Gastrointestinal/Feeding Issues and the Digestive System
Gastrointestinal Challenges and feeding issues with children with Emanuel Syndrome are common. Some children have problems with coordination of the muscles involved in swallowing, which can cause choking or aspiration of food or liquids into the lungs. For these children it may be unsafe to eat food orally, and therefore they may be on a soft or pureed diet, or may need to have a gastrostomy tube (a tube implanted into the stomach).
Learn more: Tube feeding for kids
The majority (75%) of our children have issues with drooling, which is likely secondary to hypotonia in the facial muscles. Some of the children in our group have used treatments with medication or surgery to control drooling if it becomes severe. Talk to your doctor if you are concerned.
“It was discovered during a swallow study that Phoenix suffers from reflux. He has been on antacid medication since birth. Phoenix drools constantly and needs several bibs per day. He does not swallow his secretions.”
Many also have ongoing problems with constipation and require the use of laxatives or stool softeners. You will want to make sure this is one area that gets under control quickly and you should speak to your pediatrician about bowel regimes.
Some of our children experience gastroesophageal reflux (GERD) and require antacid medication. Some children require surgery called a fundoplication. Read more about GERD from the Children’s Hospital of Philadelphia.
Hernias
Some of our children have been born with a severe defect called a diaphragmatic hernia. This is a defect or “hole” in the muscular wall that separates the lungs and heart from the abdomen, which allows the contents of the abdomen to enter the chest cavity. This can cause serious problems with breathing and stress on the heart. It requires surgery to repair.
This is Maria – she is using mechanical ventilation due to having a diaphragmatic hernia.
Read more about diaphragmatic hernias from the Children’s Hospital of Philadelphia.
Research
A recent paper reviewing congenital diaphragmatic hernia and Emanuel syndrome is Adams et. al., 2021. This paper reviews medical and surgical interventions offered to patients including surgical repair and ECMO support (extracorporeal membrane oxygenation). This allows the blood to bypass the heart and lungs to allow them to heal.
Other types of hernias such as belly button (umbilical) or groin (inguinal) can also exist, but these are typically not life-threatening.
A condition called intestinal malrotation has also been seen in some of our children. This is a twisting of the intestines or bowel and can cause obstructions, which may require surgical treatment.
Liver & Gallbladder
Some of our children have experienced liver differences, including reports of biliary atresia or liver lobe agenesis.
There have also been gallbladder issues seen, including reports of gallstones.
References
Adams, L. E., Chapman, A., Cormack, C. L., Campbell, K., Ebanks, A. H., Annibale, D. J., & Hollinger, L. E. (2021). Emanuel syndrome and congenital diaphragmatic hernia: A systematic review. Journal of Pediatric Surgery, S0022-3468(21)00777-6. Advance online publication. https://doi.org/10.1016/j.jpedsurg.2021.11.005
Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957
You may also be interested in: Emanuel Syndrome Guide for Familes & Caregivers