Friedreich's disease: survival analysis in an Italian population

This investigation is the first population-based study of survival in Friedreich's disease (FD). All cases of FD diagnosed between 1945 through 1984 among residents of a defined area of northwestern Italy were ascertained (N = 58). These patients were followed to death or to December 31, 1984 (whichever came first) to determine the patterns of survival. The 10-, 20-, and 30-year survival rates were respectively 96%, 80%, and 61%, suggesting a better prognosis than previously reported. Survival of FD patients was poorer than expected from the general population. Survival for males was poorer than for females even after adjustment for expected survival. Age of onset was not a significant prognostic factor. Survival for patients diagnosed in 1960 or later was better than for those diagnosed before 1960; however, the difference was not statistically significant.     

Risk factors for clinically diagnosed Alzheimer's disease: a case-control study of an Italian population

We conducted a case-control study of 116 patients with the clinical diagnosis of Alzheimer's disease (AD) in seven Italian centers. One hundred sixteen hospital controls and 97 population controls were matched by age, sex, and region of residence to the cases. A structured questionnaire was administered to the next-of-kin of cases and controls by trained interviewers to identify possible risk factors. Genetic, viral, toxic, immunologic, medical, surgical, and personality factors were investigated. Dementia among first- or second-degree relatives and advanced age of the mother at subject's birth (age over 40) were associated with AD. Head trauma was more frequent in cases than in either hospital or population controls, but the differences were not significant. Our data did not confirm the previously reported association with antecedent thyroid disease or family history of Down's syndrome.     

Progression of optic neuritis to multiple sclerosis: a prospective study in an Italian population

We prospectively studied 40 patients with uncomplicated optic neuritis (ON) to determine the risk of subsequent multiple sclerosis (MS). All patients were followed for at least 12 years. Ten patients (25%) developed MS. Seven of these 10 patients developed MS within 2 years. Both sexes were at high risk if ON occurred between the ages of 21 and 40. There was an overall increased risk of MS with recurrent ON. The course of MS appeared to be fairly benign during the period of observation.     

Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study

Healthcare workers experienced high degree of stress during COVID-19. Purpose of the present article is to compare mental health (depressive and Post-Traumatic-Stress-Disorders—PTSD—symptoms) and epigenetics aspects (degree of methylation of stress-related genes) in front-line healthcare professionals versus healthcare working in non-COVID-19 wards. Sixty-eight healthcare workers were included in the study: 39 were working in COVID-19 wards (cases) and 29 in non-COVID wards (controls). From all participants, demographic and clinical information were collected by an ad-hoc questionnaire. Depressive and PTSD symptoms were evaluated by the Patient Health Questionnaire-9 (PHQ-9) and the Impact of Event Scale—Revised (IES-R), respectively. Methylation analyses of 9 promoter/regulatory regions of genes known to be implicated in depression/PTSD (ADCYAP1, BDNF, CRHR1, DRD2, IGF2, LSD1/KDM1A, NR3C1, OXTR, SLC6A4) were performed on DNA from blood samples by the MassARRAY EpiTYPER platform, with MassCleave settings. Controls showed more frequent lifetime history of anxiety/depression with respect to cases (χ² = 5.72, p = 0.03). On the contrary, cases versus controls presented higher PHQ-9 (t = 2.13, p = 0.04), PHQ-9 sleep item (t = 2.26, p = 0.03), IES-R total (t = 2.17, p = 0.03), IES-R intrusion (t = 2.46, p = 0.02), IES-R avoidance (t = 1.99, p = 0.05) mean total scores. Methylation levels at CRHR1, DRD2 and LSD1 genes was significantly higher in cases with respect to controls (p < 0.01, p = 0.03 and p = 0.03, respectively). Frontline health professionals experienced more negative effects on mental health during COVID-19 pandemic than non-frontline healthcare workers. Methylation levels were increased in genes regulating HPA axis (CRHR1) and dopamine neurotransmission (DRD2 and LSD1), thus supporting the involvement of these biological processes in depression/PTSD and indicating that methylation of these genes can be modulated by stress conditions, such as working as healthcare front-line during COVID-19 pandemic.

     

The effects of psychotherapies: a study on patients' perception of results in an Italian public setting

Enquiries centred on the perspective of users of psychiatric treatments and their families, has become an increasingly widespread method to improve the quality of treatments administered by health services. In this study, in particular, we examine the users' perception of the quality and variability of the effects of psychotherapies, the difficulties met, and the perceived help factors. The sample consists of 216 users of psychotherapy and 223 patients in psychiatric treatment with psychological support. They are outpatients, managed by the public health service. The questionnaires included closed ended, open-ended questions and scales that were previously tested on a sample of patients. The questionnaire for patients was anonymous and administered by researchers external to the medical staff. Irrespective of the diagnosis or of a concurrent pharmacological therapy, a high percentage of patients (75%), in both groups, feel improved. Improvement consist of the decrease of symptoms, a sense of feeling better, but also feeling grown up, more mature, having higher self-esteem and feeling more adequate in interpersonal relationships. This last type of result is significantly more frequent in the group of patients in psychotherapy. Besides these patients are faced with more difficulties and play more active a role while they are in treatment. The main difference between patients in psychotherapy and those in psychiatric management with psychological support is not indeed the identification of different perceived therapeutic factors, but rather the different evaluation of their relative importance. On the whole, the study seems to show that the effects of real psychotherapies include, beside an improvement of symptoms, the achievement of goals of personal growth and maturity, self-satisfaction and an increase in self-esteem, all in accordance with a conception of health as well-being and self-satisfaction rather than as absence of illness.     

Suicide rates in relation to health care access in the United States: an ecological study

OBJECTIVE: We tested the hypothesis that suicide rates in the United States are associated with indicators of access to health care services. METHOD: With an ecological study design, we compared age-adjusted suicide rates for men and women with demographic, socioeconomic, and other indices of access to health care, by state (N = 51, including the District of Columbia). The most recently available information from the National Statistics Reports at the U.S. Census Bureau, the U.S. Centers for Disease Control and Prevention National Center for Health Statistics, and the American Board of Medical Specialties was used. Data on suicide are from 2001; other measures were matched for the closest available year, except that state-based data on psychiatrists and physicians are from 2004. RESULTS: Positive bivariate associations with state suicide rates (all p < or = .005) are ranked as follows: male sex, Native American ethnicity, and higher proportion of uninsured residents. Negative bivariate associations (all p < or = .002) are ranked as follows: higher population density, higher annual per capita income, higher population density of psychiatrists, higher population density of physicians, higher federal aid for mental health, and higher proportion of African Americans. All factors were associated with state suicide rates in expected directions. In multivariate models of associations between suicide rates and indices of access to health care, the state rate of federal aid for mental health was the strongest indicator, followed by the rate of uninsured persons and population density of psychiatrists and physicians and by population density. DISCUSSION: Such aggregate analyses cannot specify risk indices for individual persons. Nevertheless, the methods employed detected several factors with well-established associations with suicide. They also yielded strong correlations of state-based suicide rates with proposed indicators of access to health care. The findings support the view that clinical intervention is a crucial element in the prevention of suicide.     

Prevalence and risk factors for tardive dyskinesia: a study in an Italian population of chronic schizophrenics

Summary The aim of this study was to evaluate tardive dyskinesia (TD) (prevalence and possible risk factors, pharmacological and clinical), in a population of schizophrenic patients after prolonged institutionalization. A total of 148 patients (80 male, 68 female) aged between 28 and 87 years (mean 55, SD 11) diagnosed according to DSM III were included in the study and assessed for the presence and severity of TD using the Abbreviated Rockland Simpson Scale for TD. Of the examined population, 32% were found to be affected by TD. Patients over 55 years had a relative risk of TD that was 2.3 times higher than in subjects under 55 (P<0.05). The most frequent movements were orofacial (60%) and in the extremities (56.4%). No significant relationship between duration of neuroleptic treatments, illness or hospitalization, anticholinergic drugs and TD prevalence was found. Severity was related to age, since there was a positive linear relationship between age and Simpson Scale scores (r=0.45,P<0.01).     

Autism and intellectual disability: a study of prevalence on a sample of the Italian population

Background In 1994, the American Association on Mental Retardation with the DSM‐IV has come to a final definition of pervasive developmental disorders (PDD), in agreement with the ICD‐10. Prevalence of PDD in the general population is 0.1–0.15% according to the DSM‐IV. PDD are more frequent in people with severe intellectual disability (ID). There is a strict relationship between ID and autism: 40% of people with ID also present a PDD, on the other hand, nearly 70% of people with PDD also have ID. We believe that in Italy PDD are underestimated because there is no agreement about the classification system and diagnostic instruments. Method Our aim is to assess the prevalence of PDD in the Italian population with ID. The Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD‐MRS) seems to be a very good instrument for classifying and diagnosing PDD. Results The application of the PDD‐MRS and a clinical review of every individual case on a sample of 166 Italian people with ID raised the prevalence of PDD in this population from 7.8% to 39.2%. Conclusions The study confirms the relationship between ID and autism and suggests a new approach in the study of ID in order to elaborate a new integrated model for people with ID.     

Rey-Osterrieth complex figure: normative values in an Italian population sample

The Rey-Osterrieth complex figure test (ROCF) is a neuropsychological test extensively used in clinical practice to investigate visuospatial constructional functions, visuographic memory and some aspects of planning and executive function. The aim of the present study was to collect normative values in an Italian normal population sample (n=280) for the direct copying and delayed (10 min) reproduction of the ROCF. Multiple regression analysis revealed significant effects of age and education on performance of both copying tasks, whereas sex appeared to affect only performance on the delayed copying task. Inferential cut-offs have been determined and equivalent scores computed. The availability of equivalent scores for the ROCF will prove useful in clinical assessment since it allows the comparison of a subject's performance on the ROCF with that on other neuropsychological tests for which normative values collected with similar methods are already available for the Italian population. Received: 23 November 2001 / Accepted in revised form: 12 December 2001     

Mini-Mental State Examination: a normative study in Italian elderly population

The Mini-Mental State Examination (MMSE), a brief test to assess cognitive status, is heavily influenced by age and education. It was administered to 1019 elderly subjects (aged 65–89 years) living in three different Italian cities. A statistical non-linear regression model was built up in order to obtain adjustment coefficients to reduce the influence of demographic variables on the MMSE raw scores. Age and educational level were significantly and independently associated with the MMSE score. Results of a multiple linear regression with transformation of age and education provided adjustment coefficients of the MMSE raw scores. Data from this study will ameliorate the overall reliability of MMSE as a screening test for cognitive impairment in elderly people.     

No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population

Cystatin C is an amyloidogenic protein found together with beta-amyloid in cerebral arteriolar walls of both patients with Alzheimer's Disease (AD) and conghopilic amyloid angiopathy. Several findings implicate cystatin C in the pathogenesis of vascular diseases. Recent genetic association studies proposed cystatin C gene (CST3) as a susceptibility factor for AD, although other reports did not replicate this finding. We conducted a case-control study including 192 probable AD cases and 192 age- and sex-matched controls to test the association between CST3 and AD. Possible interaction between CST3 and age at onset of AD or apolipoprotein E (APOE) was also examined. No significant differences in CST3 genotype or allele frequencies between cases and controls was observed, while the risk of AD increased in subjects carrying the APOE epsilon4 allele (OR 3.5, 95% CI [2.1-5.9]). There was no interaction between CST3 with age or APOE. Our findings do not support a role of CST3 gene in Italian sporadic AD.     

Clinical and genetic study of essential tremor in the Italian population

Essential tremor (ET) is one of the most common movement disorders. The pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidence suggested that the ET gene contains a CAG expanded region. We examined a cohort of 240 Italian ET patients, classified as familial (193 cases) and sporadic (47 cases). The clinical manifestations of ET patients confirmed that the disorder is characterised by a large phenotypic variability. Repeat expansion detection (RED) approach did not demonstrate large CAG expansions. Six families were genotyped with 12 microsatellites markers of 2p and 3q regions and analysed according to parametrical methods. Lod scores values obtained in these families excluded the association of ET with 2p and 3q loci. Our findings confirm the presence of genetic heterogeneity and suggest that at least a third locus is involved in the pathogenesis of familial essential tremor.     

Grammatical gender in the brain: evidence from an fMRI study on Italian

The grammatical gender of a word is a lexical-syntactic property determining agreement among different sentence parts. Recent fMRI investigations identified the areas involved in the retrieval of grammatical gender near the left Broca's area providing further evidence to confirm the preeminent syntactic role of this area. However, these studies employed categorical designs based on the controversial methodology of the cognitive subtraction of neural activations related to different tasks. In the present study we identified the neural substrates of grammatical gender assignment using an fMRI parametric study. Participants decided the grammatical gender of visually presented Italian words whose gender-to-ending regularity varied. The results showed activation in left and right fronto-temporal areas suggesting an interplay of both hemispheres in the processing of grammatical gender.     

Prevalence of somatoform disorders in a psychiatric population: an Italian nationwide survey

The survey involved 50 centres comprising both hospital and community psychiatric care services throughout Italy. Overall, 2620 patients were recruited, and of those 2002 (76%) completed the Somatoform Disorders Schedule (SDS), a CIDI-derived interview. The NOS somatoform disorders (SDs) diagnosis appeared to be the most common (60%) (and they showed the highest number of co-morbid diagnoses), followed by pain disorders (8%). The prevalence of undifferentiated somatoform and hypochondriactal disorders was 1.6%: older age groups showed a tendency towards higher rates of the latter. In general, the study found that a significant percentage of patients with SDs are referred to psychiatric services, but mainly because of other psychopathological problems: in fact, somatic complaints are cross-sectionally present in different psychiatric nosological categories. This study also emphasizes some limitations of the current classification of SDs. Received: 9 August 1996 / Accepted: 14 July 1998     

Australia's mental health: an overview of the general population survey

OBJECTIVES: The objectives of this study were to estimate the 1-month and 1-year prevalence of mental disorders in the Australian adult population; to determine the amount of disablement associated with this; and to determine the use of health and other services by persons with common mental disorders. METHOD: For the Adult Survey, a household sample of 10600 persons aged 18 years and over were interviewed across Australia by experienced field staff of the Australian Bureau of Statistics. This was 78% of the target sample. The interview consisted of the composite international diagnostic interview in its automated presentation (CIDI-A) and other components to determine disablement, use of services and satisfaction with services received. The diagnostic classifications used in the analyses were both ICD-10 and DSM-IV. Only the results from ICD-10 are reported here. RESULTS: A total of 17.7% of the sample had one or more common mental disorders, anxiety, depression, alcohol or substance abuse and neurasthenia. This morbidity was associated with considerable disablement in daily life: 3 days of impaired social role performance in the previous 4 weeks, compared with 1 day for the general population. Of all cases, 64.6% had had no contact with health services in the previous year; 29.4% had seen GPs and 7.5% had seen psychiatrists. CONCLUSION: Australia now has its own national estimates of psychiatric morbidity. The morbidity is associated with considerable disablement, but most of it is untreated. General practitioners encounter by far the largest proportion of those reaching services.