The gut forms during pregnancy by a complex set of coordinated cell movements. This process of normal development is not always perfect, and when problems occur, bowel anatomy is not normal and the baby has a birth defect. There are many distinct types of birth defect that can affect the bowel. Some of these birth defects can affect bowel motility.

Medical conditions we care for in the Suzi and Scott Lustgarten Center for GI Motility include:

Hirschsprung's disease

Hirschsprung’s disease is a birth defect of the intestines in which nerves in the wall of the intestine do not form properly. Treatment of Hirschsprung’s disease requires surgical removal of the portion of the bowel without ganglion cells. Although this surgery is life-saving, children with Hirschsprung's disease may have problems before and after surgery, including abdominal distension, vomiting, and difficulty with bowel movements.

We work closely with our pediatric surgeons to optimize care. This includes medical management and diagnostic testing. Specialized tests and treatments offered include:

• Anorectal manometry for Hirschsprung's disease diagnosis
• Anorectal manometry after surgery to assess anal sphincter function and to evaluate the ability of children to voluntarily control muscles needed to pass stool or to sense stool in the rectum
• Botox^® injection into the anal sphincter

For children who have problems passing stool after surgery, in addition to medicine our specially trained nurses and psychologists work with children to help them learn to control bowel movements. This includes the use of biofeedback where we help children learn to control their muscles needed to pass stool.

Gastroschisis

Gastroschisis is a problem where the baby is born with part of the bowel outside of the abdominal cavity. This can occur because the bowel normally starts to grow outside the abdomen during early pregnancy. Then the bowel is supposed to move into the abdomen ande the abdominal wall is supposed to close. If the bowel stays outside the abdominal cavity (surrounded by amniotic fluid), the bowel does not develop normally. Bowel may be shorter, thicker and more dilated than normal, and motility is often abnormal. For this reason, even after our surgeons repair the problem and put the bowel back in the abdomen, children with gastroschisis may have prolonged problems with bowel motility. 

Fortunately bowel motility improves over time, but children may need specialty care for years. The Disorders of Gut Development Program offers:

• Specialized nutritional management with or without tube feeding
• Intravenous nutrition
• Medicines that may enhance motility
• Close partnership with our CHOP pediatric surgical partners

Malrotation

Malrotation is a birth defect where the bowel is not positioned normally within the abdomen. Malrotation allows the bowel to twist in a way that can block the bowel and reduce blood flow, a problem called volvulus. Volvulus is dangerous and can lead to loss of most of the small bowel, so children with malrotation (once identified) are treated surgically. After surgery, most children with malrotation do well, whereas others have bowel motility problems. In particular, children with weak bowel smooth muscle (a problem called myopathic pseudo-obstruction) often have malrotation.

In the Suzi and Scott Lustgarten Center for GI Motility, we offer specialized testing to determine if bowel motility is normal including:

• Antroduodenal manometry
• Colon manometry

We also offer nutritional management and medical management to enhance bowel motility.

Genetic disorders of gut function

Genes are encoded in the DNA of every cell and provide the instructions for making a baby. When those “instructions” are abnormal, bowel structure and function can also be abnormal. In fact, some of the most serious bowel motility disorders have an underlying genetic basis.

Our team cares for children with diverse genetic disorders that affect bowel motility. This includes children with:

• Hirschsprung's disease
• Chronic intestinal pseudo-obstruction
• Down syndrome (which predisposes to bowel problems)
• 22q11.2 deletion syndrome
• Cornelia de Lange syndrome
• Mitochondrial disease

We work closely with the Roberts Individualized Medical Genetic Center (IMGC) at CHOP to make new genetic diagnoses. We use new powerful genetic approaches like whole exome sequencing, mitochondrial DNA sequencing, and high-density SNP arrays. Most importantly GI Motility Center physicians work closely with medical geneticists to help families understand what genetic tests results mean and use these results to help direct care.