Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

Abstract

BackgroundThe aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.MethodsParticipants were 24 individuals with CdLS aged 13–42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15–33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests.ResultsIndividuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS.ConclusionsThe relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

“…Individuals with CdLS may have specific deficits in executive function beyond what is expected given the level of intellectual disability, especially in mental flexibility and visual short-term memory 139 . Assessment of the cognitive strengths and weaknesses of an individual and structuring their environment accordingly is beneficial.…”

“…Comparative inhibition, another executive function, may be a relative strength 140 . Profiles of executive functioning may be associated with particular aspects of the CdLS behavioural phenotype, such as frequent repetitive behaviour or social anxiety 139,140 . Management strategies should include environmental enrichment strategies to stimulate cognitive and learning abilities.…”

“…Studies have reported age-related changes in behaviour, emotion and cognition 2,137,139,148,172 . In a study of 42 individuals with NIPBL variants, a (fairly weak) positive correlation was observed between chronological age and behavioural difficulties 137 , and statistically significant correlations were found between chronological age and measures of interest and pleasure, and insistence on sameness 148 , indicating older individuals exhibit more difficulties.…”

“…In a study of 42 individuals with NIPBL variants, a (fairly weak) positive correlation was observed between chronological age and behavioural difficulties 137 , and statistically significant correlations were found between chronological age and measures of interest and pleasure, and insistence on sameness 148 , indicating older individuals exhibit more difficulties. Studies of clinically diagnosed individuals with CdLS have reported changes in verbal working memory, ASD symptomatology, anxiety, low mood, self-injurious behaviour and impulsivity 2,90,109,139,154,166,172,174 , indicating increasing difficulties in frequency and severity with age. Similar changes were not found for aggression, hyper activity or sleep difficulties.…”

A Novel Framework to Measure Executive Function in Down Syndrome With Applications for Early Clinical Diagnosis of Dementia

“…The findings regarding executive function in the Down syndrome population have been mixed, with many studies suggesting impairment in executive functioning relative to individuals' other mental abilities (Borella, Carretti, & Lanfranchi, 2013;Lanfranchi et al, 2010;Reid et al, 2017;Rowe, Lavender & Turk, 2006), but some indicating that executive function is not impaired relative to mental age (Pennington et al, 2003). However, a profile of strengths and weaknesses in executive function has been suggested to be associated with Down syndrome, with areas of executive function such as inhibition often suggested to be less impaired, relative to other aspects such as shifting (Costanzo et al, 2013;Lee et al, 2015;Loveall et al, 2017), and working memory and planning (Daunhauer et al, 2014).…”