Branchiootic syndrome

Living with

What is the life expectancy of a person with branchiootic syndrome?

For most people, branchiootic syndrome does not change life expectancy and many people will have a normal life span.

References
  • Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/
  • Morisada N, Nozu K, Iijima K. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. Pediatr Int. 2014;56(3):309-14.
Show More Content Like This

More Living with Content

What percentage of people with branchiootic syndrome have hearing loss?

Does branchiootic syndrome affect everyone the same way?

What can I do for siblings of kids with branchiootic syndrome?

Do children with branchiootic syndrome need to see the doctor regularly?

Are there early intervention programs for branchiootic syndrome?

If my child didn't get branchiootic syndrome from one of their parents, why is it called a genetic disorder?

How do children with branchiootic syndrome do in school?

How do children with branchiootic syndrome go from pediatric care to adult care?

Will my child outgrow branchiootic syndrome?

Is diet and nutrition important in branchiootic syndrome?

If I have branchiootic syndrome, are there any medications I should avoid?

What percentage of people with branchiootic syndrome have hearing loss?

More than 90% of people with branchiootic syndrome and the related branchiootorenal syndrome have hearing loss. The degree of hearing loss can vary greatly from mild to moderate to severe to profound.

References
  • Stinckens C, Standaert L, Casselman JW, Huygen PL, Kumar S, Van de Wallen J, Cremers CW. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol. 2001;59:163?72. PMID: 11397497.
  • Morisada N, Nozu K, Iijima K. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. Pediatr Int. 2014;56(3):309-14.
Does branchiootic syndrome affect everyone the same way?

People with branchiootic syndrome and the related branchiootorenal (BOR) syndrome are affected differently and it is difficult to predict medical concerns at birth. Some people are more mildly affected and some people are more severely affected. Some people have severe kidney problems and some have mild. People with branchiootic syndrome don't have any kidney problems. The type, degree and progression of hearing loss can also be different. This variability is even true for members of the same family.

References
  • Branchiootorenal/branchiootic syndrome. Genetics Home Reference website. ttp://ghr.nlm.nih.gov/condition/branchiootorenal-syndrome
  • Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/
What can I do for siblings of kids with branchiootic syndrome?

When infants and children have a chronic disorder like branchiootic disease, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

References
  • Barrera M. Siblings of Children with Rare Diseases are Psychosocially Vulnerable. [PowerPoint]. Vancouver, BC: Sibling Appreciation Day Children's Organ Transplant Society & Rare Disease Foundation; 2012. https://s3.amazonaws.com/childrensots/Siblings-Vancouver-2012_final.pdf
  • Houtzager BA, Oort FJ, Hoekstra-Weebers JE, et al. Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol. 2004;29(8):591-605. http://jpepsy.oxfordjournals.org/content/29/8/591.long
Do children with branchiootic syndrome need to see the doctor regularly?

Individuals with branchiootic syndrome should receive an evaluation for hearing loss. They should receive a follow up examination twice a year and once a year receive a test called an audiometry, which evaluates a person's ability to hear sounds.

References
  • Branchio Oto Renal Syndrome. The National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/branchio-oto-renal-syndrome/
  • Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/
Are there early intervention programs for branchiootic syndrome?

Infants with branchiootic syndrome show symptoms within the early stages of life. The first few years of a child's life are critically important to a child's development. Children who experience hearing loss at a young age can benefit from such programs as hearing loss can affect speech development and learning. States have federally-funded early intervention programs that support families that have concerns or issues with their children's development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provides information about early intervention programs and assistance.

References
If my child didn't get branchiootic syndrome from one of their parents, why is it called a genetic disorder?

This is very common question about a lot of genetic disorders. Branchiootic syndrome is called a genetic disorder because we know it is caused by a change or mistake in the body's genetic instructions. Children with branchiootic have a gene change affecting either the EYA1 , SIX1 or the SIX5 gene. However, just because a disorder has a genetic cause that does not mean that the disorder is inherited. Sometimes mutations, or gene changes, are passed through families. However, other times mutations can also happen at random. Most children inherited the disorder from an affected parent. A small percentage do not inherit the disorder. The gene change that affects them happens randomly for no known reason. This is known as a de novo mutation.

In rare instances, there are other causes of branchiootic syndrome besides a gene mutation. There has been a report of a pericentric inversion of chromosome 8 causing the disorder. A pericentric inversion means that a piece of chromosome 8 breaks off and reattaches to the chromosome in the wrong spot. This abnormal segment includes the EYA1 gene. There are also reports of a partial duplication causing branchiootic syndrome. This means a portion of a chromosome is duplication so there is extra material.

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes named X and Y, differs between males and females and usually determines if we are a boy or girl. Autosomes are numbered 1-22, from largest to smallest. Each chromosome has 2 parts, called the long arm and the short arm. The long arm is called "q" and the short arm is called "p". Both arms of all chromosomes are further divided into light and dark colored bands that are labeled by numbers. The further away from the centromere (the section that connects the p and q arms) the higher the number. The labeled bands help everyone stay consistent in discussed specific parts of the chromosome. Chromosomes can contain hundreds of thousands of genes.

Talk to a genetic counselor to learn more about the genetics of branchiootic syndrome. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Dantas VG, Freitas EL, Della-Rosa VA, et al. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. Int J Audiol. 2015;54(9):593-8.
  • Schmidt T, Bierhals T, Kortüm F, et al. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8. Cytogenet Genome Res. 2014;142(1):1-6.
  • Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/
  • Branchiootorenal/branchiootic syndrome. Genetics Home Reference website. ttp://ghr.nlm.nih.gov/condition/branchiootorenal-syndrome
How do children with branchiootic syndrome do in school?

Children with branchiootic syndrome can attend school. They may attend a special school or be in a class for children with hearing loss. Children with branchiootic syndrome may need special accommodations. Because they may need special accommodations in school, they may eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on branchiootic syndrome and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

References
How do children with branchiootic syndrome go from pediatric care to adult care?

Some people with branchiootic syndrome find it challenging when it's time to move (transition) from pediatric to adult care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and yourself. It can feel like 'starting over' as you'll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and any medications. They must bear greater responsibility for decisions concerning their health. Some hospitals have programs to help children with chronic disease transition to adult care services. Talk to your child's doctor about how and when to take steps to begin transition to adult care.

References
  • Transition to Adult Care. New England Consortium of Metabolic Programs website. http://newenglandconsortium.org/for-professionals/transition-to-adult-care/
Will my child outgrow branchiootic syndrome?

Branchiootic syndrome is a genetic condition and there is no cure. A person will never outgrow the disorder. People with branchiootic syndrome will receive periodic evaluations to see whether the disorder progresses, (hearing loss gets worse, etc.).

References
  • Branchio Oto Renal Syndrome. The National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/branchio-oto-renal-syndrome/
Is diet and nutrition important in branchiootic syndrome?

Eating right and getting proper nutrition is important for everyone. Physicians encourage people with branchiootic syndrome to exercise and eat healthy. There are no dietary restrictions for people with branchiootic syndrome Individuals and families dealing with a diagnosis of branchiootic syndrome should talk to their medical team about eating right and proper nutrition.

If I have branchiootic syndrome, are there any medications I should avoid?

Individuals who have branchiootic syndrome (BOS) should talk to their doctor and make sure their doctor is aware they have the condition before getting any prescription medications. It is important for people with BOS to avoid medications that might cause kidney complications. Speak with your doctor or pharmacist about risks associated with any medications.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me