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Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation

H Allison Bender1, Charles M Zaroff, Stella Karantzoulis

  • 1Mount Sinai School of Medicine, Department of Neurology, USA. HeidiBender@aol.com

The Journal of Genetic Psychology
|April 2, 2011
PubMed

Insights

This study details the cognitive, adaptive, and behavioral challenges in a child with Coffin-Siris syndrome and epilepsy. Findings reveal significant neurodevelopmental deficits, emphasizing the need for comprehensive assessments.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Psychology

Background:

  • Coffin-Siris syndrome (CS) is a rare genetic disorder with limited understanding of its early neurobehavioral presentation.
  • Clinical features include digital hypoplasia, characteristic facial features, and frequently, callosal agenesis on MRI.
  • Epilepsy is a common comorbidity, further complicating the neurodevelopmental profile.

Observation:

  • A comprehensive neuropsychological evaluation was conducted on a 7.5-year-old child with CS and epilepsy.
  • Parental ratings assessed adaptive functioning and behavioral patterns.
  • Specific assessments included the Mullen Scales of Early Learning and the Behavior Assessment for Children (BASC-2).

Findings:

  • The child exhibited limited attentional abilities.
  • Receptive language skills (AE: 3-3) were stronger than expressive language skills (AE: 1-4).
  • Adaptive functioning was significantly impaired across all domains (Vineland Adaptive Behavior Composite AE: 1-9).
  • Behavioral observations included social deficits, stereotyped behaviors, restricted interests, and ritualistic play, without significant mood disturbances.

Implications:

  • The study highlights a diffuse pattern of neurobehavioral deficits in children with Coffin-Siris syndrome and epilepsy.
  • Multidimensional assessment techniques, including adaptive behavior evaluation, are crucial for capturing the full spectrum of developmental sequelae.
  • Further research is warranted to better understand and manage the complex needs of individuals with CS.

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