title: Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.
abstract: Costello syndrome (CS) is a rare genetic disorder caused by germline mutations in the HRAS proto-oncogene which belongs to the family of syndromes called rasopathies. HRAS plays a key role in synaptic long-term potentiation (LTP) and memory formation. Prior research has found impaired recall memory in CS despite enhancement in LTP that would predict memory preservation. Based on findings in other rasopathies, we hypothesized that the memory deficit in CS would be specific to recall, and that recognition memory would show relative preservation. Memory was tested using word-list learning and story memory tasks with both recall and recognition trials, a design that allowed us to examine these processes separately. Participants were 11 adolescents and young adults with molecularly confirmed CS, all of whom fell in the mild to moderate range of intellectual disability. Results indicated a clear dissociation between verbal recall, which was impaired (M = 69 ± 14), and recognition memory, which was relatively intact (M = 86 ± 14). Story recognition was highly correlated with listening comprehension (r = 0.986), which also fell in the low-average range (M = 80 ± 12.9). Performance on other measures of linguistic ability and academic skills was impaired. The findings suggest relatively preserved recognition memory that also provides some support for verbal comprehension. This is the first report of relatively normal performance in a cognitive domain in CS. Further research is needed to better understand the mechanisms by which altered RAS-MAPK signaling affects neuronal plasticity and memory processes in the brain.
authors.affiliation: Section of Psychology, Department of Pediatrics, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas 77030, USA. ddschwar@bcm.edu
authors.forename: David D
authors.initials: DD
authors.lastname: Schwartz
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Katzenstein
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Hopkins
authors.forename: Deborah L
authors.initials: DL
authors.lastname: Stabley
authors.forename: Katia
authors.initials: K
authors.lastname: Sol-Church
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Marni E
authors.initials: ME
authors.lastname: Axelrad
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D056685:Costello Syndrome / Q000523:psychology*; D005260:Female; D006801:Humans; D007807:Language Tests; D008297:Male; D008568:Memory; D000090063:Proto-Oncogene Mas; D021641:Recognition, Psychology; D013647:Task Performance and Analysis; D014706:Verbal Learning; D055815:Young Adult
keywords: Costello syndrome; academic skills; memory; neuropsychology; verbal cognition
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