An Interview with Dr. Connie Smith-Hicks, Director of the Center for Synaptic Disorders at the Kennedy Krieger Institute

Dr. Connie Smith-Hicks, Director

We recently had the pleasure of meeting with Dr. Connie Smith-Hicks, Director of the Center for Synaptic Disorders at the Kennedy Krieger Institute in Baltimore, Maryland, to talk about the Synaptopathies clinic and the services it provides to patients with neurodevelopmental disorders including STXBP1-related disorders. Here’s a recap of our informative conversation.

STXBP1 Foundation: What would you want families and caregivers to know about the Synaptopathies clinic?

Dr. Smith-Hicks: The Synaptopathies clinic is a patient centered interdisciplinary clinic that provides comprehensive evaluation and clinical care. It is our goal to help each of our patients, and their family members, gain a better understanding of their condition and access appropriate medical and therapeutic interventions to improve their overall health and quality of life. The care team is comprised of our clinic coordinator, nurse coordinator, neurologist, epileptologist, neuropsychologist, behavioral psychologist, genetic counselor, and social worker. We refer patients for additional care within and outside of the Institute as needed.

We provide expert care for children with developmental challenges related to changes in several synaptic genes (SYNGAP1, SHANK 3 (PMD), GABRB, STXBP1, GRIN, GRIA, KCN, SCN and the SLC family of genes).

STXBP1 Foundation: What was the inspiration behind creating a multidisciplinary clinic focused on synaptopathies and what are some of the background on how the clinic developed?

Dr. Smith-Hicks: The Center for Synaptic Disorders (CSD) was developed to fill the knowledge gap created by the rapid pace at which clinical genomics identified rare genetic causes for neurodevelopmental disorders. The published literature lagged in its ability to address parent’s questions related to prognosis, effective treatments, and targeted interventions. The rarity of many of these disorders and dispersion across physicians further compounded these challenges. The CSD houses a clinical program and a research arm. There are three main clinical programs, of which the Synaptopathies clinic is one. The clinical programs within the CSD are interdisciplinary in nature and this approach to care is driven by the complexity of the patient population and the need for holistic collaborative care.

STXBP1 Foundation: What happens during a clinic visit? What should families be prepared for?

Dr. Smith-Hicks: Our clinic coordinator connects with the family weeks in advance of the visit to request genetic test results and other medical and developmental test results that the parents may have. New patients are asked to complete a brief questionnaire to outline areas of major concerns to be addressed in the visit. One week before the visit our nurse coordinator reaches out to the family to determine their primary goals for the visit and any sensory needs or supports needed to assist the child in completing the 4-hour visit.

We then engage our child life team to provide activities that are calming for that child. The clinicians review the information provided before the visit and communicate with each other ahead of the visit as needed.

On the day of the visit patients are registered, they are then triaged, and taken to the exam room where they remain for the visit. The clinicians come to the patient in the exam room. At times it may be necessary for the patient to go for a brief walk, with a visit to the fish tank or the garden. On these rare occasions the clinician completes the visit in these quiet areas. The content of the visit is discipline specific but involves observation and examination of the patient and interviewing of the parent.

STXBP1 Foundation: And what age groups does the clinic service?

Dr. Smith-Hicks: We see patients across their lifespan.

STXBP1 Foundation: Do families have the opportunity to participate in research and how can they join?

Dr. Smith-Hicks: Yes, we have two ongoing research opportunities: the Brain Gene Registry and an EEG based study of sleep in NDD of synaptic origin. The latter utilizes previously acquired sleep EEGs.

If any one of your readers are interested in participating in research, they can contact CFSD@kennedykrieger.org for more information on the research opportunities.

STXBP1 Foundation: How can families contact the clinic to set up an appointment?

Dr. Smith-Hicks: They can reach the clinic to set up an appointment either by emailing geneticsclinic@kennedykrieger.org or calling 443-923-2778.

STXBP1 Foundation: Is there anything else you want the STXBP1 community to know about the Synaptopathies clinic or Kennedy Krieger?

Dr. Smith-Hicks: We are excited for the opportunity to serve you and your family. For more information on the clinic, please visit us at Center for Synaptic Disorders at Kennedy Krieger here.