scholarly journals Phenome-wide examination of comorbidity burden and multiple sclerosis disease severity

2020 ◽  
Vol 7 (6) ◽  
pp. e864
Author(s):  
Tingting Zhang ◽  
Matthew Goodman ◽  
Feng Zhu ◽  
Brian Healy ◽  
Robert Carruthers ◽  
...  

ObjectiveWe assessed the comorbidity burden associated with multiple sclerosis (MS) severity by performing a phenome-wide association study (PheWAS).MethodsWe conducted a PheWAS in 2 independent cohorts: a discovery (Boston, United States; 1993–2014) and extension cohort (British Columbia, Canada; 1991–2008). We included adults with MS, ≥1 Expanded Disability Status Scale (EDSS) score, and ≥1 International Classification of Diseases (ICD) code other than MS. We calculated the Multiple Sclerosis Severity Score (MSSS) using the EDSS. We mapped ICD codes into PheCodes (phenotypes), using a published system with each PheCode representing a unique medical condition. Association between the MSSS and the presence of each condition was assessed using logistic regression adjusted for covariates.ResultsThe discovery and extension cohorts included 3,439 and 4,876 participants, respectively. After Bonferroni correction and covariate adjustments, a higher MSSS was associated with 37 coexisting conditions in the discovery cohort. Subsequently, 16 conditions, including genitourinary, infectious, metabolic, epilepsy, and movement disorders, met the reporting criteria, reaching the Bonferroni threshold of significance with the same direction of effect in the discovery and extension cohort. Notably, benign neoplasm of the skin was inversely associated with the MSSS.ConclusionThe phenome-wide approach enabled a systematic interrogation of the comorbidity burden and highlighted clinically relevant medical conditions associated with MS severity (beyond MS-specific consequences) and defines a roadmap for comprehensive investigation of comorbidities in chronic neurologic diseases. Further prospective investigation of the bidirectional relationship between disability and comorbidities could inform the individualized patient management.

Author(s):  
Stephen J. Glatt ◽  
Stephen V. Faraone ◽  
Ming T. Tsuang

The diagnosis of schizophrenia cannot be made based on the results of an ob­jective diagnostic test or laboratory measure, though we and others are working towards this. Instead, clinicians diagnose schizophrenia based on behaviour and psychopathology (including the symptoms described in the previous chapter). These require the subjective interpretation of clinicians, but they can be as­sessed reliably. The definitions of major mental illnesses used by clinicians are presented in the Diagnostic and Statistical Manual (DSM) of the American Psychiatric Association (in the United States) and the World Health Organization’s International Classification of Diseases (ICD) in other countries. These def­initions are updated from time to time to reflect gains in knowledge, or to reflect modern thinking on the similarities and differences between certain disorders. From one edition to the next, some diagnoses are revised, some are added, and some vanish altogether, only to be replaced or absorbed under other diagnoses. The diagnostic criteria for schizophrenia as defined by the most recent version of the DSM (DSM- 5) include the presence of two or more of the following symptoms: delusions, hallucinations, disorganized speech, disorganized or cata­tonic behaviour, and negative symptoms. At least one of the two must be delu­sions, hallucinations, or disorganized speech, while the second symptom type required for diagnosis could be any of the remaining four criteria. The require­ment of delusions, hallucinations, or disorganized speech maintains the resem­blance of the modern- day diagnosis to that first described by the clinician Emil Kraepelin over a century ago. Kraepelin’s discovery that schizophrenia is marked by a chronic and gradually worsening course is seen in modern- day criteria as well. A DSM-5 diagnosis of schizophrenia requires continuous signs of illness for at least 6 months, during which the individual must show at least 1 month of active symptoms (less if well treated). The diagnosis also requires social or work deterioration over a signifi­cant amount of time. Lastly, the diagnosis requires that the observed symptoms are not due to some other medical condition, including other psychiatric disorders such as bipolar disorder or major depressive disorder.


2018 ◽  
Vol 25 (8) ◽  
pp. 1092-1101 ◽  
Author(s):  
José MA Wijnands ◽  
Feng Zhu ◽  
Elaine Kingwell ◽  
Yinshan Zhao ◽  
Okechukwu Ekuma ◽  
...  

Background: The multiple sclerosis (MS) prodrome is poorly characterized. Objective: To phenotype the MS prodrome via health care encounters. Methods: Using data from a population-based cohort study linking administrative and clinical data in four Canadian provinces, we compared physician and hospital encounters and prescriptions filled (via International Classification of Diseases chapters, physician specialty or drug classes) for MS subjects in the 5 years before the first demyelinating claim in an administrative cohort or the clinical symptom onset in an MS clinic-derived cohort, to age-, sex- and geographically matched controls. Rate ratios (RRs), 95% confidence intervals (95% CIs) and proportions were estimated. Results: The administrative and clinical cohorts included 13,951/66,940 and 3202/16,006 people with and without MS (cases/controls). Compared to controls, in the 5 years before the first demyelinating claim or symptom onset, cases had more physician and hospital encounters for the nervous (RR (range) = 2.31; 95% CI: 1.05–5.10 to 4.75; 95% CI: 3.11–7.25), sensory (RR (range) = 1.40; 95% CI: 1.34–1.46 to 2.28; 95% CI: 1.72–3.02), musculoskeletal (RR (range) = 1.19; 95% CI: 1.07–1.33 to 1.70; 95% CI: 1.57–1.85) and genito-urinary systems (RR (range) = 1.17; 95% CI: 1.05–1.30 to 1.59; 95% CI: 1.48–1.70). Cases had more psychiatrist and urologist encounters (RR (range) = 1.48; 95% CI: 1.36–1.62 to 1.80; 95% CI: 1.61–2.01), and higher proportions of musculoskeletal, genito-urinary or hormonal-related prescriptions (1.1–1.5 times higher, all p < 0.02). However, cases had fewer pregnancy-related encounters than controls (RR = 0.78; 95% CI: 0.71–0.86 to 0.88; 95% CI: 0.84–0.92). Conclusion: Phenotyping the prodrome 5 years before clinical recognition of MS is feasible.


10.2196/14863 ◽  
2019 ◽  
Vol 21 (8) ◽  
pp. e14863 ◽  
Author(s):  
Luciana Midaglia ◽  
Patricia Mulero ◽  
Xavier Montalban ◽  
Jennifer Graves ◽  
Stephen L Hauser ◽  
...  

Background Current clinical assessments of people with multiple sclerosis are episodic and may miss critical features of functional fluctuations between visits. Objective The goal of the research was to assess the feasibility of remote active testing and passive monitoring using smartphones and smartwatch technology in people with multiple sclerosis with respect to adherence and satisfaction with the FLOODLIGHT test battery. Methods People with multiple sclerosis (aged 20 to 57 years; Expanded Disability Status Scale 0-5.5; n=76) and healthy controls (n=25) performed the FLOODLIGHT test battery, comprising active tests (daily, weekly, every two weeks, or on demand) and passive monitoring (sensor-based gait and mobility) for 24 weeks using a smartphone and smartwatch. The primary analysis assessed adherence (proportion of weeks with at least 3 days of completed testing and 4 hours per day passive monitoring) and questionnaire-based satisfaction. In-clinic assessments (clinical and magnetic resonance imaging) were performed. Results People with multiple sclerosis showed 70% (16.68/24 weeks) adherence to active tests and 79% (18.89/24 weeks) to passive monitoring; satisfaction score was on average 73.7 out of 100. Neither adherence nor satisfaction was associated with specific population characteristics. Test-battery assessments had an at least acceptable impact on daily activities in over 80% (61/72) of people with multiple sclerosis. Conclusions People with multiple sclerosis were engaged and satisfied with the FLOODLIGHT test battery. FLOODLIGHT sensor-based measures may enable continuous assessment of multiple sclerosis disease in clinical trials and real-world settings. Trial Registration ClinicalTrials.gov: NCT02952911; https://clinicaltrials.gov/ct2/show/NCT02952911


2008 ◽  
Vol 14 (4) ◽  
pp. 522-529 ◽  
Author(s):  
X Li ◽  
K Hemminki ◽  
K Sundquist

Objective The aim of this study was to investigate possible associations between hospitalization for multiple sclerosis (MS) and region, socioeconomic status and occupation. Methods A nationwide database was constructed by linking Swedish Census data to the Hospital Discharge Register (1987–2001). The hospital diagnoses of MS were based on the International Classification of Diseases. Standardized incidence ratios (SIRs) with 95% confidence intervals were calculated. Results Significantly increased or decreased risks of hospitalization for MS were found for individuals living in some counties. The overall SIRs for hospitalizations for MS were close to unity between different socioeconomic groups. Male religious workers, male postal workers and female administrators who had the same occupational title in two consecutive censuses had substantially higher risks of hospitalization for MS than the reference group. However, no increased risks were found for most occupational groups. Conclusions The present study suggests that region, socioeconomic status and occupation have a minor effect on the population’s risk of hospitalization for MS.


2018 ◽  
Vol 74 (8) ◽  
pp. 1310-1315
Author(s):  
Trevor A Lentz ◽  
Nicole M Marlow ◽  
Jason M Beneciuk ◽  
Roger B Fillingim ◽  
Steven Z George

Abstract Background Treatment of musculoskeletal pain in older adults may be more effective if it incorporates integrated management of comorbid health conditions. The purpose of this study was to define empirically derived comorbidity subgroups among Medicare beneficiaries with an index condition of osteoarthritis (OA) or low back pain (LBP) as a precursor to the development of comorbidity-specific pain treatment pathways. Methods This study included Medicare beneficiaries participating in the Medicare Current Beneficiary Survey (MCBS) and seeking care for OA (n = 723) or LBP (n = 617) with data available for 3 years after entry into the survey. We identified 30 comorbidity diagnoses using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) diagnostic codes in claims data during beneficiaries’ first year in the survey. Latent class analysis defined comorbidity subgroups, and posterior probabilities were used to assign subgroup classification. Self-reported disability was compared over three consecutive years for each subgroup. Results We identified similar comorbidity subgroups for OA and LBP. The subgroups included (range of percent prevalence) low comorbidity (47.6%–54.4%), nonvascular (21.8%–28.6%), diabetes (12.2%–15.0%), renal disease with complicated hypertension (5.5%–5.8%), and complex cardiac disease/high comorbidity (3.3%–5.8%). OA and LBP subgroups with more complex comorbidity burden generally demonstrated higher disability over 3 years. Conclusions Five comorbidity subgroups were identified, with a large proportion of older adults classified into the subgroup defined by a low probability of most comorbidities. These findings provide direction for the development of pain treatment pathways that are tailored to address common comorbidity profiles among older adults.


2018 ◽  
Vol 8 (9) ◽  
pp. 168 ◽  
Author(s):  
Rikinkumar Patel ◽  
Sanya Virani ◽  
Hina Saeed ◽  
Sai Nimmagadda ◽  
Jupi Talukdar ◽  
...  

Background: Past studies have evaluated the association of various comorbidities with bipolar disorder. This study analyzes differences in the prevalence and association of medical and psychiatric comorbidities in bipolar patients by gender. Methods: A retrospective analysis was conducted using the Nationwide Inpatient Sample (2010–2014). Using International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) codes, we narrowed the study population to comprise those with a primary diagnosis of bipolar disorder and then obtained information about comorbidities. The differences in comorbidities by gender were quantified using chi-square tests and the logistic regression model (odds ratio (OR)). Results: Hypertension (20.5%), asthma (12.5%) and hypothyroidism (8.1%) were the top medical comorbidities found in bipolar patients. Migraine and hypothyroidism were seen three times higher in females (OR = 3.074 and OR = 3.001; respectively). Females with bipolar disorder had higher odds of comorbid inflammatory disorders like asthma (OR = 1.755), Crohn’s disease (OR = 1.197) and multiple sclerosis (OR = 2.440) compared to males. Females had a two-fold higher likelihood of comorbid post-traumatic stress disorder (PTSD) (OR = 2.253) followed by personality disorders (OR = 1.692) and anxiety disorders (OR = 1.663) compared to males. Conclusion: Women with bipolar disorder have a much higher medical comorbidity burden than men and may highly benefit from an integrated team of physicians to manage their condition and improve their health-related quality of life.


2016 ◽  
Vol 37 (11) ◽  
pp. 1331-1336 ◽  
Author(s):  
Andrew F. Shorr ◽  
Marya D. Zilberberg ◽  
Li Wang ◽  
Onur Baser ◽  
Holly Yu

OBJECTIVETo examine attributable mortality and costs of Clostridium difficile infection (CDI) in the Medicare population.DESIGNA population-based cohort study among US adults aged at least 65 years in the 2008–2010 Medicare 5% sample, with follow-up of 12 months.PATIENTSIncident CDI episode was defined by the International Classification of Diseases, Ninth Revision, Clinical Modification code of 008.45 and no other occurrences within the preceding 12 months. To quantify the adjusted mortality and costs we developed a 1:1 propensity-matched sample of CDI and non-CDI patients.RESULTSAmong 1,165,165 patients included, 6,838 (0.6%) had a CDI episode in 2009 (82.5% healthcare-associated). Patients with CDI were older (mean [SD] age, 81.0±8.0 vs 77.0±7.7 years, P<.001), were more likely to come from the Northeast (27.4% vs 18.6%, P<.001), and had a higher comorbidity burden (Charlson score, 4.6±3.3 vs 1.7±2.1, P<.001). Hospitalizations (63.2% vs 6.0%, P<.001) and antibiotics (33.9% vs 12.5%, P<.001) within the prior 90 days were more common in the group with CDI. In the propensity-adjusted analysis, CDI was associated with near doubling of both mortality (42.6% vs 23.4%, P<.001) and total healthcare costs ($64,807±$66,480 vs $38,128±$46,485, P<.001).CONCLUSIONSAmong elderly patients, CDI is associated with an increase in adjusted mortality and healthcare costs following a CDI episode. Nationwide annually this equals 240,000 patients with CDI, 46,000 potential deaths, and more than $6 billion in costs.Infect Control Hosp Epidemiol 2016;1–6


Author(s):  
Jessica W. M. Wong ◽  
Friedrich M. Wurst ◽  
Ulrich W. Preuss

Abstract. Introduction: With advances in medicine, our understanding of diseases has deepened and diagnostic criteria have evolved. Currently, the most frequently used diagnostic systems are the ICD (International Classification of Diseases) and the DSM (Diagnostic and Statistical Manual of Mental Disorders) to diagnose alcohol-related disorders. Results: In this narrative review, we follow the historical developments in ICD and DSM with their corresponding milestones reflecting the scientific research and medical considerations of their time. The current diagnostic concepts of DSM-5 and ICD-11 and their development are presented. Lastly, we compare these two diagnostic systems and evaluate their practicability in clinical use.


Author(s):  
Timo D. Vloet ◽  
Marcel Romanos

Zusammenfassung. Hintergrund: Nach 12 Jahren Entwicklung wird die 11. Version der International Classification of Diseases (ICD-11) von der Weltgesundheitsorganisation (WHO) im Januar 2022 in Kraft treten. Methodik: Im Rahmen eines selektiven Übersichtsartikels werden die Veränderungen im Hinblick auf die Klassifikation von Angststörungen von der ICD-10 zur ICD-11 zusammenfassend dargestellt. Ergebnis: Die diagnostischen Kriterien der generalisierten Angststörung, Agoraphobie und spezifischen Phobien werden angepasst. Die ICD-11 wird auf Basis einer Lebenszeitachse neu organisiert, sodass die kindesaltersspezifischen Kategorien der ICD-10 aufgelöst werden. Die Trennungsangststörung und der selektive Mutismus werden damit den „regulären“ Angststörungen zugeordnet und können zukünftig auch im Erwachsenenalter diagnostiziert werden. Neu ist ebenso, dass verschiedene Symptomdimensionen der Angst ohne kategoriale Diagnose verschlüsselt werden können. Diskussion: Die Veränderungen im Bereich der Angsterkrankungen umfassen verschiedene Aspekte und sind in der Gesamtschau nicht unerheblich. Positiv zu bewerten ist die Einführung einer Lebenszeitachse und Parallelisierung mit dem Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Schlussfolgerungen: Die entwicklungsbezogene Neuorganisation in der ICD-11 wird auch eine verstärkte längsschnittliche Betrachtung von Angststörungen in der Klinik sowie Forschung zur Folge haben. Damit rückt insbesondere die Präventionsforschung weiter in den Fokus.


Author(s):  
Nicolas Arnaud ◽  
Rainer Thomasius

Zusammenfassung. Der Beitrag informiert über die Eingliederung der Suchtstörungen in die 11. Auflage der International Classification of Diseases (ICD-11) der Weltgesundheitsorganisation (WHO). Die Revision der ICD soll einem gewandelten Verständnis der Suchtstörungen und deren Diagnostik Rechnung tragen und die klinische Anwendbarkeit vereinfachen. Im Bereich der substanzbezogenen und nicht substanzbezogenen Störungen sind gegenüber der Vorgängerversion erhebliche Neuerungen eingeführt worden. Die wichtigsten Änderungen betreffen ein erweitertes Angebot an Stoffklassen, deutliche (vereinfachende) Anpassungen in den konzeptuellen und diagnostischen Leitlinien der substanzbezogenen Störungsbilder und insbesondere der „Abhängigkeit“, sowie die Einführung der Kategorie der „abhängigen Verhaltensweisen“ und damit verbunden die Zuordnung der „Glücksspielstörung“ zu den Suchtstörungen sowie die Aufnahme der neuen (bildschirmbezogenen) „Spielstörung“. Zudem findet eine Erweiterung der diagnostischen Optionen für frühe, präklinische Phänotypen der Suchtstörungen („Episodisch Schädlicher Gebrauch“) erstmals Eingang in den ICD-Katalog. Im vorliegenden Beitrag werden die Änderungen Episodisch schädlicher Gebrauch für den Bereich der Suchtstörungen aus kinder- und jugendpsychiatrischer Sicht zusammenfassend dargestellt und diskutiert.


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