Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1

Pobric, Gorana; Taylor, Jason R.; Ramalingam, Hemavathy M; Pye, Emily; Robinson, Louise; Vassallo, Grace; Jung, JeYoung; Bhandary, Misty; Szumanska-Ryt, Karolina; Theodosiou, Louise; Evans, D. Gareth; Eelloo, Judith; Burkitt-Wright, Emma; Hulleman, Johan; Green, Jonathan; Garg, Shruti

doi:10.1007/s10803-021-05043-3

Cited by 21 publications

(27 citation statements)

References 49 publications

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“…Many studies have identified impairment of executive functions and working memory in patients with NF1 [90]. An increased prevalence of attention deficit hyperactivity disorder (ADHD) in children with NF1 has been reported [91][92][93][94][95].…”

Section: Discussionmentioning

confidence: 99%

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Kehrer‐Sawatzki

Wahlländer

Cooper

et al. 2021

Genes

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Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more severe clinical manifestations than patients with intragenic NF1 gene mutations, including facial dysmorphic features, overgrowth, severe global developmental delay, severe autistic symptoms and considerably reduced cognitive abilities, all of which are detectable from a very young age. Type 1 NF1 deletions encompass 1.4 Mb and are associated with the loss of 14 protein-coding genes, including NF1 and SUZ12. Atypical NF1 deletions, which do not encompass all 14 protein-coding genes located within the type 1 NF1 deletion region, have the potential to contribute to the delineation of the genotype/phenotype relationship in patients with NF1 microdeletions. Here, we review all atypical NF1 deletions reported to date as well as the clinical phenotype observed in the patients concerned. We compare these findings with those of a newly identified atypical NF1 deletion of 698 kb which, in addition to the NF1 gene, includes five genes located centromeric to NF1. The atypical NF1 deletion in this patient does not include the SUZ12 gene but does encompass CRLF3. Comparative analysis of such atypical NF1 deletions suggests that SUZ12 hemizygosity is likely to contribute significantly to the reduced cognitive abilities, severe global developmental delay and facial dysmorphisms observed in patients with type 1 NF1 deletions.

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Section: Discussionmentioning

confidence: 99%

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Kehrer‐Sawatzki

Wahlländer

Cooper

et al. 2021

Genes

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“…Subsequently, a battery of behavioural and cognitive assessments was administered, including parent-rated and cognitive measures that tapped into: overall cognitive function, inattention, hyperactivity, communication, daily living skills, socialisation, short-term memory, working memory, sustained attention, and attentional switching, followed by EEG. This paper focuses on parent-reported 3 Adaptive Behaviour Composite (ABC) scores on the Vineland Adaptive Behaviour Scale (VABS-III) [38], performance on an adaptive auditory n-back task [16], and performance on a non-adaptive visual n-back task [16] performed during EEG (see Pobric et al [16] for details of the other tasks performed that are not reported here).…”

Section: Methodsmentioning

confidence: 99%

“…Subsequent analyses were conducted on target and non-target trial data without distinguishing between these conditions, since n-back performance requires maintenance of information during both trial types, particularly in the late post-ERP time window (described below). For the same reason, the number of non-target trials was not decimated to match the number of target trials (which was done in the P300 analysis presented Pobric et al, [16]).…”

Section: Methodsmentioning

confidence: 99%

Aberrant oscillatory activity in Neurofibromatosis Type 1: An EEG study of resting state and working memory

Booth¹,

Garg

Brown

et al. 2022

Preprint

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Background: Neurofibromatosis Type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population. Methods: We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N=16; mean age: 13.03 years; female: n=7) to an age/sex-matched typically-developing control group (N=16; mean age: 13.34 years; female: n=7) using electroencephalography measured during rest and during working memory task performance. Results: Relative to typically-developing children, the NF1 group displayed higher resting state slow wave power and a lower peak alpha frequency. Moreover, higher theta power and frontoparietal theta phase coherence were observed in the NF1 group during working memory task performance, but these differences disappeared when controlling for baseline (resting state) activity. Conclusions: Overall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population. Trial registration: ClinicalTrials.gov identifier: NCT03310996 (first posted: October 16 2017).

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“…2015 ) with impairments in all aspects of executive function ( Plasschaert et al. 2016 ) including working memory impairments ( Pobric et al. 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

Sawyer

Green

Lim

et al. 2022

Cerebral Cortex Communications

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Introduction Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive impairments, particularly with deficits in working memory. Prior research indicates that brain structure is affected in NF1, but it is unclear how these changes relate to aspects of cognition. Methods 29 adolescents aged 11-17 years were compared to age and sex-matched controls. NF1 subjects were assessed using detailed multimodal measurements of working memory at baseline followed by a 3T MR scan. A voxel-based morphometry approach was used to estimate the total and regional gray matter(GM) volumetric differences between the NF1 and control groups. The working memory metrics were subjected to a principal component analysis (PCA) approach. Results The NF1 groups showed increased gray matter volumes in the thalamus, corpus striatum, dorsal midbrain and cerebellum bilaterally in the NF1 group as compared to controls. Principal component analysis on the working memory metrics in the NF1 group yielded three independent factors reflecting high memory load, low memory load and auditory working memory. Correlation analyses revealed that increased volume of posterior cingulate cortex, a key component of the default mode network (DMN) was significantly associated with poorer performance on low working memory load tasks. Conclusion These results are consistent with prior work showing larger subcortical brain volumes in the NF1 cohort. The strong association between posterior cingulate cortex volume and performance on low memory load conditions supports hypotheses of deficient DMN structural development, which in turn may contribute to the cognitive impairments in NF1.

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Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1

Cited by 21 publications

References 49 publications

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Aberrant oscillatory activity in Neurofibromatosis Type 1: An EEG study of resting state and working memory

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

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