We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.
To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure no-reply@cambridge.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Rubinstein-Taybi Syndrome (RSTS) is a rare multiple congenital autosomal dominant disorder, with an incidence of roughly 1/125,000 live births (Milani et al., 2015). RSTS is characterized by several typical somatic characteristics and developmental disabilities. Common neurological findings in patients with RSTS include mild or moderate intellectual impairment and delays in gross motor development (Taupiac et al., 2021; Hamilton et al., 2016). Additional characteristics observed among individuals with RSTS include hyperactivity, abnormalities in expressive language, inattention, motor difficulties, noise intolerance, maladaptive behaviors, and fewer modes of communication (Waite et al., 2015). Due to the condition’s rarity, very few studies have investigated the cognitive profiles of RSTS patients with clinical features of EP300 (Type 2; Morel et al., 2018) in effected youth. This case study represents the first reported comprehensive neuropsychological description to our knowledge of an individual with this condition.
Participants and Methods:
Participant: The participant is an 8-year, 4-month-old young girl referred for neuropsychological evaluation. LX was diagnosed with failure to thrive due to her small size, although she met all developmental milestones on time. LX was diagnosed with RSTS, Type 2 through genetic testing and blood work following concerns about small stature, microcephaly discovered on an MRI, and feeding difficulties. A 4kb deletion of 22q13.2 which contains exon 2 of EP300 was identified. Method: Medical and school records review, a clinical interview with LX and her family, neuropsychological assessment, and parent-and teacher-report questionnaires were used to assess functioning. Raw scores were standardized for comparison against age- and (where appropriate) gender-matched peers.
Results:
In addition to her medical diagnoses of RSTS, Type 2, and her prior diagnosis of ADHD - Combined Subtype, LX also met diagnostic criteria for Specific Learning Disability with Impairment in Reading and a Mixed Receptive-Expressive Language Disorder. LX also met criteria for Encephalopathy as characterized by weakness in visual perception, visuospatial judgment and reasoning, and working memory. LX demonstrated adaptive functioning weaknesses in domains such as self-direction, and self-care, while communication skills were reported to be average. Overall, LX’s current levels of general cognitive ability and adaptive functioning were consistent with Borderline Intellectual Functioning; however, the diagnosis was deferred at present. Parents and teachers reported difficulties with peer relationships, hyperactivity, and aggression, consistent with known features of this condition. Strengths were noted in verbal and nonverbal reasoning, spelling, math calculation, verbal and visual memory, and improvement in attention with medication, which all fell within the broadly average range of functioning.
Conclusions:
LX’s presentation and pattern of neuropsychological findings are consistent with the current conceptualization of development in RSTS, Type 2, but reflect a more nuanced clinical picture. In particular, although general cognitive ability was borderline overall, deficits were largely circumscribed to spatial reasoning, with broadly average verbal and nonverbal reasoning abilities. This case highlights the importance of comprehensive neuropsychological testing of patients with RSTS. Reporting of general cognitive ability scores alone may obscure underlying patterns of relative strengths and weaknesses that have important ramifications for both targeted interventions and for a more positive prognosis related to functioning in academic, home, and community environments.
Repetition priming is a form of implicit memory in which prior exposure to a stimulus facilitates the subsequent processing of that stimulus. While explicit memory has consistently been shown to decline with age, the effect of age on implicit memory remains unresolved. Most studies examining age-related effects on priming have utilized words or pictures of real objects with pre-existing representations that may differentially involve implicit and explicit memory processes across age groups. Repetition priming may also be influenced by attentional processes during encoding that are differentially affected by age. In a previous study using word-stem completion, we found that individual differences in cortical arousal, but not spatial attention, influenced the magnitude and temporal dynamics of conceptual priming in healthy older adults. The objective of this study is to investigate whether cortical arousal and spatial attention play differential roles in the magnitude and temporal dynamics of repetition priming in young and older adults using novel shapes that do not have pre-existing representations within memory.
Participants and Methods:
Healthy young (n=25, M age=19.4) and older adults (n=54, M age=70.0) completed a perceptual repetition priming task that was followed by a recognition memory test and an alerting/spatial orienting task from which behavioral measures of cortical arousal and spatial attention were derived. Older adults also completed a battery of neuropsychological tests. In the perceptual priming task, participants made a speeded judgment on whether novel nonverbal shapes had “closed” or “open” perimeters. Each shape was presented twice: half following the first presentation (immediate repetition) and half after three intervening items (delayed repetition). Participants were then shown closed and open versions of each shape and asked to identify which version was presented in the previous task. In the alerting/orienting task, participants made a speeded response to the location of a visual target; on a subset of trials, either nonspatial alerting or spatial orienting cues were presented 300ms prior to the target.
Results:
Response times were slower and judgment accuracy greater in older adults (ps<0.05). However, the groups showed comparable levels of immediate and delayed repetition priming along with chance levels of recognition memory accuracy. Cortical arousal was reduced (p<0.001) and costs associated with spatial attention were larger (p<0.01) in the older adults. Despite comparable priming, cortical arousal and spatial attention were differentially related to priming across groups. In the young group, lower cortical arousal was associated with greater delayed priming (r=-.47, p=0.017) and slower decay rate (r=.44, p=0.03). In the older group, higher cost of spatial orienting was associated with greater immediate priming (r=.40, p=0.003) and faster decay rate (r=.29, p=0.03). Better category fluency performance was also associated with greater immediate priming (r=.32, p=0.035) and faster decay rate (r=.34, p=0.025) in older adults.
Conclusions:
These findings suggest that different attentional systems support repetition priming across age groups. Priming is modulated by the efficiency of cortical arousal in young adults, but by the costs of spatial attention in older adults with reduced cortical arousal, consistent with a shift from bottom-up to top-down attentional processes and broader attentional scope with age.
Monads prove to be useful mathematical tools in theoretical computer science, notably in denoting different effects of programming languages. In this paper, we investigate a type of monads which arise naturally from Keimel and Lawson’s $\mathbf{K}$-ification.
A subcategory of $\mathbf{TOP}_{\mathbf{0}}$ is called of type $\mathrm{K}^{*}$ if it consists of monotone convergence spaces and is of type $\mathrm K$ in the sense of Keimel and Lawson. Each such category induces a canonical monad $\mathcal K$ on the category $\mathbf{DCPO}$ of dcpos and Scott-continuous maps, which is called the order-$\mathbf{K}$-ification monad in this paper. First, for each category of type $\mathrm{K}^{*}$, we characterize the algebras of the corresponding monad $\mathcal K$ as k-complete posets and algebraic homomorphisms as k-continuous maps, from which we obtain that the order-$\mathbf{K}$-ification monad gives the free k-complete poset construction over the category $\mathbf{POS}_{\mathbf{d}}$ of posets and Scott-continuous maps. In addition, we show that all k-complete posets and Scott-continuous maps form a Cartesian closed category. Moreover, we consider the strongness of the order-K-ification monad and conclude with the fact that each order-K-ification monad is always commutative.
Phonemic fluency, an important cognitive skill for everyday functioning, has been shown to decline in comparison to same-aged peers following pediatric cancer diagnosis and treatment, despite intact semantic fluency. More generally, socioeconomic status (SES) has recently been shown to be one of the strongest predictors of neuropsychological outcomes among pediatric oncology patients, with lower SES predicting worse intellectual and academic functioning. However, the association between SES and phonemic fluency within this population has yet to be explored. The main objective of this project was to determine whether SES (specifically estimated household income) significantly predicts phonemic fluency performance among patients with PBT, and it was hypothesized that higher SES would be associated with better phonemic fluency outcomes.
Participants and Methods:
136 participants with PBT ages 7-20 (x=14.15 years, SD=3.87), were administered phonemic fluency trials (either from the NEPSY - Second Edition or Delis-Kaplan Executive Function System, with no significant differences in performance between measures). The sample was 58.8% male and half Latino (50.0%), followed by Caucasian (30.1%), Asian American (7.4%), Black (6.6%), and Other (5.9%) ethnicity. All patients identified English as their primary and preferred language regardless of predominant household language, reducing the potential confounding impact of language. Given documented associations between PBT and lower intelligence following diagnosis and treatment, estimated intellectual functioning was included in the first block of hierarchical regression to isolate and further elucidate the potential contributing influence of SES on phonemic fluency. Median household income for specific neighborhoods was used as a proxy for SES, while Wechsler Matrix Reasoning (MR) was used as an estimate of general intellectual functioning given the high correlation between MR and full scale IQ.
Results:
Consistent with prior literature, phonemic fluency was lower than normative age expectations [t(135)=-3.653, p=.0002], though still within the average range clinically (x=8.93). As hypothesized, SES was positively correlated with phonemic fluency [r(136)=.219, p=.005]. Furthermore, SES significantly predicted phonemic fluency performance above and beyond estimated intelligence, accounting for a significant increase in variance (p=.020). Post-hoc analyses also revealed poorer phonemic fluency among participants with infratentorial brain tumors as compared to supratentorial brain tumors after controlling for SES, t(108)=-1.748, p=.042.
Conclusions:
Consistent with the known impact of SES on neuropsychological late effects among patients with pediatric cancer, phonemic fluency was positively correlated with SES among participants with PBT above and beyond estimated intelligence, suggesting the distinct role of SES on rapid verbal retrieval within this population. This has important implications for identifying patients at higher risk, helping to ensure timely provision of services and supports. Poorer phonemic fluency was also noted among patients with infratentorial (vs. supratentorial) brain tumors after controlling for SES, which may influence studies combining tumor location as the vast majority of PBTs are infratentorial. This supports prior literature demonstrating the need for increased cerebellar activation during phonemic (vs. semantic) retrieval. Additional research is needed to further explore these findings.
Mild cognitive impairment (MCI) is common in Parkinson’s disease (PD). Recent scientific advances show that MCI in PD could also be impacted by neuropsychiatric symptoms (such as apathy, anxiety, depression), dopaminergic deficiency (more striatal denervation associated with MCI) and certain genotypes such as in APOE E4, MAPT H1 or SNCA C/C carriers. We used a python-based random forest machine-learning algorithm (scikit-learn) in order to evaluate the factors that are mostly involved in the MCI conversion over a 5-year follow-up period.
Participants and Methods:
Baseline data of healthy individuals and participants with Parkinson’s disease were extracted from the PPMI dataset. All participants also had the evaluations of their cognitive status, neuropsychiatric symptoms (hallucinations, anxiety, apathy, depression, sleepiness, impulse control disorders and rapid eye movement behaviors), dopaminergic uptake (DaT-Scan) and genetic status (APOE, MAPT and SNCA) at baseline and after 5 years. Baseline demographic (age, sex, education years) and clinical values (duration of disease, age of onset) were also included in the model. The algorithm defined (1) the most important variables in predicting MCI, (2) the threshold values to distinguish “converting” vs. “non-converting” subgroups.
Results:
The algorithm showed that (1) age onset of disease, (2) dopaminergic uptake, (3) age, (4) anxiety, and (5) years of education were the most important factors in predicting MCI over 5 years. Among the factors involved in predicting conversion to MCI, a lower number of years of education associated with lower dopaminergic uptake in the right putamen increased the risk of conversion. Individuals with more years of education are at higher risk of conversion if they have symptoms of depression, anxiety, and lower right striatal dopamine uptake. Other factors that were involved in increasing the risk, were the presence of sleepiness and the presence of rapid eye movement disorders. Interestingly, the genetic factors were of negligible importance and were not considered by the algorithm. Finally, the model showed an accuracy of classification of participants (converters vs. non-converters) of 92.53%.
Conclusions:
Random forest algorithm shows that (1) depression and anxiety are probably important factors for MCI conversion; (2) years of education influences the conversion; (3) presence of sleepiness and rapid eye movement increases the risk of conversion to MCI. Since the algorithm considers the disease’s age onset, but not the diagnosis of individuals, it would be necessary to generate a model for each group (Healthy on the one hand, Parkinson’s on the other).
Preterm birth (gestational age < 37 weeks) is associated with delays in the development of executive functions and their precursors, including controlling attention and retaining task-relevant information. In the current study, we aim to examine the potential therapeutic effects of a novel cognitive tablet game, Dino Island (DI), and its implementation through a parent-delivered intervention program on cognitive development in preterm children.
Participants and Methods:
In total, 34 participants (M = 4.99 years old) were recruited from a perinatal follow-up clinic or through the community in Calgary, AB. Participants were randomly assigned to either the DI intervention (n = 20) or tablet-based educational control games (C; n = 14). Parents completed a 2-hour training program that included information about how to support their child through the intervention using behavioural supports and metacognitive strategies. Neuropsychological assessment was done prior to beginning the intervention and after 12 weeks of intervention. Various tests were used to assess near transfer measures of sustained attention, shifting attention, executive function, verbal working memory and inhibition, and to assess far transfer measures of language skills and early numeracy. Families tracked weekly progress using journals, with the goal of 3-4 30-minute sessions per week. Multiple ANCOVA analyses were run to analyze quantitative data using the pre-test score as a covariate.
Results:
A total of 21 participants completed the 12 weeks of intervention (DI: n = 11 and C: n = 10). Those who did not complete the intervention withdrew from the study or were unable to make a follow-up assessment due to COVID-19 restrictions. Groups did not significantly differ in age (DI: M = 4.92, C: M = 4.61), sex (DI: Female = 6, C: Female = 6), or in weeks preterm (DI: M = 29.49 weeks, C: M = 32.7 weeks).
Multiple ANCOVAs were run to determine the effect of either the DI or Control intervention on the cognitive measures after controlling for the pre-intervention score of participants. As compared to the Control group, the DI intervention group showed near transfer gains in sustained attention (F(1,7) = 5.1, p = 0.043), and executive functions (F(2,18) = 5.41, p = 0.014), as well as far transfer gains in phonetic awareness (F(2,16) = 11.63, p = 0.001), vocabulary and oral language skills (F(2,7) = 5.54, p = 0.014), and number identification fluency (F(2,17) = 11.37, p = 0.001). Detailed analyses will be discussed in the poster.
Conclusions:
This study provides preliminary support for the potential efficacy of the DI intervention when delivered by parents to children born preterm. Pre-post testing after 12 weeks of intervention indicated both near and far transfer gains. These results highlight the benefits of utilizing a tablet game format to facilitate collaborative parent-child interactions in cognitive intervention. This intervention provides a potential affordable and engaging alternative to existing cognitive interventions. Further investigation with a larger and more diverse sample is required.
In the aftermath and continuance of the COVID-19 pandemic, the field of neuropsychology has experienced a burgeoning literature base on remote telehealth practices. These practices include both videoconference and telephone modalities. Several studies to date have proposed evidence suggesting that inperson and remote telehealth assessments demonstrate comparable results. One of the major limitations to telehealth practices is the scarcity of measures of processing speed. A widely used measure is the Oral Trail Making Test, which has two trials (A & B). Oral Trails B is often conceptualized as a measure of set-shifting and cognitive flexibility. And validity studies support Oral Trails B having strong test-retest reliability and correlation to its written counterpart. In contrast, there is contention as to whether Oral Trails A can be conceptualized as a measure of basic attention and speed versus simple numerical automaticity. Importantly, to our knowledge, the test-retest reliability of Oral Trails A administered specifically via telephone has never been reported in a healthy sample. The following study presents test-retest reliability for the Oral Trails A and B (in a healthy control group) administered as part of a larger study investigating the effects of deep diaphragmatic breathing on cognitive functioning.
Participants and Methods:
Eighty healthy young adults with elevated stress levels were recruited from a major metropolitan city at a major university. The subjects had to be between the ages of 18 to 29 and self-reported Perceived Stress Scale score >13. The subjects could not practice any form of meditation, yoga, or breathing exercise regularly. Additionally, they could not have any severe medical or psychiatric disorder, be actively suicidal; have a substance use disorder within the past year, or use of medication with a known negative impact on cognition or autonomic nervous system (ANS) arousal. Participants were randomized to a waitlist control group or an intervention group. Cognitive assessments were administered over the phone to both groups (pre and post-treatment) and self-report measures were completed online due to quarantine restrictions.
Results:
Among participants in the waitlist control group, the mean difference (MD) between time points on OTMT-A (MD= -0.17, SD= 1.69) was small and not significant (p>0.05). The mean difference for OTMT-B (MD= -13.06, SD=26.99) was large and significant (p=0.01). Bivariate Pearson correlations were computed revealing a significant moderate strength relationship between OTMT-A performance across time points (r=0.6, p<0.001). In contrast, performance on OTMT-B across time points revealed a nonsignificant, weak relationship (r=0.2, p=1.94).
Conclusions:
These results do not support literature demonstrating strong test-retest reliability for OTMT-B. Furthermore, this is the first study establishing test-retest reliability for the OTMT-A as administered via a novel telephonic modality. Given the novel and non-standardized method of administration, the data should be interpreted with caution. Nonetheless, given the weak relationship in OTMT-B performance and the only moderate relationship of OTMT-A performance across time points, the results suggest that the OTMT may not be highly reliable as administered via a telephonic modality.
The Pediatric Epilepsy Research Consortium (PERC) Epilepsy Surgery Database Project is a multisite collaborative that includes neuropsychological evaluations of children presenting for epilepsy surgery. There is some evidence for specific neuropsychological phenotypes within epilepsy (Hermann et al, 2016); however, this is less clear in pediatric patients. As a first step, we applied an empirically-based subtyping approach to determine if there were specific profiles using indices from the Wechsler scales [Verbal IQ (VIQ), Nonverbal IQ (NVIQ), Processing Speed Index (PSI), Working Memory Index (WMI)]. We hypothesized that there would be at least four profiles that are distinguished by slow processing speed and poor working memory as well as profiles with significant differences between verbal and nonverbal reasoning abilities.
Participants and Methods:
Our study included 372 children (M=12.1 years SD=4.1; 77.4% White; 48% male) who completed an age-appropriate Wechsler measure, enough to render at least two index scores. Epilepsy characteristics included 84.4% with focal epilepsy (evenly distributed between left and right focus) and 13.5% with generalized or mixed seizure types; mean age of onset = 6.7 years, SD = 4.5; seizure frequency ranged from daily to less than monthly; 53% had structural etiology; 71% had an abnormal MRI; and mean number of antiseizure medications was two. Latent profile analysis was used to identify discrete underlying cognitive profiles based on intellectual functioning. Demographic and epilepsy characteristics were compared among profiles.
Results:
Based on class enumeration procedures, a 3-cluster solution provided the best fit for the data, with profiles characterized by generally Average, Low Average, or Below Average functioning. 32.8% were in the Average profile with mean index scores ranging from 91.7-103.2; 47.6% were in the Low Average profile with mean index ranging from 80.7 to 84.5; and 19.6% were in the Below Average profile with mean index scores ranging from 55.0-63.1. Across all profiles, the lowest mean score was the PSI, followed by WMI. VIQ and NVIQ represented relatively higher scores for all three profiles. Mean discrepancy between indices within a profile was as large as 11.5 IQ points. No demographics or epilepsy characteristics were significantly different across cognitive phenotypes.
Conclusions:
Latent cognitive phenotypes in a pediatric presurgical cohort were differentiated by general level of functioning; however, across profiles, processing speed was consistently the lowest index followed by working memory. These findings across phenotypes suggest a common relative weakness which may result from a global effect of antiseizure medications and/or the widespread impact of seizures on neural networks even in a largely focal epilepsy cohort; similar to adult studies with temporal lobe epilepsy (Hermann et al, 2007). Future work will use latent profile analysis to examine phenotypes across other domains relevant to pediatric epilepsy including attention, naming, motor, and memory functioning. These findings are in line with collaborative efforts towards cognitive phenotyping which is the aim of our PERC Epilepsy Surgery Database Project that has already established one of the largest pediatric epilepsy surgery cohorts.
Due to the pathology of Alzheimer's disease (AD), it is not uncommon for patients to struggle with cognitive tasks involving figure copying. However, figure copying requires involvement from multiple other domains, including visuospatial and frontal-executive abilities. Less clear is whether figure copying performance, as measured by the Rey-Osterrieth Complex Figure (ROCF), is more affected by visuospatial or frontal-executive compromise in patients with AD. This study aims to discover whether performance on the ROCF varies more with executive or visuospatial abilities in patients with AD.
Participants and Methods:
A total of 156 patients (79 women, M age = 77.82, M education = 14.21) diagnosed with Alzheimer's disease (AD) participated in comprehensive neuropsychological assessment as part of outpatient neurology evaluations. In addition to the ROCF Copy trial, participants completed measures of visuospatial function (WAIS-IV Block Design & Picture Completion) and frontalexecutive functioning (Trails B, DKEFS Inhibition, WAIS-IV Similarities).
Results:
Canonical correlations revealed that ROCF Copy was significantly and positively related to the set of tests measuring visuospatial functioning, p < .001, and frontal-executive functioning, p < .001. Post-hoc bivariate correlations showed significant positive correlations between ROCF Copy and each visuospatial, ps < .01, and each frontalexecutive, ps < .04, measure. The relationship between ROCF Copy and each visuospatial measure was significantly stronger than the relationship between ROCF Copy and every frontal-executive measure except WAIS-IV Similarities, ps < .01. Those with visuospatial impairment (>1.5 SD) performed significantly worse on the ROCF Copy than those without impairment, p <.01. This difference persisted even when the effects of frontal-executive measures were controlled, p < .01. In contrast, those with frontal-executive impairment did not perform significantly worse on the ROCF Copy than those without frontal-executive impairment, p < .01. This did not change when controlling for the effects of visuospatial measures. Finally, the significant difference in ROCF Copy between those with mild cognitive impairment (MCI) and those with dementia (p < .01) disappeared when visuospatial measures were controlled, but it remained when frontal-executive measures were covariates, p < .03.
Conclusions:
These findings suggest the figure copying of those with AD is significantly related to both their visuospatial and frontal-executive functioning, but the relationship with visuospatial functioning is stronger. Impairment in visuospatial, but not frontal-executive, functions, seems to have a negative impact on the figure copying of those with AD, and performance on visuospatial compared to frontal-executive measures better accounts for the weaker ROCF Copy scores among those with dementia relative to MCI. Therefore, the pathological effects of AD on figure copying appear to occur predominantly through visuospatial rather than frontalexecutive channels, and interventions for offsetting decline in figure copying may be most effective when targeting visuospatial abilities, such as visual perception and visual construction.
The presence of an e4 allele of the apolipoprotein E gene (APOE ε4) is considered the strongest genetic risk factor for Alzheimer’s disease (AD) in the US. Evidence suggests that APOE ε4 carriers have worse memory performances compared to APOE ε4 non-carriers in cognitively normal older adults and that female APOE ε4 carriers are at greater risk of AD compared to male carriers. Recent advancements in estimating biological age using DNA methylation markers may enhance understanding of the associations between sex and APOE ε4 on cognitive aging. Thus, the current study aimed to investigate whether associations between APOE ε4 status and memory vary according to rates of biological aging, using a DNA methylation age biomarker, in older men and women without dementia.
Participants and Methods:
Cross-sectional data were obtained from 1771 older adults enrolled in the 2016 wave of the Health and Retirement Study (Mean age = 75, SD = 7; 57% female; 76% non-Hispanic white). The standardized residual from regressing chronological age on the epigenetic clock “DNAGrimAge” was used as a measure of the aging rate. A series of ANCOVAs with Bonferroni corrected post hoc pairwise tests, adjusting for education, white blood cell count, chronological age, and depressive symptoms were used to test the main and interaction effects of APOE ε4 status (non-carriers = 0; carriers = 1) and aging rates, defined as 1 standard deviation below (i.e., slow rate), or above (i.e., fast rate) sex-specific mean rate (i.e., average) of aging, on a standardized composite measure of verbal memory. Alpha was set at .05 and all raw scores were converted to z-score metric prior to analyses.
Results:
APOE ε4 female carriers with slow rates of aging (n = 34) had significantly better memory performances compared to APOE ε4 female carriers with fast rates of aging (n = 41), mean difference = .61, p = .006, and average rates of aging (n = 170), mean difference = .44, p = .017. There was no effect of aging rate on memory in the female non-carriers and there were no significant differences in memory performances based on rates of aging in either male APOE ε4 carriers or non-carriers.
Conclusions:
Although the presence of the APOE ε4 has previously been shown to represent a stronger risk of AD for women compared to men, results from the current study suggest that slower rates of aging in this high-risk group may confer protection against clinical symptoms (i.e., memory impairment). Conversely, faster than average aging in female APOE ε4 carriers may represent a group at greater risk of memory impairment due to AD. However, longitudinal studies with larger sample sizes are needed to evaluate the risk of dementia/memory impairment based on rates of aging in female APOE ε4 carriers.
Significant advances in the research of sport-related concussion (SRC) and repetitive head impacts (RHI) over the previous decade have translated to improved injury identification, diagnosis, and management. However, an objective gold standard for SRC/RHI treatment has remained elusive. SRC often result in heterogenous clinical outcomes, and the accumulation of RHI over time is associated with long-term declines in neurocognitive functioning. Medical management typically entails an amalgamation of outpatient medical treatment and psychiatric and/or behavioral interventions for specific symptoms rather than treatment of the underlying functional and/or structural brain injury. Transcranial photobiomodulation (tPBM), a form of light therapy, has been proposed as a non-invasive treatment for individuals with traumatic brain injuries (TBI), possibly including SRC/RHI. With the present proof-of-concept pilot study, we sought to address important gaps in the neurorehabilitation of former athletes with a history of SRC and RHI by examining the effects of tPBM on neurocognitive functioning.
Participants and Methods:
The current study included 49 participants (45 male) with a history of SRC and/or RHI. Study inclusion criteria included: age 18-65 years and a self-reported history of SRC and/or RHI. Exclusion criteria included: a history of neurologic disease a history of psychiatric disorder, and MRI contraindication. We utilized a non-randomized proof-of-concept design of active treatment over the course of 8-10 weeks, and neurocognitive functioning was assessed at pre- and post-treatment. A Vielight Neuro Gamma at-home brain tPBM device was distributed to each participant following baseline assessment.
Participants completed standardized measures of neurocognitive functioning, including the California Verbal Learning Test (CVLT-3), Delis Kaplan Executive Function System (D-KEFS), Continuous Performance Test (CPT-3), and The NIH Toolbox Cognition Battery. Neurocognitive assessments were collected prior to and following tPBM treatment. Paired t-tests and Wilcoxon’s signed-rank tests were used to evaluate change in performance on measures of neurocognitive functioning for normal and nonnormal variables, respectively, and estimates of effect size were obtained.
Results:
Study participants’ ability for adapting to novel stimuli and task requirements (i.e., fluid cognition; t=5.96; p<.001; d=.90), verbal learning/encoding (t=3.20; p=.003; d=.48) and delayed recall (z=3.32; p=.002; d=.50), processing speed (t=3.13; p=.003; d=.47), sustained attention (t=-4.39; p<.001; d=-.71), working memory (t=3.61; p=.001; d=.54), and aspects of executive functioning improved significantly following tPBM treatment. No significant improvements in phonemic and semantic verbal fluencies, reading ability, and vocabulary were shown following tPBM treatment.
Conclusions:
The results of this pilot study demonstrate that following 8-10 weeks of active tPBM treatment, retired athletes with a history of SRC and/or RHI experienced significant improvements in fluid cognition, learning and memory, processing speed, attention, working memory, and aspects of executive functioning. Importantly, the majority of effect sizes ranged from moderate to large, suggesting that tPBM has clinically meaningful improvements on neurocognitive functioning across various cognitive domains. These results offer support for future research employing more rigorous study designs on the potential neurorehabilitative effects of tPBM in athletes with SRC/RHI.
As the presentation of anxiety may differ between younger and older adults, it is important to select measures that accurately capture anxiety symptoms for the intended population. The 21-item Beck Anxiety Inventory (BAI) is widely used; however, its high reliance on somatic symptoms may result in artificial inflation of anxiety ratings among older adults, particularly those with medical conditions. The 30-item Geriatric Anxiety Scale (GAS) was specifically developed for older adults and has shown strong psychometric properties in community-dwelling and long-term care samples. The reliability and validity of the GAS in a memory clinic setting is unknown. The present study aimed to compare the psychometric properties of the GAS and the BAI in a memory disorder clinic sample.
Participants and Methods:
Participants included 35 older adults (age=73.3±5.0 years; edu=15.3±2.8 years; 42% female; 89% non-Hispanic white) referred for a neuropsychological evaluation in a memory disorders clinic. In addition to the GAS and BAI, the Geriatric Depression Scale (GDS) and Montreal Cognitive Assessment (MoCA) were included. Cutoffs for clinically significant anxiety were based on published data for each measure. A dichotomous anxiety rating (yes/no) was created to examine inter-measure agreement; minimal anxiety was classified as “no” and mild, moderate and severe anxiety were classified as “yes.” Internal scale reliability was examined using Cronbach’s alpha. Convergent and discriminant validity were examined using Spearman rank correlation coefficients. Frequency distributions determined the proportion of yes/no anxiety ratings, and a McNemar test compared the proportion of anxiety classifications between the two measures.
Results:
Both measures had excellent internal consistency (BAI: a=.88; GAS: a=.94). The BAI and GAS were highly correlated with each other (r=.79, p<.001) and positively correlated with a depression measure (BAI-GDS: r=.51, p=.002; GAS-GDS: r=.53, p=.001). Discriminant validity was supported by lower correlations between the anxiety measures and cognition (BAI-MoCA: r=.38, p=.061; GAS-MoCA: r=.34, p=.098). The BAI classified 14 participants as having anxiety (40%) and 21 participants as not having anxiety (60%), whereas the GAS classified 21 participants as having anxiety (60%) and 14 participants as not having anxiety (40%). The proportion of anxiety classifications were significantly different between the two measures (p =.016). For 28 participants (80%), there was agreement between the anxiety ratings. Seven participants (20%) were classified as having anxiety by the GAS, but not by the BAI; GAS items related to worry about being judged or embarrassed may contribute to discrepancies, as they were frequently endorsed by these participants and are unique to the GAS.
Conclusions:
Results support that both anxiety measures have adequate psychometric properties in a clinical sample of older adult patients with memory concerns. It was expected that the BAI would result in higher classification of anxiety due to reliance on somatic symptoms; however, the GAS rated more participants as having anxiety. The GAS may be more sensitive to detecting anxiety in our sample, but formal anxiety diagnoses were not available in the current dataset. Future research should examine the diagnostic accuracy of the GAS in this population. Overall, preliminary results support consideration of the GAS in memory disorder evaluations.
Motor weaknesses are frequently observed in very preterm children (VPT; gestational age [GA] < 30 weeks) prior to school entry and may serve as markers of risk for school-age cognitive and behavioral deficits. The aims of the present study were to: (1) determine if weaknesses in preschool motor skills in children born VPT and a full-term comparison group (FT; GA > 37 weeks) are associated with lower scores on tests of cognition and caregiver ratings of behavior in early elementary school; (2) explore the possibility that weaknesses in preschool motor abilities predict less positive changes in cognition and behavior across follow-up; and (3) determine if associations between preschool motor skills and later cognitive and behavioral functioning differed for the two groups.
Participants and Methods:
Thirty-eight children born VPT and thirty born FT completed measures of motor skills, global cognitive ability, and executive function and caregivers completed questionnaires assessing children's behavior at age 4 (T1; M = 4.71 years) and at ages 7 or 8 (T2; M = 7.87 years). ANCOVAs were used to examine group differences in cognitive and behavioral outcomes. Hierarchical regressions were conducted to examine the Movement Assessment Battery for Children, 2nd Ed. (MABC-2) total score at T1 as a predictor of T2 scores on cognitive tests and behavior ratings (step 1). Covariates included sex and socioeconomic status (step 1). Outcomes included the Differential Ability Scales-II (DAS-II), NIH Toolbox Dimensional Change Card Sort (DCCS), Behavior Rating Inventory of Executive Function Global Executive Composite (BRIEF GEC), Emotion Regulation Checklist, and Social Communications Questionnaire at T2. T1 status on the T2 cognitive and behavioral outcomes was included as a predictor to determine if T1 MABC-2 predicted change in these outcomes from T1 to T2 (step 2). In separate analyses, T1 MABC-2 x group interactions were included to determine if associations of the T1 MABC-2 with T2 outcomes differed by group.
Results:
The VPT group had significantly lower scores than the FT group on the DAS-II at T2. Lower scores on the T1 MABC-2 were significantly associated (p < .05) with lower scores on the DAS-II and DCCS and more executive dysfunction on the BRIEF-GEC. These associations were stronger for the VPT group than for the FT group for the T2 DAS-II Global Cognitive Ability and Verbal composites but not for the other outcomes. Lower scores on the T1 MABC-2 were associated with less positive change on the DAS-II Nonverbal composite and the DCCS and increased executive dysfunction on the BRIEF-GEC.
Conclusions:
Weaknesses in motor abilities at 4 years of age were associated with cognitive and behavioral difficulties at early school age, both for children born VPT and those born FT. These weaknesses were also associated with less favorable changes in cognition and behavior across the transition from preschool to early school age. Findings suggest that early motor abilities provide a marker of generalized developmental impairment or that early motor impairments have cascading effects on development. These results support the need for early screening and intervention for motor deficits in preschoolers born either VPT or FT.
South Africa has a multi-lingual population where fewer than 10% of the population speak English as a first language. This poses a challenge regarding language usage for a verbal fluency task. This study investigated the difference in number of words produced by independent groups of non-English examinees required to produce words in English, or in their first language, on a category verbal fluency task.
Participants and Methods:
A study on South African non-English first language participants was conducted using the Category Verbal Fluency test (animals) for a sample of nonclinical adults (N = 264) aged 18-60 years with 8-12 years of disadvantaged (poorly resourced) quality of education. Participants either had an African indigenous first language, or Afrikaans (a Dutch derivative) as a first language. The data were derived from one group of either African indigenous or Afrikaans first language participants who were required to use English for word production (Group A English) (n = 159; African indigenous n = 135; Afrikaans n = 24) and another group of participants who were required to use their first language (Group B First Language) (n = 105; African indigenous n = 83; Afrikaans n = 22). The comparative data were stratified for age ranges 18-20, 21-30, 31-40, 41-50 and 51-60 years. Level of education was broadly equivalent across the comparative groups. T-test analyses compared the number of words produced between the English versus indigenous African groups, and English versus Afrikaans first language groups for each age category.
Results:
The comparison for the indigenous African first language participants, revealed no significant differences in word production for words produced in English or first language regardless of age. In the comparison for the Afrikaans first language participants there was a highly consistent tendency for better word production in Afrikaans than in English. These results indicate that socio-cultural factors may be influential for English language proficiency on a verbal fluency task, rather than the effect of first language usage “per se”.
Conclusions:
Since the dismantling of the Apartheid system in South Africa thirty years ago, English has become the main language used in government and business and is the preferred language of tuition in schools for those speaking English or an African indigenous language, whereas during the Apartheid era, two official languages were used for government, business, and schooling (Afrikaans and English). Currently, many Afrikaans speaking individuals continue to have Afrikaans as the preferred primary language of tuition in the schools and it persists as the preferred language for use in many Afrikaans dominated business arenas. This study attests to a high level of English fluency amongst those South Africans with an indigenous African first language, who clearly are as fluent in word production using English as they are when using their first language, in contrast to the indications for Afrikaans speaking individuals. Practitioners need to be alert to sociocultural factors that can impact on the optimal use of language in test situations, which may not necessarily be the first language.
Functional disability is a foreseeable consequence of neurodegenerative diseases affecting cognition, yet there are few validated instruments that assess functional capacity for use in pre-clinical and clinical dementia conditions. To our knowledge, the existing instruments do not comprehensively assess decision-making capacity across the numerous functional domains of daily life. We developed and evaluated the utility of an informant-report measure, the Assessment of Functional Capacity Interview (AFCI), within a sample of cognitively unimpaired and preclinical dementia groups.
Participants and Methods:
Based on a comprehensive literature review, analysis of existing measures, and clinical experience, we generated >40 items consisting of open-ended questions assessing crucial aspects of daily functioning. These items were presented to 12 experts in the field of geriatrics and neuropsychology, through a graded approach (4 rounds of feedback and alterations), resulting in item modification or rejection, as well as addition of new items. The remaining items were piloted on three informants at the time of outpatient clinical evaluations, leading to further item refinement. The final version of the AFCI evaluated capacity across domains of financial affairs and management, medical affairs and healthcare management, home and personal safety, and social behaviors and community functioning. The AFCI contained 6 items per domain with response items that ranged from 0=no difficulty to 3=severe difficulty (scores ranged from 0 to 72).
Results:
Participants (N = 58; Agemean = 76; Educationmean = 16) were classified as cognitively unimpaired (CU, n = 17), subjective cognitive decline (SCD, n = 24), or mild cognitive impairment (MCI, n = 17) based on established criteria. All participants had a knowledgeable informant who completed the AFCI. We found statistically significant moderate to large correlations between the AFCI total score and an informant report measure of cognitive functioning (Brief Informant Form of Neurobehavioral Symptomatology total score), rs(42) = .73, p < .001, Test of Practical Judgment-informant total score rs(42) = .87, p < .001, and Montreal Cognitive Assessment total score rs(41) = -.34, p = .027. A Kruskal-Wallis H test revealed significant differences in AFCI total score between the three diagnostic groups, H(2) = 12.30, p = .002. Pairwise post-hoc analysis with Bonferroni correction showed a significant difference between CU and MCI (p = .001). The difference in AFCI total score between SCD and MCI was in the expected direction, but did not achieve statistical significance with correction, (p = .068). As expected, there was no statistically significant difference between CU and SCD (p =.353).
Conclusions:
In this pilot sample (data collection is ongoing), the AFCI showed promise as a brief, clinically useful functional capacity instrument that is easily administered during a clinical interview or completed by knowledgeable informants. Results can help identify compromised decision-making in at-risk older adults to aid the prevention of common safety issues within this vulnerable population. Ongoing research will extend preliminary investigation of validity and further inform the utility of AFCI in both diagnostic and interventional contexts
This study aimed to explore the possibility of using the Figure Weights subtest of the Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V) as an embedded validity test (EVT).
Participants and Methods:
We conducted a retrospective cohort study of patients seen in the Johns Hopkins All Children’s Hospital (JHACH) Neuropsychology program between 2015 and 2019. Patient age ranged from 6-15 years (median age 11 years). All patients were administered the WISC-V as a portion of their neuropsychological evaluation. The sample included 75 patients who were generally male (63%), White (77%), English dominant (97%), and right-handed (81%).
Results:
Effort determination based on RDS identified more patients as having invalid effort. Clinicians identified only 7% of patients with invalid effort; whereas, 16% of patients with invalid effort were identified using the WISC-V RDS. Although patients having valid effort generally performed better on all WISC-V subtests, no significant differences between groups were found. Over 90% of patients were able to get items 1-10 correct on the WISC-V Figure Weights subtest regardless of their effort determination. WISC-V Figure Weights item analysis showed participants in the invalid group sometimes answered more difficult questions correctly while failing easier items which supports inconsistent effort. Further statistical analyses, including discriminant validity tests, were unable to be completed given the study was underpowered due to significant disparity between effort groups.
Conclusions:
This study shows support for WISC-V Figure Weights subtest items 1-10 as an embedded EVT given these items were sufficiently easy to pass regardless of whether participant gave valid or invalid effort. As this is an exploratory study, results will need to be replicated in other pediatric samples. Additionally, the discriminant ability of the WISC-V Figure Weights subtest EVT will need to be further investigated.
Agricultural workers are immersed in environments associated with increased risk for adverse psychiatric and neurological outcomes. Agricultural work-related risks to brain health include exposure to pesticides, heavy metals, and organic dust. Despite this, there is a gap in our understanding of the underlying brain systems impacted by these risks. This study explores clinical and cognitive domains, and functional brain activity in agricultural workers. We hypothesized that a history of agricultural work-related risks would be associated with poorer clinical and cognitive outcomes as well as changes in functional brain activity within cortico-striatal regions.
Participants and Methods:
The sample comprised 17 agricultural workers and a comparison group of 45 non-agricultural workers recruited in the Northern Colorado area. All participants identified as White and non-Hispanic. The mean age of participants was 51.7 years (SD = 21.4, range 18-77), 60% identified as female, and 37% identified as male. Participants completed the National Institute of Health Toolbox (NIH Toolbox) and Montreal Cognitive Assessment (MoCA) on their first visit. During the second visit, they completed NIH Patient-Reported Outcomes Measurement Information System (PROMIS) measures and underwent functional magnetic resonance imaging (fMRI; N = 15 agriculture and N = 35 non-agriculture) while completing a working memory task (Sternberg). Blood oxygen-level dependent (BOLD) response was compared between participants. Given the small sample size, the whole brain voxel-wise group comparison threshold was set at alpha = .05, but not otherwise corrected for multiple comparisons. Cohen’s d effect sizes were estimated for all voxels.
Results:
Analyses of cognitive scores showed significant deficits in episodic memory for the agricultural work group. Additionally, the agricultural work group scored higher on measures of self-reported anger, cognitive concerns, and social participation. Analyses of fMRI data showed increased BOLD activity around the orbitofrontal cortex (medium to large effects) and bilaterally in the entorhinal cortex (large effects) for the agricultural work group. The agricultural work group also showed decreased BOLD activity in the cerebellum and basal ganglia (medium to large effects).
Conclusions:
To our knowledge, this study provides the first-ever evidence showing differences in brain activity associated with a history of working in agriculture. These findings of poorer memory, concerns about cognitive functioning, and increased anger suggest clinical relevance. Social participation associated with agricultural work should be explored as a potential protective factor for cognition and brain health. Brain imaging data analyses showed increased activation in areas associated with motor functioning, cognitive control, and emotion. These findings are limited by small sample size, lack of diversity in our sample, and coarsely defined risk. Despite these limitations, the results are consistent with an overall concern that risks associated with agricultural work can lead to cognitive and psychiatric harm via changes in brain health. Replications and future studies with larger sample sizes, more diverse participants, and more accurately defined risks (e.g., pesticide exposure) are needed.
The Boston Naming Test (BNT) is a 60-item confrontation naming task requiring participants to name a series of pictures. Prior research has shown that bilingual children have smaller vocabularies than monolinguals and that this effect continues into adulthood. Numerous studies have confirmed that bilingual adults name fewer pictures correctly than monolinguals on the BNT. Research also shows that self-reported workload correlates with neuropsychological test performance and that estimates of workload provide additional information regarding cognitive outcomes. Hardy and Wright (2018) conditionally validated a measure of perceived mental workload called the NASA Task Load Index (NASA-TLX; Hart & Staveland 1988) with healthy adults on a neuropsychological test (i.e., the Tower of Hanoi). Research also shows that bilinguals report higher perceived workloads on cognitive tasks compared to monolinguals. Although this work has recently extended to other tests, to our knowledge, the workload profile of the BNT remains relatively unexplored. We evaluated BNT performance and perceived workload via the NASA-TLX in monolinguals and bilinguals. We predicted that monolinguals would outperform bilinguals on the BNT, but that bilinguals would report higher workloads.
Participants and Methods:
The study sample consisted of 84 healthy participants (36 monolinguals, 48 bilinguals) with a mean age of 28.94 (SD = 10.76). Participants completed the standard 60-item BNT in English. The NASA-TLX scale was utilized to evaluate perceived workload across six subscales. The NASA-TLX was also completed in English after the completion of the BNT. ANOVAs were used to test BNT performance and perceived workload ratings between our language groups.
Results:
We found that monolinguals performed better on the BNT compared to bilinguals, p =.001, np2 = 24. However, bilinguals reported exerting more effort when completing the BNT compared to monolinguals, p =.002, np2 = .11. Additionally. bilinguals also experienced more frustration when completing the BNT compared to monolinguals, p =.034, np2 = .05.
Conclusions:
As expected, results revealed that monolinguals outperformed bilingual participants on the BNT. However, bilinguals exerted more effort on the BNT and reported the BNT to be more frustrating. A possible reason for bilinguals underperforming and reporting higher perceived workloads on the BNT may be because correct responses were only accepted in English. This may have caused bilingual speakers to exert increased effort to complete the task in a non-native language. In turn, this increased effort likely increased cognitive load and led to higher frustration levels. Further research is needed to confirm our findings and support the idea that bilingualism leads to perceiving greater effort and frustration, and to determine whether there are subgroup differences in BNT performances among bilingual individuals (e.g., English learned as a first language compared to English learned as a second language).
A common neuropsychological task used is the Digit Span, known as a test of attention and working memory. The Digit Span Forward (DS-F) task evaluates attention; meanwhile, the Digit Span Backward (DS-B) and Sequencing (DS-S) evaluate working memory. Research shows that persons that speak multiple languages demonstrate better attention and working memory abilities compared to monolingual speakers. The NASA Task Load Index (NASA-TLX) was conditionally validated by Hardy and Wright (2018) to measure perceived mental workload. Research also shows that bilinguals report higher perceived workloads on cognitive tasks compared to monolinguals. With that said, it was hypothesized that bilinguals would demonstrate better performances on Digit Span tasks compared to monolinguals. Additionally, it was hypothesized that bilinguals would report higher perceived workloads on all digit span tasks compared to monolinguals.
Participants and Methods:
The sample consisted of 29 psychologically and neurologically healthy participants with a mean age of 29.66 (SD = 7.14). Participants were divided into two groups: English monolingual speakers (n = 10) and English and other language bilingual speakers (n = 19).
Participants completed all the subtests of the Digit Span (i.e., DS-F, DS-B, DS-S) in English. The NASA-TLX was used to measured DS-F, DS-B, and DS-S perceived workloads. The NASA-TLX was completed after each Digit Span subtest in English. We used ANOVAs to evaluate DS-F, DS-B, and DS-S performance and their perceived workload between our language groups.
Results:
We found no significant differences between language groups on the DS-F. However, the bilingual group reported the DS-F to be more temporally demanding and frustrating compared to the monolingual group, p’s < .05, nps2 =.14-.15. Next, we found that the monolingual group outperformed the bilingual group on the DS-B task, p = .027, np2 = .17. On the other hand, the bilingual group reported the DS-B task to be more temporally demanding and frustrating compared to the monolingual group, p’s < .05, nps2=.18-.20. Finally, on the DS-S task the monolingual group outperformed the bilingual group, p = .043, np2 = .14. Meanwhile, the bilingual group reported the DS-S task to be more mentally and temporally demanding compared to the monolingual group, p’s < .05, nps2=.18-.34.
Conclusions:
Contrary to our hypothesis, results show that monolinguals outperformed bilinguals on DS-B and DS-S, but not DS-F. However, as expected, bilinguals did report higher perceived workloads (e.g., frustration) on Digit Span tasks compared to monolinguals. A possible explanation could be that bilinguals’ efforts to remember the numbers were more taxing compared to monolinguals’ because they had to inhibit from verbally responding in their other language. Rushing bilinguals to provide responses, ultimately developing higher perceived workloads on Digit Span tasks. Future work should investigate if time perspective may be influencing bilingual speakers Digit Span performances and perceived workloads.
The SIN3A gene mutation is a rare genetic mutation with few reported cases (< 1 in 1,000,000) associated with autosomal dominant Witteveen-Kolk Syndrome, a rare neurodevelopmental syndrome only discussed in the past decade (Witteveen et al., 2016). This syndrome can be characterized by short stature, distinctive facial features, developmental delay, mild intellectual disability, autism spectrum disorder, hypotonia, and seizures (Balasubramanian et al., 2021), however a paucity of information regarding comprehensive neuropsychological functioning in these individuals is present in the literature, and even this recent review study noted that intellectual ability was rarely assessed through formal testing (6 of 28 cases). We present a case, “M”, to help describe a potential pattern of neurocognitive strengths and weaknesses in this population.
Participants and Methods:
The participant, “M”, was diagnosed with a de novo mutation in the SIN3A gene at the age of 11 years with previous diagnoses of global developmental delay, hypotonia, autism spectrum disorder, specific learning disability in mathematics, developmental coordination disorder, and attention deficit hyperactivity disorder. M was seen for a comprehensive neuropsychological evaluation at 11 years of age at an academic medical center, which consisted of comprehensive review of medical and school records, parent and child interview, questionnaires, and performance-based testing.
Results:
M’s verbal and language skills emerged as a particular strength. Her verbal memory, verbal fluency, and verbal comprehension skills were all in the average range or above, as were reading, reading comprehension, and spelling skills. M demonstrated a pattern of notable weaknesses in visuospatial skills, including impaired visuospatial reasoning, visuomotor integration, visual scanning, visual perception, and visual memory. Additionally, M demonstrated a slight weakness in Low Average mathematics skills. M also demonstrated fine motor impairment with impaired speed, coordination, and accuracy. Although immediate auditory attention was noted to be average, performance on a test of sustained attention indicated a moderate persistence of attention concerns. Likewise, M’s mother reported her to be very elevated on symptoms of both attention and hyperactivity/impulsivity. Finally, M’s mother reported elevated concerns related to M’s peer relations and atypical behaviors and below average adaptive skills.
Conclusions:
Due to the rarity of M’s de novo mutation in the SIN3A gene, M’s pattern of weaknesses in visuospatial skills, fine motor skills, attention/executive functioning, and social skills, as well as her strengths in verbal skills can aid in further understanding the pattern of cognitive strengths and weaknesses in children with a mutation in the SIN3A gene. Additionally, given her mild weaknesses in math skills, it is possible that M’s performance on mathematics assessments may be impacted by her visuospatial weakness and thus better conceptualized as a visuospatial issue rather than a learning disability. Overall, this case can aid in identifying specific cognitive risk factors, such as visuospatial skills, in this population and lead to more targeted assessment and intervention, and highlights the importance of more nuanced cognitive evaluation as reporting of a general cognitive ability score alone may obscure underlying patterns of cognitive strength and weakness.