Our Medical Advisory Board Members answered your questions — each in their area of expertise – and we wanted to post them here for your reference – ASK THE EXPERT!
Prof. Anne Bassett
Psychiatrist
Medical Director, International 22q11.2 Foundation
Toronto, Canada
QUESTION:
As a parent, who will take care of my loved one with 22q and complex care needs when I am no longer able? (as a patient, who will take care of me)
ANSWER:
It is always a great idea to plan for the future of your loved one, as best as possible, when you are able to do so. Here are some general tips to help.
- Have open, honest and developmentally appropriate conversations about wants and support needs with your loved one. Include, as appropriate, informal (e.g., family and friends) and formal (e.g., community support staff, medical professionals) supports (the “circle of care”) in the conversations. Revisit and modify these advance care plans, as needed (e.g., as the “circle” changes over time).
- Educate yourself about who your loved one’s substitute decision maker is now, and who would be best to take on that role in the future.
- Educate yourself about community-based and government funding, supports and services available to your loved one. Connect with local agencies, ask questions, and advocate for supports. Revisit this periodically, as the supports and services change over time.
- Connect with a legal clinic that specializes in supporting people with disabilities and their families. For the person with 22q who asks about this, reassurance that they will be taken care of will be important. As will knowing who is in their circle of care.
Dr. Patricia Beals
Craniofacial Orthodontist
Phoenix, USA
QUESTION:
Why does my child always have cavities?
ANSWER:
There are many contributors to cavities, sugary nutrition, dry mouth, poorly formed enamel, and avoidance of brushing. Try drinking fluoridated water after nutrition, using a fluoridated rinse, and chewing sugarless gum to promote salivation and help clean tooth surfaces.
Dr. Madeline A. Chadehumbe
Pediatric Neurologist
Philadelphia, USA
QUESTION:
What is my risk of seizures related to 22q11.2DS?
ANSWER:
The prevalence of epilepsy is 10-30% compared to 1% in the general population. It is important to consider checking for calcium as this can be a trigger. Febrile seizures are the most common seizure type.
LINKS:
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome
Prof. Richard Kirschner
Pediatric Plastic Surgeon
Columbus, USA
QUESTION:
Can velopharyngeal dysfunction (hypernasal speech) be treated by speech therapy alone?
ANSWER:
No. Although speech therapy is essential to the treatment of articulation errors in 22qDS, velopharyngeal surgery is necessary to treat velopharyngeal dysfunction.
LINKS:
Dr. Michele Lambert
Pediatric Hematologist
Philadelphia, USA
QUESTION:
What’s up with nosebleeds in 22q?
ANSWER:
Nosebleeds are common: nasal allergies, velopharyngeal insufficiency, and frequent colds all increase the risk (because the nose gets irritated). Hydrate with saline spray, cool mist humidifier, and Vaseline (at nares) and keep fingers/tissues out.
Prof. Maria Mascarenhas
Pediatric Gastroenterologist, Nutrition Pediatrician, and Integrative Health
Philadelphia, USA
QUESTION:
How do doctors decide when to treat gastroesophageal reflux?
ANSWER:
Treatment is recommended when children have pain, irritability, excessive vomiting/spitting up that leads to poor weight gain, food refusal, swallowing problems, recurrent choking or pneumonias and interrupted breathing or apnea.
Prof. Donna McDonald-McGinn
Genetic Counselor
Philadelphia, USA
QUESTION:
ANSWER:
LINKS:
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Practical Guidelines for Managing Adults with 22q11.2 Deletion Syndrome
Prof. Bernice Morrow
Basic Science Geneticist
New York, USA
QUESTION:
Why do researchers use mice to study human genetic conditions?
ANSWER:
It is not ethically possible to study human embryos so we use mice as a mammalian model system. Although mice are so different than us, many of the organs including the heart are quite similar to ours. We can model 22q11.2 deletion syndrome in mice by generating deletions of different sizes. Then we can understand how the genes in the 22q11.2 region affect embryonic development.
QUESTION:
Why is it important to understand why some people with the deletion have mild medical problems while others are very ill?
ANSWER:
For individuals affected with 22q11.2 deletion syndrome, there are genetic DNA changes and environmental factors that affect the developing baby in the mother’s womb. For genetic DNA changes, labs are performing sequencing of the whole genome. Once we identify genes that alter the overall severity of medical symptoms, it may be possible to better predict eventual health outcomes during adulthood.
Dr. Edward Moss
Neuropsychologist
Pennsylvania, USA
QUESTION:
How can my child get help in school?
ANSWER:
All children affected by 22q11.2DS require a personalized Individual Education Plan (IEP), which is updated annually by the special education team. The team includes parents, and must also include the child, once they reach middle school and high school age. In this way, everyone’s concerns are heard and respected. The special education classification of Other Health Impairment (OHI) is almost always most appropriate for children affected by 22q11.2D, as it takes into account all their complex and varied medical needs.
Dr. Sólveig Óskarsdóttir
Pediatrician
Goteborg, Sweden
QUESTION:
My child has a lot of respiratory infections. What can I expect in the future?
ANSWER:
Most children get better before school starts. Some have continuous problems with ear infections, and in a minority the immunodeficiency continues into adulthood.
Prof. Peter Scambler
Basic Science Geneticist
London, United Kingdom
QUESTION:
Neither my partner nor myself have the deletion, but we have had a child with the deletion. Does this mean we are at increased risk of having a second child with 22q11.2DS?
ANSWER:
The short answer is no. By way of caveat the more complicated answer is that there may be a small number of parents who have a variation in the structure of their chromosome 22 that could in theory predispose to a full deletion in offspring. This is an area of future research, but in any case associated risks are still likely to be small overall.
Cynthia Solot, MA, CCC-SLP
Speech-Language Pathologist
Philadelphia, USA
QUESTION:
When will my child talk?
ANSWER:
Children with 22q often speak late and have ongoing speech and language concerns. Speech and language therapy plays a critical role in management of speech, language, learning, palate and voice concerns throughout childhood.
LINKS:
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management
Prof. Kathleen Sullivan
Immunologist
Philadelphia, USA
QUESTION:
Can people with 22q11.2 deletion safely receive the COVID vaccine (and do they respond)?
ANSWER:
Yes- people with 22q11.2 deletion syndrome can safely receive the vaccine. If the person has seizures that have been difficult to control or heart disease that is considered unstable, the person should check with their specialist managing the seizures or heart disease. In terms of how effective the vaccines are in 22q11.2 deletion, the vaccine has been shown to be effective across a range of immune deficiencies including people who don’t respond to other vaccines.
LINKS:
Prof. Kathleen Sullivan
Immunologist
Philadelphia, USA
QUESTION:
What is autoimmune arthritis?
ANSWER:
Autoimmune arthritis is called juvenile idiopathic arthritis (JIA) or juvenile rheumatoid arthritis (JRA) in children, and rheumatoid arthritis in adults.
JIA is thought to occur in 2% of children with 22q11.2 deletion syndrome. This condition causes joints to be inflamed and stiff, and any joint can be affected. In severe cases, JIA can limit the movement of the joints.
In the Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome:
- JIA is mentioned under “Musculoskeletal” on page 11. There are a number of reference links in that paragraph.
In the Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome:
- Persisting JIA is mentioned under “Skeletal” on page 11. There are also a number of reference links in that paragraph.
LINKS:
The following medical institutions offer information about JIA:
Dr. Jacob Vorstman
Child and Adolescent Psychiatrist
Toronto, Canada
QUESTION:
Should I push or protect my child in school?
ANSWER:
A healthy balance between your child’s abilities and the academic/social demands is key.The psychiatric vulnerability in 22q11.2DS warrants erring on the side of caution to avoid chronic stress.
Donate Today
At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.