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Event Related Potentials (ERPs) and other EEG Based Methods for Extracting Biomarkers of Brain Dysfunction: Examples from Pediatric Attention Deficit/Hyperactivity Disorder (ADHD)
10:02

Event Related Potentials (ERPs) and other EEG Based Methods for Extracting Biomarkers of Brain Dysfunction: Examples from Pediatric Attention Deficit/Hyperactivity Disorder (ADHD)

Published on: March 12, 2020

Can specific deficits in executive functioning explain the behavioral characteristics of CHARGE syndrome: a case

Jude Nicholas1

  • 1Vestlandet Resource Center, Bergen, Norway. jude.nicholas@statped.no

American Journal of Medical Genetics. Part A
|January 8, 2005
PubMed

Insights

This case study examines a 12-year-old girl with CHARGE syndrome who experienced academic and psychosocial challenges. Neuropsychological assessment revealed significant executive dysfunction, highlighting the need for targeted interventions.

Area of Science:

  • Pediatric Neurology
  • Neurodevelopmental Disorders
  • Clinical Case Study

Background:

  • CHARGE syndrome is a complex genetic disorder with diverse clinical manifestations.
  • Early identification of developmental challenges is crucial for effective management.
  • Executive functions are critical for academic and social functioning in children.

Observation:

  • A 12-year-old girl with CHARGE syndrome presented with asymmetrical ventriculomegaly on neuroimaging.
  • Academic and psychosocial difficulties were reported by her parents and teachers.
  • Neuropsychological testing indicated significant executive dysfunction, particularly in attention.

Findings:

  • Executive dysfunction, including attention deficits, was identified in the CHARGE syndrome patient.
  • A correlation between executive deficits and reported academic/psychosocial problems is suggested.
  • The case underscores the link between neurodevelopmental profiles and functional outcomes.

Implications:

  • Routine evaluation of executive function is recommended for children with CHARGE syndrome.
  • Early identification of executive deficits can guide personalized educational and therapeutic interventions.
  • This approach facilitates timely support, improving quality of life for affected children.

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