Constipation
Constipation is typically defined as having fewer than three bowel movements per week or experiencing difficulty passing stool. It is a common condition in the general population. Constipation is classified as chronic when an individual experiences two or more of the following symptoms for three months or longer:
- Fewer than three bowel movements per week
- Hard, dry, or lumpy stools
- Straining or pain during bowel movements
- A sensation of incomplete evacuation (feeling that not all stool has passed)
- A feeling of blockage in the rectum
- The need to use a finger to assist in stool passage1
53% of 8p Heroes in the Chromosome 8p Registry report constipation.
While the exact prevalence of constipation in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 68% of the participating patients reported constipation.2
- Trend Community Voice Report highlights constipation as one of the most frequently mentioned symptoms, with over 120 mentions by community members between 2019 and 2023.3
- Hydration: Drinking plenty of water is essential for preventing and relieving constipation.
- Nutrition: A well-balanced whole foods, high fiber diet to promote regular bowel movements. There are two types of fiber, soluble and insoluble
- Soluble fiber: Dissolves in water, helping to lower glucose and cholesterol levels.
- Foods high in soluble fiber: oatmeal, nuts, beans, lentils, pears, apples and berries
- Insoluble fiber: Does not dissolve in water and helps move food through the digestive system, promoting regularity.
- Foods high in insoluble fiber: wheat, whole wheat bread, whole grain couscous, brown rice, legumes, carrots, cucumbers and tomatoes
- Soluble fiber: Dissolves in water, helping to lower glucose and cholesterol levels.
- Daily Movement: Regular movement and exercise is helpful in preventing and relieving constipation.
Natural Stool Softeners
Natural remedies can be a gentle and effective way to relieve constipation without the need for laxatives. These options should complement a balanced fiber-rich diet, hydration, and exercise: Important Note: Always start with small amounts of natural remedies to see how your body responds. If constipation persists, consult a healthcare provider to rule out any underlying medical conditions.Prunes or Prune Juice:
Prunes contain high levels of fiber and sorbitol, which help soften stools by drawing water into the intestines.If you’re trying prunes or prune juice for the first time, the general recommendations can be found below:- Children:
- Prune Juice: Start with 2 ounces in the morning; add an evening dose if effective.
- Prunes: 2.5 dried prunes are equivalent to 2 ounces of prune juice.5
- Adults
- Prune Juice: Start with 4 ounces in the morning; add an evening dose if needed.
- Prunes: Five dried prunes are equivalent to 4 ounces of prune juice.5
Magnesium (Citrate or Oxide):
Magnesium is a mineral that plays a key role in muscle relaxation, including the muscles in the digestive tract. Magnesium citrate and magnesium oxide can both help soften stools by drawing water into the intestines, which helps to ease bowel movements. Magnesium supplementation should always be discussed with a healthcare provider, as certain medical conditions and medications may contraindicate its use. When supplementing magnesium, it is prudent to start with a low dose (approximately 1/3 of the tolerable upper intake level) and gradually increase until the desired bowel outcome is achieved.Recommended Dietary Allowances (RDA) for Magnesium (Dietary Intake):
-
- 1–3 years: 80 mg/day
- 4–8 years: 130 mg/day
- 9–13 years: 240 mg/day
- 14–18 years: 410 mg/day (males) and 360 mg/day (females)6
Tolerable Upper Intake Levels for Supplemental Magnesium (Excludes Dietary Sources):
-
- 1–3 years: 65 mg/day
- 4–8 years: 110 mg/day
- 9–18 years: 350 mg/day6
MCT Oil:
Medium-chain triglycerides (MCT) are fats that are quickly absorbed and utilized by the body. MCT oil can act as a mild stool softener by lubricating the digestive tract and increasing fat absorption, which can help make stools softer and easier to pass. Start with a small amount (e.g., 1 teaspoon) to avoid potential side effects like cramping or diarrhea.Ginger:
Known for its anti-inflammatory properties, ginger can stimulate digestion and help alleviate constipation. It can promote peristalsis and increase bile production, which aids in breaking down food and moving it through the digestive system. Ginger can be consumed as tea, fresh, or in powdered form.Senna Tea:
Senna is an herbal remedy commonly used for its potent natural laxative effects. It contains compounds called sennosides, which stimulate the intestines to move stool through the digestive tract. Senna tea is best used occasionally and not for long-term relief, as it can cause dependency with prolonged use.Artichoke Leaf:
Artichoke leaf extract has been used to support digestive health by promoting bile flow, which aids in digestion and helps relieve constipation. It can be consumed as a supplement or brewed as tea to help with bowel regularity.- Mayo Clinic. Constipation: Symptoms and Causes.https://www.mayoclinic.org/diseases-conditions/constipation/symptoms-causes/syc-20354253
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf..
- TREND Community. Community Voice Report: Chromosome 8p. Vol. 2, Issue 1, September 2023. Available at: https://drive.google.com/file/d/1VhzeMAA1eBi8lUlh2RwTOqm-X7dnCYKg/view.
- Harvard T.H. Chan School of Public Health. The Nutrition Source: Fiber..
https://nutritionsource.hsph.harvard.edu/carbohydrates/fiber/ - Cleveland Clinic. Prune Juice for Constipation: Does It Work?
https://health.clevelandclinic.org/prune-juice-for-constipation - Office of Dietary Supplements. (n.d.). Magnesium – Health Professional Fact Sheet. National Institutes of Health. Retrieved from https://ods.od.nih.gov/factsheets/Magnesium-HealthProfessional/
Project 8p Foundation’s Share What Works Series:
- Geri Brewster RD MPH CDN. Nutritional Series:
Constipation generally means passing fewer than three stools a week or having a difficult time passing stool, it is a relatively common condition in the general population. Constipation is considered chronic if an individual has 2 or more of these symptoms for 3 months or longer:
- Fewer than three stools a week
- Hard, dry or lumpy stools
- Straining or pain when passing stools
- A feeling that not all stool has passed
- A feeling that the rectum is blocked
- The need to use a finger to pass stool1
53% of 8p Heroes in the Chromosome 8p Registry report constipation.
While the exact prevalence of constipation in individuals with chromosome 8p rearrangements is unknown, they are recognized as a common symptom. Studies and reports provide a clearer understanding of the prevalence range, though results vary depending on the size and characteristics of the populations studied:
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 68% of the participating patients reported constipation.
- Trend Community Voice Report highlights constipation as one of the most frequently mentioned symptoms, with over 120 mentions by community members between 2019 and 2023.
There are many recommendations that can address constipation. The goal is to have a daily, soft bowel movement.
Hydration: Drinking plenty of water is essential for preventing and relieving constipation.
Nutrition: A well-balanced whole foods, high fiber diet to promote regular bowel movements. There are two types of fiber, soluble and insoluble.
- Soluble fiber dissolves in water, can help lower glucose levels as well as help lower blood cholesterol. Foods high in soluble fiber include: oatmeal, nuts, beans, lentils, pears, apples and berries.
- Insoluble fiber does not dissolve in water, can help food move through your digestive system, promoting regularity and helping prevent constipation. Foods high in insoluble fiber include: wheat, whole wheat bread, whole grain couscous, brown rice, legumes, carrots, cucumbers and tomatoes.
Daily Movement: Regular movement and exercise is helpful in preventing and relieving constipation.
Natural Stool Softeners
When dealing with constipation, natural stool softeners can be a gentle and effective way to promote regular bowel movements without resorting to laxatives. These remedies work by softening the stool, making it easier to pass.
Important Note: Natural stool softeners are generally safe for occasional use, but it’s essential to start with only one at a time and in small amounts to see how your body reacts. These remedies should complement a balanced fiber-rich diet, adequate hydration, and regular physical activity. If constipation persists, it’s best to consult a healthcare provider to rule out any underlying medical conditions.
Prunes or Prune Juice:
Prunes are a well-known remedy for constipation due to their high fiber content and the presence of sorbitol, a natural sugar alcohol that helps draw water into the intestines, softening stools.
If you’re trying prunes or prune juice for the first time, the general recommendations can be found below:
- Children:
- Prune Juice – Start with 2 ounces in the morning. If the body responds well, a second cup in the evening might be helpful.
- Prunes – About 2.5 dried prunes are equivalent to 2 ounces of prune juice.
- Adults
- Prune Juice – Start with 4 ounces in the morning. If the body responds well, a second cup in the evening might be helpful.
- Prunes – About five dried prunes are equivalent to 4 ounces of prune juice.
MCT Oil:
Medium-chain triglycerides (MCT) are fats that are quickly absorbed and utilized by the body. MCT oil can act as a mild stool softener by lubricating the digestive tract and increasing fat absorption, which can help make stools softer and easier to pass. Start with a small amount (e.g., 1 teaspoon) to avoid potential side effects like cramping or diarrhea.
Magnesium (Citrate or Oxide):
Magnesium is a mineral that plays a key role in muscle relaxation, including the muscles in the digestive tract. Magnesium citrate and magnesium oxide can both help soften stools by drawing water into the intestines, which helps to ease bowel movements. Magnesium supplements can be taken in appropriate doses to support digestive regularity.
Ginger:
Known for its anti-inflammatory properties, ginger can stimulate digestion and help alleviate constipation. It can promote peristalsis and increase bile production, which aids in breaking down food and moving it through the digestive system. Ginger can be consumed as tea, fresh, or in powdered form.
Senna Tea:
Senna is an herbal remedy commonly used for its potent natural laxative effects. It contains compounds called sennosides, which stimulate the intestines to move stool through the digestive tract. Senna tea is best used occasionally and not for long-term relief, as it can cause dependency with prolonged use.
Artichoke Leaf:
Artichoke leaf extract has been used to support digestive health by promoting bile flow, which aids in digestion and helps relieve constipation. It can be consumed as a supplement or brewed as tea to help with bowel regularity.
- Mayo Clinic. Constipation: Symptoms and Causes.https://www.mayoclinic.org/diseases-conditions/constipation/symptoms-causes/syc-20354253
. - Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf..
- TREND Community. Community Voice Report: Chromosome 8p. Vol. 2, Issue 1, September 2023. Available at: https://drive.google.com/file/d/1VhzeMAA1eBi8lUlh2RwTOqm-X7dnCYKg/view.
- Harvard T.H. Chan School of Public Health. The Nutrition Source: Fiber..
https://nutritionsource.hsph.harvard.edu/carbohydrates/fiber/
. - Cleveland Clinic. Prune Juice for Constipation: Does It Work?
.
https://health.clevelandclinic.org/prune-juice-for-constipation.
Project 8p Foundation’s Share What Works Series:
Geri Brewseter RD MPH CDN.
Nutritional Series
- Constipation Relief
- Brain Cognitive Support and Picky Eaters
- Bone Density Muscular Skeletal Support & Muscle Tone Challenges
- Neuro Influencing Compounds Within Foods
Gastroesophageal Reflux Disease (GERD)
Gastroesophageal Reflux Disease (GERD) is a condition in which stomach acid frequently flows back into the esophagus—the tube that connects the mouth to the stomach. This condition is commonly known as acid reflux.
- A burning sensation in the chest (heartburn), often occurring after meals and worsening at night or when lying down
- Regurgitation of food or sour liquid into the throat
- Pain in the upper abdomen or chest
- Difficulty swallowing (dysphagia)
- A sensation of a lump in the throat
Additional Symptoms of Nighttime Acid Reflux:
- Persistent cough
- Inflammation of the vocal cords (laryngitis)
- New or worsening asthma symptoms
Infants and Acid Reflux: Spitting up is common in young infants. As long as the child is growing well and not showing other concerning symptoms, this typically does not require treatment and resolves with time.
When to Seek Treatment for GERD in Children: Treatment may be necessary for GERD in children if your child has:
- Frequent vomiting that leads to poor weight gain or stunted growth
- Pain that interferes with daily activities
- Complications from reflux, such as esophageal inflammation (esophagitis), ulcers in the esophagus, or respiratory issues that require hospitalization2
25% of 8p Heroes in the Chromosome 8p Registry report Reflux.
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of GERD in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 53% of the participating patients reported GERD3.
Diagnosis
In most cases, reflux in children can be diagnosed without any tests. A thorough discussion of symptoms, medical history, and a physical examination are usually sufficient. However, if symptoms persist or there is concern about weight loss, additional diagnostic tests may be performed, including:- Upper GI Series: X-rays taken after the child drinks barium to rule out anatomical issues.
- pH Probe and Impedance Studies: Measures the presence and severity of stomach acid in the esophagus to evaluate reflux or the effectiveness of treatment.
- Endoscopy: A small camera is used to examine the esophagus for inflammation or other underlying issues, typically performed under anesthesia.
- Esophageal and Gastric Motility Testing: Assesses whether the muscles of the GI tract are functioning properly to move food through the digestive system.4
Treatment
The primary approach to managing reflux involves lifestyle modifications and reflux precautions.For Infants:
- Thickening formula may reduce the amount of spit-up, although it does not decrease the frequency of reflux episodes.
- Keeping the baby’s head elevated during and after feeds can help reduce discomfort.
For Older Children:
- Avoid foods that can trigger reflux, such as caffeine, chocolate, greasy foods, and tomato-based products.
- Refrain from eating or drinking two hours before bedtime.
- Elevating the head of the bed may provide relief.
Medications: When lifestyle changes are insufficient, medications that neutralize or reduce stomach acid may be prescribed to heal inflammation caused by reflux. These include:
- Antacids: Neutralize stomach acid.
- H2 Blockers: Reduce acid production (e.g., Zantac).
- Proton Pump Inhibitors (PPIs): Significantly inhibit acid production (e.g., Prilosec).
Surgical Intervention: In severe cases or when complications arise, surgery may be necessary. This procedure, typically performed laparoscopically by a pediatric surgeon, involves tightening the muscle at the top of the stomach to prevent reflux. Laparoscopic surgery usually allows for faster recovery and smaller incisions.4
- Mayo Clinic. GERD: Symptoms and Causes.
https://www.mayoclinic.org/diseases-conditions/gerd/symptoms-causes/syc-20361940 - Boston Children’s Hospital. Gastroesophageal Reflux Disease (GERD).https://www.childrenshospital.org/conditions/gerd
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
Children’s Hospital Colorad. oGastroesophageal Reflux Disease (GERD).
https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/gastroesophageal-reflux-disease
Project 8p Foundation’s Share What Works Series:
- Geri Brewster RD MPH CDN. Nutritional Series:
Symptoms of GERD:
- A burning feeling in the chest, commonly known as heartburn. This sensation often occurs after meals and may worsen at night or when lying down.
- Regurgitation of food or sour liquid into the throat
- Pain in the upper abdomen or chest
- Difficulty swallowing, also known as dysphagia
- A sensation of a lump in the throat
- A persistent cough
- Inflammation of the vocal cords, known as laryngitis
- New or worsening asthma symptoms
Spitting up is common for young infants. As long as the child is growing well and not developing other issues, this condition usually requires no treatment and typically resolves with time.
When to Seek Treatment for GERD in Children: Treatment may be necessary for GERD in children if your child has:
- Frequent vomiting that leads to poor weight gain or stunted growth
- Pain that interferes with daily activities
- Complications from reflux, such as esophageal inflammation (esophagitis), ulcers in the esophagus, or respiratory issues that require hospitalization2
Project 8p Foundation Affiliated Research on Chromosome 8p Disorders
While the exact prevalence of GERD in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 53% of the participating patients reported GERD.
Most of the time, no tests are needed to diagnose reflux in children. A discussion of symptoms, medical history, and a physical exam are typically sufficient. If symptoms persist or there is weight loss, doctors may use additional tests, such as:
- Upper GI Series: X-rays taken after the child drinks barium to rule out anatomical issues.
- pH Probe and Impedance Studies: Measure stomach acid in the esophagus to assess reflux severity or treatment effectiveness.
- Endoscopy: Uses a tiny camera to check for inflammation or underlying causes of reflux, usually performed under anesthesia.
- Esophageal and Gastric Motility Testing: Determines if the GI tract muscles are moving food properly.
The primary treatment for reflux involves lifestyle changes and reflux precautions.
For babies, formula can be thickened to reduce the amount of spit up, though this doesn’t decrease the number of reflux episodes. Elevating the baby’s head during and after a feed may also help.
For older children, it’s recommended to avoid caffeine, chocolate, greasy foods, and tomato sauce. They should also avoid eating or drinking two hours before bedtime, and elevating the head of their bed can be beneficial.
Medications that neutralize or reduce stomach acid can be used to heal inflammation caused by reflux. These include:
- Antacids: Neutralize stomach acid.
- H2 Blockers: Reduce acid production (e.g., Zantac).
- Proton Pump Inhibitors (PPIs): Strongly inhibit acid production (e.g., Prilosec).
In severe cases of reflux or when complications arise, surgery may be required. This procedure tightens the muscle at the top of the stomach and is usually done laparoscopically by a pediatric surgeon, allowing for quicker recovery with smaller incisions.
- Mayo Clinic. GERD: Symptoms and Causes. https://www.mayoclinic.org/diseases-conditions/gerd/symptoms-causes/syc-20361940
- Boston Children’s Hospital. Gastroesophageal Reflux Disease (GERD). https://www.childrenshospital.org/conditions/gerd
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
- Children’s Hospital Colorado. Gastroesophageal Reflux Disease (GERD). https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/gastroesophageal-reflux-disease
Project 8p Foundation’s Share What Works Series: Geri Brewseter RD MPH CDN.
Nutritional Series
Diarrhea
Diarrhea is typically defined as passing loose or watery stools three or more times a day, it is relatively common in the general population. Diarrhea is considered chronic if it persists for four weeks or longer, or occurs intermittently over a long period of time. Chronic diarrhea may be associated with other underlying conditions, and individuals experiencing ongoing symptoms should consult a licensed medical provider.
Symptoms of Diarrhea:
- Frequent, loose, or watery stool
- Urgency to have a bowel movement
- Abdominal cramping or pain
- Bloating or gas
- Nausea
- Dehydration
Chronic diarrhea may also lead to additional complications, such as nutrient deficiencies or dehydration, requiring more focused treatment and care.1
10% of 8p Heroes in the Chromosome 8p Registry report Diarrhea.
While the exact prevalence of Diarrhea in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 8% of the participating patients reported Diarrhea.2
- Antibiotics or Antiparasitics: These medications may be prescribed if bacteria or parasites are the cause of diarrhea. Viral diarrhea does not respond to antibiotics.
- Fluid Replacement: It’s important to replace lost fluids and electrolytes. For most adults, drinking water with electrolytes, juice, or broth is recommended. If fluids are not tolerated, IV fluids may be necessary. Children may benefit from oral rehydration solutions like Pedialyte.
- Adjusting Medications: If an antibiotic is causing diarrhea, your healthcare provider may adjust the dose or switch medications.
- Treating Underlying Conditions: If diarrhea is due to a more serious condition, like inflammatory bowel disease, a specialist may develop a treatment plan to manage the underlying condition.1
- Mayo Clinic. Diarrhea: Symptoms and Causeshttps://www.mayoclinic.org/diseases-conditions/diarrhea/symptoms-causes/syc-20352241
- Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine,
https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
Project 8p Foundation’s Share What Works Series:
Symptoms of Diarrhea:
- Frequent, loose, or watery stools
- Urgency to have a bowel movement
- Abdominal cramping or pain
- Bloating or gas
- Nausea
- Dehydration
While the exact prevalence of Diarrhea in individuals with chromosome 8p rearrangements is not well established, it is recognized as a common symptom. Research provides a clearer picture of the prevalence range, although results can vary based on the size and characteristics of the populations studied.
- A 2019 study, Clinical and genomic characterization of 8p cytogenomic disorder reported 8% of the participating patients reported Diarrhea.
Most cases of sudden diarrhea resolve on their own within a few days. However, if home remedies are ineffective, a licensed medical provider may recommend medications or other treatments.
- Antibiotics or Antiparasitics: These medications may be prescribed if bacteria or parasites are the cause of diarrhea. Viral diarrhea does not respond to antibiotics.
- Fluid Replacement: It’s important to replace lost fluids and electrolytes. For most adults, drinking water with electrolytes, juice, or broth is recommended. If fluids are not tolerated, IV fluids may be necessary. Children may benefit from oral rehydration solutions like Pedialyte.
- Adjusting Medications: If an antibiotic is causing diarrhea, your healthcare provider may adjust the dose or switch medications.
- Treating Underlying Conditions: If diarrhea is due to a more serious condition, like inflammatory bowel disease, a specialist may develop a treatment plan to manage the underlying condition.
- Mayo Clinic. Diarrhea: Symptoms and Causes
https://www.mayoclinic.org/diseases-conditions/diarrhea/symptoms-causes/syc-20352241 - Okur, Volkan, Chung, Wendy et al. “Clinical and Genomic Characterization of 8p Cytogenomic Disorders.” Genetics in Medicine, https://project8p.org/wp-content/uploads/2023/08/s41436-021-01270-2.pdf
Project 8p Foundation’s Share What Works Series: Geri Brewseter RD MPH CDN.
Nutritional Series
Project 8p Insights Portal
To generate the visualization, please select at least one 8p genotype. You may choose multiple genotypes or select all to view insights from all 8p Heroes in the Chromosome 8p Registry.
Search By
This visualization is powered by research sponsored by Project 8p and survey data collected from the Chromosome 8p Registry, representing insights from a total of 120 8p heroes. It is part of the soon-to-launch Insights Portal, designed to offer advanced tools for data analysis, access, and visualizations, accelerating research and discovery for chromosome 8p disorders.
Last Updated 10/30/2024
