Chromosome 18 Clinical Research Center

Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test

Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered

evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history

neurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses

MRI of the brain - standard clinical procedure

Genetic evaluation with picture and measurements, physical exam

physical examination including observation of balance, coordination and reflexes.

Visual detal inspection with panorex X-ray of the entire mouth

Standardized speech \& language tests and naturalistic assessment procedures.

Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained

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

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.

physical exam and medical history by board certified gastroenterologist.