Behavioral and cognitive functioning in individuals with Cantú syndrome.

Area of Science:

• Genetics
• Neurology
• Psychiatry

Background:

• Cantú syndrome (CS) is a genetic disorder caused by variants in ABCC9 and KCNJ8, affecting ATP-sensitive potassium (K_ATP) channels.
• CS presents with physical features like hypertrichosis and edema, alongside cardiac and neurodevelopmental issues.
• Previous reports of cognitive and behavioral problems in CS were anecdotal, lacking standardized assessment.

Purpose of the Study:

• To systematically evaluate the cognitive, social, and psychiatric profiles of individuals with Cantú syndrome.
• To investigate the prevalence of autism spectrum disorder (ASD) and related behaviors in the CS cohort.
• To compare the observed symptoms between younger and adult CS patients.

Main Methods:

• Cross-sectional study involving 35 individuals with confirmed ABCC9 variants and their relatives.
• Utilized standardized assessments: Kaufman Brief Intelligence Test 2, Social Responsiveness Scale-2, and Achenbach System of Empirically Based Assessment.
• Data collected from participants aged 1 to 69 years.

Main Results:

• Most CS individuals exhibited average verbal and nonverbal intelligence.
• Fifteen percent of participants displayed social functioning indicative of an autism spectrum disorder diagnosis.
• Anxiety, attention deficit hyperactivity disorder (ADHD), and ASD-like behaviors were prevalent in younger subjects (≥25%), declining significantly in adults.

Conclusions:

• Cantú syndrome is associated with average cognitive abilities but a notable prevalence of social and psychiatric challenges.
• Autism spectrum disorder and anxiety-related symptoms are significant concerns, particularly in the pediatric CS population.
• Age-related differences in symptom presentation suggest potential developmental trajectories or improved coping mechanisms in adult CS patients.