The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.
Genetically confirmed diagnosis of Baker Gordon syndrome.
0-99 years
Ability to send medical records and diagnostic test results.
Ability to complete tests and questionnaires.
>18 years.
Legal caregiver of the patient diagnosed with a Baker Gordon Syndrome.
Willingness to follow study procedures, as assessed by the research team.
Willingness to sign the consent form.
Study Population: * Genetically confirmed BAGOS * 0-99 years This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, and by collecting sleep and seizure diaries. In addition, genetic and proteomic analysis, EEG recordings and brain MRI will be collected to identify biomarkers that will indicate disease progression or improvements following treatment.
Cohort
Prospective
Brain Magnetic Resonance Imaging (MRI)
Diagnostic testParticipants will undergo a 5-10 minute non-anesthesia brain MRI in order to evaluate for changes in brain structure. A 20 to 30 minutes 20 channel surface electroencephalography will be performed in the wake and sleep states.
Whole Genome Sequencing
Genetic15 milliliters of blood will be collected at the initial visit. Blood samples will be centrifuged, and plasma stored in the University of Missouri Next Gen Precision Health building. Next generation whole genome sequencing and proteomics will be performed on plasma samples. Additional blood will be collected for the DNA biobank.
Induced Pluripotential Stem Cells
Other interventionA 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.
Collection of relevant medical data (retrospective and prospective)
Collection of demographic data, BAGOS-related medical history, past medical and surgical history, current medication, history of immunizations and family medical history.
Neurological Assessment Scale
Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Clinical Global Impressions Scale - Practitioner
Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by BAGOS. One is improved and 7 denotes deterioration.
Pediatric Evaluation of Disability Inventory
Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years.
Gross motor milestones
World Health Organization (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denote worse motor function.
Global development assessment scale
Bayley Scales of Infant and Toddler Development - 4 (BSID-4) for Developmental delays. Scale is divided into five domains, which are further divided into subdomains. The first step is to calculate the starting point by beginning with the items that are age appropriate. The starting point is validated if three consecutive items are achieved. If the participant affected by Baker Gordon Syndrome does not achieve three consecutive items in a row at the age-appropriate starting point, the evaluator must go backwards to the lower age-starting point until the participant affected by Baker Gordon Syndrome achieves three items in a row. The assessment stops once five items in a row are not achieved.
Vineland Adaptive Behavior Scales Third Edition
Vineland Adaptive Behavior Scales Third Edition is the leading instrument for supporting the diagnosis of intellectual and developmental disabilities. Vineland-3 not only aids in diagnosis, but provides valuable information for developing educational and treatment plans
Aberrant behavior assessment (ABC)
Aberrant Behavior Checklist-Community (ABC-C). This scale comprises 58 items and is divided into five subdomains. The ABC-C is designed on a four-point scale with the lowest score representing less-affected patients while the highest score represents most-affected patients.
Health economics
Interview with Caregivers
Clinical trial readiness
Demographic data collection
Clinical trial readiness
Facilities Preparation
Laboratory tests
Genomic and proteomic analysis of plasma samples to determine biomarkers of disease progression
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