Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Ranked #8 Nationally by U.S. News & World Report.
Fragile X syndrome (FXS) is a genetic disorder that affects learning, behavior, and appearance.
UPMC Children's Hospital of Pittsburgh's Fragile X Center is here for people with FXS. We provide testing, treatment, support, and training.
Our goal is to improve the quality of life for children and adults with FXS and their loved ones. We do this through service, outreach, and research.
FXS is the most common inherited cause of intellectual disability.
Symptoms range from mild to severe. They can include learning and behavior challenges and can affect physical features.
FXS can affect both males and females, but it tends to cause more severe symptoms in boys.
Children with FXS — especially boys — are often on the autism spectrum.
Behavior issues can include:
A mutation of the FMR1 gene on the X chromosome is almost always the cause of FXS.
The FMR1 gene affects how the body makes a protein called FMRP. FMRP has a major role in how the brain and brain cells form.
Doctors diagnose FXS with a blood test that looks for a change in the FMR1 gene.
There are three types of changes that differ in how mutated the gene is and how severe their effects are.
Full gene changes cause FXS by turning off the FMRP protein fully.
These gene changes:
People with premutations in the FMR1 gene may reach adulthood without knowing they have a mutation.
Two health problems may appear later in life in people with the premutation.
Daughters who inherit a mutation are symptomatic carriers with a 50% chance of passing it on to their children.
Males are highly influenced by inherited changes in the X chromosome since they only have one.
Females have two X chromosomes and will likely only inherit one with an FMR1 mutation. They also randomly turn one X chromosome off in each cell, a feature called X-inactivation. This means that even a full mutation of the FMR1 gene does not affect every cell in a female.
We know how hard it can be to find help for a child with FXS. While there's no cure, there are many effective medicines and resources to help. With education and treatment, children with FXS can grow and thrive.
At UPMC Children's, our center is autism- and disability-friendly. We work hard to make your child's visit welcoming — and as stress-free as for you as we an.
Our Fragile X clinic meets with loved ones twice a month on Thursdays. We treat all mutations and all ages from infants to adults.
We also will work to align visits with physical, occupational, or speech therapists and other experts when needed.
Our services include:
UPMC Children's Hospital is an active Fragile X Clinical & Research Consortium (FXCRC) member. This nationwide network of more than 30 centers offers expert care and treatment for people with FXS and their loved ones.
Robyn Filipink, MD, who leads UPMC Children's Fragile X Center:
Our center only takes referrals from your child's PCP or a specialist.
If you're looking to visit us and enroll in managed care insurance plans, you also may need approval from either your:
We must receive all necessary referrals and forms before the first visit.
Learn more about:
To schedule a first or follow-up visit, call 412-692-5560, #3.
Other contacts after your visit:
UPMC Children's Fragile X Center is in Pittsburgh's Oakland neighborhood near UPMC Presbyterian.
UPMC Children's Oakland Medical Building
3420 Fifth Ave.
Pittsburgh, PA 15213
The FXCRC connects people with FXS to cutting-edge research projects. Working together, we're moving health care's knowledge of FXS forward.
Vibha Chauhan, PhD, UPMC Children's research coordinator, is in charge of:
Fragile X Online Registry with Accessible Research Database - Multiple Assessments for Research Characterization (FORWARD-MARCH).
There's still so much to learn about Fragile X. The FORWARD study worked to create an FXS database and registry.
As a result, clinics can now work together and share what they know. It's an invaluable resource for people of all ages with FXS.
The new FORWARD-MARCH study started in the fall of 2022, marks the next phase of this research project. This 5-year study will collect detailed data on cognition, behavior, and daily functioning. Its goal is to enroll many people who took part in the FORWARD study.
Effects of AFQ056 on Language Learning in Young Children With FXS.
Recent research has found pathways in the brain that are different in FXS.
This study uses drugs to improve the brain's flexibility which can help very young children with FXS learn to use language.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.