Verrecchia CADD Psychiatry Clinic
Genomic Psychiatry Consultation Service
ABOUT
PRISMA STUDY
We are enrolling children and adults with or without autism or other neurodevelopmental conditions who have had diagnostic genetic testing that showed an abnormal (also called pathogenic) result into a research study to understand how genetics can impact their healthcare
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Age range from 6 months to 90 years for the probands
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Ability to provide informed consent or a legal guardian available who can sign consent for the proband
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English fluency for the probands or their parent/legal guardian (when required) to ensure comprehension of study requirements
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The proband has genetic testing, including but not limited to chromosomal microarray testing, Fragile X testing, exome sequencing, genome sequencing, targeted sequencing, karyotype, or Fluorescence In Situ Hybridization (FISH), which has identified a pathogenic or likely pathogenic genetic variant as indicated by a report from a verified clinical genetic testing laboratory, and has met with a clinician in this regard
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Each participant has an active clinician with whom they are receiving care, if required
RECRUITMENTS
PRISMA RESEARCH PROYECT
After informed consent, an in-person, video, or telephone interview will be conducted during which time Dr. Moreno De Luca and/or Bradley Hospital research staff will ask a series of standardized questions from research interview forms about:
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Demographic
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Medical family and developmental history, and collection of images of participants to assess for dysmorphology
In addition, participants will be asked to complete the following:
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Penn Computerized Neurocognitive Battery (CNB)
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Attitudes, Perspectives, and Results of Genetic Testing in ASD- 46 question survey to help understand barriers, challenges, and opportunities of genetic testing for ASD.
We will also request that for each participant medical release forms are filled out that will give us permission to acquire medical information and records from the doctors, clinics, or hospitals where the participant has received treatment
Interview & Questionaries
PRISMA RESEARCH PROYECT
BIOSAMPLE & MRI SAMPLES
PRISMA RESEARCH PROYECT
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We will collect two tablespoons of blood for the purpose of additional testing, including potential biomarkers of their genetic conditions. Blood collection will be done by a certified phlebotomist or at a qualified external laboratory.
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People with rare pathogenic genetic changes can often have brain morphological abnormalities that may directly relate to their neuropsychiatric symptoms, we will be performing a Brain MRI to assess for anatomical changes.
Annual Follow up
PRISMA RESEARCH PROYECT
We will contact participants, parents or legal guardians of participants annually for the four years following the completion of their initial assessment on year one to review any updates.
During this interview, we will review any changes to the Demographics and Medical History form (see questionnaires). The new information collected will focus on events occurring in the intervening year regarding the participant’s medical, neurological, or behavioral symptoms.
Additional relevant medical records may be collected.
To learn more about the study and how to participate, please contact PRISMA TEAM at 404-981-212 or our email prisma@lifespan.org
RECRUITMENTS
PRISMA RESEARCH PROYECT
During the initial discussion, information will be reviewed regarding the study in the context of the consent form. Participants will then have the opportunity to ask questions.
The consent form can then be signed and returned in-person or to Bradley Hospital by courier. An addressed envelope for returning this material at the expense of the research program will be provided in the original packet
These forms will then be signed by the research staff, copied, and returned to the parent or legal guardian of the study participant.
