Publications by authors named "William S Macallister"

45 Publications

Emotional functioning in pediatric epilepsy: Evidence of greater externalizing behavior with left hemisphere onset.

Epilepsy Behav 2021 04 25;117:107851. Epub 2021 Feb 25.

Neuropsychology Service, Alberta Children's Hospital, 28 Oki Drive, Calgary, AB T3B6A8, Canada; Department of Pediatrics, University of Calgary, 2500 University Drive, Calgary, AB T2N1N4, Canada; Alberta Children's Hospital Research Institute, 28 Oki Drive, Calgary, AB T3B6A8, Canada; Department of Clinical Neurosciences, University of Calgary, 2500 University Drive, Calgary, AB T2N1N4, Canada. Electronic address:

Though it is wellknown that psychiatric concerns are common in children with epilepsy, factors predicting such problems are not well understood. The present investigation studied rates of parent-reported psychological concerns in clinically referred children with epilepsy. Further, it investigated differences in psychological distress across epilepsy subtypes (i.e., focal, generalized, mixed), relationships with epilepsy severity variables, gender, and lateralization of seizure foci. The parents of 170 children and adolescents (ages 6-18 years, 78 girls, 92 boys) completed the Child Behavior Checklist (CBCL). Scale elevation frequencies (T-scores ≥ 65) were calculated and Chi square analyses examined rates of elevations between epilepsy groups. Internalizing problems (32.4%) were more common than externalizing problems (17.1%) for the sample, with attention problems being the most common concern across all epilepsy types (48.8%). While there were no significant relationships between epilepsy severity variables and CBCL broadband scales, the Total Problems scale was inversely related to intellectual functioning (r = -0.174, p = 0.023). Rates of anxiety and depression did not differ across epilepsy subtypes and no gender differences were found. Those with left-sided epilepsy had higher rates of externalizing problems (33.2%) than those with right (14.0%; χ[1, 88] = 4.55, p = 0.03), with rule-breaking behaviors (15.4%) being more common in left-hemisphere epilepsy (15.4% versus 2.3%; χ[1,88] = 4.66, p = 0.03). In summary, while no significant differences were found across epilepsy groups, the current study adds to the literature regarding lateralization effects and mood/behavior, with more externalizing problems in those with left hemisphere epilepsy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2021.107851DOI Listing
April 2021

Neuropsychological profiles of two patients with differing SCN8A-pathogenic variants.

Appl Neuropsychol Child 2020 Aug 27:1-6. Epub 2020 Aug 27.

Alberta Children's Hospital, Calgary, Canada.

The impact of gene-related early infancy onset epilepsies in cognitive development can be potentially devastating. Here we report two cases of SCN8A-related epilepsy that highlight the neuropsychological heterogeneity seen with differing de-novo pathogenic variants. Case 1 is a 6-year-old right-handed girl who presented with SCN8A-developmental and epileptic encephalopathy (SCN8A-DEE) and a missense pathogenic variant (c.802A > C), not previously documented in the literature. Her history includes speech and motor delay, with focal motor seizures starting at 4-months. Early EEG showed bilateral centroparietal epileptiform discharges. She shows motor and language delays and prominent motor tics. Testing documented Intellectual Disability (ID) (Mild) with widespread neuropsychological deficits (i.e., academics, attention/executive functions, memory, visual-spatial skills, fine motor, language). Case 2 is an 8-year-old right-handed girl who presented with SCN8A-related epilepsy with c.5630A > G pathogenic variant with seizure onset at 5-months. Her initial EEG showed right occipital spikes. She 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. These cases expand limited knowledge regarding neuropsychological functioning of children with SCN8A-related epilepsy with unique de-novo pathogenic variants. While SCN8A-DEE is clearly associated with ID, other pathogenic variants may show better preserved intellect, despite other neuropsychological and behavioral concerns.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2020.1807983DOI Listing
August 2020

A review of performance and symptom validity testing with pediatric populations.

Appl Neuropsychol Child 2020 Oct-Dec;9(4):292-306. Epub 2020 May 6.

Alberta Children's Hospital Research Institute and Alberta Health Sciences, Alberta, Canada.

Growing recognition and concerns of non-credible performance in pediatric populations have led clinicians to investigate the utility of performance and symptom validity tests (PVT/SVTs) among children and adolescents. Yet current research has indicated that a minority of clinicians routinely utilize a free-standing PVT in pediatric neuropsychological evaluations. The current article investigates the rationale for using PVT/SVTs, and the impact that failure of such exams have on other neurocognitive tests. A review of common adult PVTs and their appropriateness for use with specific pediatric clinical populations is presented, as well as empirical evidence for evaluating embedded validity indicators. The limited literature on SVTs with youth is also reviewed and provides additional insight into symptom exaggeration. There are various reasons children would provide noncredible performance, many of which are different from adults. A review of how the clinician should handle this behavior in pediatric evaluations is provided and what patient populations may present with a higher base rate of failure. Finally, various approaches are offered on how to explain these results to children and their caregivers.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2020.1750118DOI Listing
May 2020

The use of the MSVT in children and adolescents with epilepsy.

Appl Neuropsychol Child 2020 Oct-Dec;9(4):323-328. Epub 2020 Apr 16.

Neuropsychology Service, Alberta Children's Hospital, Calgary, Canada.

Pediatric neuropsychologists are increasingly recognizing the importance of performance validity testing during evaluations. The use of such measures to detect insufficient effort is of particular importance in pediatric epilepsy evaluations, where test results are often used to guide surgical decisions and failure to detect poor task engagement can result in postsurgical cognitive decline. The present investigation assesses the utility of the Medical Symptom Validity Test (MSVT) in 104 clinically referred children and adolescents with epilepsy. Though the overall failure rate was 15.4% of the total group, children with 2nd grade or higher reading skills (a requirement of the task) passed at a very high rate (96.6%). Of the three failures, two were unequivocally deemed true positives, while the third failed due to extreme somnolence during testing. Notably, for those with ≥2nd grade reading levels, MSVT validity indices were unrelated to patient age, intellectual functioning, or age of epilepsy onset, while modest relations were seen with specific memory measures, number of epilepsy medications, and seizure frequency. Despite these associations, however, this did not result in more failures in this population of children and adolescents with substantial neurologic involvement, as pass rates exceeded 92% for those with intellectual disability, high seizure frequency, high medication burden, and even prior surgical resection of critical memory structures.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2020.1750127DOI Listing
April 2020

The Utility of the Repeatable Battery of Neuropsychological Status in Patients with Temporal and Non-temporal Lobe Epilepsy.

Arch Clin Neuropsychol 2021 Feb;36(2):203-213

NYU-Langone Comprehensive Epilepsy Center, Department of Neurology, NYU School of Medicine, New York, NY 10016, USA.

Objective: The Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) is a brief neuropsychological battery that has been validated in the assessment of dementia and other clinical populations. The current study examines the utility of the RBANS in patients with epilepsy.

Methods: Ninety-eight patients with epilepsy completed the RBANS as part of a more comprehensive neuropsychological evaluation. Performance on the RBANS was evaluated for patients with a diagnosis of temporal lobe epilepsy (TLE; n = 51) and other epilepsy patients (non-TLE, n = 47) in comparison to published norms. Multivariate analysis of variance compared group performances on RBANS indices. Rates of impairment were also compared across groups using cutoff scores of ≤1.0 and ≤1.5 standard deviations below the normative mean. Exploratory hierarchical regressions were used to examine the relations between epilepsy severity factors (i.e., age of onset, disease duration, and number of antiepileptic drugs [AEDs]) and RBANS performance.

Results: TLE and non-TLE patients performed below the normative sample across all RBANS indices. Those with TLE performed worse than non-TLE patients on the Immediate and Delayed Memory indices and exhibited higher rates of general cognitive impairment. Number of AEDs was the only epilepsy severity factor that significantly predicted RBANS total performance, accounting for 14% of the variance.

Conclusions: These findings suggest that the RBANS has utility in evaluating cognition in patients with epilepsy and can differentiate TLE and non-TLE patients. Additionally, number of AEDs appears to be associated with global cognitive performance in adults with epilepsy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/arclin/acz056DOI Listing
February 2021

Factor structure of the CNS Vital Signs computerized cognitive battery in youth with neurological diagnoses.

Child Neuropsychol 2019 10 24;25(7):980-991. Epub 2019 Jan 24.

f Department of Brain Health Program , Copeman Healthcare Centre , Calgary , Canada.

Computerized cognitive batteries, such as CNS Vital Signs (CNSVS), can provide valuable information in clinical and research settings. However, psychometric properties, especially in children and adolescents, remain relatively understudied. The aim of this study was to investigate the factor structure of CNSVS in children and adolescents with neurological diagnoses. Participants with neurological diagnoses ( = 280) age 7-19 years were assessed as part of their clinical care at a tertiary hospital. All participants received the full CNSVS computerized cognitive battery, which contains seven subtests designed to measure attention, executive functioning, psychomotor speed, and memory. Principal components analyses were used to examine factor structure. Scores from CNSVS subtests loaded onto a three-component solution and accounted for 46% of the variance. The three components were deemed to best represent (1) speed, (2) memory, and (3) inhibition, with subtest scores loading differently than the original 11 primary and secondary domain scores would have suggested. Although the CNSVS program generates numerous primary and secondary domain scores, a three-component solution represents a more parsimonious approach to interpreting performance on the CNSVS in youth with neurological diagnoses. Confirmation of this factor solution in other samples is warranted.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2019.1569609DOI Listing
October 2019

The WISC-V in children and adolescents with epilepsy.

Child Neuropsychol 2019 10 24;25(7):992-1002. Epub 2019 Jan 24.

g Copeman Healthcare Centre.

Despite its popularity in the neuropsychological evaluation of children, the utility of the Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V) has not yet been investigated in children with epilepsy. Eighty clinically referred children and adolescents with epilepsy were administered the WISC-V as part of a comprehensive assessment and scores were compared to matched controls from the WISC-V standardization sample. tests compared WISC-V indices and subtests between patients and controls and Chi-square analyses compared the rates of low scores. Correlational analyses assessed the relationships between epilepsy severity variables (e.g., age of onset, duration of epilepsy, number of antiepileptic drugs, seizure frequency). All WISC-V composites and subtests were significantly lower in patients versus controls and the rate of low scores was higher in patients than controls for all composites and subtests with the exception of Figure Weights. The Working Memory Index and Processing Speed Index were most sensitive to impairment, while the Verbal Comprehension Index and Fluid Reasoning Index were least sensitive. Of the epilepsy severity variables, age of seizure onset and number of antiepileptic drugs were strong predictors of deficits, whereas seizure frequency was the weakest predictor. Importantly, no significant differences were seen in children with right hemisphere epilepsy versus left on the five WISC-V composites, though a trend was seen towards a lower Visual-Spatial Index in those with right-sided focal seizures.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2019.1571181DOI Listing
October 2019

Are we documenting performance validity testing in pediatric neuropsychological assessments? A brief report.

Child Neuropsychol 2019 11 24;25(8):1035-1042. Epub 2019 Jan 24.

f Private Practice , Woburn , MA , USA.

A 2016 survey of pediatric neuropsychologists found that 92% of clinicians reported use of "at least one" performance validity test (PVT) in each assessment. The present investigation sought to verify documented PVT use among clinicians by review of actual reports. A convenience sample of pediatric neuropsychological reports of children ages 6-17 were reviewed over an 24-month period (January 2015-January 2017); reports were those seen as part of our routine practice, including reports on children we were reevaluating, cases that we consulted on, or cases evaluated elsewhere presenting to our centers that required record review for clinical decision making (e.g., presurgical epilepsy evaluations). A total of 131 reports, from 102 unique neuropsychologists were reviewed. PVT usage was documented in only six reports, from six unique clinicians, representing only 4.58% of the reports (or 5.88% of clinicians), far below expectations recent survey results. Though sampling differences and documentation factors may account for some of this disparity, a "social desirability bias" on surveys is likely a major factor in explaining these discordant findings.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2019.1569606DOI Listing
November 2019

Noninvasive identification of seizure lateralization in children: Name that thing.

Neurology 2019 01 5;92(1):e1-e8. Epub 2018 Dec 5.

From the Department of Neurology (M.J.H.), Columbia University, New York; New York University (W.S.M.), NY; Tris Pharma, Inc. (W.T.S.), Monmouth Junction, NJ; Epilepsy Center (R.M.B.), and Department of Psychiatry and Psychology (P.K.), Cleveland Clinic, OH; Department of Psychology (C.M.S.), University of Florida Hospital for Children, Orlando; and Department of Psychology (M.L.S.), University of Toronto, Mississauga, Canada. W.S.M. is currently at Alberta Children's Hospital Research Institute, Canada. C.M.S. is currently at Space Coast Neuropsychology Center, Melbourne, FL.

Objective: With this prospective, observational study, we aimed to determine whether noninvasive language tasks, developed specifically for children, could reliably identify the hemisphere of seizure onset in pediatric epilepsy.

Methods: Seventy-eight children with unilateral epilepsy (44 left), aged 6-15 years (mean age = 11.8, SD = 2.6), completed the Children's Auditory Naming and Visual Naming Tests, the Boston Naming Test, and other verbal and nonverbal tasks. Multivariate analysis of variance was used to compare test performance between left and right hemisphere epilepsy groups, and χ analyses and odds ratios were used to examine classification of left vs right hemisphere epilepsy for individual patients based on test performance.

Results: Group comparisons revealed poorer auditory naming in children with left hemisphere epilepsy ( = 0.02), yet no significant differences on measures of visual naming, general intelligence, or other cognitive functions. Moreover, χ analyses using auditory naming cutoff scores to define intact vs impaired performance correctly classified seizure laterality in a significant proportion of children ( = 0.004). The odds of left hemisphere epilepsy were 4.2 times higher (95% confidence interval 1.4-11.7) than the odds of right hemisphere epilepsy with poor auditory naming performance. In the subset of patients with temporal lobe epilepsy (TLE), the odds of left TLE were 11.3 times higher (95% confidence interval 2.00-63.17) than the odds of right TLE with poor auditory naming performance.

Conclusion: Contrary to previous findings, naming performance can lateralize hemisphere of seizure onset in children with epilepsy, thereby assisting in the preoperative workup for pediatric epilepsy surgery.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336167PMC
January 2019

Memory in children with epilepsy: Utility of the WRAML-2 in generalized and focal epilepsy syndromes.

Epilepsy Behav 2018 12 26;89:30-36. Epub 2018 Oct 26.

Neuropsychology Service, Alberta Children's Hospital, Alberta Children's Hospital Research Institute, University of Calgary, Canada.

The material-specific model for memory impairment predicts that verbal memory deficits are seen with left temporal seizures, and visual memory deficits are seen with right temporal seizures (Henkin et al., 2005). In pediatric epilepsy, seizure pathology has not always yielded the expected material-specific memory profiles. This study used the Wide Range Assessment of Memory and Learning-Second Edition (WRAML-2) to assess memory functioning among pediatric patients with epilepsy. The WRAML-2 was administered to 180 youth with epilepsy during their neuropsychological evaluations. Memory and recognition scores correlated significantly with epilepsy severity variables. There were no significant differences in verbal and visual memory and recognition index scores among patients with generalized epilepsy or among those with lateralized or localized electroencephalography (EEG) patterns and lesions on imaging. However, clinically meaningful verbal versus visual discrepancy scores were significantly related to lateralized abnormalities on EEG and magnetic resonance imaging (MRI) results. Most patients with right hemisphere pathology showed the expected material-specific visual memory deficits, while fewer than 15% of the left hemisphere cases showed the expected verbal memory deficits. Over one-third of those with identified left-sided pathology showed clinically significant deficits in visual memory. Findings are incongruent with the material-specific memory model and reflect the fact that early developmental neurological insults can lead to functional reorganization/crowding effects in children with left hemisphere epilepsy. On exploratory analyses, there were no significant differences in discrepancy scores among participants with left, right, and bilateral languages on Wada and functional MRI (fMRI). However, those with right and bilateral language dominance were more likely to show discrepancies that were incongruent with the material-specific model.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2018.10.002DOI Listing
December 2018

Derivation of New Embedded Performance Validity Indicators for the Child and Adolescent Memory Profile (ChAMP) Objects Subtest in Youth with Mild Traumatic Brain Injury.

Arch Clin Neuropsychol 2019 Jun;34(4):531-538

Copeman Healthcare Centre, Calgary, Alberta, Canada.

Background: Development of an embedded performance validity test (PVT) is desired for visual memory tests. The goal of this study was to derive an embedded PVT for the Child and Adolescent Memory Profile (ChAMP) Objects visual memory subtest in youth with mild traumatic brain injury (MTBI).

Methods: Children and adolescents (N = 91; mean age = 14.9 years, SD = 2.2, range = 8-18) on average 25.2 weeks (SD = 15.4) post-MTBI were administered ChAMP Objects. Two stand-alone PVTs (Test of Memory Malingering and Medical Symptom Validity Test) were administered, which allowed for grouping into valid (zero failed stand-alone PVTs) and invalid (both stand-alone PVTs failed). Cutoff scores for invalid performance on ChAMP Objects and Objects Delayed were established using failure on two PVTs as the criterion.

Results: One in five youth (n = 19) failed both PVTs. Invalid performance was not associated with demographics or time since injury, but was significantly correlated with both ChAMP Objects (r = .53, p<.001) and Objects Delayed (r = -.63, p<.001). Area under the curve suggested adequate discrimination by Objects (.87) and excellent discrimination by Objects Delayed (.91). A cutoff scaled score of 5 or less on ChAMP Objects provided sensitivity of 58% for detecting invalid performance with 96% sensitivity. A cutoff scaled score of 5 or less on ChAMP Objects Delayed achieved sensitivity of 63% and specificity of 96%. Interpreting the two embedded PVTs simultaneously improved sensitivity to 79% with 93% specificity.

Conclusion: This study yields promising new embedded PVTs for the ChAMP Objects subtest with strong sensitivity and specificity for detecting invalid performance in youth with MTBI.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/arclin/acy068DOI Listing
June 2019

A new kid on the block: The Memory Validity Profile (MVP) in children with neurological conditions.

Child Neuropsychol 2019 05 6;25(4):561-572. Epub 2018 Jun 6.

e Brain Health Program , Copeman Healthcare Centre , Calgary , Canada.

Determining the validity of obtained data is an inherent part of a neuropsychological assessment. The purpose of this study was investigate the failure rate of the Memory Validity Profile (MVP) in a large clinical sample of children and adolescents with neurological diagnoses. Data were obtained from 261 consecutive patients (mean age = 12.0, SD = 3.9, range = 5-19) who were referred for a neuropsychological assessment in a tertiary care pediatric hospital and were administered the MVP. In this sample, 4.6% of youth failed the MVP. Mean administration time for the MVP was 7.4 min, although time to complete was not associated with failure rates. Failure rates were held relatively consistent at approximately 5% across age ranges, diagnoses, and psychomotor processing speed abilities. Having very low, below normal, or above normal intellectual abilities did not alter failure rate on the MVP. However, those with intellectual disability (i.e., IQ<70) had a higher fail rate at 12% on MVP Total Score, but only 6% on the MVP Visual portion. Failure rates on the MVP were associated with lower scores on memory tests. This study provides support for using the MVP in children as young as 5 years with neurological diagnoses.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2018.1477929DOI Listing
May 2019

Neuropsychology Within a Tertiary Care Epilepsy Center.

Arch Clin Neuropsychol 2018 May;33(3):354-364

New York University School of Medicine, Department of Neurology, New York, NY, USA.

Epilepsy is a prevalent condition characterized by variations in its clinical presentation, etiology, and amenability to treatment. Through history, neuropsychologists have played a significant role in performing research studies on changes in language, memory, and executive functioning in patients with epilepsy, including those undergoing surgical treatment for medically refractory seizures. These studies provided a foundation for establishing neuropsychologists as critical members of interdisciplinary clinical teams specializing in evaluation and treatment of epilepsy. This article describes a number of elements of specialized neuropsychological practice that have evolved over the years within a tertiary care epilepsy center. Through diagnostic interview and objective testing, the neuropsychologist is able to provide a more complete and objective understanding of a patient's cognitive and behavioral functioning than what is obtained by other clinicians through brief office visits. While assessment of cognition, mood, and behavior is the most commonly provided service to patients with epilepsy from all age groups, there are many instances when neuropsychologists in surgical settings are called to perform more specialized procedures, including the intracarotid amytal (Wada) procedure, electrocortical stimulation mapping of language eloquent brain regions, and functional brain imaging procedures. While working as a neuropsychologist on an interdisciplinary epilepsy care team requires specialized knowledge and clinical training, it is extremely satisfying due to the diversity of the patient population and the particular challenges resulting from the often unique manner that cognition and behavior can be affected in patients with epilepsy across the lifespan.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/arclin/acx134DOI Listing
May 2018

Reliable Digit Span: Does it Adequately Measure Suboptimal Effort in an Adult Epilepsy Population?

Arch Clin Neuropsychol 2019 Mar;34(2):259-267

Department of Neurology, NYU-Langone Comprehensive Epilepsy Center, NYU-Langone Health, NYU School of Medicine, New York, NY, USA.

Objective: Assessment of performance validity is a necessary component of any neuropsychological evaluation. Prior research has shown that cutoff scores of ≤6 or ≤7 on Reliable Digit Span (RDS) can detect suboptimal effort across numerous adult clinical populations; however, these scores have not been validated for that purpose in an adult epilepsy population. This investigation aims to determine whether these previously established RDS cutoff scores could detect suboptimal effort in adults with epilepsy.

Method: Sixty-three clinically referred adults with a diagnosis of epilepsy or suspected seizures were administered the Digit Span subtest of the Wechsler Adult Intelligence Scale (WAIS-III or WAIS-IV). Most participants (98%) passed Trial 2 of the Test of Memory Malingering (TOMM), achieving a score of ≥45.

Results: Previously established cutoff scores of ≤6 and ≤7 on RDS yielded a specificity rate of 85% and 77% respectively. Findings also revealed that RDS scores were positively related to attention and intellectual functioning. Given the less than ideal specificity rate associated with each of these cutoff scores, together with their strong association to cognitive factors, secondary analyses were conducted to identify more optimal cutoff scores. Preliminary results suggest that an RDS cutoff score of ≤4 may be more appropriate in a clinically referred adult epilepsy population with a low average IQ or lower.

Conclusions: Preliminary findings indicate that cutoff scores of ≤6 and ≤7 on RDS are not appropriate in adults with epilepsy, especially in individuals with low average IQ or below.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/arclin/acy027DOI Listing
March 2019

Auditory and visual naming tests for children.

Child Neuropsychol 2018 10 20;24(7):903-922. Epub 2017 Dec 20.

d Department of Psychology , University of Toronto , Mississauga , Canada.

Assessment of naming in children has been hampered by the use of tests that were developed, either to assess naming in adults or to assess related verbal functions in children. We developed comparable visual naming test (VNT) and auditory description naming (ANT) specifically for children. We collected normative data, not only for accuracy, typically the sole performance measure, but also for response time (RT) and reliance on phonemic cuing. The normative sample consisted of 200 typically developing children, ages 6-15, with 40 children per 2-year age group (6-7, 8-9, 10-11, 12-13, and 14-15). Children were tested individually by a trained examiner. Based on item analysis, naming tests were finalized at 36 items for ages 8-15 and 28 items for ages 6-7. Age-stratified normative data are provided for accuracy, mean RT, tip-of-the-tongues (i.e., delayed but accurate responses plus items named following phonemic cueing), and a summary score, which incorporates all performance measures. Internal and test-retest reliability coefficients for both tests were reasonable. Accuracy scores were high across age groups, indicating that item names were within the mental lexicon of most typically developing children. By contrast, time and cue-based scores improved with age, reflecting greater efficiency in word retrieval with development. These complementary auditory naming and visual naming tests for children address a longstanding clinical need, improving upon the current standard with respect to the sensitivity of performance measures and the addition of an auditory verbal component to the assessment of naming in children.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2017.1414172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152825PMC
October 2018

Utility of the Behavior Rating Inventory of Executive Function - Preschool version (BRIEF-P) in young children with epilepsy.

Child Neuropsychol 2018 10 29;24(7):975-985. Epub 2017 Aug 29.

a Department of Neurology, Comprehensive Epilepsy Center , New York University , New York , NY , USA.

Executive functioning deficits are prominent in children with epilepsy. Although instruments, such as the Behavior Rating Inventory of Executive Function (BRIEF), are useful in detecting executive dysfunction in school-age children with epilepsy, little data are available for younger children. The present study evaluates the ability of the Behavior Rating Inventory of Executive Function - Preschool Version (BRIEF-P) to detect executive dysfunction in preschool-age children with epilepsy. Parents of 51 clinically referred children with epilepsy (age: M = 1.99 years, SD = 1.29 years, range = 2-5 years) completed the BRIEF-P. Using a cutoff t score of ≥65 as the threshold for impairment, the BRIEF-P's ability to detect executive dysfunction within this clinical population was established. Additionally, correlational analyses were used to assess the relations between epilepsy severity factors and BRIEF-P indices. Epilepsy severity variables that were significantly related to BRIEF-P indices were entered into a linear regression model to explore their predictive ability. Emergent metacognition (emergent metacognition index [EMI]; 59%) and the global executive composite (43%) were the most frequently elevated indices. The most commonly elevated subscales were working memory (65%), inhibition (37%), and planning/organization (35%). Age of seizure onset, seizure frequency, and number of antiepileptic drugs were not significantly correlated with BRIEF-P indices. However, children with lower intellectual ability were rated as having greater executive dysfunction, specifically with EMI (r = -.30). Still, intellectual functioning only accounted for a small percentage (9%) of the variance in EMI scores. The current pilot study demonstrates that the BRIEF-P shows promise in identifying executive dysfunction in preschool-age children with epilepsy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2017.1365829DOI Listing
October 2018

Sensitivity of the Wisconsin Card Sorting Test (64-Card Version) versus the Tower of London (Drexel Version) for detecting executive dysfunction in children with epilepsy.

Child Neuropsychol 2018 04 3;24(3):354-369. Epub 2017 Jan 3.

g Space Coast Neuropsychology Center , Melbourne , FL , USA.

Executive function deficits are common in children and adolescents with epilepsy. Though the Wisconsin Card Sorting Task (WCST) is often considered the "gold standard" for executive function assessment, its sensitivity-particularly in the case of the 64-card version (WCST-64)-is insufficiently established in pediatric samples, including children and adolescents with epilepsy. The present investigation assesses the sensitivity of the WCST-64 in children and adolescents with epilepsy in comparison to another measure: the Tower of London - Drexel Version (TOL-DX). A total of 88 consecutively referred children and adolescents with epilepsy were administered both the WCST-64 and TOL-DX as part of a comprehensive neuropsychological evaluation. The sensitivity of WCST-64 and TOL-DX variables were established and relations with epilepsy severity measures and other executive function measures were assessed. Of the WCST-64 variables, Perseverative Responses is the most sensitive, but detected executive function impairment in only 19% of this clinically referred sample; in contrast, the TOL-DX Rule Violations detected executive function impairment in half of the sample. Further, TOL-DX performances are more strongly related to epilepsy severity variables and other executive function measures in comparison to the WCST-64. Despite its popularity amongst clinicians, the WCST-64 is not as sensitive to executive dysfunction in comparison to other measures of comparable administration time, such as the TOL-DX.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2016.1265101DOI Listing
April 2018

Material specificity of memory deficits in children with temporal tumors and seizures: A case series.

Appl Neuropsychol Child 2017 Oct-Dec;6(4):335-344. Epub 2016 Jul 1.

f NYU Comprehensive Epilepsy Center, New York University School of Medicine , New York , New York.

In adults, left temporal lobe pathology is typically associated with verbal memory deficits, whereas right temporal lobe pathology is thought to produce visual memory deficits in right-handed individuals. However, in children and adolescents with temporal lobe pathology, conclusions regarding material specificity of memory deficits remain unclear. The goal of the present case series is to examine the profile of verbal and visual memory impairment in children with temporal lobe tumors. Three patients with identified right temporal tumors and three patients with left temporal tumors are included. The Wide Range Assessment of Memory and Learning-Second Edition (WRAML-2) was administered as part of a larger neuropsychological battery. As anticipated, participants with right temporal lesions showed impaired visual memory relative to intact verbal memory. Interestingly, although the discrepancies between verbal and visual indices were less extreme, those with left temporal lesions showed a similar memory profile. These seemingly counterintuitive findings among left temporal tumor patients likely reflect less hemispheric specialization in children in comparison to adults and the fact that early developmental lesions in the left hemisphere may lead to functional reorganization of language-based skills.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2016.1197126DOI Listing
May 2018

Disabling amnestic syndrome following stereotactic laser ablation of a hypothalamic hamartoma in a patient with a prior temporal lobectomy.

Epilepsy Behav Case Rep 2015 10;4:60-2. Epub 2015 Aug 10.

NYU Langone Medical Center, New York, NY 10016, USA.

A 19-year-old man with cortical dysplasia and intractable focal seizures underwent a right temporal lobectomy. A hypothalamic hamartoma was subsequently recognized, and he then underwent MRI-guided stereotactic laser ablation. Unfortunately, he sustained damage to the bilateral medial mammillary bodies and suffered significant memory loss. We review laser ablation therapy for hypothalamic hamartomas and the anatomy of the memory network. We postulate that his persistent memory disorder resulted from a combination of the right temporal lobectomy and injury to the bilateral medial mammillary bodies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ebcr.2015.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536301PMC
August 2015

Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females.

Autism Res 2016 Feb 26;9(2):311-20. Epub 2015 Jun 26.

Department of Neurology, Comprehensive Epilepsy Center, New York University, New York, New York.

The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. Autism Res 2016, 9: 311-320. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/aur.1514DOI Listing
February 2016

Cognitive estimations as a measure of executive dysfunction in childhood epilepsy.

Child Neuropsychol 2016 11;22(1):65-80. Epub 2014 Nov 11.

e Departments of Neurology and Psychiatry , Mt Sinai School of Medicine , New York , NY , USA.

Children and adolescents with epilepsy are known to demonstrate executive function deficits. Despite prior work that has shown that cognitive estimation tasks are sensitive to executive dysfunction in children, such tasks have not been studied in children with epilepsy. This is particularly important given the fact that executive tasks have heretofore shown poor ecological validity, and it has been speculated that estimation tasks may show stronger ecological validity than other executive tests. One hundred and thirteen clinically referred children and adolescents with epilepsy were included. The Biber Cognitive Estimations Test was sensitive to cognitive dysfunction, with about half showing impairments on this task in comparison to age-matched normative data; the most frequently impaired subscales were quantity estimation and time estimation. Moreover, the Biber Cognitive Estimation Test showed moderate correlations with not only overall intellectual functions and academic achievement but also other commonly administered tests of executive functions, including digit span, Trailmaking, and the Tower of London but not with the contingency naming test. Cognitive estimations were also modestly correlated with age of epilepsy onset but not other epilepsy-severity variables such as number of antiepilepsy drugs (AEDs) or seizure frequency. Unfortunately, the hypothesis that the Biber Cognitive Estimation Test would show strong ecological validity was not supported, as it showed weak relations with parent-reported executive function deficits. The significance and limitations of this investigation are discussed.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2014.967670DOI Listing
February 2016

Motor skills development in children with inattentive versus combined subtypes of ADHD.

Appl Neuropsychol Child 2014 25;3(2):145-51. Epub 2013 Jan 25.

a Department of Child and Adolescent Psychiatry , Child Study Center, New York University School of Medicine , New York , New York.

The relations between attention-deficit hyperactivity disorder (ADHD) and motor skills are well documented, with research indicating both early and lifelong motor deficits in children with this disorder. Despite neuroanatomical and neurodevelopmental differences, which may predict differential rates of motor impairment between ADHD subtypes, evaluation of motor skill deficits in children with different presentations are limited in scope and equivocal in findings. The present investigation evaluated early motor development history and objectively measured motor skills in children with ADHD-Inattentive subtype (ADHD-I) and ADHD-Combined subtype (ADHD-C). One hundred and one children with ADHD-I (n = 53) and ADHD-C (n = 48) were included. Variables included Full-Scale IQ (FSIQ), history of motor delays, and utilization of early intervention services, as well as objectively measured motor impairment as assessed via tasks of fine-motor coordination. No between-group differences were found for FSIQ, but differences in age emerged, with the ADHD-I group being older. No differences in early motor delays were observed, though a considerably higher percentage of children with ADHD-C demonstrated early difficulties. Surprisingly, although children and adolescents with ADHD-C reported more frequent utilization of early intervention services, those with ADHD-I exhibited greater levels of current motor impairment on objective tasks. Given the over-representation of older children in the ADHD-I group, data were reanalyzed after excluding participants older than 10 years of age. Although the between-group differences were no longer significant, more than twice the number of parents of children with ADHD-C reported early motor delays, as compared with the ADHD-I group. Overall, children with ADHD-I were more likely to exhibit current objectively measured motor impairment, possibly due to later identification, less intervention, and/or different neurodevelopmental substrates underlying this disorder subtype.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2012.759466DOI Listing
November 2014

Attention and executive functions in children with epilepsy: what, why, and what to do.

Appl Neuropsychol Child 2014 21;3(3):215-25. Epub 2014 Feb 21.

a Comprehensive Epilepsy Center, New York University , New York , New York.

Attention and executive function deficits are a common sequelae of many neurological conditions of childhood. Those with epilepsy frequently show such deficits, as executive dysfunction is common in all epilepsy syndromes of childhood. The purpose of this article is to review what is known about attention and executive functions, including the neurological underpinnings of these skills. Then, general cognitive function and dysfunction in childhood epilepsy is discussed with a special focus on attention and executive function impairment. Finally, treatment considerations for children and adolescents with these deficits are reviewed and future directions are discussed.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2013.839605DOI Listing
March 2015

Safety of staged epilepsy surgery in children.

Neurosurgery 2014 Feb;74(2):154-62

*Division of Pediatric Neurosurgery, Department of Neurosurgery, ‡The Comprehensive Epilepsy Center, NYU Langone Medical Center, New York University School of Medicine, New York, New York; §Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv, Israel; ‖Department of Neurology, The Medical College of Wisconsin, Milwaukee, Wisconsin.

Background: Surgical resection of epileptic foci relies on accurate localization of the epileptogenic zone, often achieved by subdural and depth electrodes. Our epilepsy center has treated selected children with poorly localized medically refractory epilepsy with a staged surgical protocol, with at least 1 phase of invasive monitoring for localization and resection of epileptic foci.

Objective: To evaluate the safety of staged surgical treatments for refractory epilepsy among children.

Methods: Data were retrospectively collected, including surgical details and complications of all patients who underwent invasive monitoring.

Results: A total of 161 children underwent 200 admissions including staged procedures (>1 surgery during 1 hospital admission), and 496 total surgeries. Average age at surgery was 7 years (range, 8 months to 16.5 years). A total of 250 surgeries included resections (and invasive monitoring), and 189 involved electrode placement only. The cumulative total number of surgeries per patient ranged from 2 to 10 (average, 3). The average duration of monitoring was 10 days (range, 1-30). There were no deaths. Follow-up ranged from 1 month to 10 years. Major complications included unexpected new permanent mild neurological deficits (2%/admission), central nervous system or bone flap infections (1.5%/admission), intracranial hemorrhage, cerebrospinal fluid leak, and a retained strip (each 0.5%/admission). Minor complications included bone absorption (5%/admission), positive surveillance sub-/epidural cultures in asymptomatic patients (5.5%/admission), noninfectious fever (5%/admission), and wound complications (3%/admission). Thirty complications necessitated additional surgical treatment.

Conclusion: Staged epilepsy surgery with invasive electrode monitoring is safe in children with poorly localized medically refractory epilepsy. The rate of major complications is low and appears comparable to that associated with other elective neurosurgical procedures.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1227/NEU.0000000000000231DOI Listing
February 2014

Neuropsychological endophenotypes in ADHD with and without epilepsy.

Appl Neuropsychol Child 2012 3;1(2):121-8. Epub 2012 Aug 3.

Comprehensive Epilepsy Center, New York University, New York, NY 10016, USA.

Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in children with epilepsy. Despite similarities in behavioral manifestations of inattention and hyperactivity, it is unclear whether the neuropsychological endophenotypes of children with developmental ADHD differ from those with ADHD in the context of epilepsy. The present study compared groups of clinically referred children with both ADHD-Inattentive subtype (ADHD-I) and ADHD-Combined subtype (ADHD-C) to children with ADHD-I and ADHD-C and epilepsy on neuropsychological measures of intellectual functioning, auditory attention, working memory, and sustained attention and response inhibition. Those with ADHD and epilepsy performed more poorly on measures of intellectual function (e.g., Full-Scale IQ, Verbal IQ, Performance IQ) as well as auditory attention and working memory. Differences across the groups were also seen on a continuous performance test. Follow-up correlational analyses showed that variables such as seizure frequency and number of antiepilepsy medications predicted cognitive dysfunction in the epilepsy groups. Overall results suggest that the neuropsychological endophenotypes in developmental ADHD versus ADHD in epilepsy differ with seizure-related variables predicting cognitive dysfunction.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/21622965.2012.709421DOI Listing
September 2013

Clinical utility of reliable digit span in assessing effort in children and adolescents with epilepsy.

Arch Clin Neuropsychol 2012 Nov 9;27(7):735-41. Epub 2012 Jul 9.

Department of Professional Psychology and Family Therapy, Seton Hall University, South Orange, NJ, USA.

The assessment of effort is an important aspect of a comprehensive neuropsychological evaluation, as this can significantly impact data interpretation. While recent work has validated the appropriateness of adult-derived cutoffs for standalone effort measures in younger populations, little research has focused on embedded effort measures in children. The present study includes 54 clinically referred children and adolescents (32 males/22 females; aged 6-17) with a confirmed diagnosis of epilepsy. Reliable Digit Spans (RDSs) were calculated and the Test of Memory Malingering (TOMM) was administered in the context of a comprehensive neuropsychological evaluation. Using a previously published RDS cutoff of ≤6, a pass rate of only 65% was obtained, well below the recommended 90% pass rate for an effective effort index. In contrast, when adult criteria were used on TOMM Trial 2, a 90% pass rate was observed. RDS scores were significantly correlated with IQ estimates (r = .59, p < .001) and age (r = .61, p < .001). The difference between RDS and the TOMM on the participant outcome was statistically significant (χ(2) = 9.05, p = .003). These results suggest that RDS appears to yield a large number of false positives and, therefore, may be of limited utility in detecting poor effort in a pediatric epilepsy population. These findings likely extend to other pediatric populations that are known to have significant cognitive loss.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/arclin/acs063DOI Listing
November 2012

Detecting epilepsy-related cognitive problems in clinically referred children with epilepsy: is the WISC-IV a useful tool?

Epilepsia 2012 Jun 3;53(6):1060-6. Epub 2012 May 3.

Alberta Health Services and Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.

Purpose: The Wechsler Intelligence Scale for Children - Fourth Edition is the most widely used intelligence quotient (IQ) test in use today. However, despite numerous studies on IQ in childhood epilepsy, data exist almost exclusively from prior editions of the test, and no studies to date provide information on the sensitivity of specific WISC-IV scores (full-scale IQ [FSIQ], index, and subtest scores) to epilepsy-related cognitive impairments. The goal of this study was to determine the relative sensitivity of WISC-IV index and subscale scores in detecting cognitive problems in a group of clinically referred children with epilepsy compared to matched controls, and to define the relationship among WISC-IV scales, demographic factors, and epilepsy-related variables.

Methods: WISC-IV data for children with epilepsy and high seizure burden were obtained from the Alberta Children's Hospital (ACH) and the New York University Comprehensive Epilepsy Center (NYU), two tertiary care medical centers for pediatric epilepsy. All children were clinically referred and received a standard assessment including WISC-IV. Matched controls were obtained from the WISC-IV Canadian and American standardization samples.

Key Findings: WISC-IV scores from 212 children were included: 106 children with epilepsy (46 girls, 60 boys; mean age 11.0 years, standard deviation [SD] 3.1; parental education 14.5 years, SD 2.8), and 106 controls matched for age, gender, ethnicity, and parental education. Of the children with epilepsy, 44 had a clearly lateralized focus on electroencephalography (EEG) involving either the right or left hemisphere (26 left, 18 right). FSIQ for the epilepsy group was significantly lower than for controls, and 36.8% of children had IQs compatible with intellectual disability (FSIQ < 70), versus <1% of controls. In children with epilepsy, Working Memory and Processing Speed Index scores were lower than those for Verbal Comprehension and Perceptual Reasoning (p < 0.01). At the subtest level, scores for children with epilepsy were highest on visual and verbal subtests measuring reasoning skills such as Matrix Reasoning, and lowest on Coding (mean 5.93, SD 3.6). In terms of percentage of children on each subtest with low scores (i.e., scores below 2 SDs from the expected normative mean of 10), the Coding subtest identified the most children (28.3%) with low scores, and the Similarities subtest identified the fewest (16%). Later age at onset and shorter epilepsy duration were both correlated with higher WISC-IV FSIQ and index scores (r correlation coefficient values ranging from 0.36 to 0.44, p < 0.0001), and number of current and previous antiepileptic drug trials were both inversely correlated with FSIQ and index scores (r -0.27 to -0.47, all p-values < 0.01). Neither the FSIQ nor the index scores were significantly related to seizure frequency. A similar pattern was found for subtest scores. No differences in FSIQ, index scores, or subtest scores were found between children with left- and right-hemisphere seizure foci, or between those with positive or negative magnetic resonance imaging (MRI) findings.

Significance: The WISC-IV is sensitive to epilepsy-related cognitive problems in clinically referred children with high seizure burden, particularly problems relating to expressive verbal, working memory, and processing speed difficulties. Compared to healthy children, these children have a very high rate of cognitive difficulties as assessed by the WISC-IV. The usefulness of the WISC-IV in detecting cognitive deficits in children with milder forms of epilepsy remains to be determined.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2012.03493.xDOI Listing
June 2012

Pediatric multiple sclerosis: what we know and where are we headed?

Child Neuropsychol 2013 1;19(1):1-22. Epub 2012 Mar 1.

New York University School of Medicine, Department of Neurology, Comprehensive Epilepsy Center, New York, USA.

Multiple Sclerosis (MS), an autoimmune mediated disease of the central nervous system, has historically been considered a disease of young adulthood. However, there has been increasing recognition that the disease can occur in adolescence and even early childhood and recent years have witnessed a surge of studies documenting the clinical features of the disease as it pertains to this young population. The purpose of this article is to review the literature on MS in childhood and adolescence, including the clinical presentation of the disease in this group, neuropathology and pathogenesis, magnetic resonance imaging findings, as well as neuropsychological and psychosocial considerations.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2011.639758DOI Listing
June 2013

Assessment of executive functioning in childhood epilepsy: the Tower of London and BRIEF.

Child Neuropsychol 2012 3;18(4):404-15. Epub 2011 Oct 3.

Department of Neurology, Comprehensive Epilepsy Center, New York University, New York, USA.

Children and adolescents with epilepsy are known to demonstrate executive function dysfunction, including working memory deficits and planning deficits. Accordingly, assessing specific executive function skills is important when evaluating these individuals. The present investigation examined the utility of two measures of executive functions-the Tower of London and the Behavioral Rating Inventory of Executive Functioning (BRIEF)-in a pediatric epilepsy sample. Ninety clinically referred children and adolescents with seizures were included. Both the Tower of London and BRIEF identified executive dysfunction in these individuals, but only the Tower of London variables showed significant relations with epilepsy severity variables such as age of epilepsy onset, seizure frequency, number of antiepileptic medications, etc. Further, the Tower of London and BRIEF variables were uncorrelated. Results indicate that objective measures of executive function deficits are more closely related to epilepsy severity but may not predict observable deficits, as reported by parents. Comprehensive evaluation of such deficits, therefore, should include both objective measures as well as subjective ratings from caregivers.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2011.613812DOI Listing
October 2012

Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.

J Genet Psychol 2011 Jan-Mar;172(1):56-66

Mount Sinai School of Medicine, Department of Neurology, USA.

The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/00221325.2010.506604DOI Listing
May 2011