-3 comprised most infants with reflux and represented 42 participants, or 89.4 percent.” 

She adds that physical therapists can use this knowledge to educate and inform physicians and parents on the need to address positioning options for infants with GERD. 

The researchers also concluded that the increased co-prevalence of CMT and GERD may be due to a pathophysiological relationship between acid reflux and posturing and warrants further investigation. They suggested that further prospective studies would be needed to determine whether early intervention and treatment of GERD improves clinical outcomes for physical therapy in infants with CMT. 

Bess and Wilsey agree that the exposure given to the I-GERQ-R through their study may result in more clinicians and physical therapists using the tool and, subsequently, being better able to diagnose GERD along with cases of CMT.