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Clinical Assessment

One of the major goals of the research center is to understand precisely how a change in chromosome 18 affects health and development. If eligibility criteria is met, you will be contacted and offered the opportunity to travel to San Antonio and be evaluated by our research team. We bring families to San Antonio to have them evaluated by our research team. Each family is evaluated by the same team of professionals using the same sets of tests and procedures. By using a standardized approach to evaluating participants, we ensure that we are getting the most reliable results possible.


In order to be eligible for the series of clinical studies, participants must have completed all the steps in enrollment, including providing a blood sample amongst other steps in the evaluation process.

Unfortunately, even if a family has provided blood samples and all the other documentation we request at enrollment, we cannot guarantee them a visit to our research center. Eligibility depends on our current funding as well as project priorities. If your family is eligible to come to San Antonio, our participant coordinator will contact you.

Clinical Assessment

Participants will undergo numerous evaluations if they come to San Antonio for assessments. Even if the study participant has already been in a similar evaluation process in his or her hometown, we repeat the evaluation process in San Antonio. Possible evaluations include:

  • MRI
  • Endocrinology
  • Orthopedics
  • Ophthalmology
  • Genetics
  • Neuropsychology
  • Hearing
  • Gastroenterology
  • Neurology
  • Dental
  • Speech and Language
  • GAIT Lab
  • Psychiatry

Learn more purpose and procedures of the evaluations


Participants will receive copies of the reports from the visits with the specialists at the Chromosome 18 Clinical Research Center. These reports may be provided to the individual’s health care team to help in the management of medical and developmental concerns.

Not eligible for clinical studies?

We are frequently asked whether our team of collaborators will see patients who are not eligible for one of the clinical studies. Our investigators do see patients on a non-research basis and will be happy to see you in their individual clinics. However, it is important to understand that the Chromosome 18 Clinical Research Center will not cover the cost of these visits. As with other specialists that your child might see, you will need to check that your insurance will cover the costs. This might require your child’s primary care provider to complete a referral to the provider in San Antonio. When setting up these appointments, you will need to tell both the provider and the insurer that this will be a CLINICAL VISIT and not a “research visit”. Your child’s physician in your hometown will receive a clinical summary from each appointment.

Please keep in mind that, if you seek an appointment with a provider in San Antonio, the results of the evaluation will not automatically be made available to the Research Center. If you would like the information of those visits to become part of the Research Center’s data base, then we will need your permission to obtain those records for every doctor seen. This can easily be done by filling out a medical record release form as you see each of these providers.

Although you will be responsible for all costs associated with a visit to San Antonio, the staff at the Research Center may be able to provide you with some assistance. If you are already enrolled in our Primary Research Study, we can:

  1. Review your child’s records and determine which specialists would be most appropriate
  2. Coordinate the visit so that multiple specialists can be seen in a timely fashion
  3. Make suggestions about hotels and tourist attractions
  4. Provide directions and other instructions to get to the appointments.

Collaborators who see private patients in their clinics

(Ear, Nose and Throat)
Brian Perry, M.D.
Includes an ENT examination and possible ABR/audiology testing, as ordered by Dr. Perry.

Jane Lynch, MD
Includes an endocrinology examination and appropriate endocrinology blood work, which may include growth hormone stimulation testing and bone age X-rays.

Neuropsychology testing
Louise O’Donnell, Ph.D.
Includes neuropsychology testing appropriate for child’s age and could also include interviews of parents or guardians.

Pediatric Neurology
Sidney W. Atkinson, M.D.
Consists of a very thorough neurology examination.

Allergy and Immunology
Edward Brooks, M.D.
Includes a thorough evaluation of the history of exposures and allergies.

Martha Schatz, M.D.
Includes acuity testing as well as an evaluation of the eyes.

These providers could become your child’s treating specialists, if you so wish. This differs from research-funded evaluations, in which our providers can only make treatment recommendations.

If you have any questions about this information, please call or email our Participant Coordinator, Catherine McCarthy,