Reading and math are related generally, and comorbidly at the level of disability. Language, working memory (WM), processing speed (PS), and attention are four domain-general processes important for reading and math separately (Floyd et al., 2003; Fuchs et al., 2010; McDougal et al., 2022). Research of shared cognitive predictors is rarer (e.g., Cirino et al. 2018; Peterson et al., 2017). Therefore, the present study aims to evaluate these factors' shared contribution to both reading and math (both timed and untimed) among middle school students. We hypothesized that each of the four cognitive domains would relate significantly to all academic outcomes, and that together, they would account for the relationship between math and reading performance. We also expected that language and attention would be more relevant for reading than for math; that WM would be more relevant for math than for reading, and that PS would be more relevant for timed than for untimed measures.

Two-hundred-eighteen Hispanic middle school students completed cognitive assessments on visual attention, visual search, objective attention, behavioral attention, phonological awareness, rapid automatized naming, vocabulary, WM, and PS. Timed and untimed reading and math were measured using the KTEA-3 (Kaufman & Kaufman, 2014). Latent variables were formed, and analyses were conducted via path analyses.

A measurement model delineated language, attention, WM, and PS with nine latent variables with 20 indicator variables, with good model fit. Variables from each of the four domains significantly correlated with both reading and math outcomes. However, for untimed (overall R2 = 47.8%) and timed reading (overall R2 = 56.8%), language and behavioral attention were the only unique predictors. For untimed math (overall R2 = 51.8%), WM, PS, and behavioral attention were unique predictors. Finally, for timed math (overall R2 = 26.1%), WM was the only unique predictor. Reading and math were correlated with one another, whether untimed (r = .43) and timed (r = .40). Although the set of predictors reduced these correlations, the residual relation between reading and math remained significant, for both untimed (p = .002) and timed (p = .037) outcomes. When specific paths were constrained, language was found to be more important for untimed reading than untimed math but was similarly important for timed outcomes. WM was more important for math than reading, whether timed or untimed. Attention and PS were similarly important for achievement outcomes.

The present work supported prior work documenting the relation of reading and math, and the relation of language, attention, WM, and PS to both types of achievement. However, unique contributions were much more sporadic, and some, but not all, cognitive domains showed differential prediction. These results highlight the role of shared variance among predictors (Cirino et al., 2018; Cirino et al., 2019), and raise questions as to other sources of the overlap between reading and math, whether timed or untimed. The nature of the sample also raises interesting replicability and generalizability issues but advances our understanding of the relation between cognitive and achievement skills.

Historically, numerous studies have supported a male advantage in math. While more recent literature has shown that the gender gap is either decreasing or non-significant, a gender difference remains for higher level math (high school and college) (Hyde et. al. 1990; Casey et. al. 1995). It is known that both cognitive and non-cognitive factors influence math performance. There is little evidence for gender differences in working memory (Miller & Bichsel, 2004), which is a key predictor for mathematics. There is, however, evidence for gender differences in the non-cognitive domain, including math anxiety, with females having higher levels (Miller & Bichsel, 2004; Goetz, et. al. 2013). This study evaluates gender differences in both standardized and everyday math performances, and the way that cognitive and non-cognitive factors impact math. The study is focused on a very understudied group with high levels of math difficulty, namely community college students. We expected to find gender differences in math, and expect these to be in part accounted for by gender differences in strong mathematical predictors, particularly non-cognitive factors.

Participants included 94 community college students enrolled in their first math class (60 female; 34 male). Participants were administered the Kaufman Test of Educational Achievement - 3rd edition (KTEA3): Math Computation (MC) and Math Concepts Application (MCA) subtests, as well as an original Everyday Math (EM) measure which assessed their math ability in the context of common uses for math (e.g., financial and health numeracy). Additional measures included math anxiety, self-efficacy, and confidence. Finally, complex span working memory tasks were administered to assess verbal and spatial working memory. Analyses were performed using correlation and regression to examine relationships between the cognitive and non-cognitive variables and standardized and everyday math measures.

Correlations showed that all cognitive and non-cognitive variables are significantly correlated with all three math measures (all p < .05). There were no significant gender differences for any of the math measures, nor the working memory, or non-cognitive measures. Regression showed that across all three math outcomes, math anxiety and verbal working memory are significantly predictive of math performance. Overall R2 values were significant (range 27% to 37%, all p < .001). Working memory and math anxiety were unique predictors in all three regressions (all p < .05), but other non-cognitive variables such as self-efficacy did not show unique prediction (all p >.05).

There was no evidence for gender differences on any studied variable. This stands in contrast to prior studies, although few studies have included community college students. On the other hand, both cognitive and non-cognitive factors were complimentary in the prediction of math outcomes, which is consistent with prior work. Among non-cognitive predictors, math anxiety was particularly prominent. This study clarifies prior conflicting work regarding gender differences, and highlights the role of both math anxiety and working memory as relevant for multiple math outcomes.

This longitudinal study investigates whether reading strategies are influenced by the orthographic depth of languages, specifically Spanish or Cantonese, acquired through enrollment in bilingual immersion programs. Spanish shares an alphabet with English and is considered a phonologically transparent language (Sun et al., 2022). Research has shown that second language learners of Cantonese, an opaque language, performed better on orthographic awareness tasks that involve whole-word visual information processing (Wang and Geva, 2003). We hypothesize that students enrolled in a bilingual immersion program will outperform peers in general education (GENED) on selected reading tasks. More specifically, those in Spanish-immersion programs will perform better on English tasks involving phonological processing; whereas those in Cantonese-immersion programs will perform better on single-word/character processing tasks.

Participants (n=102) were native English speakers recruited from the San Francisco Unified School District. Our sample included 42 females and 60 males. Thirty-nine identified as White, 33 Mixed Race, 25 Asian, 4 Latinx, and 1 Black. Thirty-nine children were in GENED, 33 in Spanish immersion programs (Sp), and 30 in Cantonese immersion programs (Cn). Each child was assessed on a core language/behavioral battery at Kindergarten (T1) and 2nd-3rd grade (T2). Time 2 participants were between 7 and 9 years old.

Those that scored at least one standard deviation below the mean (SS=85) on a nonverbal intelligence screener (KBIT-2 Matrices) were excluded to mitigate confounds of intellectual disabilities. Groups' performance in English was compared on English tasks involving phonological processing (CTOPP-2 Blending Words and Elision) and single-word/character information processing tasks (WJ-IV Letter Word Identification and KABC-II Rebus).

Simple main effects analysis showed that time did have a statistically significant effect on test performance (p <0.001). At T2, analysis revealed a significant impact of school enrollment on Blending Words [F (2, 51.0) = 4.19, p = 0.018]. As predicted, post-hoc analysis revealed the students enrolled in the Spanish-immersion program significantly outperformed those in general education on this task. Across the other three tasks, those enrolled in Spanish and Cantonese immersion programs performed as strong as or better than those in GENED, but the variability was not statistically significant.

This study uniquely isolated the effects of bilingual education without confounding factors of access to resources of a more heterogeneous socioeconomic sample. Mixed results partially supported our hypotheses: Spanish-immersion participants performed significantly better than those in GENED on one English phonological processing task (Blending Words). Although Cantonese immersion students had a higher mean performance than those in GENED on single-word/-character processing tasks, the variance was not statistically significant. This implies that bilingual education may offer advantages in either reading strategy. According to the literature, characteristics of a language may influence literacy acquisition; thus, subsequent research may continue to examine the effect of learning multiple languages with varying levels of orthographic depth on the development of English reading strategies.

HSCT is increasingly used for curative therapy for patients with high risk hematologic diseases. Existing research regarding the neurocognitive impact of HSCT on pediatric patients is notably variable. One area of identified risk is attention/working memory (WM) [Perkins et al., 2007]. The current study examines the degree to which difficulties in attention/WM are present prior to HSCT, as assessed using parent-report of working memory and cognitive tests of attention span and working memory.

Participants were 19 children and adolescents ages 6-17 years (M= 9.63, SD= 3.22) who were enrolled in a prospective longitudinal study monitoring neurocognitive outcomes in children undergoing HSCT. Participants were eligible for this study if they were 2-18 years old at the time of transplant and had a diagnosis that qualified for an allogenic HSCT. Participants were ineligible if they had a pre-HSCT developmental delay, were non-English speaking, and had a prior HSCT or prior CAR T-cell therapy. Participants were 53% female and 95% Caucasian. Diagnoses in the current study sample included acute lymphoblastic leukemia (n=10), acute myeloid leukemia (n=8), and myelodysplastic syndrome (n=1).

Measures included were the Working Memory Index score from the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al., 2000) and the Digit Span subtest from the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV; Wechsler, 2003) and the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV; Wechsler, 2008).

Mean scores on parent-reported WM scores and cognitive measures of attention/WM fell within normal limits, including the Digit Span Total score (M = 48.42, SD= 6.33), Digit Span Forward score (M = 47.28, SD = 9.9.83), and Digit Span Backward score (M = 48.94, SD = 6.31). However, further analyses suggested that between 11-32% of patients had scores falling at least one standard deviation below the mean on these measures, with more than half of the sample (52.6%) identified with at least one measured weakness in attention and WM. The most commonly identified weakness (33.3% of patients) was Digit Span Forward. Correlations between parent-reported WM issues and cognitive measures of attention and WM were generally strong, with parent report of WM significantly correlated with the Digit Span Total score (r(18)= -0.52, p=.02) and the Digit Span Forward score (r(18) = -0.51, p=.03). No correlations were found between Digit Span Backward and other measures of attention and WM.

There were no significant differences in WM scores between patients with ALL and AML. Additional analyses will examine potential contribution of medical factors (e.g., pre-HSCT treatment) to pre-HSCT performance on measures of attention and WM.

These results suggest that, prior to undergoing HSCT, pediatric patients present with attention and WM issues. This finding has implications for research related to neurocognitive outcomes in HSCT, indicating the need to obtain pre-HSCT cognitive data in this area in order to fully understand potential change after HSCT. In addition, providers may need to consider adapting communication methods with patients during their transplant stay, given potential attention and WM issues within this population.

Pediatric brain tumor (PBT) survivors are at risk for speech (e.g., articulation, prosody, fluency) and language (e.g., vocabulary, grammar, narratives, pragmatics) difficulties (Hodges et al., 2020). It is important to understand what treatment and/or demographic factors are associated with language functioning soon after diagnosis, and what factors are associated with language functioning years after treatment completion. This study characterizes longitudinal language functioning for clinically referred PBT survivors diagnosed in early childhood.

Participants were 48 PBT patients (54% supratentorial, 6% disseminated), 21% with NF-1, who were diagnosed by age 6 (M = 43.2 months, SD 24.5) and received tumor-directed intervention including surgery (85%), chemotherapy (69%), and/or radiation therapy (50%). Hearing concerns existed for 29% of the patients. Age at first neuropsychological evaluation was 2-15 years (M=7.6, SD=3.63), age at second neuropsychological evaluation was 5-19 years (M=12.04, SD=3.86), with an average of 4.42 years (SD=2.37) between evaluations. Patients were 63% male, 77% White, 94% non-Hispanic, and fluent English speakers. Verbal IQ, working memory, fluencies, comprehension, memory, and parent-reported functional communication outcomes were assessed as part of comprehensive batteries. Rates of weak performance (1 SD<Mean) were compared to the expected base rate of 16%.

Group means significantly diverged from age-expected performance by the second evaluation in all domains except semantic fluency. Weakness was identified on at least 1 verbal subtest for 79% of the sample at the first evaluation, and for 85% of the sample at the second evaluation. As a group, patients showed a significant increase in the number of weaknesses identified on performance-based measures from the first to second evaluation [t(47) = -3.60, p <.001]. Over half of the sample showed an increase in the rate of verbal weaknesses identified (56.3%). Those with more weaknesses over time had lower IQ at the initial evaluation [t(36) =-2.61, p=.013]. An increase in the number of weaknesses from first to second evaluation was not associated with tumor type/location, treatment modality, or demographic variables.

Brain tumor diagnosis in early childhood during rapid language development is associated with language impairments soon after diagnosis, and years after treatment completion. Causes for continued and increased impairment are multifactorial and risk cannot clearly be identified by demographic and treatment variables alone. Any early language weakness identification should signal need for intervention as the causes for difficulty are complex and these weaknesses are likely to persist and increase over time.

Norrie disease is a rare, x-linked recessive genetic disorder associated with an NDP gene mutation. Males are predominantly affected. Typical symptoms include vision loss around the time of birth and progressive hearing loss. Cognitive and behavioral abnormalities also occur in 30-50% of individuals, including developmental delays, intellectual disability, cognitive regression, psychosis, and aggression. There is limited research, however, examining the neuropsychological deficits in adulthood resulting from Norrie disease, especially with neuropsychological data and in individuals without other neurological manifestations of the disease, such as seizures. Here, we present the neurocognitive profile of a patient with Norrie disease who presented for a cognitive evaluation in adulthood due to report of more recent memory decline.

Mr. Smith is a Caucasian male in his mid-40's who previously underwent genetic testing and was subsequently diagnosed with Norrie disease. As a result of his diagnosis, he experienced complete vision loss since birth and bilateral hearing loss that began in childhood and gradually worsened in adolescence. Medical history was otherwise unremarkable. Developmental milestones were met on time. Historical intelligence testing conducted in elementary school revealed borderline on one intelligence test to high average performance on other intelligence tests. However, he was retained grades several times due to factors such as behavioral disruptions and academic difficulties. He had been employed as an assembly line worker for many years, but had not worked for 10 years prior to the neuropsychological evaluation. Emotionally, he had a longstanding history of anxiety and endorsed mild anxiety and depression at the time of the evaluation. The patient first noticed memory difficulties in adolescence then noticed further decline four years prior to the neuropsychological evaluation (around when he received a left-ear cochlear implant), which had remained stable since onset.

In the context of low average premorbid intellectual functioning, Mr. Smith's neurocognitive profile was notable for difficulties with alphanumeric set-shifting and abstract thinking, with otherwise preserved cognitive functioning. Weaknesses observed on testing may have represented longstanding weaknesses and did not rise to the level of a cognitive disorder. Affective distress was also suspected to have accounted for some of the cognitive lapses the patient reported experiencing with day-to-day functioning.

The current poster aims to contribute to the limited body of literature examining neuropsychological deficits in adulthood resulting from Norrie disease. This is especially critical given that the long-term cognitive dysfunction of this disorder is relatively unknown and could negatively impact patients' quality of life over time.

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.

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.

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.

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.

Neurofibromatosis type 1 (NF1) is a neurogenetic disorder associated with increased risk of neuropsychological challenges. While research has evidenced associations between environmental factors and neurocognitive development, few studies have examined the role that socioeconomic status (SES) plays on neuropsychological development in NF1. The aim of this study is to examine the relationship between community SES and cognitive/psychosocial outcomes in a neuropsychology clinic sample of pediatric NF1 patients.

The sample consisted of 47 youth with NF1 (M age=11.91, SD=3.69). The sample was 51.1% female, 72.3% White, 19.1% Black/African American, and 4.3% Hispanic. All participants had completed neuropsychological assessments for clinical purposes at an outpatient clinic in an urban, midwestern medical center. Data from neuropsychological measures and demographic information were pulled from records and entered into a de-identified dataset. The Wechsler Intelligence Scales, California Verbal Learning Test (CVLT), Woodcock Johnson Test of Achievement, and parent- and teacher-report versions of the Behavior Assessment System for Children (BASC) and the Behavior Rating Inventory of Executive Function (BRIEF) were used to examine broad neuropsychological functioning. The Area Deprivation Index (ADI) measures SES at the community level, as opposed to the individual level. It is composed of 17 factors related to education, poverty, employment, and housing. This information is used to assign index scores by zip code, with scores on a scale of 110 and 10 indicating the highest level of socioeconomic disadvantage. Mean ADI for this sample was 4.02 (SD=1.93).

Mean neurocognitive scores were consistently in the low average to average range. Parent and teacher scores on the BASC were in the average range. Mean scores on the BRIEF indicated Global Executive Composite scores in the mildly and moderately elevated range for parents and teachers, respectively. Correlational analyses revealed significant associations between ADI scores and immediate recall performance on the CVLT (Trials 1-5; r=.37; p=.03) and the BRIEF Planning and Organization subscale (r=.35; p=.02). Both remained significant after controlling for FSIQ (CVLT: rFSIQ=.49, p=.003; BRIEF: rFSIQ=.38; p=.02).

Mean cognitive scores for the sample are consistent with existing literature demonstrating that individuals with NF1 are at risk of reduced functioning in several domains. Sample mean ADI of 4 indicates a relatively low level of disadvantage in this sample., ADI was significantly associated with two variables, and greater deprivation was associated with better list learning performance. This suggests that the role of community SES is likely nuanced in how it impacts neurocognitive development. Results provide mild evidence of an association between ADI and learning and planning/organization. However, limitations to the current study, including a small sample size, and the retrospective nature, likely limits a more detailed understanding of the true relationship between community resources and cognitive and psychosocial outcomes among children with NF1. Future research comparing larger low and high ADI samples is necessary to fully examine the relationship between these factors. With better understanding of how community SES may limit or support neurocognitive and psychological growth in this population, more effective interventions can be designed for this group whose members are at notable risk for cognitive and psychological challenges.

Fahr’s disease is a rare genetic neurological disorder characterized by abnormal idiopathic calcification of the basal ganglia, typically with extrapyramidal symptoms, speech difficulty, behavioral disturbances, and progressive neurologic dysfunction. A small number of case reports have explored the neuropsychological profile of Fahr’s disease patients, and even fewer have followed the course of neuropsychological functioning over time.

A 53-year-old Asian woman presented for a neuropsychological reevaluation (2021) after experiencing a recurrence of memory difficulties and mood changes. Relevant medical history was significant for systemic lupus erythematosus (SLE) and Fahr’s disease. Following an episode of acute confusion, the patient underwent a head CT (2019) which revealed extensive calcification throughout the cerebellum, central pons, and periventricular and subcortical white matter, suggestive of Fahr’s disease. Two months later, she underwent an initial neuropsychological evaluation (2019), which demonstrated prominent attention and processing speed deficits contributing to variably impaired new learning and memory along with spatial planning and problem-solving difficulties. The etiology of her cognitive deficits was determined to likely reflect metabolic and immune instability, consistent with her history of SLE and Fahr’s disease. An updated CT (2021) revealed increased calcification throughout the bilateral corona radiata, basal ganglia, cerebellar hemispheres, and midbrain, which was determined to be compatible with progressive Fahr’s disease.

The patient’s neurocognitive profile from current neuropsychological testing (2021) was marked by notable deficits in attention and processing speed, delayed memory, problem solving, visuospatial reasoning, and motor dexterity. Compared to her initial evaluation, her cognitive profile remained stable save for a slight decline in processing speed. The largest change was seen within the psychiatric domain. Self-reported depressive symptoms involving anhedonia, concentration difficulties, and anxiety symptoms involving nervousness and tension were more pronounced in her current evaluation. In addition, she endorsed an increase in apathy compared to her initial evaluation.

The cognitive profile seen in this patient is consistent with the current literature relating to the clinical sequelae of Fahr’s disease in patients that eventually went on to develop dementia. Despite an increase in brain calcification seen on CT imaging over an 18-month interval, the patient’s neurocognitive profile remained relatively stable. An increase in psychiatric symptoms appeared to be the most prominent change over repeated neuropsychological assessment, which elucidates the heterogenous course of Fahr’s disease from a neuropsychological perspective. Further exploration of this disorder is warranted to better understand the clinical progression of symptoms over time.

Children with neurofibromatosis type 1 (NF1) commonly have academic problems. While the neuropsychological profile of children with NF1 is variable, NF1 results in difficulties in a variety of cognitive domains including intellectual functioning, attention, executive functioning. Previous studies have suggested that cognitive functioning may relate to academic functioning in children with NF1; however, the evidence is limited and warrants further examination. Thus, this study will investigate the contribution of several cognitive domains (intellectual functioning, attention, working memory) on academic performance for school age children with NF1.

The association between cognitive functioning and academic performance was examined for school age children with NF1 (n = 40; ages 9-13). Intellectual functioning was assessed using the Differential Abilities Scales, Second Edition School-Age Version (DAS-II) General Conceptual Ability (GCA) score. Attention was examined using the DAS-II Recall of Digits-Forward (DF) subtest and Flanker Inhibitory Control and Attention Test (Flanker). Working memory was assessed using the DAS-II Recall of Digits-Backward (DB) subtest. Academic performance was measured using the Wechsler Individual Achievement Test, Third Edition (WIAT-III) Word Reading (WR), Pseudoword Decoding (PD), Reading Comprehension (RC), Numerical Operations (NO), and Math Problem Solving (MPS) subtests.

WR was significantly associated with DAS-II GCA (rs(38) = .689, p < .001) and DF (rs(38) = .470, p = .002) in addition to Flanker (rs(34) = .364, p = .029), but not DAS-II DB (rs(38) = .292, p = .072). PD was significantly correlated with DAS-II GCA (rs(38) = .695, p < .001), DF (rs(38) = .394, p = .012), and DB (rs(38) = .474, p = .002), but not Flanker (rs(34) = .306, p = .070). RC was significantly associated with DAS-II GCA (rs(38) = .483, p = .002) and DF (rs(38) = .346, p = .029), but not DAS-II DB (rs(38) = .306, p = .055) and Flanker (rs(34) = .269, p = .112). NO was significantly correlated with DAS-II GCA fc(38) = .777, p < .001), DF (rs(38) = .555, p = < .001), and DB (rs(38) = .576, p < .001) as well as Flanker (rs(34) = .386, p = .020). MPS was significantly associated with DAS-II GCA (rs(38) = .685, p < .001), DF (rs(38) = .586, p < .001), and DB (rs(38) = .543, p < .001), in addition to Flanker (rs(34) = .420, p = .011). Significant associations had medium to large effect sizes, while non-significant correlations had small to medium effect sizes. Notably, most of the non-significant correlations had trend-level statistical significance.

Concurrent cognitive functioning (intellectual functioning, attention, working memory) was associated with reading-related and mathematics functioning in school age children with NF1. Notably, intellectual functioning had the strongest association with academic performance across all reading-related and mathematics tasks. Future studies should examine the association between academic performance and additional cognitive domains (e.g., language, visuospatial abilities) in children with NF1 across a wider age range to allow for examination of developmental patterns.

Depression has a well-established negative effect on cognitive functioning. Variations in the apolipoprotein e (APOE) and brain-derived neurotrophic factor (BDNF) genes likely contribute to this relationship. APOE4 and the BDNF Val66Met polymorphism are independently associated with late-life depression and cognitive dysfunction. The current study investigated the moderating effects of APOE4 and BDNFMet (i.e., the presence of the BDNF Val66Met polymorphism) on the relationship between depression and cognitive functioning in older adults.

The sample included 103 older adults drawn from two clinical trials who were recruited from the VA Palo Alto Health Care System (VAPAHCS) and the Stanford/VA Alzheimer’s Disease Center. Depression was diagnosed using the Mini Neuropsychiatric Interview for the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV). The presence of an APOE4 and BDNFMet allele were dichotomized (i.e., yes/no) and determined using venipuncture. A comprehensive neuropsychological battery was used to assess attention (RAVLT Trial 1, WAIS-IV DSF), processing speed (TMTA, SDMT, Stroop Word, Stroop Color), working memory (WAIS-IV DSB, DSS), visuospatial functioning (JLO), language (VNT), memory (RAVLT Delayed Recall, WMS-IV Logical Memory II), and executive function (TMTB, Stroop Color-Word). Separate moderation analyses were conducted with depression as the predictor and APOE4 or BDNFMet status as the moderator using the SPSS PROCESS macro v4.0. Age was a covariate for models with processing speed, memory, language, and executive function as outcome variables.

Participants were largely male (93%) and White (75%). Ten percent met criteria for depression, 26% were APOE4 carriers, and 32% were BDNFMet carriers. The overall model examining depression, APOE4, and memory was significant (p < .01, R2 = .14). Depression was associated with lower memory performance (p < .05), however, APOE4 was not a significant moderator (p > .05). Similarly, the overall model examining depression, APOE4, and language was also significant (p < .05, R2 = .10). While the direct effects of depression and APOE4 on language were nonsignificant (p > .05), there was a significant two-way interaction between APOE4 and depression (p = .03). The overall model with depression, BDNFMet, and memory was significant (p < .001, R2 = .18). While neither depression nor BDNFMet had significant direct effects on memory (p > .05), a two-way interaction emerged between depression and BDNFMet (p = .05). Simple slopes analyses were used to further investigate significant interactions. Depression, APOE4, and BDNFMet did not significantly impact attention, processing speed, working memory, visuospatial functioning, or executive function, and no significant interactions were noted among variables. BDNFMet had no direct impact on language.

APOE4 and BDNFMet were found to differentially moderate the relationship between depression and cognition. Specifically, APOE4 carriers with depression had worse language performance compared to those who were healthy, depressed, or APOE4 carriers. BDNFMet carriers with depression performed worse on measures of memory compared to those who were healthy, depressed, or BDNFMet carriers. The treatment of depression in APOE4 and BDNFMet carriers may reduce associated cognitive impairments. Limitations and future implications are also discussed.

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.

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.

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.

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.

Children who suffer from brain insults (i.e., traumatic brain injury (TBI), chemotherapy and radiation treatment for brain tumors) are susceptible to late-emerging cognitive sequelae. Even with similar neurological risk variables, variability in long-term cognitive outcomes remains an area of investigation for researchers of acquired brain injury. Given the potential for genetic factors to influence response to chemoradiation, researchers have examined associations between germline, inherited, single nucleotide polymorphisms (SNPs), and neurocognitive outcomes for cancer survivors. Children who sustain an uncomplicated mild TBI generally recover without long-term neuropsychological consequences. However, TBI survivors have overlapping mechanism categories with cancer survivors through secondary injury variables that can be influenced by genomic variation (e.g., oxidative stress and neuroinflammation). Furthermore, the study of genomic vulnerability is limited in heterogenous groups of pediatric TBI survivors. This study aims to identify associations between genotype and long-term neurocognitive outcomes for acquired brain injury survivors by utilizing machine learning to uncover pathophysiological similarities and differences between groups.

Fourteen brain tumor survivors, 139 traumatic brain injury survivors, and 63 healthy, age-matched controls completed the Letter N-back task to obtain performances on core neurocognitive skills (attention, working memory, and processing speed). Ten targeted genotypes were examined across five pathophysiological pathways (neurotransmission, oxidative stress, neuroinflammation, plasticity, growth and repair, and folate metabolism). Data were trained and tested utilizing three regression machine learning models. Mean estimated error and R2 were generated for each neurocognitive outcome. A feature importance score for models with positive variance was generated to determine how predictive a given SNP is for neurocognitive outcomes.

Genotype only accounted for a small amount of variance in cognitive outcomes when all clinical groups were combined. The mean absolute error for the best-fitting models from analyses where all groups were combined decreased when groups were examined separately; however, the differences in model R2 values were not significant. The relationship between brain tumor survivors and processing speed performance depended on genotype. Two SNPs had positive feature importance at the interaction level (rs58225473 and rs1801394). These SNPs are located on the CACNB2 and MTR genes and have functional consequences for neurotransmission and folate metabolism. Models of traumatic brain injury survivors did not explain positive variance and could not be examined for feature importance. Additionally, even when removing the only mechanism of action that should not be relevant for TBI survivors (folate metabolism polymorphisms), the TBI models still did not explain positive variance.

Findings of the importance of two key SNPs on MTR and CACNB2 genes align with recent systematic reviews, which found associations between these polymorphisms and neuropsychological outcomes in more than one group or cohort of pediatric cancer survivors. Models for TBI survivors were limited by the heterogeneity of the group and ceiling effects on performance. An understanding of genetic vulnerabilities influenced by treatment and injury-related factors in acquired brain injury will inform our understanding of the developing and recovering childhood brain. The current study is an initial contribution to this goal and highlights the utility of machine learning methodology for future studies that examine the influence of genetic heterogeneity in pediatric acquired brain injury.

Wiedemann-Steiner syndrome (WSS) is a rare Mendelian disorder of epigenetic machinery caused by a mutation in KMT2A, with hallmark features that include intellectual disability and developmental delay. Animal models have helped identify the critical roles KMT2A plays in prefrontal neuron maturation and executive function (i.e. working memory) development. However, the neurobehavioral phenotype of individuals with WSS, including executive functioning, remains poorly characterized. Accordingly, this study aimed to 1.) examine the neurobehavioral profile (adaptive, psychosocial, and executive functioning) associated with WSS and 2.) the correlations between executive functioning and these domains.

A total of 25 mothers of individuals with WSS (13 females, Mean age=12.78 years, SD=7.88) completed a combination of parent-informant questionnaires. The caregivers completed the Adaptive Behavior Assessment System 3rd Edition (ABAS-3), the Strengths and Difficulties Questionnaire (SDQ), and a version of the Behavior Rating Inventory of Executive Function (BRIEF). Descriptive analyses were conducted to examine proportion of the sample with clinically significant concerns on the BRIEF and SDQ, and low to very low adaptive skills based on ratings on the ABAS-3. Partial correlations were computed to examine the relationships between overall executive functioning (BRIEF General Executive Composite, GEC) with adaptive domains (ABAS-3 Conceptual, Practical, Social), and psychosocial functioning (SDQ Emotional Problems, Conduct Problems, Hyperactivity, Peer Relations, Prosocial Behaviors) while accounting for age. Associations that survived Benjamin Hochberg correction are reported.

Of our sample, 64% were rated in the very elevated range for executive functioning problems (BRIEF GEC), with a greater proportion endorsing clinically significant concerns with behavior regulation (68%) relative to cognitive regulation (48%). Majority of participants was rated in the low or very low range for ABAS-3 General Adaptive Composite (72%), with a greater proportion showing problems in Practical (64%) and Conceptual Domains (64%) relative to Social Domain (44%). Among those who completed the SDQ, caregiver ratings implicate elevated Total Problems (90%) with greater concerns observed in Emotional Problems (62%), Hyperactivity (81%) and Peer Relationship difficulties (95%). After controlling for age, executive functioning difficulties were associated with weaker skills in the Conceptual (r=-0.56, p=0.003), Social (r=-0.44, p=0.028) and Practical domains (r=-0.51, p=0.009); as well as more Hyperactivity (r=0.49, p=0.025) and Conduct problems (r=0.58, p=0.007). Specifically, day-to-day challenges with executive functions were related to weaker adaptive skills in Self-Care (r=-0.54, p=0.006), Self-Direction (r=-0.53, p=0.007), and Communication (r=-0.49, p=0.01).

Individuals with WSS are at risk for executive functioning deficits, which in turn may impact the development of and/or day-today application of adaptive skills and behavior regulation. Future clinical research should further explore the development and neurophysiology of executive functions among those with WSS with multidisciplinary methods, including behavioral, cognitive and neurobiological metrics. Those working with individuals with WSS may consider executive functioning interventions, which may yield indirect benefits to self-regulation and daily use of life skills.

The purpose of the present study is to characterize the trajectory of internalizing and externalizing behaviors in children with NF1 longitudinally from the early childhood period to the school age period on a broad psychosocial norm-referenced measure using linear mixed model growth curves.

Children with NF1 (n=28) were seen at least once between the ages of 3-8 years old and then again between the ages of 9-13 years old. Parents completed the Behavior Assessment System for Children (BASC) Second Edition; the version of the BASC administered depended on age (i.e., preschool form or child form). Linear mixed model growth curve analyses were used to examine the developmental trajectories of children with NF1 on the following scales, which were selected due to findings in the literature: Externalizing Problems, Internalizing Problems, Hyperactivity, Anxiety, Depression, Attention, and Executive Function. T-scores (M=50, SD=10) were used. Higher scores indicate more challenges.

By using loess lines to qualitatively describe the patterns of ratings across time, it is evident that most scales (Externalizing Problems, Internalizing Problems, Hyperactivity, Attention Problems, Executive Function) demonstrated curvilinear trajectory patterns, with scores peaking in the 8-10-year-old range, then decreasing again. However, there was no statistically significant effect of age on any of the scales. Notably, trajectories largely included standard scores within the normative range (T-scores between 45-55).

Overall, the models also suggest that most children with NF1 are within the average range of functioning on all scales examined across the childhood period. Furthermore, with the exception of the Depression and Anxiety scales, ratings tend to peak around the 8-10-year period, and then decrease into early adolescence. Thus, when working with patients with NF1, it may be the case that clinicians note relative increases in challenges across these domains in late childhood, though these challenges may decrease over time during this age range. Linear growth curve modeling identified that the developmental trajectories of internalizing and externalizing behaviors of children with NF1, as rated by parents, remain stable across the childhood period. Importantly, low power may have contributed to the lack of observed age effects. Longitudinal research would be beneficial to capture patterns that may emerge in adolescence or adulthood.

To explore the usefulness of the Lowenstein-Acevedo Scales for Semantic Interference and Learning (LASSI-L) [Crocco et al, 2013], a novel memory-based cognitive stress test capitalizing on semantic interference, in Huntington’s Disease (HD).

12 healthy adults (HA) and 14 individuals with manifest HD were administered the LASSI-L as part of an annual research visit with the UCSD Huntington’s Disease Clinical Research Center (HDCRC.) Participants in each group were well matched with regard to age and education. Individuals with manifest HD had an average MoCA score of 26, total functional capacity score of 10, and total motor score of 21 suggesting that they were in the early stages of HD. The LASSI-L examines different types of semantic interference that occur in the learning/encoding process. There are free and cued recall trials for two lists of semantically related words with certain trials specific to different aspects of semantic interference including proactive, retroactive, and failure to recover from proactive interference. T-tests for all recall trials and number of intrusions for each trial were conducted between HA and those with HD to examine whether HD renders one more prone to semantic interference in both encoding and retrieval memory processes.

Individuals with HD recalled fewer words on average than HA across all recall trials except for the initial free recall of the first word list. HD individuals recalled significantly fewer (∼1.5) words during the initial (t=-2.8, p=.005, Cohen’s d=2.7) and secondary (t=-2.9, p=.003, Cohen’s d=2.6) cued recall trials from the words on the first list. Individuals with HD also recalled significantly fewer words on initial free recall (t=-2.9, p=.003, Cohen’s d=2.6) and cued recall trials of the second list, with the initial cued recall (t=-2.8, p=.005, Cohen’s d=3.1) sensitive to proactive semantic interference and the second cued recall (t=-3.3, p=.001, Cohen’s d=2.6) sensitive to failure to recover from proactive semantic interference. In addition, individuals with HD also recalled significantly fewer (∼2.2) words on delayed cued recall of the first list, a measure of retroactive semantic interference, than HA (t=-4.8, p<.001, Cohen’s d=2.4). Lastly, individuals with HD recalled fewer (∼4.1) words than HA on delayed free recall of both word lists (t=-3.5, p<.001, Cohen’s d=5.9). The groups did not differ significantly with regard to number of total intrusions per trial.

Overall, our study supports the usefulness of the LASSI-L for neuropsychological assessment of HD in clinical and research settings. In comparison to a demographically similar group of HA, individuals with manifest HD showed significant differences in frontally mediated retrieval processes as well as semantic interference processes that affect efficient encoding of novel information.

Psychosocial factors show a significant relationship between child behavior problems, family functioning, and cognitive performance in children with Sickle Cell Disease, marking those as important targets for intervention among this population. The purpose of this research is to address the effects of psychosocial factors impact on specific cognitive domains.

Archival data from the National Institutes of Health’s Cooperative Study of Sickle Cell Disease was used. Data was restricted to individuals aged 14 or younger (N= 2,408), with 47.8% (n = 1,152) identified as female and 52.2% (n = 1,256) as male. Black or African American (96.9%, n = 2,334) children made up the majority of the sample, with the remainder coded as “other” (2.8%, n = 68). The measures utilized included the Wechsler Intelligence Scale for Children-Revised (WISC-R), Wechsler Intelligence Scale for Children-Third Edition (WISC-III), Peabody Picture Vocabulary Test (PPVT), Achenbach Child Behavior Checklist, and Family Environment Scale (FES).

Bivariate correlations were completed with significant correlations found between FES and performance on the WISC-R/III and PPVT. Supportiveness subscale on the FES demonstrated several statistically significant correlations with WAIS FSIQ (r = .21, p = .000) as well as the Information (r = .22, p = .000), Similarities (r = .17, p = .001), Arithmetic (r = .13, p = .021), Block Design (r = .11, p = .036), Vocabulary (r = .22, p = .000), Object Assembly (r = .12, p = .033), Comprehension (r = .19, p = .000), and Digit Span (r = .13, p = .014) subscales. A statistically significant correlation was observed between the PPVT and the Supportiveness subscale (r = .34, p = .000).

Various areas of cognitive functioning are affected by family dynamics. Improvement in family functioning would benefit the cognitive functioning of children with SCD. To increase aspects of family functioning including supportiveness, early identification of children with SCD, targeted interventions, and family and/or individual therapy for caregivers are suggested.

To examine neurocognitive correlates of oculomotor performance among U.S. military personnel with history of mild traumatic brain injury (mTBI).

A series of studies (total n=356) were conducted to examine saccadic eye movements and manual button presses collected in response to attention stimuli, and to compare these findings to the results of standardized neuropsychological tests. Study 1 included n=27 with remote mTBI and n=54 controls who completed the Bethesda Eye and Attention Measure (BEAM), an eye tracking task that was designed to measure visual attention and executive function. In Study 2, n=51 with chronic mTBI and n=33 controls completed the Fusion n-Back task, an eye tracking task that was designed to assess the impact of working memory load on visual attention performance. Study 3 examined psychometric characteristics of BEAM among n=191 military personnel with remote mTBI. In all studies, participants completed eye tracking tasks, a structured TBI diagnostic interview, and a brief battery of standardized neuropsychological tests.

In Study 1, BEAM saccadic and manual metrics demonstrated strong reliability and high sensitivity to multiple cognitive cues designed to elicit spatial orienting, temporal alerting, executive interference, perceptual release (gap) and inhibition (n2p=.76, p<.001). However, corresponding saccadic and manual measurements were weakly related to each other, and only manual (not saccadic) measurements were related to estimated verbal intelligence or years of education. Standardized neuropsychological measures did not differ between groups, but mTBI participants were more likely to be impaired on saccadic metrics than controls.

In Study 2, Standardized cognitive measures and estimated premorbid intelligence were positively associated with all manual metrics from the Fusion n-Back test, but were not associated with mTBI history or with saccadic metrics. Fusion n-Back saccadic and manual metrics had strong reliability and complementary sensitivity to chronic mTBI, with combined predictive power of PPV=.78, NPV=.72, r2=.44 for classification of remote mild TBI vs. controls on the more cognitively-challenging 1-back task condition.

In Study 3, BEAM metrics including manual RT latency and consistency, saccadic RT consistency, and saccadic inhibition errors showed consistent correlations with standardized measures of visual attention, processing speed, task switching, working memory, and executive functions. Hierarchical regressions showed that BEAM saccadic and manual metrics were independently predictive of cognitive test performance, above and beyond effects of demographic factors and clinical characteristics.

Results demonstrated some surprising findings related to neurocognitive influences on oculomotor performance. While both saccadic and manual performance were strongly and similarly influenced by attention cues, these two modalities were only weakly correlated to one another. Additionally, manual metrics were more strongly and consistently related to standardized cognitive test performance and premorbid intelligence than saccadic metrics. However, saccadic metrics demonstrated superior sensitivity to remote/chronic mTBI relative to manual metrics and standardized neuropsychological measures. Overall, these results suggest that saccadic eye tracking measures may provide unique value in assessment of mTBI and neurocognitive functions that is complementary with more common forms of assessment relying upon somatomotor response modalities.