Frequently Asked Questions for PURA family members and our greater PURA community
What is PURA Syndrome?
PURA Syndrome is a rare neurodevelopmental genetic disorder that was first described in medical literature in October of 2014. It is caused by a mutation (spelling mistake or deletion) in one of a person’s two PURA genes. The PURA gene is located on the long arm of chromosome 5 (at position 5q31.2) and it encodes for a protein, pur-alpha, which is expressed in all tissues, including the brain, muscle, heart, and blood.
How is PURA Syndrome diagnosed?
PURA is diagnosed with Whole Genomic Sequencing (WGS) blood or mouth swab test involving the child and in some cases, both parents.
Does my child’s genetic alteration type determine my child’s clinical features or symptoms?
Currently, there is no evidence of any clear associations between mutation type and clinical features. The PURA Syndrome Foundation has developed and supports an international database (PURA Global Patient Registry) that collects, analyzes and shares this data with clinicians and researchers. Much more data needs to be collected in order for us to make predictions on the likelihood of developing certain symptoms based on mutation type.
Is my child’s genetic alteration significant?
If your child’s genetic alteration has been classified as ‘pathogenic’ or ‘likely pathogenic’, it is considered to be a diagnostic finding. If it has been classified as a ‘variant of uncertain significance,’ there is currently insufficient evidence to determine whether or not this is a disease causing genetic alteration.
What is 5q31.3 deletion syndrome and how does it differ to PURA syndrome?
The 5q31.3 deletion syndrome is very similar to PURA syndrome, but it is not exactly the same, and is much rarer. Whereas individuals with PURA syndrome have a genetic alteration that solely affects one of their two copies of the PURA gene, individuals with the 5q31.3 deletion syndrome are lacking a segment of DNA from one of their two copies of chromosome 5 (within the ‘5q31.3 cytogenetic band’). Usually, a 5q31.3 deletion affects not only one copy of the PURA gene but also some of the adjacent genetic code.
The chromosomal deletions causing the 5q31.3 deletion syndrome can vary significantly between affected individuals. Sometimes they can be small. Sometimes they can be very large, including dozens or even hundreds of other genes. No two individuals with the 5q31.3 chromosomal deletion syndrome have been found to have exactly the same deletion.
Importantly, any chromosomal deletion affecting the PURA gene will cause PURA syndrome (irrespective of how many neighboring genes it may also affect).. This means that individuals with the 5q31.3 deletion syndrome do have PURA syndrome, but we recognize that individuals with the 5q31.3 deletion syndrome tend to be more severely affected. It is most likely that some of the other genes included in an individual’s deletion may be contributing to the severity of their clinical presentation. There are a number of nearby genes that may be important in this respect.
What are the chances of having another child with PURA Syndrome?
If neither parent is found to carry the same genetic alteration in PURA when testing is performed on DNA extracted from their blood, there is a very low chance (less than 1%) of having another child with the same genetic alteration. The residual risk is due to a phenomenon known as ‘gonadal mosaicism’, in which a parent may have a cluster of cells within their reproductive organs that carries the genetic alteration in PURA (but this cannot be detected on a blood test and there is currently no effective way to test for gonadal mosaicism).
What doctors do I need to talk to?
Most children with PURA regularly consult with their Pediatrician and a Neurologist. Input from other doctors and health professionals is likely to be required, depending on your child’s needs include:
- Ophthalmologist (Eye Doctor)
- Developmental Pediatrician
- Nutritionist/Dietary professional
- Gastrointestinal Doctor
- Sleep Doctor (For those with Obstructive or Central Apnea)
- Orthopedic Doctor (Musculoskeletal complications including hip dysplasia and scoliosis)
- Pulmonologist (Lung Doctor)
- Genetic Counselor (Input may be desired from parents with respect to recurrence risks, family planning options, other concurrent genetic syndromes, etc. – but no input would be needed once the affected child is diagnosed)
- Rehabilitation Doctors (in Europe)
What therapy is beneficial for my PURA child?
Most frequent amongst our PURA population is Physical/Physio Therapy, Occupational Therapy, and Speech and Language Support. Other therapies that can be beneficial include:
- Applied Behavior Analysis (ABA) Therapy
- Aqua (swim) therapy
- Hippotherapy (Horseback riding)
- Feeding therapy
- Lite gait therapy
- Vision/eye therapy
Are there any concerns with COVID -19 and PURA?
Because some of our PURA children are medically fragile, it is important to take the same precautions with COVID 19 that you would take with any other respiratory virus.
How will PURA syndrome affect our family’s daily life?
Daily living and care can include: feeding, bathing, dressing, toilet assistance, medical care and behavioral assistance. Parents may need to help their child walk or lift and carry their child. Your family and your child may need to learn verbal or non-verbal cues, or use a communication device in order to communicate with your PURA child. With time and support, you will learn how to find the right medical professionals, schedule appointments and therapies, search for the right schools, and necessary equipment. It would be best to reach out to us and connect with other parents who are in similar situations.
Where can I find more information?
- The Research page on this website has information for your doctors on current research and developments.
- Our Annual PURA Conference has hosted many speakers on various topics that could be helpful to families in their search for information as well.
- Contact the PURA Syndrome Foundation at firstname.lastname@example.org
- Follow the PURA Syndrome Foundation on Facebook and Instagram.
What can I do to help further PURA Syndrome research?
- If you have an immediate family member with PURA, we encourage you to fill out the PURA Syndrome Global Patient Registry. The more of us that take the time to fill out the PURA Global Patient Registry, the more tools we will give our researchers to understand and help our PURA loved ones.
- Donations to the PURA Syndrome Foundation help further our mission to support research of, raise awareness for, and serve and educate families impacted by PURA Syndrome.
How can I describe PURA Syndrome to the people around our child?
- Depending on who you are speaking to, a few simple facts about PURA Syndrome can be helpful. If you find the person would like to know more, there is certainly more information available to them, however these simple facts might be helpful when put on the spot:
- It is a genetic condition that can cause medical issues and delays in development and learning.
- Individuals with PURA syndrome can enjoy many of the same things as other children.
- Individuals with PURA express their feelings with sounds, and movements that may be atypical.
Where can I find support?
- Join our Parents of PURA Syndrome (POPS) page on Facebook
- Reach out to our family coordinator (email@example.com) or the ambassador for your country (include contact information for ambassadors)
- Our Annual PURA Conference has hosted many speakers on various topics that could be helpful to families in their search for support as well.
When is the PURA Syndrome Conference?
Our annual conference is held each year sometime in the month of June. Follow the PURA Syndrome Foundation on Facebook and/or Instagram, or check our PURA Syndrome Conference website for updates.