The wide spectrum of unique needs and strengths of Autism Spectrum Disorders (ASD) is a challenge for the worldwide healthcare system. With the plethora of information from research, a common thread is required to conceptualize an exhaustive pathogenetic paradigm. The epidemiological and clinical findings in ASD cannot be explained by the traditional linear genetic model, hence the need to move towards a more fluid conception, integrating genetics, environment, and epigenetics as a whole. The embryo-fetal period and the first two years of life (the so-called ‘First 1000 Days’) are the crucial time window for neurodevelopment. In particular, the interplay and the vicious loop between immune activation, gut dysbiosis, and mitochondrial impairment/oxidative stress significantly affects neurodevelopment during pregnancy and undermines the health of ASD people throughout life. Consequently, the most effective intervention in ASD is expected by primary prevention aimed at pregnancy and at early control of the main effector molecular pathways. We will reason here on a comprehensive and exhaustive pathogenetic paradigm in ASD, viewed not just as a theoretical issue, but as a tool to provide suggestions for effective preventive strategies and personalized, dynamic (from womb to adulthood), systemic, and interdisciplinary healthcare approach.

Background: This study describes the socio-demographic, clinical and functional characteristics of a representative sample of services users in Italy. The supports provided by formal agencies, natural networks and actual levels of quality of life (QoL) were assessed. Methods: 1,285 individuals with intellectual and developmental disabilities (IDD) served by 23 different services participated to the study. The influence of availability of support strategies, environmental factors, client characteristics, personal desires and goals, and support needs on the current QoL status was investigated using multiple regression. Results: QoL outcomes were significantly explained by support needs, client characteristics, personal goals and desires, and marginally by the presence of support strategies and environmental factors. Further, only a minor effect was found from support activities for general QoL outcomes. Conclusions: the results confirmed that the personal outcomes could be predicted providing support activities aligned to the specific personal needs and goals, confirming the importance of Personal Centered Planning process.

No abstract

We performed a prospective study of the high‐frequency components of the terminal portion of the QRS complex in 220 patients who survived acute myocardial infarction. Signal‐averaged electrocardiograms (SA‐ECGs) were performed before hospital discharge (16 ± 6 days) and then serially at regular intervals over the following year. SA‐ECGs were processed using a 40 Hz high‐pass bidirectional filter. Duration of “filtered” QRS (D‐normal value < 120 ms), duration of the low‐amplitude signals. (D40 ‐ n.v. < 39 ms) and last 40 ms voltage of the QRS complex (V40 ‐ n.v.> 20 µV) were measured. Late potentials (LPs) were defined as the presence of two or more abnormal values. In addition, 24‐hour Holter monitoring was performed in 208 patients and left ventricular ejection fraction (LVEF) was determined by scintigraphy in 111. Sixty‐two patients (group 1) had LPs, 158 had normal SA‐ECGs (group 2). Spontaneous normalization of SA‐ECGs occurred in 20% of patients after 6 months, although the mean values of D, D40 and V40 did not change significantly and the reproducibility was very good for all the indexes during all the follow‐up controls. Three patients had sudden death and three presented again with spontaneous, sustained ventricular tachycardia. Five of 62 (8%) group 1 patients had an arrhythmic event compared with one of 158 patients (0.6%) in group 2. The sensitivity of SA‐ECGs as a predictor of arrhythmic events was 83% with a specificity of 73%. Patients with subsequent arrhythmic events had longer filtered QRS (133 ± 19 vs 104 ± 16 ms; P < 0.001), longer duration of the low‐amplitude signals (54 ± 15 vs 33 ± 14 ms; P < 0.01), and lower voltages in the last 40 ms of the filtered QRS (11 ± 3 vs 36 ± 25 µV; P < 0.02) and, moreover, higher peak CK values and lower LVEF than those without such events. In conclusion, SA‐ECGs provide important prognostic information in identifying patients at risk of arrhythmic events after myocardial infarction although dynamic changes of LPs are observed during the first year after myocardial infarction.

No abstract

SummaryObjective – To provide a multidimensional description about the pattern of patients recovered in some Psychiatric Rehabilitation Sevices, as emerging from identification of similar groups regarded the total severity. Design and Setting – A cross-sectional survey has been conducted on patients recovered in 4 Northern-Italy Psychiatric Rehabilitation Services. A statistical bottom-up analysis (Principal Components and Cluster Analysis) has been performed. Main outcome measures – Any patient has been evaluated using a questionnaire with well-known rating scales (BPRS-psychiatric rating, Katx index and IADL index, IDS index of comorbidity) together with informations on sex, age, social and economic state, psychiatic history, therapeutic devices and staff involvement. Results – We analyzed 455 patients. 267 (58.7%) male and the mean age is 58.517.9. After statistical analysis, 4 clusters of patients has been found: the first group (106 patients) is younger, descrided as not seriuosly compromised, mostly with psychotic problems; the second (96 patients, most of them woman with diagnosis of demetia) is much older, with serious problems of indipendency and comorbidity. The third (82 patients) and fourth (171 patients) group show intermediate patterns. The level of care requested by these groups has been provided. Conclusions – Our results show the usefulness of sophisticated statistical methods to describe patients recovered in psychiatric rehabilitation services. Moreover, our findings could be useful as good proposal to the people involved in this field, planning an active intervention in this area.

No abstract

No abstract