Primary Psychiatric Disorders Research Articles

Diagnostic Transitions from Primary Psychiatric Disorders to Underlying Medical Conditions: A 5-Year Retrospective Survey from a University Hospital Sample.

Undiagnosed underlying medical conditions can cause many patients to be followed, for years, by a diagnosis of a primary psychiatric disorder and to receive inappropriate treatment. The aim of this study was to determine the prevalence of patients initially diagnosed with a primary psychiatric disorder but whose symptoms were later attributed to medical conditions. These patients' initial and final diagnoses were also examined. The records of 1843 patients hospitalized in Gazi University Faculty of Medicine Psychiatric Inpatient Clinic between 2015 and 2020 were examined in this retrospective and descriptive study. Thirteen patients were excluded from the study due to insufficient data. Descriptive statistics were performed on the data of 30 patients diagnosed with an underlying medical condition. In follow-up, 49 patients' diagnoses changed. 19 patients had a diagnosis unrelated to an underlying medical condition, and 30 had a diagnosis related to an underlying medical condition. Five (16.7%) of the patients, previously known to have psychiatric disorders, were found to have Alzheimer's disease. Brain space-occupying lesions, frontotemporal dementia, epilepsy, Parkinson's disease, and Arnold-Chiari malformation followed Alzheimer's disease at 6.7% (n = 2). The mean time until the diagnosis of the patients was revised was 4.95 years (standard deviation [SD] = 7.78). It was observed that psychotropic medications (90%) were used more than non-psychotropic drugs until the diagnosis was revised. During the diagnostic process, we believe that clinicians should be aware of potential underlying medical conditions and that the multidisciplinary work of psychiatry and neurology is also crucial.

Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal.

Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls. Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference ranges. Plasma NfL was significantly elevated in 11 patients with NPC compared to 25 controls (mean 17.1 vs. 7.4 pg/ml, p < 0.001), and reference ranges (all >98th percentile). NfL distinguished NPC from controls with high accuracy. GFAP levels were not elevated in NPC (66.6 vs. 75.1 pg/ml). The study adds important evidence on the potential diagnostic utility of plasma NfL in NPC, extends the literature of NfL as a diagnostic tool to differentiate neurodegenerative from primary psychiatric disorders, and adds support to the pathology in NPC primarily involving neuronal, particularly axonal, degeneration.

Nuts and Bolts of Consensus Recommendations of Biomarkers and Genetic Testing to Differentiate Behavioral Variant Frontotemporal Dementia From Primary Psychiatric Disorders

Nuts and Bolts of Consensus Recommendations of Biomarkers and Genetic Testing to Differentiate Behavioral Variant Frontotemporal Dementia From Primary Psychiatric Disorders

Clinical Accuracy of Serum Neurofilament Light to Differentiate Frontotemporal Dementia from Primary Psychiatric Disorders is Age-Dependent

BackgroundSymptoms of behavioral variant frontotemporal dementia (bvFTD) overlap with primary psychiatric disorders (PPD) making diagnosis challenging. Serum neurofilament light (sNfL) is a candidate biomarker to distinguish bvFTD from PPD, but large-scale studies in PPD are lacking. ObjectiveDetermine factors that influence sNfL from a large database of PPD patients, and test its diagnostic accuracy. Design, Settings, Subjects, MeasurementsClinical data of people aged 40–81 were obtained from healthy subjects (n = 69), and patients with PPD (n = 848) or bvFTD (n = 82). sNfL was measured using Simoa technology on an HD-X instrument. Data were analyzed using general linear models, and Receiver Operating Characteristic (ROC) curve analyses to determine global and age-specific sNfL cutoffs to distinguish bvFTD from PPD, using the Youden Index. ResultssNfL increased with age, while sex, BMI and diabetes status were modestly associated with sNfL. sNfL was slightly higher in PPD than healthy subjects (14.1 versus 11.7 pg/mL), when controlling for covariates. sNfL was markedly lower in PPD than bvFTD (14.1 versus 44.1 pg/mL). sNfL could differentiate PPD from bvFTD with an AUC = 0.868, but the effect was driven by the younger subjects between age 40–60 years at a cutoff of 16.0 pg/mL. No valid cutoff was detected over age 60, however, values of sNfL above 38.5 pg/mL, or below 13.9 pg/mL, provided 90% diagnostic certainty of bvFTD or PPD, respectively. ConclusionPPD have mildly elevated sNfL compared to healthy subjects but much lower than bvFTD. Results support the use of sNfL as a biomarker to differentiate PPD from bvFTD at age 60 or below, but accuracy decreases in older ages.

VentRa: distinguishing frontotemporal dementia from psychiatric disorders.

The volume of the lateral ventricles is a reliable and sensitive indicator of brain atrophy and disease progression in behavioural variant frontotemporal dementia. In this study, we validate our previously developed automated tool using ventricular features (known as VentRa) for the classification of behavioural variant frontotemporal dementia versus a mixed cohort of neurodegenerative, vascular and psychiatric disorders from a clinically representative independent dataset. Lateral ventricles were segmented for 1110 subjects-14 behavioural variant frontotemporal dementia, 30 other frontotemporal dementia, 70 Lewy body disease, 898 Alzheimer's disease, 62 vascular brain injury and 36 primary psychiatric disorder from the publicly accessible National Alzheimer's Coordinating Center dataset to assess the performance of VentRa. Using ventricular features to discriminate behavioural variant frontotemporal dementia subjects from primary psychiatric disorders, VentRa achieved an accuracy rate of 84%, a sensitivity rate of 71% and a specificity rate of 89%. VentRa was able to identify behavioural variant frontotemporal dementia from a mixed age-matched cohort (i.e. other frontotemporal dementia, Lewy body disease, Alzheimer's disease, vascular brain injury and primary psychiatric disorders) and to correctly classify other disorders as 'not compatible with behavioral variant frontotemporal dementia' with a specificity rate of 83%. The specificity rates against each of the other individual cohorts were 80% for other frontotemporal dementia, 83% for Lewy body disease, 83% for Alzheimer's disease, 84% for vascular brain injury and 89% for primary psychiatric disorders. VentRa is a robust and generalizable tool with potential usefulness for improving the diagnostic certainty of behavioural variant frontotemporal dementia, particularly for the differential diagnosis with primary psychiatric disorders.

Priméren jelenlévő pszichiátriai zavarok dermatológiai vonatkozásai

The field of psychodermatology has received increasing attention because psychological comorbidity associated with skin lesions impairs our patients' quality of life, compliance with dermatological treatment and its success. In our review, possible classifications of comorbid psychological disorders of high dermatological significance are presented . Furthermore primary psychiatric disorders of relevance to dermatological practice are demonstrated. We describe their clinical picture, epidemiology and comorbidities.. Lesions that can be identified as alarming signs are highlighted, This will be carried out along the DSM-5 nosological system, with the alphanumeric codes of ICD-10.

New-onset seizures misdiagnosed as psychogenic non-epileptic seizures: a case of paraneoplastic limbic encephalitis with primary testicular cancer

BackgroundBehavioral psychiatric symptoms can be the only warning signs of more serious conditions such as paraneoplastic limbic encephalitis. Differentiating between primary psychiatric disorders and paraneoplastic neurological syndromes is crucial as they require distinct treatment approaches. In this case report, we provide an overview of paraneoplastic encephalitis and introduce a unique case that showcases a misdiagnosis of psychogenic non-epileptic seizures (PNES) in a male as the primary symptom of paraneoplastic encephalitis due to pure seminoma. This case highlights the underlying pathophysiology of antibody-mediated paraneoplastic encephalitis and its significance.Case presentationA 31-year-old male with no known past medical history presented due to recurrent seizures. There was no prior history of epilepsy or exposure to seizure-triggering agents. Imaging and electroencephalogram findings during his initial hospitalizations pointed to a potential diagnosis of PNES. The patient continued to experience seizures following discharge, leading to repeat hospitalizations. During the fourth hospitalization, the patient received mood-stabilizing anti-seizure medications and benzodiazepines, but he deteriorated and required intubation. It was during this time that the patient was transferred to our facility. Magnetic resonance imaging of the brain revealed multifocal areas of hyperintensity and restricted diffusion with avid enhancement. Immunotherapy was initiated with improvement of non-epileptic spells and encephalopathy. Outpatient workup uncovered malignant pure seminoma with metastases to the retroperitoneum. The authors theorize that paraneoplastic neurological disorders stemming from testicular cancer led to the neurological symptoms seen in this case.ConclusionThis report highlights a rare occurrence of paraneoplastic limbic encephalitis associated with pure testicular seminoma, clinically manifested as PNES. The diagnostic challenge posed by variability of presenting symptoms in paraneoplastic encephalitis emphasizes the importance of accurate differentiation from conditions such as autoimmune encephalitis. Current diagnostic approaches for paraneoplastic and autoimmune etiologies involve detection of known antibodies, as well as brain imaging. Notable antibodies associated with psychogenic non-epileptic seizures symptoms include anti-GAD-65, anti-Ma2, KLH11-antibodies, anti-Hu, and NMDA receptor antibodies. Recognizing paraneoplastic limbic encephalitis symptoms is challenging and often leads to misdiagnosis or overlooking of malignancies highlighting the need for awareness, comprehensive evaluation and timely treatment. Through this comprehensive case analysis, we enhance the understanding of underlying mechanisms, associated symptoms, and treatment options.

The use of synaptic biomarkers in cerebrospinal fluid to differentiate behavioral variant of frontotemporal dementia from primary psychiatric disorders and Alzheimer’s disease

BackgroundLack of early molecular biomarkers in sporadic behavioral variants of frontotemporal dementia (bvFTD) and its clinical overlap with primary psychiatric disorders (PPD) hampers its diagnostic distinction. Synaptic dysfunction is an early feature in bvFTD and identification of specific biomarkers might improve its diagnostic accuracy. Our goal was to understand the differential diagnostic potential of cerebrospinal fluid (CSF) synaptic biomarkers in bvFTD versus PPD and their specificity towards bvFTD compared with Alzheimer’s disease (AD) and controls. Additionally, we explored the association of CSF synaptic biomarkers with social cognition, cognitive performance, and disease severity in these clinical groups.MethodsParticipants with probable bvFTD (n = 57), PPD (n = 71), AD (n = 60), and cognitively normal controls (n = 39) with available CSF, cognitive tests, and disease severity as frontotemporal lobar degeneration-modified clinical dementia rating scale (FTLD-CDR) were included. In a subset of bvFTD and PPD cases, Ekman 60 faces test scores for social cognition were available. CSF synaptosomal-associated protein 25 (SNAP25), neurogranin (Ng), neuronal pentraxin 2 (NPTX2), and glutamate receptor 4 (GluR4) were measured, along with neurofilament light (NfL), and compared between groups using analysis of covariance (ANCOVA) and logistic regression. Diagnostic accuracy was assessed using ROC analyses, and biomarker panels were selected using Wald’s backward selection. Correlations with cognitive measures were performed using Pearson’s partial correlation analysis.ResultsNPTX2 concentrations were lower in the bvFTD group compared with PPD (p < 0.001) and controls (p = 0.003) but not compared with AD. Concentrations of SNAP25 (p < 0.001) and Ng (p < 0.001) were elevated in patients with AD versus those with bvFTD and controls. The modeled panel for differential diagnosis of bvFTD versus PPD consisted of NfL and NPTX2 (AUC = 0.96, CI: 0.93–0.99, p < 0.001). In bvFTD versus AD, the modeled panel consisted of NfL, SNAP25, Ng, and GluR4 (AUC = 0.86, CI: 0.79–0.92, p < 0.001). In bvFTD, lower NPTX2 (Pearson’s r = 0.29, p = 0.036) and GluR4 (Pearson’s r = 0.34, p = 0.014) concentrations were weakly associated with worse performance of total cognitive score. Lower GluR4 concentrations were also associated with worse MMSE scores (Pearson’s r = 0.41, p = 0.002) as well as with worse executive functioning (Pearson’s r = 0.36, p = 0.011) in bvFTD. There were no associations between synaptic markers and social cognition or disease severity in bvFTD.ConclusionOur findings of involvement of NTPX2 in bvFTD but not PPD contribute towards better understanding of bvFTD disease pathology.

Psichikos sutrikimų simptomai, sergant Alzheimerio liga

Alzheimer’s disease is one of the most common neurodegenerative diseases among older people that manifests as deterioration of cognitive functions, impaired daily activities, and progressive degeneration of cerebral cortex neurons. Even up to 90% of Alzheimer’s patients develop neuropsychiatric symptoms at different stages of the disease. In some cases, neuropsychiatric symptoms appear earlier than cognitive symptoms. Neuropsychiatric symptoms worsen everyday activities, quality of life, and ability to socialise of people with Alzheimer's disease, making the diagnosis and treatment of these symptoms increasingly important. Evaluation of both cognitive and neuropsychiatric symptoms together with differentiation from primary psychiatric disorders is crucial for the correct diagnosis of Alzheimer’s disease. Furthermore, neuropsychiatric symptoms can be considered as risk factors for the development of Alzheimer’s disease. Treatment is recommended with combined pharmacological and non-pharmacological measures. Despite the large number of studies, the pathogenesis of the neuropsychiatric symptoms has not been studied in depth, therefore the treatments provided are not always effective. It is recommended that neuropsychiatric symptoms should be treated through a combined approach using pharmacological and non-pharmacological measures.

A Rare Cause of Dementia in a Young Adult – A Case Report

Frontotemporal dementia is a clinically and pathologically heterogeneous group of disorders with two main phenotypes; the commoner being a disorder of behavior and function. This dementia is most common before age 60 with more than half being seen in the age range 45-65 years. We report the case of a 27-year-old gentleman who presented with behavioral &amp; personality changes 2 years before his presentation in our clinic. A neurological examination revealed a restless patient with gibberish speech and a positive snout reflex. The rest of the examination was non-focal. MRI brain showed significant atrophy of frontal and temporal lobes with intact parietal and occipital cortex. Based on clinical and radiological findings, we made the diagnosis of Frontotemporal dementia. Our case emphasizes the need to differentiate young-onset dementia from primary psychiatric disorders which are relatively more common at a young age.

Psychocutaneous Disorders in Paediatric Population: A Cross-Sectional Observational Study in a Tertiary Care Centre in Eastern India

Abstract Introduction: Psychocutaneous disorders in children have been a gray zone in dermatology practice. It can be secondary to some primary dermatological disorder or can be a presentation of underlying primary psychiatric illness. There is a paucity of data regarding the occurrence of these disorders in the pediatric population. The present study was carried out to assess the proportion of primary psychiatric dermatoses in the pediatric population seeking dermatological care. Materials and Methods: This was a hospital-based cross-sectional observational study done over 6 months. All consecutive children &lt;14 years old presenting with primary psychiatric disorders (PPDs) to the dermatology outpatient department were recruited in the study. Results: PPDs were found in 0.41% of the pediatric patients attending the outpatient department. Dermatitis artefacta was the most common PPD in our study (47.05%). Other less frequently observed PPDs were trichotillomania, lip-licking dermatitis, and nail-biting. Underlying psychiatric illness was found in 41.17% of affected children. Conclusion: Primary psychiatric dermatoses in children could go undiagnosed because of its rarity but early diagnosis is essential as it can be an early sign or a harbinger of underlying severe psychiatric illness.

Psychiatric disorders in pregnant women admitted to the high-risk obstetric service in a Colombian university clinic between 2013 and 2017

ObjectiveTo determine the psychiatric diagnoses and treatments of patients admitted to the high-risk obstetric service who underwent a consultation with a liaison psychiatrist. MethodsA descriptive observational study that included pregnant women from the high-risk obstetric service of a highly specialised clinic in Medellín, who had a liaison psychiatry consultation between 2013 and 2017. The main variables of interest were psychiatric and obstetric diagnoses and treatments, in addition to biopsychosocial risk factors. ResultsA total of 361 medical records were screened, with 248 patients meeting the inclusion criteria. The main prevailing psychiatric diagnosis was major depressive disorder (29%), followed by adaptive disorder (21.8%) and anxiety disorders (12.5%). The pharmacologic treatments most used by the psychiatry service were SSRI antidepressants (24.2%), trazodone (6.8%) and benzodiazepines (5.2%). The most common primary obstetric diagnosis was spontaneous delivery (46.4%), and the predominant secondary obstetric diagnoses were hypertensive disorder associated with pregnancy (10.4%), gestational diabetes (9.2%) and recurrent abortions (6.4%). Overall, 71.8% of the patients had a high biopsychosocial risk. ConclusionsThe studied population's primary psychiatric disorders were major depressive disorder, adjustment disorder and anxiety disorders, which implies the importance of timely recognition of the symptoms of these perinatal mental pathologies, together with obstetric and social risks, in the prenatal consultation. Psychiatric intervention should be encouraged considering the negative implications of high biopsychosocial risk in both mothers and children.

Are We Missing Early-onset Frontotemporal Dementia as Late-onset Primary Psychiatric Disorder? A Case Series

Abstract Frontotemporal dementia (FTD) presents with a wide variability in clinical progressive syndromes, genetic etiologies, and underlying pathologies. Early diagnosis of combined features of behavioral and language variants of FTD poses a clinical challenge due to its complex heterogeneous clinical presentations, phenotypical overlap, and frequent normal neuroimaging during the initial phase. This masquerading nature has often led to unintended “misdiagnoses,” as typical dementia features evolve late. The enigmatic resemblance of early-onset (&lt;65 years of age) FTD with a range of late-onset (&gt;45 years of age) primary psychiatric disorders emphasizes the need for high index of clinical suspicion, thorough family history for neurocognitive disorders, and regular follow-up of such individuals. We describe the clinical profile and management of four cases of combined variant FTD (cvFTD) that clinically mimicked late-onset psychiatric disorders such as catatonia, depressive disorder, psychosis, and personality changes. Parkinsonian-like features and mid-brain atrophy in FTD may indicate phenotypical overlap and shared neuropathology with progressive supranuclear palsy.

New onset gender dysphoria in bipolar affective disorder - A case series

Gender confusion in the context of mania is very less frequently described in the literature. The actuality of a primary psychiatric condition in gender identity complaint has significant bearing on the applicable operation and prognostic. This case series describes cases of bipolar affective complaint presenting in a manic occasion whose mania was marked by hypersexuality and the desire to be of opposite gender. Both of these symptoms resolved with treatment of the manic occasion. Case 1 describes a 17-year-old male presenting with an episodic illness, with current manic episode. He is currently interested in boys and has started enjoying feminine activities. Upon treatment, his symptoms showed improvement. Case 2 describes a 22-year-old gay male, with a total duration of 7 years, current episode mania. Now, he is considering himself a lesbian and feels he is mentally a modern female. After 4 months of treatment, there was significant improvement in his complaints and he stopped cross-dressing as a female. Case 3 shows a 21-year-old female, with manic episode. After 1 month, the patient began acting and speaking more like a boy. The patient has shown improvement while taking lithium 900 mg, divalproex sodium 1000 mg, risperidone 6 mg, and chlorpromazine 150 mg. Gender dysphoria occurring along with a psychotic episode and resolving with management of the primary psychiatric disorder are rarely recorded. The central issue in similar cases is a proper workup and diagnosis. Psychiatrists should be aware of this scenario so that proper treatment strategies for gender incongruence can be planned and not be brushed aside as “just another symptom.”

Visual rating scales of atrophy to differentiate Frontotemporal dementia from Primary psychiatric disorder: results from DIPPA study

AbstractBackgroundAdult‐onset behavioral changes and altered executive functioning are frequently caused by behavioural variant of Frontotemporal dementia (bvFTD) or primary psychiatric disorders (PPD) which overlap in terms of clinical presentations but differ in terms of treatment and prognosis. The multi‐centre study DIPPA‐FTD aims to develop diagnostic and prognostic algorithms to help distinguish sporadic bvFTD from late‐onset PPD. Although atrophy on neuroimaging seems to be an appropriate discriminator between neurodegenerative and non‐neurodegenerative conditions, the sensitivity of frontotemporal atrophy for bvFTD is relatively low, whereas decreased brain volumes may be found in conditions like schizophrenia. The aim of the study is to identify a discriminative pattern of brain atrophy between bvFTD and PPD in a clinically applicable way.MethodThe DIPPA FTD consortium retrospectively collected patients with late onset behavioral disturbances after the age of 45 years, across 5 centers (Milan, Amsterdam, Munich, Sydney, Montreal). The subjects had been classified either as bvFTD or PPD according to current clinical criteria and the majority had clinical follow‐up. Among the patients collected in the project, only those with T1 MRI available were selected. A protocol of 9 visual rating scales of atrophy (orbitofrontal, anterior cingulate, anterior temporal, fronto‐insula, medial temporal, parietal, medial ventricular and axial ventricular) was applied by a rater blind for clinical and demographic infomation. The rater was asked to classify the subjects as bvFTD or PPD. A composite score of frontal, temporal and ventricular rating scales was also calculated.ResultThe MRIs of 323 subjects (211 bvFTD and 112 PPD) were analysed. Groupwise bvFTD cases showed significantly higher scores of atrophy for all the scales used. The rater accurately predicted 72% of the cases (Sens 0.70, Spec 0.76) while the composite score reached an accuracy of 76% (Sens 0.77 Spec 0.74). ROC curve analysis showed that fronto‐insula was the single most useful scale in the differentiation between bvFTD and PPD (AUC 0.80).ConclusionBrain atrophy has a significant role in the discrimination between bvFTD and PPD. The use of visual rating scales, and in particular the fronto‐insula one, could increase the diagnostic accuracy in the clinical setting.

Visual rating scales of atrophy to differentiate Frontotemporal dementia from Primary psychiatric disorder: results from DIPPA study

AbstractBackgroundAdult‐onset behavioral changes and altered executive functioning are frequently caused by behavioural variant of Frontotemporal dementia (bvFTD) or primary psychiatric disorders (PPD) which overlap in terms of clinical presentations but differ in terms of treatment and prognosis. The multi‐centre study DIPPA‐FTD aims to develop diagnostic and prognostic algorithms to help distinguish sporadic bvFTD from late‐onset PPD. Although atrophy on neuroimaging seems to be an appropriate discriminator between neurodegenerative and non‐neurodegenerative conditions, the sensitivity of frontotemporal atrophy for bvFTD is relatively low, whereas decreased brain volumes may be found in conditions like schizophrenia. The aim of the study is to identify a discriminative pattern of brain atrophy between bvFTD and PPD in a clinically applicable way.MethodThe DIPPA FTD consortium retrospectively collected patients with late onset behavioral disturbances after the age of 45 years, across 5 centers (Milan, Amsterdam, Munich, Sydney, Montreal). The subjects had been classified either as bvFTD or PPD according to current clinical criteria and the majority had clinical follow‐up. Among the patients collected in the project, only those with T1 MRI available were selected. A protocol of 9 visual rating scales of atrophy (orbitofrontal, anterior cingulate, anterior temporal, fronto‐insula, medial temporal, parietal, medial ventricular and axial ventricular) was applied by a rater blind for clinical and demographic infomation. The rater was asked to classify the subjects as bvFTD or PPD. A composite score of frontal, temporal and ventricular rating scales was also calculated.ResultThe MRIs of 323 subjects (211 bvFTD and 112 PPD) were analysed. Groupwise bvFTD cases showed significantly higher scores of atrophy for all the scales used. The rater accurately predicted 72% of the cases (Sens 0.70, Spec 0.76) while the composite score reached an accuracy of 76% (Sens 0.77 Spec 0.74). ROC curve analysis showed that fronto‐insula was the single most useful scale in the differentiation between bvFTD and PPD (AUC 0.80).ConclusionBrain atrophy has a significant role in the discrimination between bvFTD and PPD. The use of visual rating scales, and in particular the fronto‐insula one, could increase the diagnostic accuracy in the clinical setting.

Mild Behavioral impairment (MBI) and late-life psychiatric disorders: Differential clinical features and outcomes.

Mild Behavioral Impairment (MBI) refers to a late-onset neurobehavioral syndrome in which neuropsychiatric symptoms (NPS) represent early markers of dementia. Though being a promising diagnostic category for neurobiological research, in daily clinical practice, the boundaries and relationships between MBI and late-life psychiatric disorders are yet to be established. Particularly, no studies have been conducted so far on the prognostic implications of an MBI diagnosis in the psychogeriatric context.For these reasons, since June 2020, we are conducting a prospective longitudinal study on MBI in psychogeriatric patients. On June 2022, 144 elderly patients (≥50 years) referred to the outpatient clinic of the 2nd Psychiatric Unit of the University of Pisa had been recruited. Patients had been diagnosed with a primary psychiatric disorder (N=73, 50.6%), MBI (N=40, 27.8%) or dementia (N=31, 21.5%). Patients with MBI showed a significantly higher age at onset of psychiatric disorders and depressive episodes than patients diagnosed with primary psychiatric disorders. MCI and vascular leukoencephalopathy were also more common in patients with MBI. Moreover, compared to primary psychiatric disorders, MBI was associated with a significantly higher psychopathology severity, especially in the apathy and negative symptoms domain.Preliminary longitudinal analyses were also performed on a subsample of 83 patients followed-up for at least 3 months (on average for one year): at baseline 44 patients had been diagnosed with primary mood disorders including 23 patients in remission and 21 patients with current mood episodes; 22 patients had MBI and 17 were diagnosed with dementia. While at follow-up patients with mood episodes showed a significant decrease in psychopathology severity and increase in global functioning, those with MBI had no significant improvements.In conclusion, MBI is a common condition in psychogeriatric settings and shows distinctive clinical features that may help differential diagnosis. Moreover, the presence of MBI in patients with late-life psychiatric disorders may affect both clinical and functional outcomes. The recognition of patients with MBI symptoms, including apathy, might be useful for the early detection of individuals with poor prognosis.

Clinical and genetic characteristics of patients with very early onset frontotemporal dementia

AbstractBackgroundFrontotemporal dementia (FTD) spectrum disorders may occur in patients who are under 45 years old, often posing a diagnostic challenge, yet little is known about the clinical presentation and underlying genetic causes in this age group.MethodAs part of a prospective study focused on FTD, 780 participants met the research criteria for an FTD spectrum disorder between 2002‐2021. Of these, 40 patients (5.1%, 18 females) presented with age at onset &lt; 45 years and constituted the very early onset frontotemporal dementia (VEO‐FTD) group. Their research records were reviewed to delineate their clinical characteristics. A panel of 40 dementia and amyotrophic lateral sclerosis‐associated genes was screened for pathogenic genetic variation using standardized methods.ResultBehavioral variant of frontotemporal dementia was disproportionally represented in the VEO‐FTD group (n = 35, 87.5%) suggesting selective vulnerability of the social‐emotional brain networks to frontotemporal lobar degeneration underlying neuropathologies in this age range. The median age at first symptom was 39 (interquartile range (IQR) = 32‐42.2) years, and the median diagnostic delay from symptom onset was 4 (IQR 2‐8.25) years. Initial misdiagnosis with a primary psychiatric disorder was prevalent, occurring in 17 (42.3%) of patients, and was diverse including mood, psychotic, anxiety, and addictive disorders. In five patients (12.5%), positive psychotic symptoms were reported, mostly as a presenting symptom or arising within a year from the first symptom. Among the VEO‐FTD patients, 18 (45%) carried C9orf72, MAPT or UBQLN2 pathogenic variants.ConclusionFTD spectrum disorders may occur under the age of 45 and are often misdiagnosed. The high prevalence of monogenic causes in this age group warrants timely genetic testing, especially in the era of emerging gene‐specific therapies.

Can the proposed research criteria for prodromal behavioural variant FTD be a bridge between neurologists and psychiatrists for early diagnosis?

AbstractBackgroundThe early diagnosis of the behavioural variant of frontotemporal dementia (FTD) is very challenging to clinicians. This type of dementia has a wide range of clinical variability, and the psychiatric presentation adds to the complexity of the differential diagnosis. The need for early precise diagnosis of FTD in the prodromal phase is increasing for tailored interventional strategies, better guidance, early counselling, and enrolment in clinical trials. However, its application in clinical practice needs good collaboration between psychiatrists and neurologists. We aimed to review the literature for studies highlighting the need for such collaboration.MethodWe performed a scoping literature review on early diagnosis of FTD, including suggested new biomarkers and psychometric studies supporting the diagnosis.ResultThe search identified a recent publication on proposed research criteria for prodromal bvFTD. These criteria were developed and validated by the ALLFTD Consortium. For the early detection of FTD, the investigators stressed the need to refine the definitions of neuropsychiatric disorders in neurodegenerative diseases differentiating them from primary psychiatric disorders, to conduct psychometric assessment to detect executive dysfunctions in patients presented with psychiatric disorders, lowering the threshold of suspicion, applying some tests for social cognition, and to use plasma and CSF biomarkers to support the diagnosis. It was considered important to use culturally adapted psychometric batteries for assessment of executive function and social cognition.ConclusionCollaboration between neurologists and psychiatrists will be needed to translate research criteria into clinical practice for the early diagnosis of patients with FTD. The current search for feasible biomarkers to improve the diagnostic utility is important and should be encouraged among psychiatrists as well as neurologists.

S4: Mild Behavioral Impairment. Assessment, biological and clinical factors in the cognitive impairment continuum

Symposium OverviewMild Behavioral Impairment (MBI) is a diagnostic construct defined by the later-life emergence of persistent neuropsychiatric symptoms (for example, apathy, anxiety, depression, amongst others) displayed by older adults, with the aim to identify individuals at increasing risk of future dementia. The construct is also related to AD biomarkers including beta-amyloid, tau, and cerebral atrophy. For the assessment of MBI, researchers developed the Mild Behavioral Impairment Checklist (MBI-C) (Ismail et al., 2017) evaluating five domains: decreased motivation, affective dysregulation, impulse dyscontrol, social inappropriateness, and abnormal thought and perception.The purpose of this symposium is to present four contributions that allow increasing our knowledge of the added value of MBI in clinical diagnosis of neurocognitive disorders.Firstly, Dr. Maurits Johansson from Lund University (Malmö, Sweden) presents an overview of the role of MBI in the contemporary clinical diagnostic criteria for AD and some perspectives for treatment in the future.Then, Dr. Sabela C. Mallo from the University of Santiago de Compostela (Spain) and Dr. Byron Creese from the University of Exeter (UK) will talk on methodological issues regarding the MBI-C, the underlying structure of the instrument and the impact of the self and informant ratings in the results of the questionnaire.Dr. Martin Vyhnalek from the Faculty of Medicine of Prague (Czech Republic) will discuss the MBI profile and severity in a sample of β-amyloid positive individuals with amnestic Mild Cognitive Impairment compared to Cognitively Normal older adults.Lastly, Dr. Camilla Elefante and Giulio Emilio Brancati from the University of Pisa (Italy) will analyze the relationships and boundaries between MBI and late-life major primary psychiatric disorders in patients who attend to psychogeriatric settings.