RESUMEN

Objectives: Wilson disease (WD) is a rare autosomal recessive disorder caused by a mutation in the ATP7B gene. Neurological symptoms are one of the most common symptoms of WD. This study aims to construct a model that can predict the occurrence of neurological symptoms by combining clinical multidimensional indicators with machine learning methods. Methods: The study population consisted of WD patients who received treatment at the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine from July 2021 to September 2023 and had a Leipzig score ≥ 4 points. Indicators such as general clinical information, imaging, blood and urine tests, and clinical scale measurements were collected from patients, and machine learning methods were employed to construct a prediction model for neurological symptoms. Additionally, the SHAP method was utilized to analyze clinical information to determine which indicators are associated with neurological symptoms. Results: In this study, 185 patients with WD (of whom 163 had neurological symptoms) were analyzed. It was found that using the eXtreme Gradient Boosting (XGB) to predict achieved good performance, with an MCC value of 0.556, ACC value of 0.929, AUROC value of 0.835, and AUPRC value of 0.975. Brainstem damage, blood creatinine (Cr), age, indirect bilirubin (IBIL), and ceruloplasmin (CP) were the top five important predictors. Meanwhile, the presence of brainstem damage and the higher the values of Cr, Age, and IBIL, the more likely neurological symptoms were to occur, while the lower the CP value, the more likely neurological symptoms were to occur. Conclusions: To sum up, the prediction model constructed using machine learning methods to predict WD cirrhosis has high accuracy. The most important indicators in the prediction model were brainstem damage, Cr, age, IBIL, and CP. It provides assistance for clinical decision-making.

RESUMEN

Functional neurological symptom disorder (FND), previously known as conversion disorder, is a condition identified by neurological symptoms that cannot be explained by neurological disease or other medical conditions. FND typically presents with speech disturbances, visual disturbances, paralysis, somatic symptoms like myalgia, and chronic fatigue. This case report describes a case of a 44-year-old female, who presented with dysmenorrhea and had undergone total abdominal hysterectomy with bilateral salpingectomy and manifested as head titubation which was a conversion reaction. On evaluation, it was revealed that the patient had chronic depression and pain. This case report highlights a rare presentation of FND.

RESUMEN

Functional neurological symptom disorder (FNSD) is a complex condition with multifactorial etiology in which psychological factors may play a significant role in some patients, and they are not universally present or necessary for the diagnosis. FNSD can occur in the absence of psychological distress and each patient's presentation should be evaluated individually, considering a wide range of potential contributing factors. This is the first report related to prevalence data from Rwanda. This report presents a case study of a 15-year-old female patient who presented hemibody weakness without a structural neurological explanation on the background of the direct exposure to parental conflict. she was ultimately diagnosed with an FNSD and responded effectively to five sessions of cognitive behavioral therapy. Additionally, follow-up appointments were conducted every 4 months over the course of 1 year. During this period, the patient successfully resumed her studies and demonstrated normal functioning in all essential areas of daily life. This is the first reported case in Rwanda among similar cases. Addressing these specific stressors played a crucial role in the patient's overall outcome, leading to improved quality of care and prevention of unnecessary medical costs and interventions.

RESUMEN

Introduction: Unexplained physical signs and symptoms represent a significant portion of patient presentations in acute care settings. Even in cases where a patient presents with a known medical condition, functional or somatic symptoms may complicate the diagnostic and treatment processes and prognostic outcome. One umbrella category for neurologically related somatic symptoms, functional neurological disorder (FND), presents as involuntary neurological symptoms incompatible with another medical condition. Symptoms may include weakness and/or paralysis, movement disorders, non-epileptic seizures, speech or visual impairment, swallowing difficulty, sensory disturbances, or cognitive symptoms (1). While FND presents as neuropsychiatric, providers commonly report feeling hesitant to diagnose these disorders. Inexperience or lack of appropriate education on relevant research regarding evidence-based practices or standard of practice (SOP) may result in over- or underperforming diagnostic workups and consultations, utilizing inappropriate medications, and failing to offer evidence-based psychological interventions. Being mindful of these challenges when treating patients presenting with functional symptoms in acute care settings can help to support and protect the patients and care team and appropriately control healthcare costs. Methods: The University of Alabama at Birmingham Medical Center identified cases representing categories of quality and safety problems that arise in treating FND in acute care settings. Patients signed a consent form to participate in the case report. The case information for each was presented without identifying information. Discussion: The cases highlight potential challenges when caring for patients presenting with FND in acute care settings. The challenges covered include over- or underutilization of diagnostic workups and consultation, over- or underutilization of psychopharmacological medications, and over- or undertreating a medical condition when a functional symptom is present. In each case, these lapses and errors caused the patient distress, additional treatments, care delays, and delayed symptom remission. Additionally, these challenges have direct and indirect fiscal costs, which can be mitigated with the appropriate education and training, resources, and protocols. Hospitals can benefit from system-wide SOP to improve the identification and management of FND to prevent harm to patients. An SOP commonly presents to specific specialties and ensures the appropriate diagnostic workup, consultations, and timely evidence-based interventions.

RESUMEN

Conversion disorder-called functional neurological symptom disorder in the DSM-5-has roots that trace back to antiquity. The term conversion, originating from psychoanalysis, signifies the appearance of physical symptoms as an effort to resolve or convey unconscious and distressing intrapsychic conflicts- "converting" them from manifesting in the mind to manifesting in the body. Despite efforts made in elucidating the neurobiological etiologies of functional neurological symptom disorder, a psychodynamic lens remains indispensable in understanding the patient. This article presents two patients who developed functional neurological symptom disorder, one after a COVID-19 vaccination and one in the context of long COVID. A discussion follows on the intrapersonal, interpersonal, and systemic etiological factors that predispose, precipitate, and perpetuate COVID-related functional neurological symptom disorder. We elaborate on psychodynamic psychological processes and conflicts that may unfold between patients with COVID-related functional neurological symptom disorder and their health care providers. We also share suggestions on how a consultation-liaison psychiatry team may offer support to the primary treating team to facilitate a therapeutic space within which patients with COVID-related functional neurological symptom disorder may recover.

Asunto(s)

RESUMEN

Dissociative neurological symptoms disorder (DNSD), or conversion disorder, frequently manifests with unexplained neurological symptoms, necessitating referral to psychiatry following preliminary diagnosis in neurology. We present a case of an adolescent female patient with gait disturbance as the predominant clinical presentation, and delve into the diagnosis and interdisciplinary intervention process. Given neuroimaging deviations detected and familial similar presentations, the organic etiology was confirmed. However, the aberrant gait remained unexplained ultimately prompting psychiatric consultation resulting in the diagnosis of DNSD. Interventions consisting of health education, suggestive therapy, and physiotherapy notably improved gait disturbance. However, at follow-up, the patient presented with a depressive episode. It was deduced that undiagnosed psychosocial factors, notably familial dynamics, likely contributed to this decline. Eventually, transformed relation patterns among family members as well as antidepressant treatment were instrumental in attaining symptom remission.

RESUMEN

The past decade has witnessed amplified public awareness of age-related dementias. This has resulted in a dramatic rise in the number of older persons referred to memory clinics with a primary complaint of self-reported memory loss without an antecedent neurological event (e.g., stroke) who produce neuropsychological test profiles that lack evidence of such impairment. Since the latter part of the 19th century, a confusing array of changing terminology, criteria, and perceived causation have been ascribed to patients with unverified medical symptoms to implicate psychological causation. Such terms are often misperceived by laypersons as reflecting character flaws or malingering. Of import for clinical neuropsychologists, the 11th edition of the International Classification of Diseases added cognitive to symptoms eligible for a diagnosis of the modern formulation, dissociative neurological symptom disorder. One dissociative option for referrals with self-reported neurocognitive symptoms not validated on neuropsychological testing is functional memory disorder, conceived as a psychological disorder where emotional distress is plausibly related to the perceived memory loss but is of less severity than would warrant a major depressive or anxiety diagnosis. If evidence of psychological distress or behavioral impairment is not present the referral likely reflects the increased public awareness of age-related dementias interacting with the high base rate of self-perceived memory loss in the general population. In such cases, a dissociative diagnosis should be avoided as there is evidence of neither a medical nor a psychological disorder. A summary statement of not dementia or similar is likely sufficient to help the patient.

RESUMEN

Functional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features. However, our focus is on a critical learning point illustrated by the case of a 14-year-old male initially diagnosed with FNSD, but subsequently found to have a rare primary monogenic movement disorder (paroxysmal kinesigenic dyskinesia, PKD). The crucial takeaway from this case is the importance of avoiding an FNSD diagnosis based solely on psychiatric comorbidity and suppressible symptoms. Instead, clinicians should diligently assess for specific features indicative of FNSD, which were absent in this case. This emphasizes the importance of making a diagnosis of inclusion. Extended follow-up and clinical-oriented genetic testing might help identify comorbidities, prevent misdiagnosis, and guide interventions in complex cases, which cannot be simply classified as "functional" solely because other conditions can be excluded.

Understanding and Avoiding Mistakes in Diagnosing Children with Functional Neurological Symptom Disorders: A Review and Case Report: This article discusses Functional Neurological Symptom Disorders (FNSDs), focusing on misdiagnosis, differential diagnosis, and other diagnostic challenges, particularly in pediatric cases. FNSDs involve motor or sensory symptoms that are inconsistent over time and unexplained by neurological disease, often associated with psychosocial factors. The article highlights the complexity of distinguishing FNSDs from other neurological and psychiatric conditions, emphasizing the importance of careful evaluation. The authors review various conditions that can mimic FNSDs, such as epileptic seizures, syncope, and different motor disorders. They emphasize the need to consider psychiatric conditions in the differential diagnosis, including factitious disorders, and malingering. The article presents a case study of a 14-year-old with involuntary movements, initially diagnosed as having a Functional Movement Disorder. After careful evaluation, the patient was diagnosed with a genetic dystonia (PRRT2 mutation). The case shows the importance of not rely solely on psychological problems, bizarre presentations or suppressible symptoms when diagnosing FNSDs.

Asunto(s)

RESUMEN

OBJECTIVE: Many clinicians are unfamiliar with a diagnosis of lacertus syndrome (LS). We investigated the value of the lacertus notch sign in diagnosing LS. METHODS: We included 56 consecutive patients (112 upper extremities) who had neuropathic pain and neurological symptoms of the hand. The presence of LS and the lacertus notch sign in each upper extremity was assessed. RESULTS: Of the 83 upper extremities with LS, 54 (65.1%) had a lacertus notch sign, whereas 29 (34.9%) did not. Of the 29 upper extremities without LS, 9 (31.0%) and 20 (69.0%) had and did not have a lacertus notch sign, respectively. The rates of lacertus notch presence in upper extremities with and without LS were significantly different. Of the 63 upper extremities with a lacertus notch sign, 54 (85.7%) were diagnosed with LS, whereas 9 (14.3%) were not. Of the 49 upper extremities without a lacertus notch sign, 20 (40.8%) were diagnosed with LS, and 29 (59.2%) were not. We observed significant differences in the rates of LS in upper extremities with and without lacertus notch. CONCLUSIONS: The presence of the lacertus notch sign is useful for diagnosing LS. When patients with neuropathic pain and neurological symptoms present with a lacertus notch sign, clinicians should consider the possibility of LS.

RESUMEN

Functional seizures (FS) can be debilitating and negatively impact quality of life. Yet intervention research for FS is limited, especially for youth. This study examined clinical characteristics and outcomes of youth with FS (13-23 years) presenting to a pediatric intensive interdisciplinary pain treatment (IIPT) program in the midwestern United States. Sixty youth (mean age = 16.5 years; 83.3 % female) met inclusion criteria. At intake, comorbid chronic pain, somatic symptoms, autonomic dysfunction, eating and weight disturbances, and mental health concerns were common. Despite this high symptom burden, youth with FS reported significant improvements in functioning measured with the Functional Disability Inventory, t(53) = 9.80, p <.001, d = 1.32; depression measured with the Center for Epidemiological Studies - Depression Scale for Children, t(53) = 6.76, p <.001, d = 0.91; anxiety measured with the Spence Children's Anxiety Scale, t(53) = 3.97, p < .001, d = 0.53; and catastrophizing measured with the Pain Catastrophizing Scale for Children, t(53) = 6.44, p <.001, d = 0.86, following completion of the program, suggesting that IIPT may be an effective treatment option for highly disabled and emotionally distressed youth with FS. Future research is needed to continue to refine best practices for youth with FS to reduce suffering and improve outcomes.

Asunto(s)

RESUMEN

BACKGROUND: New-onset neurological symptoms such as numbness and pain in lower extremities might appear immediately after conventional lumbar interbody fusion (LIF) surgery performed in patients with lumbar spinal stenosis. METHODS AND ANALYSIS: This is a multicenter, randomized, open-label, parallel-group, active-controlled trial investigating the clinical outcomes of modified LIF sequence versus conventional LIF sequence in treating patients with lumbar spinal stenosis. A total of 254 eligible patients will be enrolled and randomized in a 1:1 ratio to either modified LIF sequence or conventional LIF sequence group. The primary outcome measure is the perioperative incidence of new-onset lower extremity neurological symptoms, including new adverse events of pain, numbness, and foot drop of any severity. Important secondary endpoints include visual analogue scale (VAS) pain score and lumbar Japanese Orthopaedic Association (JOA) recovery rate. Other safety endpoints will also be evaluated. The safety set used for safety data analysis by the actual surgical treatment received and the full analysis set for baseline and efficacy data analyses according to the intent-to-treat principle will be established as the two analysis populations in the study. CONCLUSION: This study is designed to investigate the clinical outcomes of modified LIF sequences in patients with lumbar spinal stenosis. It aims to provide clinical evidence that the modified "fixation-fusion" sequence of LIF surgery is effective in treating lumbar spinal stenosis. TRIAL REGISTRATION: http://www.chictr.org.cn/index.aspx ID: ChiCTR2100048507.

Asunto(s)

RESUMEN

INTRODUCTION: Functional neurological symptom disorder (FNSD) is a common diagnosis among adolescents. However, we feel it is a difficult diagnosis to assess because of the diversity of its clinical manifestations, the rapid changes in its nosography over the years, and its common imbrication with established somatic diagnoses. We would like to illustrate this hypothesis through a case presentation and the original diagnostic process that emerged from it. METHODS: We chose to present our diagnosis approach through the case of an 11-year-old boy who showed a progressive loss of motor and sensory function to the point of total dependency, and then suddenly switched between this state and a "normal" physical presentation, while deliriously claiming to be an angel. RESULTS: All possible infectious, autoimmune, metabolic, and toxic disorders were ruled out. After the successive therapeutic failures of antidepressants and neuroleptics, FNSD was diagnosed. CONCLUSION: The DSM-5-TR classification was insufficient to explain the full clinical picture and a complementary approach (biblical, psychoanalytical, and historical) was used to analyze the cause of this atypical presentation.

RESUMEN

BACKGROUND: Thirty-two-day-old broiler chickens at a farm located in northwestern South Korea displayed adverse neurological symptoms including limping, lying down, and head shaking. Approximately 2.1% of chickens died or were culled due to severe symptoms. Five carcasses were submitted to the Avian Disease Division of the Animal and Plant Quarantine Agency (APQA) for disease diagnosis. RESULTS: Broilers displayed severe pericarditis and perihepatitis associated with gross lesions. Broilers also displayed microscopic lesions in the cerebrum and in the granular layer of the cerebellum, which were associated with multifocal perivascular cuffing and purulent necrosis in the cerebrum, and severe meningitis with heterophil and lymphocyte infiltration. Staphylococcus spp. were identified in the liver and heart using bacteriological culture. PCR/RT-PCR assays revealed that broilers were negative for avian Clostridium botulinum, Newcastle disease virus, and avian encephalomyelitis virus. Bacterial and viral metagenomic analysis of brain sample further revealed the presence of Pseudomonas spp. and Marek's disease virus, which are known etiological agents of chicken meningoencephalitis. CONCLUSIONS: This study reports a diagnostic analysis of gross and histopathological lesions from 32-day-old broilers displaying unique neurological symptoms that revealed the presence of the several neurological diseases including meningoencephalitis. The causative agents associated with meningoencephalitis of broilers that had not been identified by routine diagnostic methods could be diagnosed by metagenomics, which proves the usefulness of metagenomics as a diagnostic tool for unknown neurological diseases in broilers.

Asunto(s)

RESUMEN

Owing to the dearth of scholarly works to understand the presence of Functional Neurological Symptom Disorder (FNSD) among mental health patients in Pakistan, this study sought to understand how cultural and religious conflicts are implicated in the aetiology of FNSD. The study recruited 22 participants, comprising five men and 17 women. The participants were recruited from the Department of Psychiatry at Services Hospital, Lahore, Pakistan. Semi-structured interviews were conducted and analyzed through Thematic Analysis. The two main themes identified in this study were cultural and religious values and beliefs about romantic relationships. Within the cultural and religious values theme, subthemes of self-perception, a conviction in religious beliefs, and sexual suppression were identified. Furthermore, the subthemes of beliefs about romantic relationships were family's approval, engagement against wishes, and fear of exposure. The two main themes are interconnected: beliefs about romantic relationships were interpreted and experienced through the perspective of religion and culture. To summarize, this study concluded that stressors related to culture and religion are significant contributing factors in the development of FNSD. This study has important implications for mental health professionals, as awareness around the interplay of cultural as well as religious beliefs and FNSD will enable them to devise effective and holistic therapeutic intervention.

RESUMEN

Functional neurological symptom disorder (FNSD) or functional neurological disorder (FND) or conversion disorder, is a syndrome of neurological complications unexplained by neuropathology. The term FNSD or FND is now preferred, as conversion disorder is not an etiologically neutral term and is thus falling from use by researchers and clinicians in the field. We report a case of new-onset postoperative neurological deficit in a patient who had undergone uneventful general anesthesia for a urology procedure. Postoperatively, in the post-anesthesia care unit, the patient was found to be unable to move her upper and lower limbs. Organic pathology was excluded and a diagnosis of FNSD was made. Four weeks after the surgery, the patient was only able to ambulate with the help of a mechanical walker device. It is now suggested that procedures involving anesthesia are relatively common triggers for the development of FNSD. The occurrence of FNSD in the postoperative period is increasingly being attributed to the effects of anesthesia, the hypothesis being that it arises from the abreactive or dissociative effects of anesthetic agents. Another theory is the vulnerability of the anesthetized state which may evoke previous traumatic experiences. Psychiatric co-morbidities such as anxiety and depression may be seen in these patients. Preoperative psychological assessment may help identify patients at risk for FNSD. If postoperative neurological deficit occurs, detailed neurological, metabolic, and psychiatric assessments should be done with FNSD being a diagnosis of exclusion. We present this case to increase awareness regarding this uncommon condition which can cause significant distress to the patient and healthcare team. Management should comprise honest disclosure, reassurance of recovery, and reinforcement of alternative coping strategies. The development of preoperative screening tools may help identify patients at risk for this disorder.

RESUMEN

OBJECTIVE: Ictal injuries have long been considered typical signs of epileptic seizures. However, studies have shown that patients with functional seizures (FS)-also named psychogenic nonepileptic seizures-can also present these signs, misleading physicians and delaying a correct diagnosis. This systematic review aimed to assess the prevalence of injuries from FS. METHODS: A literature search was performed in PubMed, Embase, LILACS (Latin American and Caribbean Health Sciences Literature), Scopus, Web of Science, PsycINFO, Google Scholar, OpenGrey, and ProQuest. Observational studies were included. The risk of bias was assessed using the Joanna Briggs Institute (JBI) checklist for studies reporting prevalence data. RStudio was used for meta-analyses. Cumulative evidence was evaluated according to Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) criteria. RESULTS: From the 2607 identified records, 41 studies were included in the qualitative synthesis, and 28 were included in meta-analyses. A meta-analysis of 13 studies, including 1673 individuals, resulted in an overall lifetime prevalence of injuries due to FS per person of 25% (95% confidence interval [CI] = 19%-32%, I2 = 88%). Considering a limited period (video-electroencephalographic [VEEG] monitoring days), a meta-analysis of 13 studies, including 848 individuals, resulted in an injury prevalence due to FS per person of .7% (95% CI = 0%-3%, I2 = 73%). Also, a meta-analysis of eight studies, including 1000 individuals, resulted in a prevalence of injuries per FS of .1% (95% CI = 0%-.98%, I2 = 49%). The certainty in cumulative evidence assessed by GRADE was rated "very low" for lifetime prevalence of injuries per person, "low" for prevalence per person during VEEG monitoring, and "moderate" for prevalence per number of FS. SIGNIFICANCE: Overall pooled lifetime prevalence of injuries due to FS per person was 25%. In comparison, the prevalence of injuries per person during VEEG monitoring and per functional seizure was .7% and .1%, respectively. [Correction added on 07 October 2023, after first online publication: In the preceding sentence, 'consecutively' was corrected to 'respectively'.] The evidence of the occurrence of injuries due to FS breaks the paradigm that epileptic seizures can cause injuries but FS cannot.

Asunto(s)

RESUMEN

BACKGROUND: Although emerging evidence suggests that PM2.5 is linked to neurological symptoms (NSs) via neuroinflammation, relevant studies are scarce. This study aimed to investigate the risks and excess costs of hospital admission for five NSs-fatigue, headache, dizziness, convulsion, and paralysis-attributable to long-term exposure to PM2.5 in New York State, USA. METHODS: We analyzed the New York Statewide Planning and Research Cooperative System (SPARCS) from 2010 to 2016. A Bayesian hierarchical model with integrated nested Laplace approximations was performed to estimate the risks and excess costs of hospital admission for NSs due to long-term exposure to PM2.5 at the county level. RESULTS: A 1 µg/m3 increase in lag 0-1 years PM2.5 was associated with an increased risk of headache and convulsion by 1.06 (1.01, 1.11) and 1.04 (1.01, 1.06), respectively. The excess hospital admission cost for five NSs attributable to lag 0-1 years PM2.5 above the new World Health Organization guideline (annual standard: 5 µg/m3) was $200.24 (95% CI: 6.00, 376.96) million during 2011-2016, recording the highest for convulsion ($153.73 [95% CI: 63.61, 244.19] million). CONCLUSIONS: This study provides quantitative estimates of risks and excess costs for NSs attributable to long-term PM2.5 and suggests that policies that reduce long-term PM2.5 concentration in accordance with the new WHO air quality guidelines can yield substantial health and economic benefits related to NSs in the New York State population.

Asunto(s)

RESUMEN

OBJECTIVE: Patients with functional neurological symptom disorder (FNSD) report high rates of traumatization and have high levels of posttraumatic stress disorder (PTSD) symptoms. Psychotherapy is a mainstay of treatment for persons with FNSD. In this study, the investigators explored changes in PTSD symptoms and health-related quality of life after psychotherapy among persons with FNSD and examined factors contributing to these changes. METHODS: Data were prospectively collected for patients with FNSD attending a specialist outpatient psychotherapy service in the United Kingdom (N=210) as part of an ongoing routine service evaluation. Pre- and posttherapy questionnaires included self-report measures of PTSD symptoms (Posttraumatic Stress Disorder Checklist-Civilian version), depressive symptoms (Patient Health Questionnaire-9), anxiety symptoms (General Anxiety Disorder-7 scale), somatic symptoms (Patient Health Questionnaire-15), health-related quality of life (Short-Form Health Survey-36), and social functioning (Work and Social Adjustment Scale). Independent contributions to psychotherapy-related changes in PTSD symptoms and health-related quality of life were explored through multivariate analyses. RESULTS: All outcome measures revealed improvements after psychotherapy (p<0.001). Psychotherapy-related changes in depression and somatic symptoms and employment status at baseline explained 51% of the variance in PTSD symptom changes. Changes in PTSD symptoms, depressive symptoms, and somatic symptoms made independent contributions to improvements in health-related quality of life (R2=0.54). Improvements were unrelated to FNSD subtype (dissociative seizures or other FNSD), age, marital status, or number of sessions attended. CONCLUSIONS: Reductions in self-reported PTSD, depressive, anxiety, and somatic symptoms, as well as improved health-related quality of life, were observed among patients who received one or more sessions of psychotherapy. Randomized controlled trials of psychotherapy for patients with FNSD are warranted.

Asunto(s)

RESUMEN

Objective: Autoimmune autonomic ganglionopathy (AAG) is a rare disorder characterized by autonomic failure associated with the presence of anti-ganglionic acetylcholine receptor (gAChR) antibodies; however, several studies have reported that individuals with anti-gAChR antibodies present with central nervous system (CNS) symptoms such as impaired consciousness and seizures. In the present study, we investigated whether the presence of serum anti-gAChR antibodies correlated with autonomic symptoms in patients with functional neurological symptom disorder/conversion disorder (FNSD/CD). Methods: Clinical data were collected for 59 patients presenting with neurologically unexplained motor and sensory symptoms at the Department of Neurology and Geriatrics between January 2013 and October 2017 and who were ultimately diagnosed with FNSD/CD according to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition. Correlations between serum anti-gAChR antibodies and clinical symptoms and laboratory data were analyzed. Data analysis was conducted in 2021. Results: Of the 59 patients with FNSD/CD, 52 (88.1%) exhibited autonomic disturbances and 16 (27.1%) were positive for serum anti-gAChR antibodies. Cardiovascular autonomic dysfunction, including orthostatic hypotension, was significantly more prevalent (75.0 vs. 34.9%, P = 0.008), whereas involuntary movements were significantly less prevalent (31.3 vs. 69.8%, P = 0.007), among anti-gAChR antibody-positive compared with -negative patients. Anti-gAChR antibody serostatus did not correlate significantly with the frequency of other autonomic, sensory, or motor symptoms analyzed. Conclusions: An autoimmune mechanism mediated by anti-gAChR antibodies may be involved in disease etiology in a subgroup of FNSD/CD patients.

RESUMEN

INTRODUCTION: Patients with functional neurological disorders (FND) present with weakness, sensory or movement disorder without corresponding brain pathology. The current classificatory systems suggest an inclusionary approach to diagnose FND. Hence, there is a need to systematically evaluate the diagnostic accuracy of clinical signs and electrophysiological investigations in view of the lack of gold standard tests to diagnose FND. METHODS: PubMed and SCOPUS databases were searched for studies published from Jan 1950 to Jan 2022 which reported the diagnostic accuracy of clinical signs and electrophysiological investigations in patients with FND. The Newcastle Ottawa scale was used to assess the quality of the studies. RESULTS: Twenty-one studies (727 cases and 932 controls), of which 16 reported clinical signs and, five reported electrophysiological investigations, were included in the review. Two studies were of good quality, 17 of moderate quality, and two of poor quality. We identified 46 clinical signs (24 in weakness, 3 in sensory, and 19 in movement disorders) and 17 investigations (all in movement disorders). Specificity values for signs and investigations were comparatively high compared to the wide variance in sensitivity values. CONCLUSION: Electrophysiological investigations appear to have a promising role in diagnosing FND, particularly functional movement disorders. The combined use of individual clinical signs and electrophysiological investigations may support and improve diagnostic certainty of FND. Future research can focus on improving the methodology and validating the existing clinical signs and electrophysiological investigations to enhance the validity of the composite diagnostic criterias for FND diagnosis.

Asunto(s)