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Reflux - When to Test


Our daughter has not had any obvious feeding problems since shortly after her birth. She is currently at approximately the 50th percentile on a typically developing growth chart for height and weight. As a baby, she held herself rigid at times, arching her back. We thought then, it was her way of compensating for low muscle tone. But at the conference, I learned it was a sign of reflux. She does not have any episodes of vomiting, etc. Should testing be done?

Answer of our experts

This is a subject with which many parents struggle. It is estimated that at least 85% of individuals with CdLS experience reflux or related GI issues at some point during their lives. Because this is so, it is encouraged that all individuals with CdLS be evaluated at least once. For those experiencing symptoms or are diagnosed with reflux, evaluations should occur more frequently (even annually for some)

Reflux is an issue common to the general population of infants, not just those with CdLS or other special needs. It is something that many infants outgrow as toddlers and young children. For individuals with CdLS, reflux can subside after early childhood and possibly resurface during their lifetime, making reevaluations necessary. This is also compounded by the fact that not all signs of GI-related problems are obvious. Behavior, posturing (body movements), difficult sleeping, and issues around oral eating (texture, coughing or gagging while eating, lack of desire to eat) can all be symptoms that further evaluation is indicated

It is important to note that there are some individuals with CdLS for whom this is, fortunately, not a problem. However, ruling it out as a possibility, can ensure that issues are not being overlooked and bring peace of mind. It is important to note that many tests are invasive. For more information before making decisions about testing, refer to the GI publications on the Foundation website or contact a Foundation Family Service Coordinator for a hard copy. Family matches are available if you would like to ask another parent who has experience with these issues. A pediatrician may also make a referral to a gastroentorologist for consultation

MW/TK 7-13-10

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Consider always gastro-oesophageal reflux disease (GORD) in any individual with CdLS owing to its frequency and wide variability in presentation, which includes challenging behaviour.
Modification of nutrition and proton pump inhibitors (PPI) are the first-line treatments of GORD. Anti-reflux medications need to be used to their maximum dosage. Surgical interventions for GORD should be limited to those individuals with CdLS in whom nutritional and medical treatments have been unsuccessful or airway safety is at risk.
If GORD symptoms persist, endoscopy should be strongly considered whilst an individual with CdLS is still in paediatric care.
Surveillance for Barrett’s Oesophagus needs to be discussed with and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.

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