Language, behavior and neurodevelopment in Joubert syndrome: a case report

Area of Science:

• Genetics
• Neurology
• Developmental Biology

Background:

• Joubert syndrome (JS) is a rare, heterogeneous genetic ciliopathy.
• Over 20 genes are linked to JS, presenting with hypotonia, ataxia, and respiratory issues.

Observation:

• This study details the language and neurodevelopmental profile of an individual with JS.
• Evaluations included clinical genetic assessment, language assessments (DDST-II, ELMS), and MRI brain imaging.

Findings:

• MRI revealed cerebellar vermis hypoplasia, a "molar tooth sign", brainstem hypoplasia, and cerebellar atrophy.
• The individual exhibited severe receptive and expressive language disorder, with significant delays in motor and self-care domains.

Implications:

• Early neuroimaging and genetic evaluation are crucial for diagnosing JS.
• Accurate diagnosis facilitates personalized treatment planning to mitigate the syndrome's effects.