The Chromosome 18 Clinical Research Center
The University of Texas Health Science Center at San Antonio
Summary
Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facilitate groundbreaking clinical and basic research relating to the syndromes of chromosome 18; and to provide treatments to help these individuals overcome the effects of their chromosome abnormality.
Description
Protocol Summary: The hypotheses are: 1. growth hormone (GH) deficiency in children with chromosome 18 deletions is accompanied by cognitive and microstructural abnormalities of the brain that can be ameliorated by GH treatment; and 2. the physical and behavioral findings in individuals with abnormalities of chromosome 18 are due to the genes that present in a non-diploid number. Therefore, correlation of the physical and behavioral findings with the extent of the deletion will help identify the genes involved. An understanding of the molecular mechanisms of the phenotype will provide the i…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * Must have a confirmed diagnosis of Chromosome 18 or be the parent/guardian of a child with Chromosome 18 * Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies) * General health status: good Exclusion Criteria: * Pregnant women * Dead fetuses * Prisoners * Non-viable neonates or neonates of uncertain viability
Interventions
- ProcedureDetermination of growth hormone status
Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test
- ProcedureMeasurement of growth, thyroid and sex hormone levels
Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered
- ProcedureBehavior and neuropsychometric evaluations
evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history
- ProcedureAudiological and ear, nose and throat examination
neurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses
- ProcedureMagnetic resonance imaging of the brain
MRI of the brain - standard clinical procedure
- ProcedureDysmorphology evaluation
Genetic evaluation with picture and measurements, physical exam
- ProcedureNeurology examination
physical examination including observation of balance, coordination and reflexes.
- ProcedureDental evaluation
Visual detal inspection with panorex X-ray of the entire mouth
- ProcedureSpeech pathology evaluation
Standardized speech \& language tests and naturalistic assessment procedures.
- ProcedurePsychiatric evaluation
Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained
- ProcedureOrthopedic evaluation
Physical exam by orthopedic surgeon and a dysplasia series of radiographs including AP and lateral radiographics of the feet, APs of the knees, pelvis, thoracic lumbar spine and chest, laterals of thoracic lumbar and cervical spine, lateral of the skull, AP and lateral of the forearm, bone age evaluation with radiograph of left hand
- ProcedureOphthalmologic evaluation
exam will determine visual acuity using one of the following: Snellen chart, Allen acuity, target acuity, optokinetic nystagmus (OKN), or Teller acuity depending on study participants ability level. Motility/alignment will also be determined using cover/uncover test. Pupils examined using slit lamp. Dilated fundus exam and cycloplegic refraction which will require dilating drops in both eyes. Cyclogen 1% and NeuSynephrine 2.5% are using. In children less than 6 months old, less potent mydriatrics and cycloplegics are used Cyclogel 0.5% or Tropicamide 1%. Intraocular pressure will be measured in adults and cooperative teens using applanation tonometry. A topical anesthetic will be used to perform this measurement.
- ProcedureGastrointestinal evaluation
physical exam and medical history by board certified gastroenterologist.
Locations (2)
- University Health Systems HospitalSan Antonio, Texas
- University of Texas Health Science Center at San AntonioSan Antonio, Texas