Fragile X | Emory School of Medicine

Meet our Team

Amy Talboy, MD, FAAP Medical Director

Joe Cubells, MD Psychiatrist

Walter Kaufmann, MD Neurologist

David Marcus, PhD Neuropsychologist

Jean Luan McColl, MS, CCRC Clinical Research Coordinator

Lisa Shubeck Clinical Research Coordinator

Matt Walsh, MS, CGC Genetic Counselor

What is Fragile X?

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, and the most common known single-gene mutation leading to autism spectrum disorders. FXS has a complex inheritance pattern, and features may vary widely from person to person.

Some of the varying physical features that may be present include characteristic facial features (such as prominent ears, elongated face, prominent forehead or chin, high arched palate), and poor motor coordination.

Neurodevelopmental and behavioral issues may include developmental delays, learning problems, intellectual disability, social anxiety, problems with behavioral regulation, and autistic behaviors. We are learning more about FXS and associated issues every day, through scientific advances in basic, translational, and clinical trial research.

What to Expect During your Visit

During your clinic visit, we will:

Discuss Fragile X syndrome and its associated disorders
Review your genetic results
Complete a physical and neurologic examination
Provide a comprehensive developmental assessment
Discuss the recommended healthcare guidelines for children with Fragile X syndrome
Work with you to develop an appropriate intervention plan
Discuss and prescribe medications, when indicated
Offer genetic testing for family members
Provide information on research opportunities
Make referrals to specialists if necessary
Address any concerns or questions you have

The Fragile X Syndrome Clinic at Emory

The Fragile X Syndrome Clinic at Emory serves children from birth through young adulthood. Our team includes physicians, scientists, and staff who have expertise in genetics, neurodevelopment, and neurobehavior.

Our clinical service is designed to meet the unique needs of individuals with Fragile X syndrome and their families. We provide specialized clinical services to support, complement, and augment the care provided by pediatricians, family practitioners, and other primary care providers.

Schedule an Appointment

To schedule an appointment, have your primary care doctor send in a referral.

For further scheduling information, you may call 404-778-8570.

For further information about our clinic and services please call 404-778-1363.

Address

Department of Human Genetics
1365 Clifton Road, NE, Building B, Suite 2200
Atlanta, Georgia 30322.

Research

The Fragile X Syndrome Clinic at Emory is actively engaged with the Fragile X Clinics and Research Consortium (FXCRC) affiliated with the National Fragile X Foundation. The FXCRC is actively establishing "best practice" recommendations for evaluation and ongoing care in fragile X, enrolling fragile X families into a national registry to be used for research (the FORWARD registry), and research recruitment, and building a nationwide network for collaborative research efforts.

For more information about fragile X clinical research studies currently recruiting at Emory, please contact our clinical research coordinator at 404-778-8619 or email.

For more information about the FORWARD registry, please call 404-778-8478, or email.

FORWARD—Fragile X Online Registry With Accessible Research Database

Resources for Families

The National Fragile X Foundation

Fragile X Clinical and Research Consortium

Centers for Disease Control and Prevention FXS page

FRXA Research Foundation

We gratefully acknowledge the Fragile X Association of Georgia and the Heyman Fragile X Outreach and Education Program at Emory University for their support.