Cognitive outcome in children with rhombencephalosynapsis

Area of Science:

• Developmental Neuroscience
• Pediatric Neurology
• Congenital Malformations

Background:

• Rhombencephalosynapsis is a rare congenital cerebellar malformation.
• Increasingly identified through prenatal and neonatal neuroimaging.
• Cognitive outcomes in affected individuals are variable and not well-documented.

Purpose of the Study:

• To investigate neurological, behavioral, and cognitive functions in patients with non-syndromic rhombencephalosynapsis.
• To provide a clearer understanding of the functional spectrum associated with this condition.

Main Methods:

• Assessment of five patients (3 female, 2 male; mean age 8.9 years) with non-syndromic rhombencephalosynapsis.
• Utilized neurological examinations and standardized tests for behavior and cognitive functions.

Main Results:

• All patients exhibited ataxia; daily activities were mildly restricted in one.
• Common symptoms included hypotonia, abnormal eye movements, and head stereotypies.
• Behavioral issues like attention deficits and hyperactivity were noted in three patients.
• Cognitive impairment was prevalent, with only two patients achieving normal full-scale IQ scores.

Conclusions:

• Non-syndromic rhombencephalosynapsis presents with variable clinical manifestations.
• Attention deficit and hyperactivity disorders are frequent behavioral comorbidities.
• Cognitive functions are predominantly impaired, often as mild intellectual disability without a specific profile.
• Normal cognitive function is achievable, and no clear link was found between cognitive deficits and supratentorial abnormalities.