ObjectivesWe aimed to (1) understand barriers to quality healthcare and services in the context of rare diseases and (2) identify the multifaceted impacts of these barriers on rare disease patients.MethodsSemi-structured interviews exploring barriers to optimal rare disease care, the impacts of these barriers, empowerment strategies used, and recommendations. The Ten New Rules to Redesign and Improve Care Framework proposed by the Committee on Quality of Health Care in America of the US Institute of Medicine (2001) guided content analysis.ResultsTwelve individuals living with different rare diseases were interviewed. Numerous pertinent barriers were reported. For example, 'care based on continuous healing relationships' (rule 1) is impacted by very long delays in obtaining diagnoses. Patient abandonment and lack of follow-up are also experienced because of the perplexing nature of rare diseases. Regarding 'the patient as the source of control' (rule 3), the rationality of patients is questioned, including claims of malingering and misunderstandings about their unusual experiences. These barriers have multifaceted impacts such as strong negative affect and estrangement from mainstream healthcare.DiscussionThere is a clear and pressing need to improve the quality of care for people living with rare diseases, in alignment with major clinical recommendations.

Traditional symptom validity tests (SVT) are crucial yet costly components of routine evaluations. Embedded overreporting SVT cutoffs in commonly used psychopathology screeners exist, but it is unclear how multiple elevations across these measures impact detection accuracy. This study explored if the convergence of elevations across three embedded SVTs, Beck Depression Inventory-Second Edition, Beck Anxiety Inventory, and Posttraumatic Stress Disorder Checklist for DSM-5, improves invalidity detection accuracy using preselected and sample-derived cutoffs. Individual screeners demonstrated high specificity but low sensitivity, and each screener uniquely predicted validity status. Using conservative/preselected cutoffs, elevating ≥2 embedded SVTs significantly improved specificity to >99% with modest sensitivity (32%), while ≥3 elevations using liberal/sample-derived cutoffs resulted in 98% specificity but an improved sensitivity of 41%. Multiple elevations across embedded SVTs can identify noncredible responding/symptom endorsement on psychopathology screeners, thus signaling that more robust validity testing can be discontinued. However, given the lower sensitivity of this approach, these embedded SVTs may better rule in rather than rule out noncredible responding when elevated.

Professor Gordon Waddell first described a group of eight clinical physical signs in 1980 known as Waddell signs.[1] As an orthopedic surgeon, Waddell initially developed these signs as a method to identify patients with low back pain who were likely to experience a poor surgical outcome from lower back surgery. More recently, clinicians have utilized Waddell signs to detect psychogenic, sometimes inappropriately labeled “non-organic,” manifestations of low back pain in patients. This practice has expanded to identify malingering in patients, such as discrediting the legitimacy of motor vehicle accident claims as well as identifying psychogenic components in other non-lumbar pain syndromes. In 1998, Main and Waddell stated that these physical signs have been misinterpreted and misused both clinically and medico-legally.[2] In their article, they emphasize the importance of viewing back pain within a psychosocial context. They state that behavioral signs may be a response affected by fear from injury and development of chronic incapacity, and are not a test of credibility. They conclude that patients displaying Waddell signs may require both physical management of their physical pathology as well as careful therapy for the psychosocial and behavioral aspects of their illness.

Visual evoked potential (VEP) can objectively reflect the conductive function of the visual pathway, so it is considered as one of the core technologies for objective evaluation of visual function impairment in forensic clinical identification. However, when such visual electrophysiological devices are transferred from clinical medical scenarios to forensic identification scenarios, they still face common issues such as malingering and exaggeration of visual function impairment. This paper systematically reviews the current application status and translational needs of visual electrophysiological devices in forensic clinical practice and presents the development of a virtual reality-pattern visual evoked potential (VR-PVEP) instrument. By integrating virtual reality technology with VEP technology and adopting a binocular simultaneous but asynchronous stimulation mode, the device can identify and prevent visual malingering interference. This article further describes the pathway of technical innovation based on practical requirements in forensic clinical identification. It is proposed that problem-oriented approach, collaborative innovation and standard formulation are the keys to promoting the successful transfer of visual electrophysiological devices, such as VEP systems, from "clinical diagnosis and treatment" to "forensic identification" scenarios, thereby providing more scientific and reliable technical support for forensic clinical visual function impairment identification.

Two studies are presented involving simulator designs to investigate the utility of reaction time (RT) indices from the first two trials of the computerized TOMM 2. A sample of largely mild traumatic brain injuries (TBI) was compared to simulators whose correct responding was below the traditional passing score of 45/50 but not significantly below chance. In Study 1, 47 healthy participants were presented a scenario in which they were given the opportunity to malinger for financial compensation; a procedure that more closely parallels real-world settings where individuals are incentivized to malinger but are not explicitly instructed to do so. Reaction time indices for those who chose to simulate were compared to 30 individuals who experienced a diagnosed TBI. Both the Coefficient of Variation (CoV) of RT and the standard deviation of RT for Trial 2 differentiated simulators from those with TBIs. In Study 2, 69 individuals were explicitly instructed to feign in a more traditional simulator design and compared on the TOMM 2 reaction time indices. The findings from Study 1 were replicated, showing both standard deviation and CoV of RT in Trial 2 differentiated between TBIs and simulators, and the effect size for the CoV of RT was larger. Classification statistics were maximized using a base rate of 40%. The present findings provide preliminary evidence for the utility of the TOMM 2 reaction time measures in detecting subnormal performance, especially when respondents score below the typical passing score of 45, but do not score significantly below chance on the performance validity test.

Functional cognitive disorder (FCD) is a frequent and underrecognized cause of cognitive complaints. Long regarded as a diagnosis of exclusion, conceptual advances have allowed this condition to be integrated within the nosological framework of functional neurological disorders, and to be approached through a positive definition based on the identification of internal inconsistency signs. Nevertheless, establishing a diagnosis of FCD can prove challenging in clinical practice, particularly due to overlapping features with the main differential diagnoses. Through the illustration of a typical clinical case, this article aims to support the positive diagnostic criteria for FCD, and to highlight the key arguments allowing FCD to be distinguished from its main differential diagnoses: cognitive symptoms related to depressive disorder, neurodegenerative diseases at the prodromal stage, and malingering. Diagnosing FCD requires a comprehensive patient evaluation, integrating a qualitative analysis of the interview and the patient's conversational profile alongside the assessment of symptoms, physical examination, and neuropsychological testing.

Objective: The aggregation of multiple performance validity tests (PVTs) into a summary validity determination is an established challenge in neuropsychology. The standard dichotomous accumulation approach relies upon binary recoding of continuous PVT scores and yields ambiguous outcomes in a sizable proportion of cases. This study evaluated Bayesian logistic regression as a framework for estimating the posterior probability of an invalid profile from continuous embedded PVT scores. Method: A retrospective sample of 233 military veterans was classified into Valid (n = 132), Ambiguous (n = 55), and Invalid (n = 46) groups based on three standalone PVTs. A Bayesian logistic regression model was trained on the Valid and Invalid groups using six embedded PVTs as continuous standardized predictors. The Ambiguous group was withheld from training and subsequently evaluated using model-derived posterior probability estimates. Results: The full six-predictor model yielded the highest posterior probability. PVTs varied in inclusion evidence. Probability distributions were consistently low in the Valid group, consistently high in the Invalid group, and markedly heterogeneous in the Ambiguous group. Conclusions: Bayesian logistic regression provides a viable framework for probabilistic PVT aggregation that preserves continuous score information, accounts for intercorrelation among predictors, and models genuine uncertainty when present. Validation in more diverse samples using sophisticated outcome measures is needed.

Nonorganic vision loss (NOVL), also known as functional, psychogenic, or hysterical vision loss, is a unique subset of visual impairment characterized by a disparity between the patient's self-reported visual symptoms and clinical findings. NOVL represents a broad spectrum of conditions where an individual presents with visual dysfunction that any identifiable organic pathology cannot fully explain. The understanding of NOVL is intrinsically connected to the knowledge of the visual pathway, a complex network comprising the ocular structures (cornea, crystalline lens, and retina), the optic nerves, chiasm, and tracts, the lateral geniculate bodies of the thalamus, and the visual cortex of the occipital lobe. A detailed clinical assessment of this pathway is crucial to exclude organic causes of vision loss, such as ocular diseases, neurological conditions, or systemic diseases. NOVL is not always a case of malingering or conscious feigning of symptoms and usually occurs without the patient's awareness of the nonorganic nature of the disease. The natural history and pattern of the spread of NOVL vary among individuals. NOVL may affect visual acuity, visual fields, or color vision and may present in various patterns, from monocular to binocular involvement. Some individuals may experience sudden vision loss, while others report a progressive decline. NOVL can profoundly affect the quality of life and activities of daily living, highlighting the need for prompt recognition and appropriate management.  Understanding the etiology and pathophysiology of NOVL requires a biopsychosocial approach that acknowledges the interaction of physiological, psychological, and social contributing factors. The early identification of NOVL and appropriate intervention can significantly improve patient outcomes and mitigate the impact on healthcare resources. NOVL may be the only sign of psychological distress, and questions during the eye exam regarding suicidal ideation may save lives.  Healthcare providers should recognize that when an organic etiology for vision loss has been ruled out, malingering is usually correlated with avoidance of extensive investigation, while people unconsciously suffering from NOVL, as well as those with factitious disorder, will actively seek out additional investigations to determine the cause of the vision loss. NOVL remains an underrecognized and underresearched area in ophthalmology. This activity reviews the current understanding of NOVL, its various manifestations, and approaches to evaluation and management to equip healthcare professionals with the knowledge and tools necessary to address this complex condition.

Forensic psychiatry lacks objective biological markers and relies on clinical methodologies inherently influenced by the evaluator's cultural background and cognitive biases. This case study, spanning 30 years of clinical and forensic assessments, highlights the challenges associated with achieving diagnostic consistency and objectivity in expert opinions. A 63-year-old man, first detained at 19 for attempted robbery and homicide, underwent multiple forensic psychiatric evaluations from 1989 to 2025. Initial assessments consistently found him not guilty by reason of insanity due to a schizophrenic disorder associated with mild intellectual disability. Recurrent diagnoses included schizophrenic syndrome, paranoid schizophrenia and delusional disorder. Expert reports for the defense and court-appointed evaluations supported this view. In 2022, significant discrepancies emerged: a collegial panel concluded that the subject was partially criminally responsible, while the Public Prosecutor's consultant proposed a dissociative disorder characterized by exaggerated symptoms, judging the subject fully criminally responsible; in contrast, the defense reaffirmed the opinion of not guilty by reason of insanity. In 2023, a new expert opinion found full criminal responsibility suggesting malingering. A further evaluation is currently ongoing (as of 2025). Over the years, a wide range of professionals applied differing methodologies with psychometric and neuroscientific tools introduced only in the most recent phase. This case illustrates how, lacking shared standards, forensic psychiatric assessments may remain vulnerable to methodological variability and individual bias. Divergent conclusions on criminal responsibility suggest standardized and multidisciplinary approaches could improve reliability and scientific rigor in forensic evaluations. However, these findings remain exploratory given the single-case nature of the report.