Joubert Syndrome with Intellectual Disability: The First Documented Case from the United Arab Emirates
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Joubert syndrome represents a rare autosomal recessive ciliopathy affecting approximately 1 in 80,000 to 100,000 live births worldwide, though prevalence reaches 1 in 5,000 births in the United Arab Emirates due to high consanguinity rates. The syndrome manifests through a constellation of neurological and systemic abnormalities, with cerebellar vermis agenesis producing the pathognomonic "molar tooth sign" on magnetic resonance imaging of the midbrain. We present a 28-year-old female with Joubert syndrome and comorbid mild intellectual disability (Full-Scale IQ 58), representing the first documented case with comprehensive neuropsychological assessment and intellectual disability evaluation in the United Arab Emirates. This report examines the patient's neurodevelopmental trajectory, cognitive profile, adaptive functioning, and management challenges within a psychiatry-focused framework. The case underscores the critical importance of multidisciplinary psychiatric and psychosocial support in addressing the complex neurobehavioral needs of adults with Joubert syndrome.
