ABSTRACT
BACKGROUND:
Joubert
syndrome (JS) is a rare, autosomal recessively inherited
genetic disorder characterized morphologically by unique developmental malformations of the
cerebellum and
brainstem (the
molar tooth sign), and clinically by impaired motor functions and
intellectual disability.
Patients with JS often
face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized.
METHODS:
We performed comprehensive neurological and neuropsychological evaluations in three
adult brothers with JS, ages 32, 27, and 25 years.
RESULTS:
They all exhibited impaired motor control, global developmental delay most evident in
executive function,
affect regulation, and
social skill set, and
similar patterns of neuropsychiatric symptoms.
CONCLUSIONS:
These findings provide new insights into the intellectual and neurobehavioral
phenotype of JS, which we regard as a developmental form of the cerebellar cognitive affective / Schmahmann
syndrome (CCAS). These observations have direct
clinical relevance for the
diagnosis and care of
patients with JS, and they help further the
understanding of the multiple manifestations of atypical cerebrocerebellar development.
