Publications by authors named "Mahone E"

The accuracy of ankle-brachial index (ABI) and toe-brachial index (TBI) in discriminating lower extremity peripheral artery disease (PAD) has not been evaluated in patients with chronic kidney disease (CKD). We measured ABI, TBI, and Doppler ultrasound in 100 predialysis patients with CKD without revascularization or amputation. Leg-specific ABI was calculated using higher systolic blood pressure (SBP) in posterior tibial or dorsalis pedis artery divided by higher brachial SBP; alternative ABI was calculated using lower SBP in posterior tibial or dorsalis pedis artery.

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Article Synopsis
  • * In a study comparing 20 children with primary complex motor stereotypies to 20 healthy controls, significant differences were found in cerebellar white and gray matter volumes, correlating with motor control and severity of stereotypy behaviors.
  • * Similarly, in deer mice, increased volumes in specific cerebellar areas and higher cell counts in active animals suggest a connection between cerebellar structure and activity levels, reinforcing the idea that further research on the cerebellum's involvement in repetitive behaviors is warranted.
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Motor stereotypies are rhythmic, repetitive, prolonged, predictable, and purposeless movements that stop with distraction. Although once believed to occur only in children with neurodevelopmental disorders such as autism, the presence and persistence of complex motor stereotypies (CMS) in otherwise typically developing children (primary CMS) has been well-established. Little, however, is known about the underlying pathophysiology of these unwanted actions.

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Parent-reported satisfaction is an important outcome measure in pediatric neuropsychology; however, self-report of patient experience following lengthy pediatric assessments has been under-investigated. Written at a first grade reading level and utilizing touch screen and read-aloud functionality, a set of 15 operationally-focused items were administered to evaluate pediatric patient experience of neuropsychological and psychological assessment. One-hundred ninety-seven clinically-referred patients (M age = 11.

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Objectives: The presence of excessive mirror overflow in children with Attention Deficit/Hyperactivity Disorder (ADHD) is discussed in numerous published reports. These reports, however, include a limited age range in their samples. The objective of this study is to examine the effects of diagnosis and sex on mirror overflow and standard deviation (SD) of tap time in children with and without ADHD across a larger age range (5-12 years) of children.

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Background: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome.

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Background And Objectives: Endothelial dysfunction is common among patients with CKD. We tested the efficacy and safety of combination treatment with sodium nitrite and isoquercetin on biomarkers of endothelial dysfunction in patients with CKD.

Design, Setting, Participants, & Measurements: This randomized, double-blind, placebo-controlled phase 2 pilot trial enrolled 70 patients with predialysis CKD.

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Fragile X syndrome (FXS) is caused by silencing of the gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying silencing, CGG repeat expansion, is well characterized; however, delineation of the pathway from DNA to RNA to protein using biosamples from well characterized patients with FXS is limited. Since FXS is a common and prototypical genetic disorder associated with intellectual disability (ID) and autism spectrum disorder (ASD), a comprehensive assessment of the DNA-RNA-protein pathway and its correlations with the neurobehavioral phenotype is a priority.

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Recent events such as the global pandemic of COVID-19 have challenged neuropsychologists to scale up their capacity to conduct portions of their assessment remotely. While more complex patients will likely continue to require on-site, office-based interaction and assessment, the current emergency-based expansion of online and telehealth evaluation practices may ultimately lay the groundwork for more routine, online assessment of patients with less complex presentations in the future. To this end, the current study evaluated a pre-appointment, online methodology for differentiating referred pediatric patients based upon the scope and severity of their caregiver-reported adaptive, academic, attentional, behavioral, and emotional impairment.

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Objective: The correct "dosing" of neuropsychological assessment is of interest for the purposes of cost management and the personalization of medicine/assessment. In this context, embedded IQ screening, rather than routine comprehensive IQ testing, may be useful in identifying youth at risk for Intellectual Disability (ID) for whom further assessment is needed. This retrospective, cross-sectional study examined subtests from the Wechsler Intelligence Scale for Children-Fifth Edition (WISC-5) needed to identify youth with Full Scale IQ (FSIQ) ≤75.

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Objective: Executive function (EF) difficulties are commonly found in youth with intellectual disability (ID). Given mixed results from studies using performance-based EF measures, the EF profile has not been well characterized for this population. No published work has examined the clinical utility of the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF2) in distinguishing EF in ID.

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Attention-deficit hyperactive disorder (ADHD) is characterized by inattention and increased impulsive and hypermotoric behaviors.Despite the high prevalence and impact of ADHD, little is known about the underlying neurophysiology of ADHD. The main inhibitory and excitatory neurotransmitters γ-aminobutyric acid (GABA) and glutamate are receiving increased attention in ADHD and can be measured using Magnetic Resonance Spectroscopy (MRS).

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Background: Although behavioral therapy is an effective approach to reduce tics in children and adults, there is an insufficient availability and accessibility of behavioral therapy in the community.

Objective: The goal of the study was to test the clinical efficacy of home-based, parent-provided behavioral therapy in children with Tourette syndrome aged seven to 13 years.

Method: An instructional habit reversal training-based video and guide was developed for use by parents.

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Article Synopsis
  • Descriptive labels for performance test scores in neuropsychological evaluations are inconsistent and lack a universal system, leading to confusion among various stakeholders.
  • Experts convened at a 2018 conference aimed to create standardized qualitative labels for test results and a clear definition of "impairment."
  • The conference resulted in recommendations for uniform application of labels and definitions, with the goal of improving clarity and consistency in neuropsychological reporting.
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Background: Research on neurodevelopmental outcome in survivors of pediatric brain tumor (BT) is often based on the assumption of normal development up to the onset of overt symptoms. We sought to verify the "normalcy assumption" and to investigate corollary issues including challenges inherent to the measurement of premorbid neurobehavioral functioning.

Procedure: The Brain Radiation Investigative Study Consortium (BRISC) is a prospective longitudinal multisite study of 58 children diagnosed with BT.

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During the publication process, an author "M. Pinkett-Davis", who helped conceptualize and revise this study was accidentally excluded from the authorship list. The revised author group is now: Kalb, L.

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Children with traumatic brain injury (TBI) are reported to have persistent deficits in executive functioning and subtle motor functions This study examined the relationship between subtle motor signs and executive functioning in children with TBI Eighteen children aged 13-18 years with mild to severe TBI at least one year before study participation and 16 age-matched typically-developing controls were examined using the Revised Physical and Neurological Examination of Subtle Signs (PANESS), a simplified Go/No-go task, portions of the Delis-Kaplan Executive Function System Verbal Fluency and Trail Making tests, and a Wechsler Coding test There were significant associations between PANESS scores and executive functioning measures in children with TBI but not in controls. Conclusion: Results suggest that assessment of subtle motor signs may provide broader information regarding functioning after pediatric TBI.

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The goal of this study was to examine caregiver agreement to hear about local research opportunities by joining a clinical research registry. Data from this cross-sectional study were gathered, between 2014 and 2017, across two outpatient clinics: (1) a multidisciplinary Autism Spectrum Disorder (ASD) clinic (N = 5228) and (2) a general psychology clinic serving youth with, or at risk for, a neurodevelopmental disorder (NDD; N = 5040). Overall, more than 8 in 10 caregivers agreed to join the registry.

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Children treated for brain tumor show evidence of declines in general intellectual abilities (i.e., IQ).

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Caregiver rating scales represent an important component of comprehensive child neuropsychological assessments for conditions such as Attention-deficit/Hyperactivity Disorder (ADHD); however, low inter-rater reliability (parent vs. teacher) often complicates interpretation. It has been challenging to identify the factors contributing to inter-rater variability, particularly when parents and teachers complete slightly different versions of the same rating scale.

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Background: Rapid automatised naming (RAN) and rapid alternating stimulus (RAS) are reliable predictors of reading disability. The underlying biology of reading disability is poorly understood. However, the high correlation among RAN, RAS and reading could be attributable to shared genetic factors that contribute to common biological mechanisms.

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The BRIEF2 is the recent revision of a frequently employed measure of executive behaviors; however, no research has yet addressed the validity of the new measure's theoretical design. The present study examined the factor structure of the BRIEF2 in 5212 clinically referred youth (66% male, 5-18 years) via exploratory (EFA) and confirmatory (CFA) factor analyses of item-level responses. Results from the EFA suggested the BRIEF2 has fewer factors than would be suggested by the nine theoretically derived scales.

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Background: Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, and most have intellectual disability. Recent studies on a mouse model of KS suggest disruption of normal adult neurogenesis in the granule cell layer of the dentate gyrus of the hippocampus.

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The causes that individuals attribute to reading outcomes shape future behaviors, including engagement or persistence with learning tasks. Although previous reading motivation research has examined differences between typical and struggling readers, there may be unique dynamics related to varying levels of reading and attention skills. Using latent profile analysis, we found 4 groups informed by internal attributions to ability and effort.

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Objective: The aim of the study was to characterize subtle motor signs in children with moderate-severe traumatic brain injury in the chronic phase of injury.

Design: Fourteen children with moderate (n = 6) or severe (n = 8) traumatic brain injury, ages 11-18 yrs, who had sustained their injury at least 1-yr before study participation (range 1-14 yrs since injury), and 14 matched typically developing controls were examined using the Physical and Neurological Examination of Subtle Signs (PANESS). To examine the neural correlates of subtle motor signs, measures of total cerebral volume and motor/premotor volume were derived from magnetic resonance imaging.

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