Gastrointestinal Issues In Bachmann-Bupp Syndrome

Introduction

Bachmann-Bupp Syndrome (BBS) is a rare genetic condition that affects many parts of the body, including the nerves and hair. Additionally, BBS may inhibit children’s growth rate. This issue arises due to changes in the ORN1 gene, making children grow incorrectly. Though hair loss, mind issues, and slow growth are well documented, issues with the gastrointestinal system have not been studied to the same degree. These stomach issues can negatively impact patients emotionally. In this article, we will explore the gastrointestinal issues that occur in those with BBS and how they affect the daily lives of those with the disease. Treatment and management strategies will also be explored.

What is Bachmann-Bupp Syndrome?

BBS occurs due to mutations in the ODC1 gene. This gene makes a protein that contributes to cell growth. When it has flaws, the body might not grow correctly, particularly in the brain and stomach areas. This health issue is very rare, with fewer than 20 known cases all over the world¹.

Knowing the belly (Gastrointestinal) system

The gastrointestinal system is where the body breaks down food and gets rid of waste. It is composed of the mouth, throat, stomach, intestines, liver, and pancreas. If any part fails, it may result in stomach issues. 

Issues in BBS

Currently, this condition has not been extensively studied, but there are many known stomach issues that patients experience. These include:

Trouble rating

Babies and young children with BBS find it hard to eat. They may find it hard to suck, swallow, or may not want to eat at all. This can cause them to grow at slower rates compared to those without BBS and struggle to gain weight appropriately.²

Not gaining weight and not eating well

Children with BBS often do not gain enough weight since they have trouble eating. They may not get all the food, vitamins, and essential nutrients that are required for optimum growth. Not eating well can make them grow slowly and lead to a significantly weaker immune system.

Hard stools

Individuals with BBS typically struggle to pass stools due to weak stomach muscles. This can lead to pain, an enlarged stomach, and increased difficulty when trying to go to the bathroom. Some children might only attempt to excrete once or twice a week. Issues such as inadequate nutrition, weight loss, hard stools, and stomach pain are associated with this condition.

Acid reflux (GERD)

Acid reflux, which is also referred to as gastrointestinal reflux disease (GERD), occurs when stomach acid moves back up to the oesophagus. This leads to a burning pain and sensation, and some individuals may feel the need to vomit. Children who are affected often refuse to eat or eat small amounts of food. In BBS, GERD might be seen more often because the muscles in their stomach area are weak.³

Stomach pain and feeling bad

Some children experience major stomach pains, bloating, which is often accompanied by a swollen abdomen. This may happen if the food moves slowly through their gastrointestinal tract or if they go to the bathroom infrequently. This pain results in sleeping difficulties and a lower quality of life.

Why do stomach problems happen in BBS?

Currently, it is not fully understood why BBS leads to stomach issues. At the time of writing, it is theorised that this phenomenon is due to the following factors:

• Nerve issues: Issues with brain function are potentially linked to nerve function impairment, resulting in stomach issues
• Weak muscles: If the muscles in the stomach are weak, this can result in stomach acid travelling up the oesophagus as well as hard stools
• Low muscle tone: Many children with BBS have low muscle tone, which can make food move slowly in the body and make it hard to swallow
• Gene problems: The gene ODC1 helps cells grow, and if this gene is not functioning effectively, stomach function is impaired as a result

How stomach problems affect quality of life

Stomach problems can make the daily lives of children who are affected very difficult, alongside those who are close to BBS patients. Lower appetite and stomach pains result in:

• Slow growth
• Multiple trips to the hospital
• Inadequate nutrition
• Increased levels of stress for those close to BBS patients
• Decreased sleep and worse sleep quality

Addressing these issues early on can improve the lives of children and their families.

Finding stomach problems in BBS

To find out about stomach problems in children with BBS, the following steps are often taken:

• Hospital visits: Doctors monitor the growth and diet of children with BBS
• Imaging: X-rays or sound wave tests may look for blocks and impaired stomach function
• Tips: Doctors can conduct tests that monitor digestive function and the gastrointestinal tract

BBS is not common, thus doctors may find it difficult to identify this condition promptly. It is therefore essential to examine and monitor health histories so that symptoms can be identified accurately. This will ultimately improve patient outcomes..

Treatment 

There is no cure for BBS, but there are ways to deal with the belly issues well. Some ways are:

Diet

• Higher calorie food implementation into the diets of those with BBS
• Added vitamins and minerals
• Tube feeding is an option if eating by mouth cannot occur

Medicines

• Medicines to prevent the incorrect movement of stomach acid
• Interventions to increase the appetite of BBS patients

Eating help

• Experts such as speech therapists can help children eat and swallow more effectively⁵

Keep checking

• Paediatricians and gastroenterologists can ensure that growth and eating habits are as normal as possible despite this disease⁵

Tips for parents on handling stomach issues at home

The parents of those affected have a key role in managing the gastrointestinal issues that children with BBS experience. Here are easy steps to follow:

• Write down what your child eats and whether they experience any BBS symptoms
• Ensure that meals are regular and appropriately sized
• Utilise techniques such as rubbing the stomach area to potentially reduce abnormal stools
• Try to encourage children to sit up after eating to prevent stomach acid from flowing in the wrong direction
• Ensure that your child is adequately hydrated; this will lead to better digestion

When parents and healthcare workers work together, this leads to better patient outcomes for children with BBS who are experiencing gastrointestinal issues.

Why further research is required

BBS is rare, thus, there have not been many studies on the effect of BBS on gastrointestinal function. More research is required to:

• Analyse the frequency of gastrointestinal issues
• Improve treatment techniques for this condition
• Make it easier to identify BBS and manage this condition early on
• Raising awareness can also help doctors identify the symptoms promptly and administer treatment

Summary

Gastrointestinal issues greatly affect those with BBS, and children may struggle with a variety of issues such as eating, bowel function, and growth. Treating these symptoms is challenging. Doctors and other healthcare professionals can help treat these symptoms by administering special diets and carrying out certain interventions. It is also essential for the families of those affected to provide a support network which will ensure that individuals with this condition can have a good quality of life. Patient outcomes should improve in the near future if all these strategies are implemented.