Memory and Learning in Children with 22q11.2 Deletion Syndrome: Evidence for Ventral and Dorsal Stream Disruption?

Abstract

This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). An overall verbal better than nonverbal memory pattern was evident on the Test of Memory and Learning (TOMAL), with children with 22q11.2 DS performing significantly below their siblings and children with low average IQ but similar to children with autism on facial memory. Children with 22q11 DS also performed significantly below their siblings on tests of verbal working memory. Children with autism performed significantly poorer than the siblings of children with 22q11.2 DS only on their recall of stories. Delayed recall was significantly poorer in children with 22q11.2 DS and children with autism, compared to sibling controls. Although there were no significant group differences on tests of multiple trial verbal or visual learning, a relative weakness was noted with multiple trial visual learning in children with 22q11.2 DS and their siblings, suggesting that an alternative or interactive factor other than the deletion may account for the relatively better verbal compared to nonverbal memory abilities. Deficits in facial memory in children with both 22q11.2 DS and autism suggest disruptions in ventral temporal pathways such as between fusiform gyrus and parahippocampal/hippocampal regions whereas deficits in verbal working memory in children with 22q11.2 DS implicates dorsolateral prefrontal regions, both intimating aberrant white matter pathways.

Keywords:

• neuropsychology;
• memory;
• 22q11 Deletion Syndrome;
• velocardiofacial syndrome;
• autism;
• genetics

Acknowledgments

This research was partially funded by the National Academy of Neuropsychology (NAN) Grants Program, (RLO and IB), the Rita Rudel Award, Rita Rudel Foundation, (RLO), NIH grant 5 U19 HD035476-7 and NICHD Collaborative Programs of Excellence in Autism (EDB).

The authors would like to sincerely thank the participants and their families for their contribution to this work. The first author acknowledges God for all inspiration that led to any meaningful contributions to science.