Feeding and Gastroesophageal Reflux Disease (GERD)


Many individuals with CdLS experience feeding concerns at some point in their lives. Challenges can include food aversions; being a messy, slow, or picky eater; eating limited varieties and small amounts of food; taking very small bites; spitting food out; and refusing to eat. On occasion, however, some individuals “stuff” food in their mouths.
There are a variety of factors that impact feeding, including gastroesophageal reflux disease (GERD), low muscle tone in and around the mouth, a small jaw (micrognathia), oral defensiveness, and aspiration of food or liquids. Symptoms of oral feeding difficulties include choking, coughing, gagging, vomiting, a “gargly” sounding voice after feeding, aspiration, and food aversions.


Many different diseases of the lung, ear, nose and throat, as well as feeding difficulties and behavior problems, are thought to stem from the regurgitation of acid (reflux). Gastroesophageal Reflux Disease (GERD) is the term that collectively describes the different problems and diseases that can occur. The pain from GERD can interfere with appetite, social activities, and sleep. If a person with CdLS cannot verbally report symptoms, he/she may show changes in behavior that reflect chronic pain, such as irritability or self-injurious behaviors.

Patients with CdLS, who present with chronic pain thought to be related to the GI tract, should undergo a standard acid-reflux evaluation. The treatment for reflux usually consists of special diets, medications, and elevating the body after eating. If these treatments are not successful, surgical procedures such as a Nissen fundoplication or a gastrostomy may be necessary. The Nissen results in a narrowing of the lower esophagus and the gastrostomy provides a hole in the stomach, thus allowing for feeding by a gastrostomy tube and providing an outlet for stomach gases.

Sandifer Syndrome, which is sometimes seen in individuals with CdLS, is characterized by severe gastroesophageal reflux and unusual body movements such as wiggling and moving constantly, turning the head to one side or throwing the head back.

Gastrointestinal Issues

Management of gastrointestinal (GI) complaints can be challenging. Problems based in the GI tract exist in a very high percentage of individuals with the syndrome. Complaints can originate from the upper GI tract, including the esophagus, stomach, and upper small intestine. Problems from these areas can be mild and easily manageable, such as occasional symptoms of vomiting, belching, heartburn, or intermittent poor appetite. As these symptoms become more severe, more consistent, and more difficult to overcome, they require a more comprehensive evaluation.

Complaints can also originate from the lower GI tract, which includes the large intestine, rectum and anus. These complaints can be mild and easily manageable, or severe. Problems with the lower areas of the GI tract typically involve the formation and passage of stool. Constipation, diarrhea and gaseous distension with cramping are common problems.

  A formal assessment can be done by the child’s primary care physician and, if needed, by a gastroenterologist. Common studies done for both upper and lower GI tract problems include blood and stool tests, X-rays and endoscopic studies.



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