Feeding Tubes for Sanfilippo Syndrome Patients

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by Mary Chapman |

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Eating and drinking can be problematic in Sanfilippo syndrome, a rare neurodegenerative disorder characterized by intellectual and behavioral disabilities. Finding out your child may need a feeding tube can be overwhelming, particularly when other medical issues are present. Here’s some information that may help.

What is Sanfilippo syndrome?

Sanfilippo syndrome refers to a group of disorders caused by mutations in genes that provide instructions for making essential metabolic enzymes. These enzymes play roles in the pathways for breaking down large sugar molecules called glycosaminoglycans, or GAGs. GAGs are important complex carbohydrates that aid in regulating many biological processes.

The mutations lead to GAGs building up inside cells and tissues. These GAGs interfere with cell function, causing progressive mental deterioration and loss of mobility in children.

What are feeding problems in Sanfilippo?

As the disease progresses, many patients lose the ability to chew. They also may have difficulty swallowing, a condition known as dysphagia. People with dysphagia are at a higher risk of weight loss, choking, or aspiration pneumonia, the latter caused by food or drink getting into the lungs.

In addition, Sanfilippo patients sometimes have enlarged tongues, a condition that can lead to drooling and difficulty keeping food or liquids in their mouths.

When do feeding issues begin?

Typically, Sanfilippo syndrome progresses in three stages, beginning with developmental delays, particularly in language. In the second stage, children exhibit behavioral and sleep abnormalities. The third stage is characterized by a loss of mobility, seizures, and difficulties in feeding.

A study aiming to establish the natural history of Sanfilippo syndrome in Spain found that dysphagia began at a median age of 10.8 years in patients with type A and 13.6 in those with type C disease. Patients required tube feeding at an average age of 13.

As Sanfilippo syndrome progresses, feeding and swallowing will become more and more difficult. Specialists. such as medical geneticists and pediatric surgeons, should investigate and treat such issues.

In some cases, it may be necessary to switch to tube feeding in order to ensure the patient receives enough nutrition.

Types of feeding tubes

There are two primary choices for tube feeding: nasogastric and gastrostomy. Nasogastric (NG) feeding tubes run through the nose and down into the stomach. A gastrostomy tube (G-tube), the most common type of feeding tube, involves surgery to place an opening directly into the stomach through the abdomen. Each option comes with its own benefits and potential problems.

NG tubes are easier to place and remove, but can cause irritation and blockage in the airways. G-tubes are more stable. Still, they come with the risks associated with surgery and the potential risk of infection.

There are other types of tube systems. As with NG-tubes, nasoduodenal (ND) tubes enter through the nose but extend into the beginning of the small intestine — the duodenum. Doctors use such tubes in those who need tube feeding for a relatively short time, but are unable to tolerate feedings into the stomach.

Nasojejunal (NJ) tubes are nearly identical to ND-tubes, but extend somewhat more into the small intestine. The tube ends up in the jejunum, which is the part of the small intestine between the duodenum and ileum. Doctors can place and remove the tube without surgery in a hospital or clinic.

Gastrojejunal (GJ) tubes are similar to G-tubes in that they enter the stomach directly through the skin using the same site used for a G-tube. Most systems have two feeding ports — one into the stomach, and a second tube that extends into the small intestine. The longer internal tube permits feeding directly into the intestine. In most cases, doctors can convert a G-tube to a GJ-tube if patients cannot tolerate gastric feeding.

Finally, doctors directly place a jejunal tube (J-tube) into the small intestine. Such tubes are not very common, particularly in children, and require surgical placement. Feedings must be given slowly, over 18–24 hours.


Last updated: Sept. 23, 2020


Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.