Managing the Dual Diagnosis Dilemma of Bipolar Disorder and Substance Abuse in Clinical Settings.

OBJECTIVE: Drug addiction is a chronic mental disorder that significantly impacts all aspects of an individual's life, and substance use disorder in patients with bipolar disorder. The objective of this study is to assess the frequency of substance abuse among patients with bipolar spectrum disorder. METHOD: This cross-sectional study evaluated the frequency of bipolar spectrum disorder in patients taking methadone through various screening measures, including Mini Mental State Examination (MMSE), DSM IV criteria, Mood Disorders Questionnaire (MDQ), Goodwin and Ghaemi's criteria, and Akiskal classification for bipolar disorders. RESULTS: Out of the total 197 participants in the study, 77 were identified as individuals engaging in poly-substance abuse. The investigation assessed the frequency of bipolar spectrum disorder based on various diagnostic criteria: 24% according to DSM-IV criteria, 29.9% using MDQ, 29.9% based on Ghaemi and Goodwin's criteria, and the highest rate at 48.2% when applying Akiskal's classification. CONCLUSIONS: This study highlights the high frequency of bipolar disorder among individuals with substance use disorder, especially those with concomitant depression. Therefore, it is crucial to pay special attention to individuals with substance use disorder with co-existing bipolar disorder.

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome. Presentations in CSPP1 include cerebellar and brainstem malformations with vermis hypoplasia and molar tooth sign, difficult to visualize in early gestation. A second pregnancy was marked by the recurrence of isolated increased nuchal translucency at 10 + 2 WG. Sanger prenatal diagnosis targeted on ASCC1 and CSPP1 variants showed the presence of the homozygous familial ASCC1 variant. In this case, prenatal exome sequencing analysis is subject to a partial ASCC1 phenotype and an undetectable CSPP1 phenotype at 10 weeks of gestation. As CSPP1 contribution is unclear or speculative to a potentially later in pregnancy or postnatal phenotype, it is mentioned as a variant of uncertain significance. The detection of pathogenic or likely pathogenic variants involved in severe disorders but without phenotype-genotype correlation because the pregnancy is in the early stages or due to prenatally undetectable phenotypes, will encourage the clinical community to define future practices in molecular prenatal reporting.

Dual diagnosis of epilepsy and dissociative seizures: Prescription patterns, feasibility and safety of rationalising antiseizure medication.

BACKGROUND: Patients with a dual-diagnosis of epilepsy and dissociative seizures (DS) have received far less attention than those with single pathology. Anti-seizure medication (ASM) prescription patterns and safety of rationalisation have not been reviewed. METHODS: We undertook a retrospective cohort study of all patients with a dual-diagnosis admitted to the Scottish Epilepsy Centre between 2012-2020. ASM frequencies were compared across admission, discharge and follow-up and emergency hospital attendances compared a year before and after admission. Demographic data, seizure characteristics and mortality data were also reviewed. RESULTS: Across the 139 patients included in our study, ASM frequency at follow-up was significantly lower than on admission (mean 2.51 vs 2.14, Z = -2.11 p = 0.035, r = -0.215). Total hospital attendances in the year following admission were significantly lower than in the year before (mean 1.27 vs 0.77, Z = 2.306, p = 0.021, r = -0.262). Those with inactive epilepsy had their medications reduced to a greater extent that those with active epilepsy. 44 patients had their ASM frequency reduced during admission with a similar trend of reduced hospital attendances (mean 1.29 vs 0.43 Z = -3.162 p = 0.002). There was one epilepsy related death. CONCLUSIONS: Clinicians should consider the development of co-morbid DS in patients with epilepsy not responding to an escalation of ASM, especially if presenting with a new seizure type. Patients with a dual-diagnosis of epilepsy and DS, particularly those with well controlled epilepsy, are likely overtreated with ASM. Medication review in a tertiary epilepsy centre allows for safe rationalisation of ASM and likely contributes to the need for fewer hospital attendances.

Evaluation of clinical outcomes and employment status in veterans with dual diagnosis of traumatic brain injury and spinal cord injury.

PURPOSE: To examine clinical outcomes and employment status in Veterans with and without a dual diagnosis of traumatic brain injury (TBI) and spinal cord injury (SCI). METHODS: This cross-sectional study examined a national sample of Veterans enrolled in the VA Million Veteran Program who completed the Comprehensive TBI Evaluation (CTBIE) as part of the Veterans Health Administration's TBI Screening and Evaluation Program. Veterans (N = 12,985) were classified into the following TBI/SCI groups using CTBIE data: those with a dual diagnosis of TBI and SCI (TBI+/SCI+); those with a history of TBI but no SCI (TBI+/SCI-); and those with no history of TBI or SCI (TBI-/SCI-; i.e., the control group). CTBIE-derived outcomes included neurobehavioral symptoms, comorbid psychiatric symptoms, pain and pain interference, and employment status. RESULTS: Chi-square analyses showed significant associations between TBI/SCI group and all clinical outcomes evaluated (all p's < .001; V = 0.07-0.11). In general, the TBI+/SCI+ and TBI +/SCI- groups endorsed comparable levels of neurobehavioral symptoms, psychiatric symptoms, and pain, but significantly greater rates of symptoms and pain relative to the TBI-/SCI- group. Effect sizes for all pairwise comparisons were small (φ = 0.01-0.11). Finally, there was no significant association between TBI/SCI group and employment status (p = .170; V = 0.02), with all three groups showing relatively comparable rates of unemployment. CONCLUSIONS: Regardless of SCI status, Veterans with TBI history endorsed poorer clinical outcomes than Veterans without TBI and SCI. However, rates of unemployment were similarly high across all three groups. Findings suggest that any Veteran completing the CTBIE may be at risk for poor clinical and employment outcomes.

Polypharmacy in antipsychotic pharmacological treatment among patients with dual diagnosis in Denmark.

INTRODUCTION: Antipsychotic polypharmacy is prevalent, however literature on antipsychotic polypharmacy during treatment among patients with dual diagnosis is largely non-existent. This study aims to investigating the extent of antipsychotic polypharmacy dual diagnosis patients during hospitalisations. METHODS: Utilizing cohort data from an integrated dual diagnosis in-patient facility from patients hospitalized between 1 March 2012, to 31 December 2016, we compared the mean antipsychotic medication administered at admission and discharge and examined covariate associations with logistic regressions. RESULTS: The study identified 907 hospital admissions, of which 641 were the first for each patient during the period. At admission, 74.1% received antipsychotics; polypharmacy spanned psychiatric disorders. categories. Patients with affective or personality spectrum disorders were less likely to have antipsychotic polypharmacy upon admission compared to those with psychosis spectrum disorders. 2013-2016 admissions presented less polypharmacy than 2012. Mean antipsychotic numbers remained unchanged for >30-day hospitalizations. Patients admitted without antipsychotic polypharmacy with an affective spectrum disorder or aged 41-50 or over 51 years old were less likely to be discharged with antipsychotic polypharmacy when compared to patients with psychosis spectrum disorder or aged 18-30 years old. CONCLUSION: Approximately three-quarters of admitted patients were treated with antipsychotic medication. Antipsychotic polypharmacy was observed across all psychiatric disorder categories, indicating potential off-label use. Addressing antipsychotic polypharmacy during treatment is challenging, even for specialised facilities. Rational antipsychotic prescribing, deprescribing protocols, and further prescription pattern research are needed.

JAK2 R683S Mutation Resulting in Dual Diagnoses of Chronic Eosinophilic Leukemia and Myelodysplastic/Myeloproliferative Overlap Syndrome.

A 66-year-old male presented with hypereosinophilia, thrombocytosis, extensive thrombosis refractory to direct oral anticoagulant therapy, and evidence of end-organ damage, including rash, splenic infarcts, and pulmonary infiltrates. Bone marrow biopsy revealed myeloid malignancy consistent with both chronic eosinophilic leukemia and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) with SF3B1 mutation and thrombocytosis. Next-generation sequencing of the patient's eosinophils and neutrophil compartments revealed pathologic variants in EZH2 and SF3B1 in addition to a noncanonical JAK2 R683S mutation that has not been previously described in myeloproliferative disorders or other chronic myeloid neoplasms. These mutations were not present in the patient's lymphoid cell fraction, suggesting that the hematopoietic malignancy arose in a myeloid-committed progenitor cell. Based on this case and previous work from our group, we propose that noncanonical JAK2 mutations may permit signal transduction that biases toward eosinophilic differentiation in chronic myeloid neoplasms. Although the patient's blood counts initially responded to ruxolitinib and hydroxyurea, the response was not durable. Early referral for allogenic bone marrow transplant appears necessary to prevent long-term complications and disease progression in myeloid neoplasms with clonal hypereosinophilia driven by noncanonical JAK2 mutations.

Afectación de la espiritualidad en el proceso de recuperación de personas con diagnóstico dual / The effect of the spirituality in the recovery process of people with dual diagnosis

Objetivos: medir el impacto de la participación en actividades espirituales en el proceso de recuperación de patología dual. Métodos: estudio observacional descriptivo con metodología mixta realizado con una muestra de 20 usuarios hombre, tratados en régimen interno en la Comunidad Terapéutica (CT): Ayuda a la Recuperación de Politoxicómanos de Málaga (ARPOM), en Málaga, España. La espiritualidad se ha medido según el Cuestionario de Espiritualidad de Parsian y Dunning validado al español; y el proceso de recuperación, a través de grupo focal. Resultados: la puntuación media de la espiritualidad ha sido de 2,9 en un rango de 0-4, donde 4 se corresponde a “totalmente de acuerdo” en base a afirmaciones realizadas sobre la espiritualidad. Los grupos focales mostraron que los usuarios en su mayoría asocian la espiritualidad a la religión, y no a la ética y moral; y que su deseo en el proceso de recuperación es implementar la realización de actividades espirituales en su tratamiento. Conclusiones: la realización de actividades espirituales influencia positivamente el proceso de recuperación de los usuarios con patología dual.(AU)

Objective: To assess the influence of participation in spiritual activities on the recovery process of individuals with dual pathology. Methods: A descriptive observational study with a sample of 20 users treated internally in the Therapeutic Community: Ayuda a la Recuperación de Politoxicómanos de Málaga, in Málaga, Spain. Spirituality was assessed using the Parsian and Dunning Spirituality Questionnaire, which has been validated in Spanish, and the recovery process was examined through focus groups. Results: The mean spirituality score was 2.9 on a scale of 0-4, where 4 corresponds to "totally agree," based on statements about spirituality. The focus groups showed that users mostly associate spirituality with religion, not with ethics and morality, and that users in the recovery process desire to implement spiritual activities in their treatment. Conclusions: Performing spiritual activities positively impacts the recovery process of users with dual pathology.(AU)

Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets.

BACKGROUND: Fragile X syndrome (FXS) and fetal alcohol syndrome disorders are both common causes of intellectual disability in children. When both conditions are present in the same individual, the resultant phenotype may make identification of clinical issues and management challenging. CASE PRESENTATION: In this case report, we present a case of triplets who had significant in utero alcohol exposure; 2 of whom also have FXS and the other not having the fragile X mutation. The siblings with FXS have subtle differences in the physical phenotype compared with the other one, who has prominent features of partial fetal alcohol syndrome instead. However, all 3 siblings have intellectual impairment (although this is more severe in the 2 with FXS), meet diagnostic criteria for autism spectrum disorder, and present with severe behavioral challenges. The clinical presentation of the 2 siblings with FXS is much more severe as compared to a child with FXS alone, and this is likely due to the additive effect of in utero alcohol exposure and environmental factors. We discuss the combination of these 2 pathologies and how this can affect the overall clinical presentation. CONCLUSION: In the management of children with FXS, evaluation for other risk factors that can have neurobehavioral sequelae is important, and these can affect clinical presentation and prognosis.

AUTISM SPECTRUM DISORDER AND SCHIZOPHRENIA - SIMILARITIES BETWEEN THE TWO DISORDERS WITH A CASE REPORT OF A PATIENT WITH DUAL DIAGNOSIS.

This paper presents the genetic, molecular and neuroanatomical similarities between autism spectrum disorder (ASD) and schizophrenia using the case report of a 34-year-old female patient with a previous diagnosis of schizophrenia as an example. As a result of repeat hospitalization, expanded history, psychological testing and verification of persistent symptoms of psychopathology, a cooccurring diagnosis of autism spectrum disorder was made.

Prevalence of hepatitis C virus infection in patients with chronic mental disorders: The relevance of dual disorders / Prevalencia de la infección por el virus de la hepatitis C en pacientes con trastornos mentales crónicos: la relevancia de la patología dual

Objective: The prevalence of hepatitis C virus (HCV) infection is higher in people with psychiatric disorders compared to the general population. In addition, patients with severe mental illness are frequently affected by substance abuse, which increases the risk of blood-borne viral infections. Epidemiological studies in samples of hospitalised individuals with chronic mental disorders and dual diagnosis (DD) are lacking. The objective of this study was to investigate the prevalence of HCV infection in a sample of in-patients with severe mental illness. Patients and methods: This was a retrospective observational study. All patients meeting selection criteria admitted to the Medium-Term Psychiatric Unit of the University of Salamanca Health Care Complex between 2007 and 2018 were included. The primary endpoint was the prevalence of HCV infection. The secondary endpoint comprised the characteristics influencing the occurrence of HCV infection in these patients. Results: A total of 497 admissions were included and patients’ last admission data were considered for analyses (n=345). The overall prevalence of HCV infection was 3.8% and reached 14.3% among DD patients, who showed a higher prevalence than those without this condition (14.3% versus 3.1%, p=0.009). HCV RNA was detected in 6 individuals at diagnosis who received DAA treatment reaching sustained virological response. Conclusions:The prevalence of HCV infection in our sample was higher than in the general population, especially among DD patients. Despite the multiple barriers to access healthcare by patients with chronic mental illness, efforts to include this population in screening and treatment are mandatory.(AU)

Objetivo: La prevalencia de la infección por el virus de la hepatitis C (VHC) es mayor en las personas con trastornos psiquiátricos que en la población general. Además, los pacientes con enfermedades mentales graves padecen con frecuencia abuso de sustancias, que aumenta el riesgo de infecciones virales transmitidas por la sangre. El objetivo de este estudio fue investigar la prevalencia de la infección por el VHC en una muestra de pacientes hospitalizados con trastornos psiquiátricos graves. Pacientes y métodos: Se trata de un estudio observacional retrospectivo. Se incluyeron todos los pacientes que cumplían los criterios de selección ingresados en la Unidad de Convalecencia del Servicio de Psiquiatría del Complejo Asistencial Universitario de Salamanca entre 2007 y 2018. El criterio de evaluación principal fue la prevalencia de la infección por VHC. El criterio de evaluación secundario abarcó las características que contribuyen a dicha infección en estos pacientes. Resultados: Se consideraron los datos del último ingreso de los pacientes incluidos (n=345). La prevalencia global de la infección por VHC fue del 3,8% y alcanzó el 14,3% entre los pacientes con patología dual, que mostraron una prevalencia mayor que aquellos sin esta condición (14,3 versus 3,1%, p=0,009). Se detectó ARN de VHC en 6 individuos en el momento del diagnóstico, que recibieron tratamiento DAA y alcanzaron una respuesta virológica sostenida. Conclusiones: La prevalencia de infección por VHC en nuestra muestra fue mayor que en la población general, especialmente entre los pacientes con patología dual. A pesar de las barreras que dificultan el acceso a la atención sanitaria de los pacientes con enfermedades mentales crónicas, es imprescindible incluirlos en el cribado y el tratamiento.(AU)

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.

Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the WDR19 gene associated with autosomal recessive ciliopathy; down syndrome and two variants, c.850G>A; p.(Gly284Arg) and c.5374G>T; p.(Glu1792*), in the LAMA2 gene associated with merosin-deficient congenital muscular dystrophy type 1A (MDC1A); and a de novo 16p11.2 microdeletion syndrome and homozygous variant, c.2828G>A (p.Arg943Gln), in the ABCA4 gene associated with Stargardt disease 1 (STGD1). The possibility of being affected by two relatively common or rare inherited genetic conditions would be suspected when signs and symptoms are incoherent with the primary diagnosis. All this could have important implications for improving genetic counseling, determining the correct prognosis, and, consequently, organizing the best long-term follow-up.

Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male.

BACKGROUND: Sickle cell disease (SCD) and autosomal dominant polycystic kidney disease (ADPKD) are relatively common genetic conditions with considerable overlap in clinical presentation. In addition to similarities between the signs and symptoms in sickle cell nephropathy and ADPKD, more than half of SCD patients have kidney cysts. The co-occurrence of these two diseases has not been previously reported in the literature. CASE DIAGNOSIS/TREATMENT: A 16-year-old Black male with SCD had bilateral kidney enlargement and multiple simple cysts on ultrasound. Although kidney cysts are significantly more common in individuals affected with SCD, genetic testing with a broad kidney gene panel was performed to explore the possible presence of another underlying genetic cause of his cysts, in addition to SCD. A dual diagnosis of SCD and ADPKD was made following the identification of two copies of the common pathogenic sickle cell HBB variant (c.20A > T, p.Glu7Val) and a pathogenic missense variant in PKD1 (c.8311G > A, p.Glu2771Lys). CONCLUSIONS: SCD and ADPKD differ in pathophysiological mechanisms and treatment regimens. As such, it will be paramount for this teenager to be closely monitored for signs of diminished kidney function and to be co-managed as he transitions to adult care to ensure proper treatment and management. Early identification of individuals with both SCD and a co-occurring condition is crucial to ensuring proper clinical management. Furthermore, identifying and reporting additional patients with SCD and ADPKD dual diagnoses will help us to understand the co-occurring disease course and optimal treatments.

Application of the ICF and OTPF-4 to Conceptualize the Dual Diagnosis of COVID-19 and Stroke: Implications for Occupational Therapy Practice in Acute and Inpatient Rehabilitation.

There is mounting evidence that the vascular manifestations associated with COVID-19 are linked to ischemic strokes. The emergence of patients with both COVID-19 and cerebrovascular accidents (COV-CVA) has created a need to adjust occupational therapy service delivery for inpatients with this dual diagnosis. This clinical perspective paper conceptualizes COV-CVA as a health condition using the International Classification of Functioning, Disability and Health Framework (ICF). The Occupational Therapy Practice Framework-4 was used to guide clinical considerations and recommendations for the evaluation, intervention, and discharge planning of patients with COV-CVA.