Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study

Area of Science:

• Neuroscience
• Genetics
• Psychology

Background:

• Neurofibromatosis type 1 (NF1) is linked to cognitive deficits in children, but adult cognitive function is less understood, especially in those without prior conditions.
• This study focuses on adults with NF1, excluding those with intellectual disability or pre-existing cognitive/psychiatric disorders.

Purpose of the Study:

• To characterize cognitive performance across multiple domains in adults with NF1.
• To investigate the relationship between cognitive function and psychological/clinical variables in adults with NF1.

Main Methods:

• A cross-sectional study involving 87 adults with NF1.
• Standardized neuropsychological assessments across seven cognitive domains.
• Questionnaires for sociodemographic and psychological variables.

Main Results:

• Adults with NF1 performed below age-adjusted normative means in several cognitive domains.
• Clinically significant impairment was observed in executive function (z = -2.267).
• Attention was low-average (z = -1.171), with non-significant associations with clinical factors after correction.

Conclusions:

• Adults with NF1 exhibit a consistent pattern of cognitive underperformance, suggesting a specific vulnerability.
• Routine cognitive assessment and targeted support are crucial for improving care.
• Integration of cognitive and psychosocial support into genetic counseling is recommended.