Neuropsychological Functioning In Children Research Articles

86 Memory Performance in Children with Duchenne and Becker Muscular Dystrophy

Objective:There is limited and mixed research describing the memory performance of boys with Duchenne muscular dystrophy (DMD), a progressive disorder that affects the muscle and the brain, presumably due to the absence of dystrophin; however, the literature indicates either the existence of a selective deficit in verbal working memory, or more generalized impairment in both verbal and visual memory. Far less is documented about the neurocognitive profile of boys with Becker muscular dystrophy (BMD), a closely related neuromuscular disorder which allows for at least some functional dystrophin protein to circulate. The Child and Adolescent Memory Profile (ChAMP) is a valid and widely used memory battery that has not been studied in either DMD or BMD. This study aimed to assess the verbal and visual memory performance in boys having either a DMD or a BMD diagnosis using the ChAMP. A working memory measure, the Digit Span subtest from the Wechsler Intelligence Scale for Children-Fifth Edition, was also included for comparison.Participants and Methods:Twenty-one patients (Age M = 12.19 ± 3.60; 100% male; 76% DMD, 24% Becker) were selected from retrospective data collection of neuropsychological performance in children with neuromuscular disorders. Patients were recruited and assessed as part of a larger scale IRB-approved research study designed to better understand the neurocognitive and behavioral trajectories of boys with DMD or BMD with a complete neuropsychological battery.Results:Independent samples f-tests revealed no significant differences between groups across verbal (DMD M = 88.71; BMD M = 100.80; p = .08), visual (DMD M =90.36; BMD M 93.60; p = .33), and working memory (DMD M = 84.69; BMD: M 82.60; p = .40) domains. In additional analyses, a one sample f-test comparing verbal and visual memory within DMD children revealed significantly worse verbal than visual memory scores (verbal memory M = 88.71; visual memory M = 90.36; p = <.001).Conclusions:There were no significant differences between groups in verbal, visual, and working memory performance, though sample size was a significant limitation. However, based on a comparison of means, children with BMD appear to have stronger verbal memory skills than children with DMD. Furthermore, significant differences between verbal and visual memory within DMD children were observed, such that verbal memory skills were weaker. These findings add to the absence of literature on verbal and visual memory outcomes in children with DMD and BMD.

Child Neuropsychological Functioning and Interpersonal Callousness as Predictors of Externalising Behaviour in Early Adolescence: A Prospective Population-based Study

Externalizing problems are a key predictor of individual functioning in adulthood. Therefore, identifying possible risk factors for externalising problems is valuable for optimising prevention and treatment programmes. Previous research has shown that (domains of) neuropsychological functioning predict externalising problems later in life. However, the influence of callous traits, and sex as potential moderators in this relation remains unclear. The aim of this study was to examine associations between neuropsychological functioning in children (at age 8 years) and later externalising behaviour in adolescence (at age 14 years), as well as to test the role of callous traits (at age 10 years) and sex as moderating factors. The analyses were conducted using data from 661 Dutch children from the population-based Generation R Study (47.2% female). We found no association between neuropsychological functioning and later externalising behaviour. However, callous traits predicted externalising problems at age 14 years. Further, callous traits moderated the association between neuropsychological functioning and externalising behaviour, though this association dropped below the statistical significance level when adjusted for confounders. Specifically, while higher neuropsychological functioning was associated with more externalising behaviour in children with high callous traits, lower neuropsychological functioning was not associated with externalising behaviour in children with low callous traits. Although boys showed significantly higher externalising behaviours compared to girls, no moderating effect of sex was found on the association between neuropsychological functioning and externalising behaviour. These results add to a growing body of evidence supporting a distinct neurocognitive profile in children with high vs low callousness.

Challenges and Neuropsychological Functioning in Children and Adolescents with Borderline Intellectual Functioning.

This retrospective chart review study sought to explore neuropsychological profiles, neuropsychiatric and psychiatric comorbidity, changes in diagnoses, support at daycare and school, medication use, psychiatric referrals, and progression into further education in a cohort of participants with borderline intellectual functioning (BIF). Additionally, developmental factors connected to BIF were studied. Delays in language and gross motor development were the initial reasons for the parents to seek health care. Comorbid neuropsychiatric and psychiatric diagnoses were frequent, a total of 41% of participants were referred to psychiatric services, and 45% used medication. Educational support was needed by 92% of the study participants. The majority of those graduating elementary school continued their studies at ordinary or special vocational schools. The risk of dropping out during secondary studies appeared to increase. The results in most of the neuropsychological subdomains declined over time, and 23% of the participants were later diagnosed with an intellectual disability (ID). The early developmental signs pointing towards BIF and the need for prompt support were a delay in language and motor development, difficulties in executive function, a delay in learning the activities of daily living among children under school age, and difficulties in reading and arithmetic skills and abstract reasoning at school age. It is important to follow up and support individuals with BIF as their risk for being left behind in the society is increased. Also, it would be important to repeat the neuropsychological testing of cognitive and adaptive functions before graduating elementary school as to capture those who meet the ID criteria.

Neuropsychological functioning in children and adolescents with anti-NMDA receptor encephalitis (anti-NMDARE).

The objective of this study was to describe neuropsychological functioning and associated medical features in pediatric patients with anti-NMDA receptor encephalitis (anti-NMDARE). Retrospective data were collected from electronic medical records and neuropsychological reports of 15 children and adolescents with cerebral spinal fluid antibody-confirmed anti-NMDARE who were 7-21years old at the time of the neuropsychological evaluation. The median time between treatment initiation for anti-NMDARE and neuropsychological testing was 228days (IQR 431, range 41-927). Consistent with the limited literature, this pediatric sample with anti-NMDARE generally had average IQs, but had scores falling in the low average range on tests of verbal and visual memory as well as aspects of executive functioning (set shifting and phonemic verbal fluency). Other relative weaknesses were observed in visuo-constructional ability and reading comprehension. Future prospective studies are needed to replicate these data and explore disease and treatment variables that reduce or exacerbate the risk for neuropsychological sequelae, while longitudinal analyses are required to better characterize academic, vocational, and social outcomes.

Visual Function and Neuropsychological Profile in Children with Cerebral Visual Impairment.

Cerebral Visual Impairment (CVI) has become the leading cause of children’s visual impairment in developed countries. Since CVI may negatively affect neuropsychomotor development, an early diagnosis and characterization become fundamental to define effective habilitation approaches. To date, there is a lack of standardized diagnostic methods to assess CVI in children, and the role of visual functions in children’s neuropsychological profiles has been poorly investigated. In the present paper, we aim to describe the clinical and neuropsychological profiles and to investigate the possible effects of visual functions on neuropsychological performance of a cohort of children diagnosed with CVI. Fifty-one children with CVI were included in our retrospective analysis (inclusion criteria: verbal IQ > 70 in Wechsler scales; absence of significant ocular involvement). For each participant, we collected data on neuropsychological assessment (i.e., cognitive, cognitive visual, and learning abilities), basic visual functions (e.g., Best Corrected Visual Acuity—BCVA, contrast sensitivity, and ocular motor abilities) and global development features (e.g., neurological signs and motor development delay) based on standardized tests, according to patients’ ages. The results showed that oculomotor dysfunction involving saccades and smooth pursuit may be a core symptom of CVI and might have a significant impact on cognitive visual and other neuropsychological abilities. Furthermore, visual acuity and contrast sensitivity may influence cognitive, cognitive visual, and academic performances. Our findings suggest the importance of a comprehensive assessment of both visual and neuropsychological functions in children when CVI is suspected, which is needed to provide a more comprehensive functional profile and define the best habilitation strategy to sustain functional vision.

QOL-13. Impact of hearing loss on neuropsychological functioning in children treated for medulloblastoma: A report from the Children’s Oncology Group (COG)

BACKGROUND/OBJECTIVE: We prospectively examined neuropsychological outcomes and ototoxicity in children with average-risk medulloblastoma. METHODS: Eligible patients included those treated on COG protocol ACNS0331 who completed audiograms at end of therapy or one-year off-therapy, and neuropsychological assessments between 2- and 5-years post-diagnosis. Conventional pure-tone audiometric evaluations (0.25-8kHz) were assigned an ototoxicity grade based on the International Society of Pediatric Oncology (SIOP) grading scale. Grade for the better hearing ear was used for analyses. Participants were divided into two groups: SIOP grade≥3 hearing loss (HL) versus SIOP grade<3. Cutoff score of 60 on BASC-2 was used to dichotomize parent-reported anxiety and depression scores as ‘low’ or ‘high’. RESULTS: Data were available for 113 children (66% male; 86% white), aged 3.0-18.5 at diagnosis (Mean=9.1). One-quarter (24.8%, n=28) had at least moderate HL (≥ SIOP grade 2), and 12.3% (n=14) had severe HL (≥ SIOP grade 3). After controlling for radiation exposure and age, children with severe HL showed significantly higher levels of anxiety (OR=5.9, 95%CI 1.3-26.0, p=0.0195) and borderline differences in depression (OR=4.0, 95%CI 1.0-16.5, p=0.0563), but no differences in cognitive functioning when compared to other participants. When moderate and severe HL were combined in exploratory analyses, significantly greater anxiety (OR=9.0, 95%CI 2.1-37.4, p=.0027) and depression (OR=4.6, 95%CI 1.3-15.7, p=.0165) were observed. CONCLUSIONS: Survivors of pediatric medulloblastoma with moderate to severe HL evidenced greater psychosocial, but not neurocognitive, difficulties compared to those with no or mild HL. It may be that modern treatment protocols generally preserve cognitive functioning such that associations between HL and cognitive impairment are no longer significant. It is also possible that neurocognitive risk associated with HL may not manifest until survivors are further from diagnosis. In contrast, survivors with HL may be at greater risk for negative psychosocial adjustment, suggesting that increased monitoring of mental health outcomes is warranted.

Maternal exposure to air pollution during pregnancy and child's cognitive, language, and motor function: ECLIPSES study

Prenatal exposure to air pollution, even at low levels, has been associated with negative effects on a child's neuropsychological functioning. The present work aimed to investigate the associations between prenatal exposure to air pollution on a child's cognitive, language, and motor function at 40 days of age in a highly exposed area of Spain. From the ECLIPSES study population, the present work counted 473 mother-child pairs. Traffic-related air pollution levels at home addresses during the whole pregnancy were estimated including particulate matter (PM) with an aerodynamic diameter <2.5 μm (PM2.5), <10 μm (PM10) and 2.5–10 μm (PMcoarse), PM2.5absorbance, nitrogen dioxide (NO2), other nitrogen oxides (NOx), and ozone (O3) using land-use regression models developed within ESCAPE and ELAPSE projects. Children's cognitive, language, and motor functions were assessed using the Bayley Scales of Infant Development 3rd edition (BSID-III) at around 40 days of age. Linear regression models were adjusted for maternal biological, sociodemographic and lifestyle characteristics, area deprivation index, and amount of greenness around the home's address. All air pollutants assessed, except PM2.5 absorbance, were associated with lower motor function in children, while no association was observed between prenatal exposure to air pollution and cognitive and language functions. This finding highlights the need to continue raising awareness of the population-level impact that maternal exposure to air pollution even at low levels can have on the neuropsychological functions of children.

Brain-derived neurotrophic factor Val66Met and neuropsychological functioning after early childhood traumatic brain injury.

The present study examined the differential effect of the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism on neuropsychological functioning in children with traumatic brain injury (TBI) relative to orthopedic injury (OI). Participants were drawn from a prospective, longitudinal study of children who sustained a TBI (n = 69) or OI (n = 72) between 3 and 7 years of age. Children completed a battery of neuropsychological measures targeting attention, memory, and executive functions at four timepoints spanning the immediate post-acute period to 18 months post-injury. Children also completed a comparable age-appropriate battery of measures approximately 7 years post-injury. Parents rated children's dysexecutive behaviors at all timepoints. Longitudinal mixed models revealed a significant allele status × injury group interaction with a medium effect size for verbal fluency. Cross-sectional models at 7 years post-injury revealed non-significant but medium effect sizes for the allele status x injury group interaction for fluid reasoning and immediate and delayed verbal memory. Post hoc stratified analyses revealed a consistent pattern of poorer neuropsychological functioning in Met carriers relative to Val/Val homozygotes in the TBI group, with small effect sizes; the opposite trend or no appreciable effect was observed in the OI group. The results suggest a differential effect of the BDNF Val66Met polymorphism on verbal fluency, and possibly fluid reasoning and immediate and delayed verbal memory, in children with early TBI relative to OI. The Met allele-associated with reduced activity-dependent secretion of BDNF-may confer risk for poorer neuropsychological functioning in children with TBI.

Connectomic Profiles and Cognitive Trajectories After Epilepsy Surgery in Children.

Neurocognitive outcomes after surgery for temporal lobe epilepsy in childhood are variable. Postoperative changes are not directly predicted by seizure freedom, and associations between epilepsy, neuropsychological function, and developing neural networks are poorly understood. Here, we leveraged whole-brain connectomic profiling in magnetoencephalography (MEG) to retrospectively study associations between brain connectivity and neuropsychological function in children with temporal lobe epilepsy undergoing resective surgery. Clinical and MEG data were retrospectively analyzed for children who underwent temporal lobe epilepsy surgery at the Hospital for Sick Children from 2000 to 2021. Resting-state connectomes were constructed from neuromagnetic oscillations via the weighted-phase lag index. Using a partial least-squares (PLS) approach, we assessed multidimensional associations between patient connectomes, neuropsychological scores, and clinical covariates. Bootstrap resampling statistics were performed to assess statistical significance. A total of 133 medical records were reviewed, and 5 PLS analyses were performed. Each PLS analysis probed a particular neuropsychological domain and the associations between its baseline and postoperative scores and the connectomic data. In each PLS analysis, a significant latent variable was identified, representing a specific percentage of the variance in the data and relating neural networks to clinical covariates, which included changes in rote verbal memory (n = 41, p = 0.01, σ2 = 0.38), narrative/verbal memory (n = 57, p = 0.00, σ2 = 0.52), visual memory (n = 51, p = 0.00, σ2 = 0.43), working memory (n = 44, p = 0.00, σ2 = 0.52), and overall intellectual function (n = 59, p = 0.00, σ2 = 0.55). Children with more diffuse, bilateral intrinsic connectivity across several frequency bands showed lower scores on all neuropsychological assessments but demonstrated a greater propensity for gains after resective surgery. Here, we report that connectomes characterized by diffuse connectivity, reminiscent of developmentally immature networks, are associated with lower preoperative cognition and postoperative cognitive improvement. These findings provide a potential means to understand neurocognitive function in children with temporal lobe epilepsy and expected changes postoperatively.

Neuropsychological Profile in Pediatric Migraine without Aura: A Pilot Study.

Despite the high prevalence of headache in developmental age, current reports about its neuropsychological effects are still lacking. The aim of the present pilot study is to assess the neuropsychological skills among children affected by migraine without aura (MwoA). Fifteen children (7M/8F) (mean age 10.73 ± 2.13) with MwoA, consecutively referred to the Center for Childhood Headache at Università degli Studi della Campania “Luigi Vanvitelli”, underwent the Italian version of the NEPSY-2 after cognitive evaluation. Moreover, to assess the pain level and disability grade during daily activity, the VAS and PedMIDAS scales were used. MwoA children were comparable with the control group of 38 children with respect to age, gender, language, and education level. Written informed consent was obtained from all parents and from children directly, when appropriate. MwoA children differed from controls significantly among the NEPSY-2 subscales, with a relevant relationship between the frequency and intensity of the attacks. In conclusion, the results of the present pilot study may suggest that MwoA could impact significantly neuropsychological functioning in children.

Addressing the Interactive Effects of Maltreatment and COVID-19 Related Stressors on the Neuropsychological Functioning in Children.

OPINION article Front. Psychol., 24 November 2021Sec. Neuropsychology Volume 12 - 2021 | https://doi.org/10.3389/fpsyg.2021.764768

A-5 Brain-Derived Neurotrophic Factor Val66Met and Neuropsychological Functioning Following Early Childhood Traumatic Brain Injury

Abstract Objective The present study examined the differential effect of the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism on neuropsychological functioning in children with traumatic brain injury (TBI) relative to children with orthopedic injury (OI). Method Participants were drawn from a prospective, longitudinal study of children who sustained a TBI (n = 69) or OI (n = 72) between 3 and 7 years of age. Children completed a battery of neuropsychological measures targeting attention, memory, and executive functions at four time points spanning the immediate post-acute period to 18 months post-injury. Children also completed a comparable age-appropriate battery of measures approximately 7 years post-injury. Parents rated children’s executive functioning at all time points. Results Longitudinal mixed models revealed a significant allele status x injury group interaction for verbal fluency (p = 0.007) and a non-significant trend for parent-rated dysexecutive behaviors (p = 0.069), and cross-sectional models at 7 years post-injury revealed a non-significant trend for the allele status x injury group interaction for fluid reasoning skills (p = 0.074). Post hoc analyses suggested a consistent pattern of poorer neuropsychological functioning in Met carriers relative to Val/Val homozygotes in the TBI group; in contrast, the opposite trend was observed in the OI group. Conclusions The results suggest a differential effect of the BDNF Val66Met polymorphism on verbal fluency, dysexecutive behaviors, and fluid reasoning skills in children with early TBI relative to OI, and that the Met allele—associated with reduced activity-dependent secretion of BDNF—confers risk for poorer neuropsychological functioning in children with TBI.

The Association between Sleep Problems and Neuropsychological Deficits in Medication-naïve Children with ADHD

ABSTRACT Background: Children with ADHD are reported to have sleep problems and neuropsychological deficits, but studies examining a potential association between the two are scarce and the use of varying methodology can complicate conclusions. Participants: A clinical sample of 59 medication-naïve children with ADHD between the ages of 6 and 14 years (71% male). Methods: Children underwent polysomnography and multiple sleep latency test, and parent rated sleep habits on the Children’s Sleep Habits Questionnaire. Children also completed an extensive neuropsychological battery of executive function and delay aversion tasks, and parents and teachers rated executive function behavior on the Behavior Rating Inventory of Executive Function. Linear regression analyses were conducted with each of the neuropsychological outcomes included as the outcome variable and the sleep parameters as the predictor variables. Results: The correlations between sleep and neuropsychological outcomes were generally modest, but some sleep parameters (primarily sleep stages and sleep latencies) were associated with objectively and subjectively measured executive function and delay aversion. Conclusions: Using objective and subjective gold standard assessment procedures this study supports a (modest) association between sleep and neuropsychological function in children with ADHD.

Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.

IntroductionCognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease both at genetics and neuroimaging point of view. The current study aims to: 1) analyze the neuropsychological profile of a group of DMD and BMD boys without cognitive impairment with an assessment of their executive functions; 2) explore the structural connectivity in DMD, BMD, and age-matched controls focusing on cortico-subcortical tracts that connect frontal cortex, basal ganglia, and cerebellum via the thalamus; 3) explore possible correlations between altered structural connectivity and clinical neuropsychological measures.Materials and methodsThis pilot study included 15 boys (5 DMD subjects, 5 BMD subjects, and 5 age-matched typically developing, TD). They were assessed using a neuropsychological assessment protocol including cognitive and executive functioning assessment and performed a 1.5T MRI brain exam including advance Diffusion Weighted Imaging (DWI) method for tractography. Structural connectivity measurements were extracted along three specific tracts: Cortico-Ponto-Cerebellar Tract (CPCT), Cerebellar-Thalamic Tract (CTT), and Superior Longitudinal Fasciculus (SLF). Cortical-Spinal Tract (CST) was selected for reference, as control tract.ResultsRegarding intellectual functioning, a major impairment in executive functions compared to the general intellectual functioning was observed both for DMD (mean score = 86.20; SD = 11.54) and for BMD children (mean score = 88; SD = 3.67). Mean FA resulted tendentially always lower in DMD compared to both BMD and TD groups for all the examined tracts. The differences in FA were statistically significant for the right CTT (DMD vs BMD, p = 0.002, and DMD vs TD, p = 0.0015) and the right CPCT (DMD vs TD, p = 0.008). Concerning DMD, significant correlations emerged between FA-R-CTT and intellectual quotients (FIQ, p = 0.044; ρs = 0.821), and executive functions (Denomination Total, p = 0.044, ρs = 0.821; Inhibition Total, p = 0.019, ρs = 0.900). BMD showed a significant correlation between FA-R-CPCT and working memory index (p = 0.007; ρs = 0.949).Discussion and conclusionIn this pilot study, despite the limitation of sample size, the findings support the hypothesis of the involvement of a cerebellar-thalamo-cortical loop for the neuropsychological profile of DMD, as the CTT and the CPCT are involved in the network and the related brain structures are known to be implied in executive functions. Our results suggest that altered WM connectivity and reduced fibre organization in cerebellar tracts, probably due to the lack of dystrophin in the brain, may render less efficient some neuropsychological functions in children affected by dystrophinopathies. The wider multicentric study could help to better establish the role of cerebellar connectivity in neuropsychological profile for dystrophinopathies, identifying possible novel diagnostic and prognostic biomarkers.

Executive Functions and Attention in Childhood Epilepsies: A Neuropsychological Hallmark of Dysfunction?

Patients with epilepsy are at risk for several lifetime problems, in which neuropsychological impairments may represent an impacting factor. We evaluated the neuropsychological functions in children suffering from three main epilepsy categories. Further, we analyzed the longitudinal evolution of the neuropsychological profile over time. Patients undergoing neuropsychological evaluation at our Department from 2012 to 2018 were identified retrospectively. We selected patients aged 6-16 years and with at least two evaluations. Three epilepsy categories were considered: focal/structural, focal self-limited, and idiopathic generalized. Each evaluation included the same structured assessment of main neuropsychological domains. The effect of the epilepsy category, illness duration, seizure status, and medication was computed in multilevel models. We identified 103 patients (focal self-limited = 27; focal/structural = 51; and idiopathic generalized = 25), for 233 evaluations. The majority of deficits were reported in attention and executive functions (>30% of patients); the results were dichotomized to obtain global indexes. Multilevel models showed a trend toward statistical significance of category of epilepsy on the global executive index and of illness duration on global attention index. Illness duration predicted the scores of executive and attention tasks, while category and medication predicted executive task performance. Focal/structural epilepsies mostly affected the executive domain, with deficits persisting over time. By contrast, an ameliorative effect of illness duration for attention was documented in all epilepsies. This study offers lacking information about the evolution of deficits in time, the role of epilepsy category, and possible psychological implications for high-order cognitive skills, central in several social and academic problems.

Neuropsychological functioning in children with and without specific learning disorder.

To investigate neuropsychological functioning in children with and without Specific Learning Disorder. The comparative cross-sectional study was conducted in schools affiliated with Punjab Education Foundation, Gujrat, Pakistan, from January -to June 2019, and comprised children diagnosed with Specific Learning Disorder and age-matched and class matched high achievers as controls. Bender Gestalt Test II with copy test, recall test, perceptual test and motor test subscales was administered on both the groups for the assessment of neuropsychological functioning. Data was analysed using SPSS 21. Of 116 subjects, 64(55.2%) were cases and 52(44.8%) controls. Overall, there were 64(55.2%) girls and 52(44.8%) boys with a mean age of 10.41±1.14. There was significant difference on recall test (p<0.01) between the groups which had 100% predictive power. Memory function was significantly impaired in children with Specific Learning Disorder.

Inattention Symptoms are Predictors of Neuropsychological Functioning in Children from 3rd and 4th Grades

ABSTRACT Symptoms of inattention and hyperactivity/impulsivity, arranged along a continuum, are commonly associated with neuropsychological and academic deficits, even in the general population. The aim of this study is to analyze how Attention Deficit Hyperactivity Disorder (ADHD) symptoms are associated with the performance in neuropsychological and academic abilities (phonological processing, processing speed/automatic attention, executive functions, reading, and spelling) in school-age children. The sample consisted of 216 children from 3rd and 4th grades (M = 8.94 years old, SD =.71) from public elementary schools of two Brazilian capitals. Pearson correlation and Multiple Linear Regression analysis were performed. Inattention symptoms were the only predictors of performance in phonological processing (phoneme suppression and rapid automatized naming of letters), processing speed/automatic attention, executive functions, such as inhibitory control and cognitive flexibility, and reading fluency. Beta values ranged from .14 to .27, and the largest value was related to an inhibitory control task. Inattention, and not hyperactivity/impulsivity symptoms, seems to affect neuropsychological functions even in non-clinical diagnosed children. Contributions and future directions are discussed.

Chapter 22 - The role of cerebellum in the child neuropsychological functioning

This chapter proposes a review of neuropsychologic and behavior findings in pediatric pathologies of the cerebellum, including cerebellar malformations, pediatric ataxias, cerebellar tumors, and other acquired cerebellar injuries during childhood. The chapter also contains reviews of the cerebellar mutism/posterior fossa syndrome, reported cognitive associations with the development of the cerebellum in typically developing children and subjects born preterm, and the role of the cerebellum in neurodevelopmental disorders such as autism spectrum disorders and developmental dyslexia. Cognitive findings in pediatric cerebellar disorders are considered in the context of known cerebellocerebral connections, internal cellular organization of the cerebellum, the idea of a universal cerebellar transform and computational internal models, and the role of the cerebellum in specific cognitive and motor functions, such as working memory, language, timing, or control of eye movements. The chapter closes with a discussion of the strengths and weaknesses of the cognitive affective syndrome as it has been described in children and some conclusions and perspectives.

Neuropsychological function in children with hemophilia: A review of the Hemophilia Growth and Development Study and introduction of the current eTHINK study.

Almost all of what is known about neurologic and cognitive development in hemophilia derives from the Hemophilia Growth and Development Study, conducted during an era when treatment regimens and comorbidities differed significantly from the current environment. Results suggested hemophilia and human immunodeficiency virus had independent effects, and hemophilia negatively impacts academic achievement, attention, and behavior. The introduction of prophylaxis treatment in hemophilia has created the need for re-evaluation of the effects of hemophilia on neurodevelopment and cognition. We outline the Evolving Treatment of Hemophilia's Impact on Neurodevelopment, Intelligence, and Other Cognitive Functions (NCT03660774) study, which aims to meet this need.

C-70 Neuropsychological Profiles of Patients With SCN8A-Related Epilepsy

Abstract Objective Two cases of SCN8A-related epilepsy (a sodium-channelopathy) are presented. SCN8A-related epilepsy with encephalopathy (SCN8A-REE), the most common form, is typically characterized by refractory seizures, developmental delays, and intellectual disability (ID) but recently discovered variants have shown broadly normal cognition. Current cases highlight the heterogeneity seen with differing de-novo pathogenic variants. Method Case 1, a 6-year-old right-handed girl, presented with SCN8A-REE and a missense pathogenic variant (c.802A&gt;C), not previously documented. History includes speech and motor delay, with focal motor seizures starting at 4-months. Early EEG showed bilateral centroparietal epileptiform discharges. Case 2, an 8-year-old right-handed girl, presented with SCN8A-related epilepsy with c.5630A&gt;G pathogenic variant with seizure onset at 5-months. Initial EEG showed right occipital spikes. Results Case 1 currently shows motor and language delays and prominent motor tics. Testing documented ID with fairly global neuropsychological deficits (i.e., academics, attention/executive functions, memory, visual-spatial skills, fine motor, language). In contrast, Case 2 shows low average intellect and average academics, but evaluation documented attention deficits, fine motor delays, and behavioral issues in addition to tics; she was diagnosed with Attention-Deficit/Hyperactivity Disorder, Oppositional Defiant Disorder, Obsessive Compulsive Disorder, and Tourette’s. Conclusion These cases expand limited knowledge regarding neuropsychological functioning of children with SCN8A-related epilepsy with unique de-novo pathogenic variants. While SCN8A-REE is clearly associated with ID, other pathogenic variants may show better preserved intellect, despite other neuropsychological and behavioral concerns.