Autism and psychopathology - prevalence, identification, and symptoms equivalence: study protocol.

Objective: Despite increasing evidence of high psychopathological vulnerability in people with Autism Spectrum Disorder (ASD) and/or Intellectual disability (ID), comprehensive data on prevalence and presentation of psychiatric disorders (PD) in people with significant cognitive and communication impairment are lacking. The extent to which PD can present with behavioral/observable symptoms and include Problem Behaviors (PB) has also been scarcely evaluated through population-based studies. The paper presents the protocol of a cross-sectional study aimed at filling these gaps, referred to a large multicentric Italian population-based sample of adolescents and adults. Methods: A battery of validated scales, SPAIDD, DASH-II, DiBAS-R, and STA-DI, is used to support and control for clinical diagnoses of PD. Study population is stratified according to different independent variables such as the severity of ID and ASD, gender, age group, and source of recruitment. A network analysis will be carried out to identify the most central behavioral symptoms for the various PD and their relationship with PB. Overlap between psychiatric symptoms and ASD and ID phenotypes is also addressed. Results and Conclusion: This study should provide valuable insight into better diagnostic accuracy, leading to well-informed interventions to improve the quality of life of people with ASD and/or ID.

A new classification system and taxonomic synopsis for Malpighiaceae (Malpighiales, Rosids) based on molecular phylogenetics, morphology, palynology, and chemistry.

Malpighiaceae has undergone unprecedented changes in its traditional classification in the past two decades due to several phylogenetic studies shedding light on the non-monophyly of all subfamilies and most tribes and genera. Even though morphological characters were used to reconstruct the last molecular generic phylogeny of Malpighiaceae, a new classification system has never been proposed for this family. Based on a comprehensive review of the last twenty years of published studies for this family, we propose a new classification system and provide a taxonomic synopsis for Malpighiaceae based on molecular phylogenetics, morphology, palynology, and chemistry as a baseline for the systematics, conservation, and taxonomy of this family worldwide. Malpighiaceae currently comprises two subfamilies (Byrsonimoideae and Malpighioideae), 12 tribes ( Acmanthereae, Acridocarpeaetrib. nov., Barnebyeaetrib. nov., Bunchosieaetrib. nov., Byrsonimeae, Galphimieae, Gaudichaudieae, Hiptageae, Hiraeeae, Malpighieae, Mcvaughieaetrib. nov., and Ptilochaeteaetrib. nov.), 72 genera (incl. Mamedeagen. nov.), and 1,499 accepted species (715 of which are currently under some kind of extinction threat). We present identification keys for all subfamilies, tribes, and genera, a full morphological description for the proposed new genus, the re-circumscription of ten genera alongside the needed new combinations, the proposition of several new synonyms, the typification of several names, and notes on the taxonomy, distribution, conservation, and ecology up to the genus rank. Morphological plates are also provided to illustrate the immense diversity of morphological traits used in the new classification and synopsis.

Updates in the care of youths with intellectual disability and autism spectrum disorder.

PURPOSE OF REVIEW: Since the turn of the new millennium, care for people with intellectual disability/intellectual developmental disorders (IDD) and/or autism spectrum disorder (ASD) has drawn increasing attention because of the continuous prevalence increase of these two conditions, the high health vulnerability, especially mental vulnerability, and the crucial role of care provision in the setting of continued deinstitutionalization and the shift to community care. The present review addresses the main issues related to mental healthcare in youth with IDD and/or ASD with a specific focus on adolescence and transition to adulthood. RECENT FINDINGS: Despite the existence of specific recommendations, persons with IDD/ASD lack access to quality mental healthcare within communities, receive inadequate diagnosis and intervention, including medication overuse as well as ineffective residential, educational, employment, financial, and social support services. The lack of a unified care system that provides services across all domains and life ages may be the cause of users' perceptions and experiences of inefficiencies. SUMMARY: The scientific community seems to converge on that care should be provided in accordance with principles of interdisciplinarity, life-span view, precision, personalization, and participation. Quality of life appears to be an ideal conceptual reference for care planning and outcome evaluation.

Isometric myography is a feasible method to identify and quantify endothelial dysfunction in dogs with myxomatous mitral valve disease.

OBJECTIVE: To assess the feasibility of isometric myography in pet dogs with myxomatous mitral valve disease (MMVD) to determine its use in quantifying endothelial dysfunction. ANIMALS: 9 dogs euthanized for medical reasons. METHODS: Femoral, renal, and mesenteric arteries were collected postmortem and stored in physiological saline solution at 4 °C for myography. Mitral valves were scored for myxomatous degeneration (grades 1 to 4). Sections of arteries were mounted in wells, immersed in physiological saline solution perfused with 95% O2 and 5% CO2 at 37 °C, and stretched to an internal circumference (IC) that generated the maximal difference between active and passive wall tension (IC1). Normalization factors were calculated by dividing the IC1 by the IC at which the passive wall tension was 100 mm Hg (IC100). Vasoconstriction to phenylephrine and vasodilation to acetylcholine (endothelial dependent) and sodium nitroprusside (endothelial independent) were assessed by cumulative dose-response curves. RESULTS: Median MMVD grade was 3. Mean values of normalization factors were 1.00 ± 0.14 (renal, n = 15), 1.00 ± 0.10 (femoral, 8), and 1.05 ± 0.12 (mesenteric, 6). Responses to phenylephrine were similar between dogs (P = .14). Reduced responses to acetylcholine compared with sodium nitroprusside were identified in 15 arteries, suggesting endothelial dysfunction. CLINICAL RELEVANCE: Isometric myography of arteries from pet dogs is feasible and can identify loss of endothelial-dependent relaxation in dogs with MMVD postmortem. Its use in further research can lead to a better understanding of the pathophysiology mechanisms of this disease.

Appropriateness of psychopharmacological therapies to psychiatric diagnoses in persons with autism spectrum disorder with or without intellectual disabilities: a cross-sectional analytic study.

BACKGROUND: Observational studies highlighted high rates of psychotropic medication in persons with autistic spectrum disorder (ASD) with or without intellectual disability, which seems to be associated with the management of problem behaviors more than co-occurrent psychiatric disorders. The purpose of the study is to investigate psychopharmacology use and diagnoses of co-occurrent psychiatric disorder (PD) in persons with ASD attending a public mental health service in Emilia Romagna, Italy. METHODS: The present study is a multicenter, cross-sectional study. RESULTS: 275 persons out of 486 (56.5%) resulted to receive at least one psychotropic drug, compared to 74 persons (15.2%) that were diagnosed with a PD. 63.6% were on poly-pharmacotherapy (2-10 compounds), with 37.8% receiving 3 or more medications. Antipsychotics were the most frequently prescribed class of psychotropic drugs (89%), followed by antiepileptics/mood stabilizers/lithium (42.1%) and anxiolytics (BDZ) (38.5%). Most common psychiatric disorders were psychotic disorders (29.7%), followed by anxiety disorders (17.5%), bipolar disorders (12.2%), and depressive disorders (9.4%). CONCLUSIONS: Our findings support earlier research showing that many individuals with ASD receive pharmacotherapy without being diagnosed with a co-occurring psychiatric disorder, indicating that the main reasons for prescription and the type of compound frequently have little to no link with specific psychopathology.

Perspectives of the Biomedical Engineering Program at UASLP after ten years - analysis and criticism.

The Biomedical Engineering (BME) bachelor pro-gram of the Faculty of Sciences in Universidad Autónoma de San Luis Potosí (UASLP) was created in June of 2010, with the aim of training professionals with an integral perspective in the engineering field by considering a multidisciplinary approach to develop and apply technology in the areas of medicine and biology. After 10 years, our BME program has achieved national recognition. Despite of being an emerging program, this achievement has been obtained by the consolidation of our academic staff, the outstanding participation of our students in national and international academic events, and the historical graduation results. In our comprehensive evaluation, we report an overall terminal efficiency (completion rate) of 67% and a graduation rate of 47.2%, where these values are above the average for an engineering program in our institution. Additionally, the BME program provides students with solid skills and background to carry out research activities, which has resulted in a considerable number of alumni pursuing graduate studies or have already completed one. Our results show that 90% of our former students are working after graduation, but only 44% work in the field of biomedical engineering, since the regional labor market starts to saturate given the fact that, at present, students from six generations have completed our BME bachelor program. In this way, few graduates visualize the wide spectrum of job options where a biomedical engineer can impact, by their distinctive comprehensive and multidisciplinary training. Therefore, it is necessary to propose new curricular design strategies to provide our students with an academic training that allows them to enter a globalized world, where there is an even greater spectrum of engineering possibilities related to the fields of medicine and biology, in line with current trends.

Randomised controlled trials of antidepressant and anti-anxiety medications for people with autism spectrum disorder: systematic review and meta-analysis.

BACKGROUND: Although widely used, the current evidence for the efficacy of antidepressant and anti-anxiety medications for people with autism spectrum disorder (ASD) is limited and conflicting. AIMS: We carried out a systematic review and meta-analysis of randomised controlled trials that assessed the effectiveness of these medications in people with ASD. METHOD: We searched the following databases: Cochrane Library, Medline, EMBASE, CINAHL, PsycINFO, ERIC, DARE and ClinicalTrials.gov. Additionally, we hand-searched 11 relevant journals. We used the Cochrane risk-of-bias tool and Jadad score to assess the quality of each included study. We carried out a meta-analysis using a random effects model. RESULTS: We included 15 randomised controlled trials (13 on antidepressants and two on anti-anxiety medications) for a total of 958 people with ASD. Data showed contradictory findings among the studies, with larger studies mostly showing a non-significant difference in outcomes between the treatment and the placebo groups. Meta-analysis of pooled Yale-Brown Obsessive Compulsive Scale and Clinical Global Impression Scale data from nine studies (60%) did not show any statistically significant inter-group difference on either of the outcome measures. The adverse effects reported were mild and, in most studies, their rates did not show any significant inter-group difference. CONCLUSIONS: Given the methodological flaws in the most included studies and contradictory findings, it is difficult to draw any definitive conclusion about the effectiveness of either antidepressant or anti-anxiety medications to treat either ASD core symptoms or associated behaviours. Robust, large-scale, randomised controlled trials are needed to address this issue.

Stereotypies in the Autism Spectrum Disorder: Can We Rely on an Ethological Model?

BACKGROUND: Stereotypic behaviour can be defined as a clear behavioural pattern where a specific function or target cannot be identified, although it delays on time. Nonetheless, repetitive and stereotypical behaviours play a key role in both animal and human behaviour. Similar behaviours are observed across species, in typical human developmental phases, and in some neuropsychiatric conditions, such as Autism Spectrum Disorder (ASD) and Intellectual Disability. This evidence led to the spread of animal models of repetitive behaviours to better understand the neurobiological mechanisms underlying these dysfunctional behaviours and to gain better insight into their role and origin within ASD and other disorders. This, in turn, could lead to new treatments of those disorders in humans. METHOD: This paper maps the literature on repetitive behaviours in animal models of ASD, in order to improve understanding of stereotypies in persons with ASD in terms of characterization, pathophysiology, genomic and anatomical factors. RESULTS: Literature mapping confirmed that phylogenic approach and animal models may help to improve understanding and differentiation of stereotypies in ASD. Some repetitive behaviours appear to be interconnected and mediated by common genomic and anatomical factors across species, mainly by alterations of basal ganglia circuitry. A new distinction between stereotypies and autotypies should be considered. CONCLUSIONS: Phylogenic approach and studies on animal models may support clinical issues related to stereotypies in persons with ASD and provide new insights in classification, pathogenesis, and management.

Heteropterys rosmarinifolia, a new species of Malpighiaceae with verticillate leaves from savannas grasslands of central Brazil.

A new species of Heteropterys belonging to the Parabanisteria informal group is described for the savannas grasslands of the Serra do Tombador Natural Reserve, municipality of Cavalcante, State of Goiás, Brazil. Heteropterys rosmarinifolia is easily distinguished from the remaining Brazilian species of the Parabanisteria informal group due to its stems unbranched, leaves associated with the inflorescence verticillate, blades linear to very narrowly oblong, strongly conduplicate, ascending to upright, and sparsely sericeous to glabrous at age. We present a complete morphological description for the new species, photographic plates, comments on its distribution, ecology, and taxonomy, besides an identification key to the species of Heteropterys from the Parabanisteria group from the State of Goiás, Brazil.

Revisiting the taxonomy of the Neotropical Haemodoraceae (Commelinales).

Based on extensive herbarium, field, botanical illustration, and molecular phylogenetic research, five genera and eight species are recognised for the Neotropical Haemodoraceae. New taxa include Cubanicula Hopper et al., Xiphidium pontederiiflorum M.Pell. et al. and Schiekia timida M.Pell. et al. Two new combinations are made, Cubanicula xanthorrhizos (C.Wright ex Griseb.) Hopper et al. and Schiekia silvestris (Maas & Stoel) Hopper et al. We also correct the author citation for Xiphidium, provide the necessary typifications for several names and present an updated identification key, comments, and photo plates for all species. Finally, we provide high-quality illustrations for most of the recognised species and their diagnostic characters.

[Psychiatric and psychological support for an adolescent woman with chromosome 22 deletion syndrome and intellectual disability: a good outcome]. / Percorso psichiatrico e psicologico per una giovane donna con sindrome da delezione del cromosoma 22 e disabilità intellettiva: un buon outcome.

AIMS: Longitudinal description of a clinical case of a woman with Chromosome 22 deletion syndrome (22q11.2DS), mild intellectual disability (ID) and associated psychiatric disorders, treated at "Adolescent Outpatient Service", at the ASST Monza DSMD from 2011 to 2017. METHODS: Assessment Test Tools. T0 (2011): WAIS-R; SCID-I; Vineland Scale; SPAIDD-G; SPAIDD-Follow-up. T1 (2013): SPAIDD-Follow-up. T2 (2015): SPAIDD-Follow-up. T3 (2017): SCID-I; Vineland Scale; SPAIDD-Follow up. Pharmacological psychiatric treatment: Shift from haloperidol 1 mg, sertraline 100 mg to aripiprazole 15 mg, venlafaxine 150 mg. Psychoeducational psychological treatment: 1 session every 15 days; support to family. RESULTS: (2011) WAIS-R: slight ID (total IQ 67, verbal IQ 73, performance IQ 67); SCID-I: subthreshold psychotic symptomatology, panic attack disorder with agoraphobia, obsessive-compulsive disorder (OCD) with trichotillomania; Vineland Scale: Communication 256/266, Daily Skills 267/402, Socialization 202/268, Motor skills 111/144; SPAIDD-G: OCD; SPAIDD-Follow up: aggression, psychomotor agitation, somatic complaints, impulsivity, oppositional behaviour, stereotypes, depressed mood, compulsions. (2017) SCID-I: OCD with trichotillomania; Vineland Scale: Communication 248/266, Daily Skills 312/402, Socialization 226/268, Motor skills 136/144; SPAIDD-Follow-up: stereotypes and compulsions persist. DISCUSSION AND CONCLUSIONS: There was no transition to psychosis in the follow-up; OCD and trichotillomania persists, probably related to neurodevelopmental alterations, that are difficult to be modified. In 22q11.2DS patients, standard non-pharmacological treatment strategies (CBT) are difficult to apply, but in the present case the combination of pharmacological and psychoeducational psychological treatment was effective, both for the reduction of symptoms and for the acceptance of ID by patient and family.

Standardizing the assessment of emotional development in adults with intellectual and developmental disability.

OBJECTIVE: The Scale of Emotional Development-Short (SED-S) is an instrument to assess the level of emotional development (ED) in people with intellectual and developmental disability. Index cases are developed as a didactic tool to standardize the application of the scale. METHOD: In a stepwise process, a European working group from six countries developed five index cases, one for each level of ED. All cases were first scored by 20 raters using the SED-S and then rephrased to reduce inter-rater variations (SD > 0.5). RESULTS: All five index cases yielded overall ratings that matched the intended level of ED. Across the range of ED, Regulating Affect needed rephrasing most to ensure a distinct description within each level of ED. CONCLUSIONS: The tri-lingual, cross-cultural evolution of five index cases contributes to a standardized application of the SED-S and can serve as training material to improve the inter-rater reliability of the SED-S across different cultures and languages.

The Relationship Between Spiritual Life and Quality of Life in People with Intellectual Disability and/or Low-Functioning Autism Spectrum Disorders.

Spirituality seems to represent a relevant domain in the person-centred care planning and outcome assessment for persons with intellectual disability and low-functioning autism spectrum disorder. Despite this, the impact of spirituality on subjective well-being and quality of life (QoL) has been scarcely investigated. The aim of the present study was to map the international scientific literature in order to identify the reasons of such misconsideration and the key points for future research and practice implementation. The relationship between spirituality and QoL depends on a complexity of factors, ranging from QoL theoretical models to services' organisation. Personal attitude, family members, health and social-care personnel, training, faith and life communities, and even different religions seem to deserve an in-depth analysis.

Surgery in reference centers improves survival of sarcoma patients: a nationwide study.

BACKGROUND: NETSARC (netsarc.org) is a network of 26 sarcoma reference centers with specialized multidisciplinary tumor boards (MDTB) aiming to improve the outcome of sarcoma patients. Since 2010, presentation to an MDTB and expert pathological review are mandatory for sarcoma patients nationwide. In the present work, the impact of surgery in a reference center on the survival of sarcoma patients investigated using this national NETSARC registry. PATIENTS AND METHODS: Patients' characteristics and follow-up are prospectively collected and data monitored. Descriptive, uni- and multivariate analysis of prognostic factors were conducted in the entire series (N = 35 784) and in the subgroup of incident patient population (N = 29 497). RESULTS: Among the 35 784 patients, 155 different histological subtypes were reported. 4310 (11.6%) patients were metastatic at diagnosis. Previous cancer, previous radiotherapy, neurofibromatosis type 1 (NF1), and Li-Fraumeni syndrome were reported in 12.5%, 3.6%, 0.7%, and 0.1% of patients respectively. Among the 29 497 incident patients, 25 851 (87.6%) patients had surgical removal of the sarcoma, including 9949 (33.7%) operated in a NETSARC center. Location, grade, age, size, depth, histotypes, gender, NF1, and surgery outside a NETSARC center all correlated to overall survival (OS), local relapse free survival (LRFS), and event-free survival (EFS) in the incident patient population. NF1 history was one of the strongest adverse prognostic factors for LRFS, EFS, and OS. Presentation to an MDTB was associated with an improved LRFS and EFS, but was an adverse prognostic factor for OS if surgery was not carried out in a reference center. In multivariate analysis, surgery in a NETSARC center was positively correlated with LRFS, EFS, and OS [P < 0.001 for all, with a hazard ratio of 0.681 (95% CI 0.618-0.749) for OS]. CONCLUSION: This nationwide registry of sarcoma patients shows that surgical treatment in a reference center reduces the risk of relapse and death.

Patient preferences and health state utilities associated with dulaglutide and semaglutide injection devices among patients with type 2 diabetes in Italy.

Aims: Several glucagon like peptide-1 (GLP-1) receptor agonists are available as weekly injections for treatment of type 2 diabetes. These medications vary in their injection devices, and these differences could impact quality-of-life and patient preference. The purpose of this study was to examine patient preferences and estimate health state utilities associated with injection devices for two weekly GLP-1 therapies. Materials and methods: Participants with type 2 diabetes in Italy (Milan, Rome) valued three health state vignettes in time trade-off interviews. The health states had identical descriptions of type 2 diabetes, but differed in description of the treatment process: (1) oral treatment regimen, (2) oral plus weekly dulaglutide injection, and (3) oral plus weekly semaglutide injection. Results: A total of 216 participants completed interviews (57.9% male; mean age = 60.5). Almost all patients (99.5%) preferred the oral health state over either injection health state. Comparing between the two injections, 88.4% preferred the dulaglutide health state, while 11.6% preferred the semaglutide state. Mean (SD) utilities were 0.907 (0.076) for oral, 0.894 (0.085) for dulaglutide, and 0.887 (0.087) for semaglutide. The mean (SD) utility difference between the injection device health states was 0.007 (0.019). Limitations: Although the health states were designed to match the injection device instructions for use as closely as possible, vignette-based methods are inherently limited because results are based on perceptions of the health states rather than actual patient experience with the devices. Conclusions: Results provide insight into patient preferences associated with injection devices for weekly GLP-1 receptor agonists. The majority of patients preferred the dulaglutide device over the semaglutide device, and for some patients, this difference had an impact on utility valuations. Patient preferences for injection devices could be an important factor to consider when selecting treatments for type 2 diabetes.

Electrical Burns and Late Spontaneous Artery Ruptures: About Three Cases.

Electrical burns are responsible for arterial and venous thrombosis, as well as weakening of the arteries. Immediate or delayed arterial occlusions, secondary to the aggression of the intima, or aneurysms, secondary to the aggression of the media, sometimes lead to artery ruptures without any warning signs. Such ruptures may trigger a hemorrhagic shock whose period of onset is variable and unpredictable. We are presenting here three cases treated in our department for electrical burns, whose complications were marked by hemorrhagic shock, secondary to late artery ruptures, sometimes occurring several months following the event. These case reports required performance of emergency hemostasis in order to control sudden bleeding, with first approach being placement of a tourniquet at the base of the limb and/or a compression point. Through these cases, we thought it is crucial to closely monitor for a few weeks all patients who were victims of electrical injury, even more so if it was associated with a compartment syndrome of one or more limbs and high rhabdomyolysis, which seem to be predictive factors of late artery ruptures in our case reports.