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Prenatal Diagnosis Sep 2023A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with...
A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss-of-function heterozygous variant in the SMARCC1 gene inherited from an unaffected mother. The SMARCC1 gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the SMARCC1 OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, SMARCC1 is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as likely pathogenic and empowered the couple to make informed reproductive choices.
Topics: Female; Humans; Pregnancy; Genetic Counseling; Heterozygote; Hydrocephalus; Penetrance; Transcription Factors
PubMed: 37639281
DOI: 10.1002/pd.6426 -
The Clinical Neuropsychologist Apr 2024The present study aims to evaluate the classification accuracy and resistance to coaching of the Inventory of Problems-29 (IOP-29) and the IOP-Memory (IOP-M) with a...
Classification accuracy and resistance to coaching of the Spanish version of the Inventory of Problems-29 and the Inventory of Problems-Memory: A simulation study with mTBI patients.
The present study aims to evaluate the classification accuracy and resistance to coaching of the Inventory of Problems-29 (IOP-29) and the IOP-Memory (IOP-M) with a Spanish sample of patients diagnosed with mild traumatic brain injury (mTBI) and healthy participants instructed to feign. Using a simulation design, 37 outpatients with mTBI (clinical control group) and 213 non-clinical instructed feigners under several coaching conditions completed the Spanish versions of the IOP-29, IOP-M, Structured Inventory of Malingered Symptomatology, and Rivermead Post Concussion Symptoms Questionnaire. The IOP-29 discriminated well between clinical patients and instructed feigners, with an excellent classification accuracy for the recommended cutoff score (FDS ≥ .50; sensitivity = 87.10% for coached group and 89.09% for uncoached; specificity = 95.12%). The IOP-M also showed an excellent classification accuracy (cutoff ≤ 29; sensitivity = 87.27% for coached group and 93.55% for uncoached; specificity = 97.56%). Both instruments proved to be resistant to symptom information coaching and performance warnings. The results confirm that both of the IOP measures offer a similarly valid but different perspective compared to SIMS when assessing the credibility of symptoms of mTBI. The encouraging findings indicate that both tests are a valuable addition to the symptom validity practices of forensic professionals. Additional research in multiple contexts and with diverse conditions is warranted.
Topics: Humans; Brain Concussion; Neuropsychological Tests; Sensitivity and Specificity; Mentoring; Malingering; Reproducibility of Results
PubMed: 37615421
DOI: 10.1080/13854046.2023.2249171 -
Neuropsychology Review Sep 2023Forensic neuropsychological examinations with determination of malingering have tremendous social, legal, and economic consequences. Thousands of studies have been... (Review)
Review
Forensic neuropsychological examinations with determination of malingering have tremendous social, legal, and economic consequences. Thousands of studies have been published aimed at developing and validating methods to diagnose malingering in forensic settings, based largely on approximately 50 validity tests, including embedded and stand-alone performance validity tests. This is the first part of a two-part review. Part I explores three statistical issues related to the validation of validity tests as predictors of malingering, including (a) the need to report a complete set of classification accuracy statistics, (b) how to detect and handle collinearity among validity tests, and (c) how to assess the classification accuracy of algorithms for aggregating information from multiple validity tests. In the Part II companion paper, three closely related research methodological issues will be examined. Statistical issues are explored through conceptual analysis, statistical simulations, and through reanalysis of findings from prior validation studies. Findings suggest extant neuropsychological validity tests are collinear and contribute redundant information to the prediction of malingering among forensic examinees. Findings further suggest that existing diagnostic algorithms may miss diagnostic accuracy targets under most realistic conditions. The review makes several recommendations to address these concerns, including (a) reporting of full confusion table statistics with 95% confidence intervals in diagnostic trials, (b) the use of logistic regression, and (c) adoption of the consensus model on the "transparent reporting of multivariate prediction models for individual prognosis or diagnosis" (TRIPOD) in the malingering literature.
PubMed: 37612531
DOI: 10.1007/s11065-023-09601-7 -
Neuropsychology Review Sep 2023Neuropsychologists' conclusions and courtroom testimony on malingering can have profound impact. Intensive and ingenious research has advanced our capacities to identify... (Review)
Review
Neuropsychologists' conclusions and courtroom testimony on malingering can have profound impact. Intensive and ingenious research has advanced our capacities to identify both insufficient and sufficient effort and thus make worthy contributions to just conflict resolution. Nevertheless, given multiple converging factors, such as misleadingly high accuracy rates in many studies, practitioners may well develop inflated confidence in methods for evaluating effort/malingering. Considerable research shows that overconfidence often increases diagnostic and predictive error and may lead to fixed conclusions when caution is better advised. Leonhard's work thus performs an important service by alerting us to methodological considerations and shortcomings that can generate misimpressions about the efficacy of effort/malingering assessment. The present commentary covers various additional complicating factors in malingering assessment, including other factors that also inflate confidence; subtle and perhaps underappreciated methodological flaws that are inversely related to positive study outcomes (i.e., the worse the flaws the better methods appear to be); oversimplified classifications schemes for studying and evaluating effort that overlook, for example, common mixed presentations (e.g., malingering and genuinely injured); and the need to expand research across a greater range and severity of neuropsychological conditions and diverse groups. More generally, although endorsing various points that Leonhard raises, a number of questions and concerns are presented, such as methods for calculating the impact of case exclusions in studies. Ultimately, although Leonhard's conclusions may be more negative than is justified, it seems fair to categorize methods for assessing malingering/effort as advancing, but not yet advanced, with much more needed to be done to approach that latter status.
PubMed: 37594693
DOI: 10.1007/s11065-023-09605-3 -
Neuropsychology Review Sep 2023Dr. Leonhard presents a comprehensive and insightful critique of the existing malingering research literature and its implications for neuropsychological practice. Their... (Review)
Review
Dr. Leonhard presents a comprehensive and insightful critique of the existing malingering research literature and its implications for neuropsychological practice. Their statistical critique primarily focuses on the crucial issue of diagnostic inference when multiple tests are involved. While Leonhard effectively addresses certain misunderstandings, there are some overlooked misconceptions within the literature and a few new confusions were introduced. In order to provide a balanced commentary, this evaluation considers both Leonhard's critiques and the malingering research literature. Furthermore, a concise introduction to Bayesian diagnostic inference, utilizing the results of multiple tests, is provided. Misunderstandings regarding Bayesian inference are clarified, and a valid approach to Bayesian inference is elucidated. The assumptions underlying the simple Bayes model are thoroughly discussed, and it is demonstrated that the chained likelihood ratios method is an inappropriate application of this model due to one reason identified by Leonhard and another reason that has not been previously recognized. Leonhard's conclusions regarding the primary dependence of incremental validity on unconditional correlations and the alleged mathematical incorrectness of the simple Bayes model are refuted. Finally, potential directions for future research and practice in this field are explored and discussed.
PubMed: 37594692
DOI: 10.1007/s11065-023-09604-4 -
Neuropsychology Review Sep 2023The thoughtful commentaries in this volume of Drs. Bush, Jewsbury, and Faust add to the impact of the two reviews in this volume of statistical and methodological issues... (Review)
Review
The thoughtful commentaries in this volume of Drs. Bush, Jewsbury, and Faust add to the impact of the two reviews in this volume of statistical and methodological issues in the forensic neuropsychological determination of malingering based on performance and symptom validity tests (PVTs and SVTs). In his commentary, Dr. Bush raises, among others, the important question of whether such malingering determinations can still be considered as meeting the legal Daubert standard which is the basis for neuropsychological expert testimony. Dr. Jewsbury focuses mostly on statistical issues and agrees with two key points of the statistical review: Positive likelihood chaining is not a mathematically tenable method to combine findings of multiple PVTs and SVTs, and the Simple Bayes method is not applicable to malingering determinations. Dr. Faust adds important narrative texture to the implications for forensic neuropsychological practice and points to a need for research into factors other than malingering that may explain PVT and SVT failures. These commentaries put into even sharper focus the serious questions raised in the reviews about the scientific basis of present practices in the forensic neuropsychological determination of malingering.
PubMed: 37594691
DOI: 10.1007/s11065-023-09606-2 -
Neuropsychology Review Sep 2023Forensic neuropsychological examinations to detect malingering in patients with neurocognitive, physical, and psychological dysfunction have tremendous social, legal,... (Review)
Review
Forensic neuropsychological examinations to detect malingering in patients with neurocognitive, physical, and psychological dysfunction have tremendous social, legal, and economic importance. Thousands of studies have been published to develop and validate methods to forensically detect malingering based largely on approximately 50 validity tests, including embedded and stand-alone performance and symptom validity tests. This is Part II of a two-part review of statistical and methodological issues in the forensic prediction of malingering based on validity tests. The Part I companion paper explored key statistical issues. Part II examines related methodological issues through conceptual analysis, statistical simulations, and reanalysis of findings from prior validity test validation studies. Methodological issues examined include the distinction between analog simulation and forensic studies, the effect of excluding too-close-to-call (TCTC) cases from analyses, the distinction between criterion-related and construct validation studies, and the application of the Revised Quality Assessment of Diagnostic Accuracy Studies tool (QUADAS-2) in all Test of Memory Malingering (TOMM) validation studies published within approximately the first 20 years following its initial publication to assess risk of bias. Findings include that analog studies are commonly confused for forensic validation studies, and that construct validation studies are routinely presented as if they were criterion-reference validation studies. After accounting for the exclusion of TCTC cases, actual classification accuracy was found to be well below claimed levels. QUADAS-2 results revealed that extant TOMM validation studies all had a high risk of bias, with not a single TOMM validation study with low risk of bias. Recommendations include adoption of well-established guidelines from the biomedical diagnostics literature for good quality criterion-referenced validation studies and examination of implications for malingering determination practices. Design of future studies may hinge on the availability of an incontrovertible reference standard of the malingering status of examinees.
PubMed: 37594690
DOI: 10.1007/s11065-023-09602-6 -
Journal of Clinical and Experimental... Feb 2024Although studies have shown unique variance contributions from performance invalidity, it is difficult to interpret the meaning of cognitive data in the setting of...
BACKGROUND
Although studies have shown unique variance contributions from performance invalidity, it is difficult to interpret the meaning of cognitive data in the setting of performance validity test (PVT) failure. The current study aimed to examine cognitive outcomes in this context.
METHOD
Two hundred and twenty-two veterans with a history of mild traumatic brain injury referred for clinical evaluation completed cognitive and performance validity measures. Standardized scores were characterized as Within Normal Limits (≥16 normative percentile) and Below Normal Limits (<16 percentile). Cognitive outcomes are examined across four commonly used PVTs. Self-reported employment and student status were used as indicators of "productivity" to assess potential functional differences related to lower cognitive performance.
RESULTS
Among participants who performed in the invalid range on Test of Memory Malingering trial 1, Word Memory Test, Wechsler Adult Intelligence Scale-Fourth Edition Digit Span aged corrected scaled score, and the California Verbal Learning Test-Second Edition Forced Choice index, 16-88% earned broadly within normal limits scores across cognitive testing. Depending on which PVT measure was applied, the average number of cognitive performances below the 16 percentile ranged from 5 to 7 of 14 tasks. There were no differences in the total number of below normal limits performances on cognitive measures between "productive" and "non-productive" participants (T = 1.65, = 1.00).
CONCLUSIONS
Results of the current study suggest that the range of within normal limits cognitive performance in the context of failed PVTs varies greatly. Importantly, our findings indicate that neurocognitive data may still provide important practical information regarding cognitive abilities, despite poor PVT outcomes. Further, given that rates of below normal limits cognitive performance did not differ among "productivity" groups, results have important implications for functional abilities and recommendations in a clinical setting.
Topics: Humans; Male; Adult; Malingering; Female; Middle Aged; Neuropsychological Tests; Veterans; Brain Concussion; Young Adult; Cognitive Dysfunction; Cognition; Reproducibility of Results
PubMed: 37555316
DOI: 10.1080/13803395.2023.2244161 -
Medical History Apr 2023The fear of the malingering soldier or veteran has existed in Australia since its first nationwide military venture in South Africa. The establishment of the...
The fear of the malingering soldier or veteran has existed in Australia since its first nationwide military venture in South Africa. The establishment of the Repatriation Department in 1917 saw the medical, military and political fields work collectively, to some extent, to support hundreds of thousands of men who returned from their military service wounded or ill. Over the next decades the medical profession occasionally criticised the Repatriation Department's alleged laxness towards soldier recipients of military pensions, particularly those with less visible war-related psychiatric conditions. In 1963 this reached a crescendo when a group of Australian doctors drew battle lines in the correspondence pages of the , accusing the Repatriation Department of directing a 'national scandal', and provoking responses by both the Minister for Repatriation and the Chairman of the War Pensions Assessment Appeal Tribunal. Although this controversy and its aftermath does allow for closer investigation of the inner workings of the Repatriation Department, the words of the doctors themselves about 'phony cronies', 'deadbeats' and 'drongoes' also reveal how the medical fear of the malingering soldier, and particularly the traumatised soldier-malingerer, lingered into the early 1960s and beyond. This paper will analyse the medical conceptualisation of the traumatised soldier in the 1960s in relation to historical conceptions of malingering, the increasingly tenuous position of psychiatry, as well as the socio-medical 'sick role', and will explore possible links with the current soldier and veteran suicide crisis in Australia.
Topics: Male; Humans; Malingering; Military Personnel; Australia; Mental Disorders; Fear
PubMed: 37525458
DOI: 10.1017/mdh.2023.19