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1.
Neuroepidemiology ; 57(5): 336-344, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37549643

RESUMO

INTRODUCTION: Health administrative databases are widely used for the estimation of the prevalence of Parkinson's disease (PD). Few in general, and none used in Italy, have been validated by testing their diagnostic accuracy. The primary objective was to validate two algorithms for the identification of persons with PD using clinical diagnosis as the reference standard on an Italian sample of people with PD. The second objective was to estimate 10-year trends in PD prevalence in the Bologna Local Health Trust from 2010 to 2019. METHODS: Two algorithms (index tests) applied to health administrative databases (hospital discharge, drug prescriptions, exemptions for medical costs) were validated against clinical diagnosis of PD by an expert neurologist (reference standard) in a cohort of consecutive outpatients. Sensitivity and specificity with relative 95% confidence intervals (CIs) were calculated. The prevalence of PD in a specific year was estimated as the ratio between the number of subjects fulfilling any criteria of the algorithm with better diagnostic accuracy and the total population in the same year (×1,000), stratified by age, sex, and district of residence. RESULTS: The two algorithms showed high accuracy for identifying patients with PD: one with greater sensitivity of 94.2% (CI: 88.4-97.6) and the other with greater specificity of 98.1% (CI: 97.7-98.5). For the estimation of prevalence, we chose the most specific algorithm with the fewest total number of misclassified cases. We identified 3,798 people with PD as of December 31, 2019, corresponding to a prevalence of 4.3 per 1,000 inhabitants (CI: 4.2-4.4). Prevalence was higher in males (4.7, CI: 4.5-5.0) than females (3.8, CI: 3.7-4.0) and increased with age. The crude prevalence over time was slightly elevated as it followed a progressive aging of the population. When stratifying the prevalence for age groups, we did not observe a trend except in the 45-64 year category where we observed an increasing trend over time. CONCLUSION: Algorithms based on administrative data are accurate when detecting people with PD in the Italian public health system. In a large northern Italian population, increased prevalence of about 10% was observed in the decade 2010-2019 and is explained by increased life expectancy. These data may be useful in planning the allocation of health care resources for people with PD.


Assuntos
Doença de Parkinson , Feminino , Masculino , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Prevalência , Itália/epidemiologia , Algoritmos , Bases de Dados Factuais
2.
Epilepsia ; 63(9): 2279-2289, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35778963

RESUMO

OBJECTIVE: Data on COVID-19 outcomes in persons with epilepsy (PWE) are scarce and inconclusive. We aimed to study the risk of hospitalization and death for COVID-19 in a large cohort of PWE from March 1, 2020 to October 31, 2021. METHODS: The historical cohort design (EpiLink Bologna) compared adult PWE grouped into people with focal epilepsy (PFE), idiopathic generalized epilepsy (PIGE), and developmental and/or epileptic encephalopathy (PDEE), and a population cohort matched (ratio 1:10) for age, sex, residence, and comorbidity (assessed with the multisource comorbidity score), living in the local health trust of Bologna (approximately 800 000 residents). Clinical data were linked to health administrative data. RESULTS: In both cohorts (EpiLink: n = 1575 subjects, 1128 PFE, 267 PIGE, 148 PDEE, 32 other; controls: n = 15 326 subjects), 52% were females, and the mean age was 50 years (SD = 18). Hospital admissions for COVID-19 in the whole period were 49 (3.1%) in PWE and 225 (1.5%) in controls. The adjusted hazard ratio (aHR) in PWE was 1.9 (95% confidence interval [CI] = 1.4-2.7). The subgroups at higher risk were PFE (aHR = 1.9, 95% CI = 1.3-2.8) and PDEE (aHR = 3.9, 95% CI = 1.7-8.7), whereas PIGE had a risk comparable to the controls (aHR = 1.1, 95% CI = .3-3.5). Stratified analyses of the two main epidemic waves (March-May 2020, October 2020-May 2021) disclosed a higher risk of COVID-19-related hospitalization during the first epidemic wave (March-May 2020; aHR = 3.8, 95% CI = 2.2-6.7). Polytherapy with antiseizure medications contributed to a higher risk of hospital admission. Thirty-day risk of death after hospitalization was 14% in both PWE and controls. SIGNIFICANCE: During the first 20 months since the outbreak of COVID-19 in Bologna, PWE had a doubled risk of COVID-19 hospital admission compared to a matched control population. Conversely, epilepsy did not represent a risk factor for COVID-19-related death.


Assuntos
COVID-19 , Epilepsia , Adulto , COVID-19/epidemiologia , Estudos de Coortes , Comorbidade , Epilepsia/epidemiologia , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade
3.
Eur J Neurol ; 2022 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-35841385

RESUMO

BACKGROUND: The patterns of long term risk of SARS-CoV-2 infection, hospitalization for COVID-19 and related death are uncertain in people with Parkinson's disease (PD) or parkinsonism (PS). The aim of the study was to quantify these risks compared to a control population cohort, during the period March 2020-May 2021, in Bologna, northern Italy. METHOD: ParkLink Bologna cohort (759 PD; 192 PS) and controls (9,226) anonymously matched (ratio 1:10) for sex, age, district, comorbidity were included. Data were analysed in the whole period and in the two different pandemic waves (March-May 2020 and October 2020-May 2021). RESULTS: Adjusted hazard ratio of SARS-CoV-2 infection was 1.3 (95% CI 1.04-1.7) in PD and 1.9 (1.3-2.8) in PS compared to the controls. The trend was detected in both the pandemic waves. Adjusted hazard ratio of hospitalization for COVID-19 was 1.1 (95% CI 0.8-1.7) in PD and 1.8 (95% CI 0.97-3.1) in PS. A higher risk of hospital admission was detected in PS only in the first wave. The 30-day mortality risk after hospitalization was higher (p=0.048) in PS (58%) than in PD (19%) and controls (26%). CONCLUSIONS: Compared with controls, after adjustment for key covariates, people with PD and PS showed a higher risk of SARS-CoV-2 infection throughout the first 15 months of the pandemic. COVID-19 hospitalization risk was increased only in people with PS and only during the first wave. This group of patients was burdened by a very high risk of death after infection and hospitalization.

4.
BMC Psychiatry ; 18(1): 179, 2018 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-29879925

RESUMO

BACKGROUND: People with psychotic illness suffer from reduced quality of life and often from an insufficient level of social inclusion. These variables are associated with several negative outcomes, such as higher neuro-cognitive deficits, negative symptoms, internalised stigma, increased cardiovascular risk and, most importantly, excess mortality. To date, only a minority of social interventions in psychosis have been investigated. Since 2011, the Department of Mental Health and Substance Abuse in Modena introduced the "Social Point" program, which provides social inclusion interventions to promote active social participation for patients suffering from severe mental illness. The aim of this study was to assess whether a social inclusion intervention is associated with better outcomes in terms of personal and social recovery, with particular reference to the areas of social functioning and activity, and subjective dimensions such as self-esteem, self-stigma and perceived quality of life. METHODS: A cross-sectional design was adopted to compare 30 subjects, selected at the completion of "Social Point" program, with a group of subjects, matched for socio-demographic and clinical features, selected from a wait list for "Social Point". All subjects were evaluated by means of instruments assessing: level of disability, level of functioning, severity of psychopathology, self-esteem, internalised stigma and quality of life. RESULTS: Overall, the results of the study suggest that social inclusion interventions may be effective in people suffering from non-affective psychosis. A dose-effect relationship was also found between higher number of activities per patient and better outcomes within both social and psychopathological domains. However, due to the cross-sectional design of the study no definitive causality can be inferred. CONCLUSION: Psychosocial interventions promoting social inclusion are likely to represent an effective approach to improve personal and social recovery.


Assuntos
Transtornos Psicóticos/terapia , Participação Social , Adulto , Estudos Transversais , Mecanismos de Defesa , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicóticos/psicologia , Qualidade de Vida , Autoimagem , Ajustamento Social , Estigma Social
5.
Soc Psychiatry Psychiatr Epidemiol ; 53(3): 249-257, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29273912

RESUMO

PURPOSE: People with mental disorders show mortality rates up to 22.2 times higher than that of the general population. In spite of progressive increase in life expectancy observed in the general population, the mortality gap of people suffering from mental health problems has gradually widened. The aim of this paper was to study mortality rates in people suffering from mental illness in a cohort of people (16,981 subjects) in the local mental health register of the province of Modena during the decade 2006-2015. METHODS: Standardized Mortality Ratios (SMRs) were calculated to compare the mortality of people with mental disorders to the mortality of people living in the province of Modena and the excess of mortality was studied in relation to the following variables: gender, age group, diagnosis and causes of death. In addition, Poisson regression analysis was performed to study the association between patient characteristics and mortality. RESULTS: An overall excess mortality of 80% was found in subjects under the care of mental health services as compared to the reference population (SMR = 1.8, 95% CI 1.7-1.9). Subjects in the 15-44 year group presented the highest SMR (9.2, 95% CI 6.9-11.4). The most prevalent cause of death was cancer (28.1% of deaths). At the Poisson regression, the diagnosis "Substance abuse and dependence" showed the highest relative risk (RR) (4.00). Moreover, being male, single, unemployed and with a lower qualification was associated with higher RRs. CONCLUSIONS: Our study confirms that subjects with mental illness have higher SMR. Noteworthy, the overall higher risk of mortality was observed in the younger age group.


Assuntos
Transtornos Mentais/mortalidade , Adulto , Idoso , Causas de Morte , Estudos de Coortes , Feminino , Humanos , Itália/epidemiologia , Expectativa de Vida , Masculino , Pessoa de Meia-Idade , Neoplasias/mortalidade , Distribuição de Poisson , Prevalência , Sistema de Registros , Análise de Regressão , Risco , Transtornos Relacionados ao Uso de Substâncias/mortalidade
6.
J Clin Med ; 13(9)2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38731025

RESUMO

Background: Epileptic encephalopathies (EE) are characterized by severe drug-resistant seizures, early onset, and unfavorable developmental outcomes. This article discusses the use of intravenous methylprednisolone (IVMP) pulse therapy in pediatric patients with EE to evaluate its efficacy and tolerability. Methods: This is a retrospective study from 2020 to 2023. Inclusion criteria were ≤18 years at the time of IVMP pulse therapy and at least 6 months of follow-up. Efficacy and outcome, defined as seizure reduction > 50% (responder rate), were evaluated at 6 and 9 months of therapy, and 6 months after therapy suspension; quality of life (QoL) was also assessed. Variables predicting positive post-IVMP outcomes were identified using statistical analysis. Results: The study included 21 patients, with a responder rate of 85.7% at 6 and 9 months of therapy, and 80.9% at 6 months after therapy suspension. Variables significantly predicting favorable outcome were etiology (p = 0.0475) and epilepsy type (p = 0.0475), with the best outcome achieved in patients with genetic epilepsy and those with encephalopathy related to electrical status epilepticus during slow-wave sleep (ESES). All patients evidenced improvements in QoL at the last follow-up, with no relevant adverse events reported. Conclusions: Our study confirmed the efficacy and high tolerability of IVMP pulse therapy in pediatric patients with EE. Genetic epilepsy and ESES were positive predictors of a favorable clinical outcome. QOL, EEG tracing, and postural-motor development showed an improving trend as well. IVMP pulse therapy should be considered earlier in patients with EE.

7.
Sci Rep ; 14(1): 11837, 2024 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-38783152

RESUMO

Narcolepsy type 1 (NT1) is a chronic neurological disorder characterized by symptoms such as excessive daytime sleepiness, sudden sleep episodes, disrupted nocturnal sleep, cataplexy, sleep paralysis, and hypnagogic hallucinations, which significantly impact the overall well-being and quality of life of individuals. While psychological factors have gained attention, there is limited research on the coping strategies employed by patients with NT1 and their association with quality of life. This study aimed to compare coping strategies in patients with NT1 and controls, as well as assess the relationship between coping strategies and quality of life in patients with NT1. A total of 122 individuals diagnosed with NT1 and 138 controls were enrolled in this cross-sectional study. Participants completed questionnaires assessing coping strategies and health-related quality of life. A Mann-Whitney U test was conducted to compare the use of different coping strategies by patients with NT1 and controls. Spearman's rho correlation was performed to examine the association between coping strategies and quality of life in the NT1 group. Results showed that patients with NT1 exhibited differences in the use of coping strategies compared to controls. They reported lower use of active coping, planning, instrumental, and emotional social support, and higher use of behavioral and mental disengagement. Denial and behavioral disengagement were significantly and negatively associated with quality of life. Identifying coping strategies and their association with quality of life may aid in the development of tailored interventions aimed at improving the adoption of effective coping strategies and reducing the use of maladaptive coping strategies.


Assuntos
Adaptação Psicológica , Narcolepsia , Qualidade de Vida , Humanos , Narcolepsia/psicologia , Masculino , Feminino , Adulto , Estudos Transversais , Inquéritos e Questionários , Pessoa de Meia-Idade , Adulto Jovem , Estudos de Casos e Controles , Apoio Social , Capacidades de Enfrentamento
8.
Brain Sci ; 14(6)2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38928524

RESUMO

BACKGROUND: This work aimed to study the Village Test (VT) in a group of patients with Alzheimer's disease (AD) and compare the results with those of a group of patients with mild cognitive impairment (MCI) and controls. METHODS: A total of 50 patients with AD, 28 patients with MCI, and 38 controls were evaluated. All participants underwent the VT and an extensive neuropsychological evaluation. RESULTS: The mean ages of the participants were 74.4 years for those with AD, 74 for those with MCI, and 70.2 for the controls. The AD group built smaller and essential villages with a scarce use of pieces, a poor use of dynamic pieces, and scarce use of human figures. All constructions were often concentrated in the center of the table. CONCLUSIONS: The villages built by the AD group represent a cognitive and affective coarctation and indicate a sense of existential disorientation and isolation. The VT is a useful aid for getting in touch with the inner emotional and existential states of patients with AD, and it could represent a complementary screening tool for orienting cognitive impairment diagnoses.

9.
Mult Scler Relat Disord ; 80: 105094, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37913675

RESUMO

BACKGROUND: Multiple Sclerosis (MS) is a chronic inflammatory disease of the central nervous system requiring complex diagnostic and therapeutic management. Treatment with Disease Modifying Drugs (DMDs) is aimed at reducing relapse rate and disease disability. Few real-world, population-based data are available on the impact of adherence on relapse rate. The objective of this study was to assess the impact of adherence to DMDs on relapses in a real-world Italian setting. METHODS: Population-based cohort study. People with MS (PwMS) older than 18 years and residing in the Emilia-Romagna region, Northern Italy, were identified through administrative databases using a validated algorithm. A Cox regression model with a time-varying exposure was performed to assess the association between level of adherence to DMDs and relapses over a 5-year period. RESULTS: A total of 2,528 PwMS receiving a first prescription of DMDs between 2015 and 2019 were included (average age of 42, two-thirds female). Highly adherent PwMS had a 25 % lower hazard of experiencing moderate or severe relapses than non-adherent PwMS (Hazard Ratio 0.75, 95 % CI 0.58 to 0.98), after adjusting for age and sex. Several sensitivity analyses supported the main result. CONCLUSION: The results of our study support the hypothesis that a high level of DMD adherence in MS is associated with a lower risk of moderate or severe relapse. Therefore, choosing the DMD with which to start drug treatment and recommending adherence to treatment appear to be crucial aspects involving both physicians and patients.


Assuntos
Esclerose Múltipla , Humanos , Feminino , Adulto , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/epidemiologia , Estudos de Coortes , Recidiva , Itália
10.
J Neurol ; 270(6): 2975-2986, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36800019

RESUMO

BACKGROUND: Immune checkpoint inhibitors (ICIs) represent an effective cancer immunotherapy yet are associated with immune-related adverse events (irAEs). The aim of this study was to characterize irAEs involving the peripheral nervous system (PNS-irAEs) in a real-world cohort of ICI-treated patients. METHODS: Cancer patients treated with ICIs between January 2014 and March 2022 were included. Patients with PNS-irAEs were identified and divided into two groups: (1) cranial/peripheral neuropathies and (2) myasthenia gravis (MG) and/or myositis. Clinical characteristics and outcomes, measured with the modified Rankin Scale (mRS), were compared among the two groups. RESULTS: Among 920 ICI-treated patients, 20 patients (2.17%) developed a PNS-irAEs. The median latency from ICI exposure was 8.8 weeks and the median time from onset to clinical nadir was 3.5 weeks. Eleven patients developed a neuropathy: polyneuropathy (n = 4), cranial neuropathy (n = 3), small-fiber neuropathy (n = 3), brachial plexopathy (n = 1). Nine patients presented MG and/or myositis: concomitant MG and myositis (n = 6), isolated myositis (n = 2), exacerbation of MG (n = 1). Immunosuppressive treatment and/or ICI withdrawal determined a significant clinical improvement, expressed by a mRS reduction, in the neuropathy group (p = 0.004), but not in the MG/myositis group (p = 0.11). Overall, death due to irAEs occurred in four patients (20%), all with MG/myositis. Compared to patients with neuropathies, those with MG/myositis had a shorter latency onset (p = 0.036), developed more frequently concomitant non-neurologic irAEs (p = 0.028) and showed a higher mortality rate (p = 0.026). CONCLUSIONS: In our large cohort of ICI-treated patients, 2.17% developed PNS-irAEs. Compared to ir-neuropathies, ir-MG/myositis tend to occur earlier from ICI exposure and present a worse response to treatment and a higher mortality.


Assuntos
Miastenia Gravis , Miosite , Neoplasias , Doenças do Sistema Nervoso Periférico , Humanos , Inibidores de Checkpoint Imunológico/efeitos adversos , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Neoplasias/tratamento farmacológico , Miastenia Gravis/induzido quimicamente , Miastenia Gravis/tratamento farmacológico , Sistema Nervoso Periférico , Miosite/induzido quimicamente
11.
Ann Clin Transl Neurol ; 10(6): 918-932, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37088544

RESUMO

OBJECTIVE: In Alzheimer's disease (AD), the presence of circadian dysfunction is well-known and may occur early in the disease course. The melanopsin retinal ganglion cell (mRGC) system may play a relevant role in contributing to circadian dysfunction. In this study, we aimed at evaluating, through a multimodal approach, the mRGC system in AD at an early stage of disease. METHODS: We included 29 mild-moderate AD (70.9 ± 11 years) and 26 (70.5 ± 8 years) control subjects. We performed an extensive neurophtalmological evaluation including optical coherence tomography with ganglion cell layer segmentation, actigraphic evaluation of the rest-activity rhythm, chromatic pupillometry analyzed with a new data-fitting approach, and brain functional MRI combined with light stimuli assessing the mRGC system. RESULTS: We demonstrated a significant thinning of the infero-temporal sector of the ganglion cell layer in AD compared to controls. Moreover, we documented by actigraphy the presence of a circadian-impaired AD subgroup. Overall, circadian measurements worsened by age. Chromatic pupillometry evaluation highlighted the presence of a pupil-light response reduction in the rod condition pointing to mRGC dendropathy. Finally, brain fMRI showed a reduced occipital cortex activation with blue light particularly for the sustained responses. INTERPRETATION: Overall, the results of this multimodal innovative approach clearly document a dysfunctional mRGC system at early stages of disease as a relevant contributing factor for circadian impairment in AD providing also support to the use of light therapy in AD.


Assuntos
Doença de Alzheimer , Células Ganglionares da Retina , Humanos , Doença de Alzheimer/diagnóstico por imagem , Retina , Opsinas de Bastonetes
12.
Am J Alzheimers Dis Other Demen ; 37: 15333175221129381, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36317413

RESUMO

OBJECTIVE: To study the evolution of the Tree Drawing Test (TDT) in a group of Alzheimer's disease (AD) patients. METHODS: A total of 33 AD patients were consecutively evaluated by Mini Mental State Evaluation (MMSE) and TDT. The evolution of the TDT parameters, trunk-to-crown (TC) and space occupation (SO) index, were analyzed. RESULTS: The median age at first visit was 79 years. Globally, trees drawn by patients showed an evolution characterized by a progressive reduction of the crown compared to the trunk. TC index showed a significant linear growth change (2.52 points per year) while SO index did not significantly increase. No significant associations were found examining the relations between MMSE and TC and SO index. CONCLUSIONS: TDT could represent a complementary technique to the main neuropsychological screening tests for orienting cognitive impairment diagnosis and an aid in following the evolution of cognitive impairment over time in AD patients.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Idoso , Humanos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/psicologia , Estudos Longitudinais , Testes Neuropsicológicos
13.
Front Neurol ; 13: 873925, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35651337

RESUMO

Background: The indirect impact of the COVID-19 epidemic on major clinical outcomes of people with Parkinson's disease (PD) or other parkinsonism is unknown. Objectives: The study aimed to (1) describe changes in healthcare services during the first epidemic bout in people with PD or parkinsonism; (2) compare the occurrence of hospitalization for any PD-related major clinical outcomes in 2020 with 2019; (3) investigate the factors, including changes in healthcare services, associated with major clinical outcomes and death. Methods: All healthcare services of the province of Bologna and major clinical outcomes were assessed through a record linkage study (ParkLink Bologna) using clinical data and health databases. Same analyses were performed in a random cohort of controls matched for age, sex, district of residence, and comorbidities with the ParkLink cohort (ratio of 1:10). Results: A cohort of subjects with PD (759) or other parkinsonism (192) was included together with a cohort of controls (9,226). All indicators of healthcare services dropped at least below 50% during the lockdown period in all cohorts, mostly impacting physiotherapy in people with PD (-93%, 95% CI 88-96%). In 2020, compared to 2019, a three-fold risk of major injuries (RR 3.0, 95% CI 1.5-6.2) and infections (RR 3.3, 95% CI 1.5-7.2), excluding COVID-19, was observed only in people with PD, and neither in people with parkinsonism nor in controls. Decreased physiotherapy was associated with the occurrence of at least one major clinical outcome (OR 3.3, 95% CI 1.1-9.8) in people with PD. Experiencing at least one major clinical outcome was the strongest risk factor for death (OR 30.4, 95% CI 11.1-83.4) in people with PD. Conclusions: During the first COVID-19 epidemic peak, healthcare services were drastically reduced in a province of northern Italy, regardless of the disease condition. However, compared to 2019, in 2020, only people with PD had a higher risk of major clinical outcomes, that were associated with higher mortality. Strategies to maintain physical activity in people with PD should be implemented in possible future health emergencies.

14.
Front Genet ; 13: 953762, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36419830

RESUMO

Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one end, to polygenic risk given by thousands of common variants with small effects at the other end. The mitochondrial DNA (mtDNA) was also proposed as a genetic modifier for ASD, mostly focusing on maternal mtDNA, since the paternal mitogenome is not transmitted to offspring. We extensively studied the potential contribution of mtDNA in ASD pathogenesis and risk through deep next generation sequencing and quantitative PCR in a cohort of 98 families. While the maternally-inherited mtDNA did not seem to predispose to ASD, neither for haplogroups nor for the presence of pathogenic mutations, an unexpected influence of paternal mtDNA, apparently centered on haplogroup U, came from the Italian families extrapolated from the test cohort (n = 74) when compared to the control population. However, this result was not replicated in an independent Italian cohort of 127 families and it is likely due to the elevated paternal age at time of conception. In addition, ASD probands showed a reduced mtDNA content when compared to their unaffected siblings. Multivariable regression analyses indicated that variants with 15%-5% heteroplasmy in probands are associated to a greater severity of ASD based on ADOS-2 criteria, whereas paternal super-haplogroups H and JT were associated with milder phenotypes. In conclusion, our results suggest that the mtDNA impacts on ASD, significantly modifying the phenotypic expression in the Italian population. The unexpected finding of protection induced by paternal mitogenome in term of severity may derive from a role of mtDNA in influencing the accumulation of nuclear de novo mutations or epigenetic alterations in fathers' germinal cells, affecting the neurodevelopment in the offspring. This result remains preliminary and needs further confirmation in independent cohorts of larger size. If confirmed, it potentially opens a different perspective on how paternal non-inherited mtDNA may predispose or modulate other complex diseases.

15.
Res Psychother ; 24(2): 554, 2021 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-34568114

RESUMO

There is an increasing need of outcome measures for young people suitable to evaluate treatments and routine settings. However, measures must show suitable psychometric characteristics for such use. This is the first psychometric evaluation of the Italian version of the Core Young Person Clinical Outcomes in Routine Evaluation (YP-CORE). Data are reported for a clinical sample, aged 11-17 (n=175) and non-clinical sample, aged 11-17 (n=206). Analyses included acceptability, confirmatory factor analysis, internal reliability, influence of gender and age on cutoff scores and reliable change. The YP-CORE acceptability was good, with a very high completion rate (98.7% fully completed). Internal consistency was good: the overall Cronbach's alpha value (α) equal to 0.75 (95% confidence interval=0.69-0.80). The measure was sensitive to change (Cohen dz=1.35). The Italian version of the YP-CORE showed acceptable psychometric properties is suitable for use in services for young people as a change/outcome measure.

16.
Early Interv Psychiatry ; 13(4): 1011-1017, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30672134

RESUMO

AIM: To report on the development of an early intervention service in Modena, Italy, with information relevant to the first 4 years of implementation. METHODS: The 2-year service was offered to people aged 18-35 with psychotic manifestations, within 2 years from psychosis onset/or naïve to antipsychotics, by teams placed within community mental health Centres, according to a "specialist within generalist" model. Treatment included pharmacological consultation, psychoeducation and social inclusion programs. Health of the Nation Outcome Scale was administered at baseline and every 6 months. RESULTS: One hundred cases accepted the treatment from 1 March 2013 to 31 December 2016. Of these, 71% were male with a median age of 23. Ninety percent were diagnosed with non-affective psychosis, yielding an estimated treated incidence of 19.1/105 . General practitioners (GPs)represented the most frequent referrers to the program (38%), followed by referrals from acute general and psychiatric hospital units (22%) and self-referrals (14%). Meaningful clinical improvement was observed, 6 months after enrolment. CONCLUSIONS: An early intervention service for psychosis was successfully implemented within existing community outpatient services. GPs represented the main referrals, providing some validation of the "specialist within generalist" model of care. A promising clinical improvement and trend of reduction in duration of untreated psychosis was found, supporting the variety of early detection efforts in the community. The high median age and lack of information about pathways to care underline possible barriers to access for younger patients. These findings will inform refinement of treatments and service models for the Region.


Assuntos
Intervenção Médica Precoce , Transtornos Psicóticos/terapia , Adulto , Assistência Ambulatorial/organização & administração , Terapia Combinada , Centros Comunitários de Saúde Mental/organização & administração , Diagnóstico Precoce , Feminino , Implementação de Plano de Saúde/organização & administração , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/psicologia , Encaminhamento e Consulta/organização & administração , Adulto Jovem
17.
Int J Ment Health Nurs ; 27(3): 1002-1008, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29197134

RESUMO

Despite the call by the scientific community for a systematic monitoring of physical health in people with psychiatric illnesses, national and international audits have reported poor quality of cardiovascular risk assessments and management in this vulnerable population. Available evidence indicates that in people affected by mental illness, life expectancy is reduced by 10-20 years, mainly due to cardiovascular accidents and metabolic syndrome (MetS)-related diseases. The primary aim of the present study was to evaluate the accuracy of cardiovascular risk monitoring in an outpatient sample of patients taking second-generation antipsychotics. The sample consisted of 200 patients consecutively recruited from two community mental health centres. A clinical chart review was performed on the following laboratory tests: total cholesterol, high- and low-density lipoprotein, serum triglycerides, fasting blood glucose, γ-glutamyl transpeptidase. Blood pressure and waist circumference were measured. A complete cardiovascular risk assessment was available only in 60 patients out of 200 (33.3%). The only variable associated with laboratory tests for MetS was receiving three or more psychotropic medications, which increased fourfold the probability of metabolic screening. In the subsample of patients with full screening, the prevalence of MetS was 33.3%. Our findings suggest that mental health professionals working in community mental health services should incorporate a more systematic assessment of physical health in their practice, and intervene proactively to reduce the significant cardiovascular burden carried by people with several mental illness.


Assuntos
Antipsicóticos/uso terapêutico , Doenças Cardiovasculares/etiologia , Transtornos Mentais/complicações , Medição de Risco , Antipsicóticos/efeitos adversos , Glicemia/análise , Pressão Sanguínea , Colesterol/sangue , Feminino , Humanos , Itália , Lipoproteínas HDL/sangue , Lipoproteínas LDL/sangue , Masculino , Transtornos Mentais/tratamento farmacológico , Síndrome Metabólica/etiologia , Pessoa de Meia-Idade , Pacientes Ambulatoriais , Triglicerídeos/sangue , Circunferência da Cintura , gama-Glutamiltransferase/sangue
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