Fragile X Clinic

Kennedy Krieger Institute • 716 North Broadway • Baltimore, MD 21205

Director:

Dejan Budimirovic, MD

About Our Program:

The goal of the Fragile X Clinic is to provide a comprehensive array of testing and evaluation services for children and adults with Fragile X syndrome and Fragile X-Associated Disorders (FXD), as well as provide referral services as necessary. Kennedy Krieger's Fragile X Clinic is a member of the Fragile X Clinical and Research Consortium (FXCRC).

Kennedy Krieger Institute's Fragile X Clinic is a multidisciplinary program geared toward providing the most comprehensive evaluation and treatment services for children and families with Fragile X-Associated Disorders (FXD). The clinic is a founding member of the Fragile X Clinical and Research Consortium, the network of Fragile X clinics in North America.

Services We Offer:

The Fragile X Clinic offers the following types of appointments:

  • Record review
  • Team evaluation (neuropsychology, speech and language, psychiatry, neurology), including a wrap-up meeting with follow-ups available
  • Appointments can also be made for the following services, by request:
    • Audiology
    • Augmentative Communication
    • Behavioral/Psychological Service
    • Family Training/Support
    • Medical/Developmental Evaluation
    • Medication Consultation
    • Neurology
    • Nursing Services
    • Occupational Therapy
    • Physical Therapy
    • Psychiatric Evaluation
    • Speech Therapy

We also provide referrals for: genetic testing/counseling, cardiology, ophthalmology, etc.

What to Expect:

We hope that the following information will be helpful to you as you plan your visit to the Fragile X Clinic:

  • Prior to scheduling an appointment, relevant documents will be reviewed in order to determine how the Fragile X Clinic can best serve the needs of your child. These documents include, but are not limited to, the following:
    • Lab results of child's Fragile X test
    • Lab results of Fragile X tests of any other tested family members
    • Reports from any psychological evaluations of the child
    • Reports from any cognitive evaluations of the child
    • A list of support services (occupational therapy, physical therapy, etc.) the child is currently receiving
    • A list of the child's current and past medications
    • Reports from the child's ophthalmological evaluations
    • The child's most recent IEP or school records
    • Other medical records, as relevant

    For any questions about appropriate documents, contact the Clinic Coordinator

  • If you are traveling from out of town, please make arrangements for lodging. Notify the hotel in advance that you are being seen at the Kennedy Krieger Institute in order to receive a discount. The following hotels are located within close proximity to the clinic:
  • The Fragile X Clinic in the Center for Genetic Disorders of Cognition & Behavior is located at Kennedy Krieger Institute's new clinical research building at 716 North Broadway, across from the main Kennedy Krieger building. Please use the following link for directions.
  • Assessments at the Fragile X Clinic are tailored to your child's specific needs, and therefore differ based upon individual circumstances. A full, comprehensive assessment protocol at the clinic requires two days, whereas consultations for medication adjustment or record review typically require a few hours. After reviewing your relevant documents, a clinician at the Fragile X Clinic will determine what appointment or appointments are best suited for your situation.

Our Staff:

Dejan B. Budimirovic, MD

Medical Director, Fragile X Clinic, Kennedy Krieger Institute
Attending Pediatric Psychiatrist, Kennedy Krieger Institute
Co-Investigator/Physician, The Institute’s Center for Clinical Trials
Assistant Professor, Department of Psychiatry & Behavioral Sciences
Johns Hopkins University School of Medicine

Dr. Budimirovic received his medical training at the Belgrade University School of Medicine (Magna Cum Laude). After completing residencies in adult and child psychiatry at Harvard and New York University, Dr. Budimirovic was appointed assistant professor of psychiatry at Yale University School of Medicine. While at Yale, he cultivated a research interest in psychiatric disorders among children and adolescents. Over the last twelve years, Dr. Budimirovic has contributed to various research initiatives. Since his arrival at the Kennedy Krieger Institute in November 2004, he has significantly contributed to the expansion of clinical activities at the Fragile X Clinic. He now serves as the Clinic’s Medical Director. Moreover, the Clinic, a founding member of the Fragile X Clinic & Research Consortium (FXCRC), has been selected as the site for two active multi-site clinical trials for which Dr. Budimirovic is the main co-investigator/physician:

  • The phase III, pivotal clinical trial of STX209 (Arbaclofen) for the treatment of social withdrawal in adults, adolescents and children with FXS, sponsored by Seaside Therapeutics, Inc., and
  • The phase II clinical trial of a mGluR5 antagonist (FRAGXIS NP 27936) for the treatment of social withdrawal in adults and pediatric populations with FXS, sponsored by Hoffmann-La Roche Ltd.

In addition, Dr. Budimirovic is also Principal Investigator on three projects: Fragile X Clinical and Research Cooperative Consortium Registry and Repository (JHH IRB NA_00028362); Fragile X Clinic Pharmacological Database (JHH IRB N_00069920), which will establish a database at the Institute for the purpose of future research; and Early Signs of Fragile X Syndrome (JHH IRB N_00072204), a multisite project which aims to identify early clinical signs of FXS for the purpose of facilitating an earlier genetic diagnosis of FXS.

Dr. Budimirovic is board certified by the American Board of Psychiatry and Neurology in the subspecialty of child and adolescent psychiatry. He is a member of the Directors of the FXCRC, and active member of the American Academy of Child and Adolescent Psychiatry.

Rebecca Hinton
Fragile X Clinic and Research Coordinator
Center for Genetic Disorders of Cognition & Behavior
Kennedy Krieger Institute

Becky received her B.S. in psychology from the University of Maryland in May 2009, and expects to receive her M.S. in clinical psychology from Loyola University Maryland in May 2012. She began working in the Center for Genetic Disorders of Cognition & Behavior as a Research and Clinic Coordinator in September of 2011. She is currently involved with managing the Fragile X Clinic, as well as coordinating the Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Withdrawal in Children with Fragile X Syndrome.

Recruiting Studies:

Recent Publications:

Budimirovic, D.B., Kaufmann, W.E., (2011) What Can We Learn about Autism from Studying Fragile X Syndrome? Developmental Neuroscience. DOI: 10.1159/000330213

Marschik, P.B., Kaufmann, W.E., Einspieler, C., Bartl-Pokorny, K.D., Wolin, T., Pinid, G., Budimirovic, D.B, Zappella, M., & Sigafoos, J. (2012). Profiling Early Socio-communicative Development in Five Young Girls with the Preserved Speech Variant of Rett Syndrome. Research in Developmental Disabilities, 33, 1749–1756.

Marschik, P.B., Sigafoos, J., Kaufmann, W.E., Wolin, T., Talisa, V.B., Bartl-Pokorny, K.D., Budimirovic, D.B., Vollmann, R., Einspieler, C. (2012). Peculiarities in the gestural repertoire: An early marker for Rett syndrome? Research in Developmental Disabilities, 33(6), 1715-1721.

Hinton, R., Budimirovic, D.B., Marschik, P.B., Talisa, V.B., Einspieler, C., Gipson, T., Johnston, M.V. (2012). Parental Reports on Early Language and Motor Milestones in Fragile X Syndrome with and without Autism Spectrum Disorders. Developmental Neurorehabilitation. In press. 

Contact:

Rebecca Hinton, BS
Clinic Coordinator
Phone: (443) 923-7619
Fax: (443) 923-7696
E-Mail: FragileX@kennedykrieger.org

Fragile X Syndrome Family Resources:

Web Sites:

The National Fragile X Foundation
[http://www.fragilex.org/]

Conquer Fragile X Foundation
[http://www.conquerfragilex.org/]

FRAXA Research Foundation
[http://www.fraxa.org/]

NIH Office of Rare Diseases
[http://rarediseases.info.nih.gov/]

National Organization for Rare Disorders
[http://rarediseases.org]

The National Fragile X Foundation
[http://www.fragilex.org/]

Articles in the News:

Fragile X Syndrome: Awareness Coming of Age (Pediatric News, May 2008)

Suggested Reading:

Schopmeyer, Betty and Fonda Lowe. The Fragile X Child. San Diego: Singular, 1992.

Hagerman, Randi J. and Paul J. Hagerman. Fragile X Syndrome: Diagnosis, Treatment, and Research. Baltimore: The Johns Hopkins University Press, 2002.

Weber, Jayne D. Children with Fragile X Syndrome: A Parents’ Guide. Bethesda: Woodbine, 2000.

Dew-Hughes, Denise. Educating Children with Fragile X Syndrome: A Multi-Professional View. New York: RoutlededgeFalmer, 2002.

Parker, James N. and Philip M. Parker. The 2002 Official Patients’ Sourcebook on Fragile X Syndrome. San Diego: Icon Group International, 2002.

Related Materials and Information
Primary Diagnoses Served: