Short functional geriatric evaluation: Confirmatory factor analysis to assess the multidimensionality of frailty in community-dwelling older adults.

This paper explores the ageing population in Italy, where older adults account for more than 14 million individuals (in January 2023) and constitute 24.1 % of the total population. Frailty, a condition encompassing biological, psychological, social, and economic challenges, is recognised as a significant public health issue. The study introduces the Short Functional Geriatric Evaluation (SFGE) as a large-scale screening tool for frailty in community-dwelling older individuals. A Confirmatory Factor Analysis (CFA) was conducted on the SFGE. The CFA scrutinises the construct validity of SFGE using a sample population from the "Long Live the Elderly!" program in Italy. Initial results indicate an acceptable fit, prompting the incorporation of Modification Indices to enhance model performance. The refined CFA demonstrates that the SFGE model effectively captures the multidimensional nature of frailty. The text underscores the timeliness of identifying frailty, emphasising the need for simple, fast, and predictive tools to screen large populations efficiently.

A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.

Delineation of a developmental and behavioral trajectory is a key-topic in the context of a genetic syndrome. Short- and long-term implications concerning school outcome, independent living, and working opportunities are strictly linked to the cognitive and behavioral profile of an individual. For the first time, we present a longitudinal characterization of the adaptive and behavioral profile of a pediatric sample of 32 individuals with Sotos Syndrome (SoS) (18 males, 14 females; mean age 9.7 ± 4 years, eight carrying the NSD1 5q35 microdeletion and 24 with an intragenic mutation). We performed two clinical assessments: at baseline (T0) and at distance evaluation (T1) of adaptive and behavioral skills with a mean distance of 1.56 ± 0.95 years among timepoints. Our study reports a stability over the years-meant as lack of statistically significant clinical worsening or improvement-of both adaptive and behavioral skills investigated, regardless the level of Intellectual Quotient and chronological age at baseline. However, participants who did not discontinue intervention among T0 and T1, were characterized by a better clinical profile in terms of adaptive skills and behavioral profile at distance, emphasizing that uninterrupted intervention positively contributes to the developmental trajectory.

Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study.

BACKGROUND: An extremely heterogeneous neuropsychological phenotype has been reported in Sotos Syndrome (SoS), including socio-communicative and behavioral difficulties referred to Autism Spectrum Disorder (ASD). Nonetheless, to date, only few data are available on the topic. AIM: To investigate ASD symptoms within a sample of children with SoS in comparison to a matched control group of individuals with idiopathic ASD. METHODS: A convenience sample of SoS (n = 33, age: 9.8 ± 4.1) and ASD (n = 33, age: 9.9 ± 4.1), was included. Autistic symptoms' assessment was performed through the administration of the Autism Diagnostic Observation Schedule-Second Edition- ADOS-2, the Social Responsiveness Scale -SRS and the Social Communication Questionnaire-SCQ. RESULTS: 72.7% of SoS children presented mild to moderate levels of ASD symptoms as measured by the ADOS-2. Oneway ANOVA analysis showed that SoS individuals presenting lower IQ demonstrated higher ASD symptom's level (p = 0.01). No statistically significant differences emerged between the SoS and ASD groups within the SRS total score domain (p = 0.95). CONCLUSIONS AND IMPLICATIONS: Our results support the evidence for an increased risk for ASD in SoS, suggesting that the ASD symptoms' assessment should be regularly performed in SoS children, with subsequent important implications in terms of therapeutic strategies and later outcome.

Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.

Sotos syndrome (SoS) is a congenital overgrowth syndrome with variable degree of intellectual disability caused in the 90% of cases by pathogenetic variants of the Nuclear receptor binding SET Domain protein1 (NSD1) gene. NSD1 gene functions can be abrogated by different genetic alterations (i.e., small intragenic pathogenic variants like deletions/insertions, nonsense/missense pathogenic variants, partial gene deletions and whole deletions or microdeletion of 5q35 chromosomal region). Therefore, correlation of the genotype-phenotype with a possible contribution of more implicated genes to the medical, cognitive and behavioral profile is a topic of great interest. Although a more severe learning disability has been described in individuals with 5q35 microdeletion when compared to individuals with NSD1 intragenic pathogenic variants a fully delineated cognitive and behavioral phenotype has not been described yet. The importance of providing clinical characterization in relation to the genotype comes from the necessity to early identify children more at risk of developing psychopathological disorders. We characterize the cognitive, adaptive and behavioral phenotype of a pediatric sample of 64 individuals affected by SoS, performing a standardized neuropsychological evaluation. Secondly, we compare cognitive-behavioral profiles of SoS individuals carrying and not carrying the 5q35 microdeletion. SoS participants were characterized by a mild cognitive impairment of both Intellectual Quotient and adaptive skills in association to borderline symptoms of attention deficit. Our results suggest that the 5q35 microdeletion is associated with lower scores specifically concerning the cognitive, adaptive functioning and behavioral domains. However, longitudinal studies are necessary to confirm these findings and delineate a developmental trajectory of SoS.

Exploratory Factor Analysis (EFA) of the Short Functional Geriatric Evaluation (SFGE) to Assess the Multidimensionality of Frailty in Community-Dwelling Older Adults.

The Short Functional Geriatric Evaluation (SFGE) is a multidimensional and short questionnaire to assess biopsychosocial frailty in older adults. This paper aims to clarify the latent factors of SFGE. Data were collected from January 2016 to December 2020 from 8800 community-dwelling older adults participating in the "Long Live the Elderly!" program. Social operators administered the questionnaire through phone calls. Exploratory factor analysis (EFA) was carried out to identify the quality of the structure of the SFGE. Principal component analysis was also performed. According to the SFGE score, 37.7% of our sample comprised robust, 24.0% prefrail, 29.3% frail, and 9.0% very frail individuals. Using the EFA, we identified three main factors: psychophysical frailty, the need for social and economic support, and the lack of social relationships. The Kaiser-Meyer-Olkin measure of sampling adequacy was 0.792, and Bartlett's test of sphericity had a statistically significant result (p-value < 0.001). The three constructs that emerged explain the multidimensionality of biopsychosocial frailty. The SFGE score, 40% of which is social questions, underlines the crucial relevance of the social domain in determining the risk of adverse health outcomes in community-dwelling older adults.

Clinical profile and conversion rate to full psychosis in a prospective cohort study of youth affected by autism spectrum disorder and attenuated psychosis syndrome: A preliminary report.

Psychosis can occur at high rates in individuals with autism spectrum disorder (ASD). However, the detection of prodromal psychotic symptoms, including attenuated psychosis syndrome (APS), conditions at high risk of converting to full psychosis, has not been extensively investigated in ASD. We longitudinally evaluate a sample of young ASD individuals (age, mean ± SD: 13 ± 2.9) with (n = 13) or without (n = 18) concomitant APS through a standardized assessment of autistic (Autism Diagnostic Observation Schedule-Second Edition; ADOS-2) and psychotic (Structured Interview for Psychosis-Risk Syndromes, SIPS) symptoms and cognitive and adaptive skills. Individuals with other neuropsychiatric disorders were excluded. We estimated the conversion rate to full psychosis (according to SIPS criteria) over time (39.6 ± 11.5 months) and explored the role of clinical variables at baseline in the transition to full psychosis. A conversion rate to full psychosis of 30.7% was found in ASD/APS. Conversion to full psychosis was not affected by the severity of the autistic and psychotic symptoms. At baseline, young individuals with ASD/APS who later converted to full psychosis showed lower cognitive performance (d = 2.05) and greater impairment of adaptive social functioning profile (d = 1.2) than those with ASD. The results of this preliminary report revealed that nearly a third of young individuals with ASD/APS convert to full psychosis over time. Conversion to full psychosis is affected by decreased cognitive and adaptive skills. Further investigations are needed to confirm the utility of APS detection and to better characterize the psychotic developmental trajectory in ASD, with consequent important implications on prognosis and therapeutic strategies.

Developmental and Intelligence Quotient in Autism: A Brief Report on the Possible Long-Term Relation.

Developmental level and cognitive skills assessment represents a crucial aspect in the delineation of the clinical phenotype and long-term outcomes of individuals with autism spectrum disorder (ASD). Nevertheless, the evaluation of cognitive development trajectory across a lifespan ranging from birth to school age appears challenging for clinicians and researchers, because of the lack of measures that coherently cover this timeframe. Thus, the main goal of this community-based study was to investigate within a sample of ASD children if the developmental quotient (DQ), evaluated through the Griffiths Mental Development Scales Extended Revised (GMDS-ER) scale, predicts the non-verbal brief intelligence quotient (IQ), measured through the Leiter-R at follow-up. The main observation of our study was a positive correlation between the level of DQ and nonverbal IQ at follow-up evaluations, highlighting that ASD children characterized by a greater developmental profile will later present higher non-verbal IQ.

Admission to the Long-Term Care Facilities and Institutionalization Rate in Community-Dwelling Frail Adults: An Observational Longitudinal Cohort Study.

The worldwide aging and the increase of chronic disease impacted the Health System by generating an increased risk of admission to Long-Term Care (LTC) facilities for older adults. The study aimed to evaluate the admission rate to LTC facilities for community-dwelling older adults and investigate factors associated with these admissions. A secondary data analysis stemming from an observational longitudinal cohort study (from 2014 to 2017) was performed. The sample was made up by 1246 older adults (664 females and 582 males, mean age 76.3, SD ± 7.1). The LTC facilities access rate was 12.5 per 1000 observations/ year. Multivariable Linear Regression identified frailty, cardiovascular disease, and incapacity to take medicine and manage money as predictors of the LTC facilities' access rate. The Multiple Correspondence Analysis identified three clusters: those living at home with comorbidities; those living in LTC facilities who are pre-frail or frail; those very frail but not linked to residential LTC. The results indicate that access to LTC facilities is not determined by severe disability, severe comorbidity, and higher frailty levels. Instead, it is related to moderate disability associated with a lack of social support. Therefore, the care policies need to enhance social interventions to integrate medical, nursing, and rehabilitative care.

Maternal Perinatal Depression and Risk of Neurodevelopmental Disorders in Offspring: Preliminary Results from the SOS MOOD Project.

The latest research is attempting to define whether there may be an association between maternal Perinatal Depression (PD), the use of psychotropic medications during pregnancy, and a higher risk of neurodevelopmental disorders in children, including Autism Spectrum Disorder (ASD). A better understanding of the relation between PD and ASD is a key element to develop early interventions. This study has been developed in the context of the SOS MOOD project. Its aim is to evaluate the possible impact of maternal PD on the child's cognitive and behavioral phenotype with a focus on ASD. Women included in the project were screened during pregnancy (1st, 2nd trimester) for PD-categorized as affected or not-and if necessary were prescribed pharmacological therapy; offspring of both groups of women underwent at a mean age of 43 months a standardized neuropsychiatric evaluation of developmental and cognitive skills, behavioral problems, autism symptoms and parental stress. Preliminary results on 59 women and 59 children do not suggest significant long-term effects of maternal PD on offspring's development and behavior. Nonetheless further studies on wider samples are necessary in order to confirm such results and disentangle the role of possible confounding factors associated to the maternal illness.

Parental Stress and Disability in Offspring: A Snapshot during the COVID-19 Pandemic.

Parenting a child with a disability, such as neurodevelopmental disorders and genetic syndromes, implies a high level of stress. During the COVID-19 outbreak-as a period implying additional challenges-few studies have specifically investigated caregivers' distress among neurodevelopmental disabilities. The objective of the study is to investigate whether during the COVID-19 pandemic, the level of parental stress differs between four disability groups including neurodevelopmental disorders (autism spectrum disorder (ASD), attention deficit and hyperactivity disorder (ADHD)) and genetic syndromes (Rett syndrome (RTT), Sotos syndrome (SS)) in comparison to families with typical development offspring (TD). In total, 220 Italian parents of children affected by neurodevelopmental disabilities (74 ASD, 51 ADHD, 34 SS, 21 RTT, 40 TD; age M 9.4 ± SD 4.2) underwent a standardized evaluation for stress related to parenting through the self-report questionnaire, Parental Stress Index-Short Form (PSI-SF). The main findings show greater levels of parental stress-mainly linked to child behavioral characteristics rather than parental sense of competence-in parents of children affected by a disability in comparison to children with typical development. This study highlights the need to support not only individuals with special needs but also their own caregivers: core figures in the management and outcome of children disorders.

TrASDition Training: An online parental training for transition-age youth with autism spectrum disorder.

Transition to the adult age represents a rather challenging period of life for youth with Autism Spectrum Disorder (ASD) and for their families. Given the actual lack of integrated healthcare systems for autistic young-adults, enhancing parental skills could represent a feasible program to improve skills preparatory for transition in adult life. The online approach, providing easy access to services which otherwise would burden a daily family organization, already strenuous for a family with an autistic person, can represent an innovative way of delivering intervention. Therefore, we developed an online psychoeducational parental training, named TrASDition Training, with a 6 months duration, addressed to parents of autistic youth with and without Intellectual Disability during the transition age. The aim of this study was to longitudinally evaluate the impact of the online parental training on the adaptive functioning, on the repetitive and problematic behaviors of ASD youth (n = 23) and on parental stress. After 6 months of Training, we found a significant improvement in adaptive functioning of ASD participants and a reduction of parental stress.

Make Mission Impossible Feasible: The Experience of a Multidisciplinary Team Providing Treatment for Alcohol Use Disorder to Homeless Individuals.

AIM: People experiencing homelessness are often excluded from treatment programs for alcohol use disorder (AUD). The goal of this study was to describe the impact of a multidisciplinary treatment program on alcohol consumption and social reintegration in individuals with AUD experiencing homelessness. METHODS: Thirty-one individuals with AUD experiencing homelessness were admitted to an inpatient unit for 5-6 days for clinical evaluation and to treat potential alcohol withdrawal syndrome. A group of volunteers, in collaboration with the Community of Sant'Egidio, provided social support aimed to reintegrate patients. After inpatient discharge, all patients were followed as outpatients. Alcohol intake (number drinks/day), craving and clinical evaluation were assessed at each outpatient visit. Biological markers of alcohol use were evaluated at enrollment (T0), at 6 months (T1) and 12 months (T2). RESULTS: Compared with T0, patients at T1 showed a significant reduction in alcohol consumption [10 (3-24) vs 2 (0-10); P = 0.015] and in γ-glutamyl-transpeptidase [187 (78-365) vs 98 (74-254); P = 0.0021]. The reduction in alcohol intake was more pronounced in patients with any housing condition [10 (3-20) vs 1 (0-8); P = 0.008]. Similarly, compared with T0, patients at T2 showed significant reduction in alcohol consumption [10 (3-24) vs 0 (0-15); P = 0.001], more pronounced in patients with any housing condition [10 (3-20) vs 0 (0-2); P = 0.006]. Moreover, at T2 patients showed a significant reduction in γ-glutamyl-transpeptidase [187 (78-365) vs 97 (74-189); P = 0.002] and in mean cell volume [100.2 (95-103.6) vs 98.3 (95-102); P = 0.042]. CONCLUSION: Patients experiencing homelessness may benefit from a multidisciplinary treatment program for AUD. Strategies able to facilitate and support their social reintegration and housing can improve treatment outcomes.

Effectiveness of community-based treatment on clinical outcome in children with autism spectrum disorders: An Italian prospective study.

OBJECTIVE: Little is known about outcomes of Autism Spectrum Disorders (ASDs) interventions in real-life settings. The main aim of this naturalistic study was to collect real-life data on the actual ASDs treatment practices in Italy. METHODS: A cohort of 48 children undergoing community-based interventions was observed in terms of personal and environmental characteristics, treatment typology and outcomes. RESULTS: An earlier start of treatment was associated with an improvement of autistic symptoms, independently from symptoms severity (p < 0.05), but not with improvements in terms of intelligence quotient (p = 0.8). Children belonging to lower socioeconomic status families began treatment later (48.0 months) than those belonging to middle (39.8 months) or upper (39.2 months) classes (p < 0.05), and received less hours of treatment. CONCLUSION: The study showed that ASDs interventions should be observed not only in experimental settings, but also in naturalistic environments, so to appraise the actual effectiveness of integrating different treatment methods in community settings.

Reduction in retinal nerve fiber layer thickness in tuberous sclerosis complex.

PURPOSE: The aim of our study was to non-invasively investigate central nervous system axonal integrity in patients with tuberous sclerosis complex (TSC). Diffuse microstructural white matter abnormalities reflecting axonal disorganization, reduced/altered myelination, or gliosis have been described in individuals with TSC. Optical coherence tomography (OCT) is a fast, easy-to-perform, non-invasive, and cost-efficient method to assess retinal morphology in vivo and to measure the thickness of the retinal nerve fiber layer (RNFL). METHODS: In order to assess central nervous system axonal integrity, eight subjects with TSC have been investigated by OCT to evaluate RNFL and they have been compared with matched healthy controls. RESULTS: When comparing mean overall RNFL thicknesses of the TSC group with those of the control group, the TSC group presented with significantly lower RNFL values, compared to the control group, in the temporal quadrant (62.5 ± 6.9 vs. 76.9 ± 5.4; t = 14.438; p < 0.0001). CONCLUSIONS: Since a reduced RNFL thickness might be seen as an indicator of chronic axonal degeneration or lack of appropriate neuronal development, our results support the presence of axonal alterations in TSC and also that white matter disorganization could be much more diffuse than originally thought. Since axonal alterations directly derive from mammalian target of rapamycin (mTOR) overactivation, which occurs early during fetus development, the RNFL thinning we observed could represent one of the facets of such early neurodevelopmental abnormalities.

Are caesarean sections, induced labor and oxytocin regulation linked to Autism Spectrum Disorders?

The etiology of Autism Spectrum Disorders (ASDs) continues to be elusive. While ASDs have been shown to be heritable, several environmental co-factors, such as, e.g. pre- or perinatal adverse events, could play a role in the pathogenesis of the disorder as well. Prevalence of ASDs appears to have increased in the last three decades, but the causes of this surge are not fully understood. As perinatal adverse events have increased as well, they have been regarded as logical contributors to the risen prevalence of ASDs. Over the last three decades there has been also a considerable increase in the rates of induced labor and caesarean sections (CS). However, even if a causal association between CS and ASDs increase has been suggested, it has not yet been proven. Nevertheless, we hypothesize here that such an association is actual and that it might help to explain a part of the increase in ASD diagnoses. Our assumption is based on the wider epidemiological picture of ASDs and CS, as well as on the possible biological plausibility of this correlation, by postulating potential epigenetic and neurobiological mechanisms underpinning this relationship. Today, several observations point toward the existence of epigenetic dysregulation in ASDs and this raises the issue of the role of environmental factors in bringing about epigenetic modifications. Epigenetic dysregulations in some brain neuropeptide systems could play a role in the behavioral dysfunctions of ASDs. Particularly, some evidence suggests a dysregulation of the oxytocinergic system in autistic brains. Perinatal alterations of oxytocin (OT) can also have life-long lasting effects on the development of social behaviors. Within the perinatal period, various processes, like pitocin infusion or CS, can alter the OT balance in the newborn; OT dysregulation could then interact with genetic factors, leading ultimately to the development of ASDs. Large long-term prospective studies are needed to identify causal pathways for ASDs and examine whether and how (epi-)genetic susceptibility interacts with obstetric risk factors in the development of ASDs. A better understanding of such a potential interplay could become paradigmatic for a wide range of genetic-environmental interactions in ASDs.

Amisulpride vs. fluoxetine treatment of chronic fatigue syndrome: a pilot study.

Different pharmacologic agents have been evaluated in the treatment of Chronic Fatigue Syndrome (CFS), albeit with moderate efficacy. Among the compounds thought to present with potential to be efficacious in CFS patients stands out low-dose amisulpride, a substituted benzamide that has been shown to be an useful treatment for conditions which exhibit some overlap with CFS such as dysthymia and somatoform disorders. We thus recruited forty non-depressed CFS patients that were randomized to receive either amisulpride 25mg bid, or fluoxetine 20mg uid; all subjects were un-blinded to the treatment regimen. At the time of enrollment in the study and after twelve weeks of treatment, enrolled subjects completed the Krupp Fatigue Severity Scale, the Hospital Anxiety and Depression Scale and a visual analog scale focused on pain and bodily discomfort. Moreover, all subjects were evaluated by a clinician, blinded to the treatment regimen, using the Clinical Global Impression Severity Scale. Our data revealed a significant improvement both in self-report, and observer-based measures for the amisulpride-treated, but not for the fluoxetine-treated patients. Amisulpride-treated subjects also presented with a significant reduction of somatic complaints, while the amisulpride effect on anxiety and mood levels was not significant. Both drugs were equally well tolerated. Summing up, we showed a positive symptomatic effect of amisulpride, compared to SSRI treatment, in a group of non-depressed CSF patients on self-report and on observer-based measures of fatigue and somatic complaints. If confirmed by larger, blinded studies, amisulpride thus could represent an effective approach to this difficult-to-treat condition.