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.

Stable chalcogenide Ge-Sb-Te heterostructures with minimal Ge segregation.

Matching of various chalcogenide films shows the advantage of delivering multilayer heterostructures whose physical properties can be tuned with respect to the ones of the constituent single films. In this work, (Ge-Sb-Te)-based heterostructures were deposited by radio frequency sputtering on Si(100) substrates and annealed up to 400 °C. The as-deposited and annealed samples were studied by means of X-ray fluorescence, X-ray diffraction, scanning transmission electron microscopy, electron energy loss spectroscopy and Raman spectroscopy. The heterostructures, combining thermally stable thin layers (i. e. Ge-rich Ge5.5Sb2Te5, Ge) and films exhibiting fast switching dynamics (i. e. Sb2Te3), show, on the one side, higher crystallization-onset temperatures than the standard Ge2Sb2Te5 alloy and, on the other side, none to minimal Ge-segregation.

Prevalence of co-occurring conditions in children and adults with autism spectrum disorder: A systematic review and meta-analysis.

This systematic review estimates the prevalence of co-occurring conditions (CCs) in children and adults with autism. A comprehensive search strategy consulting existing guidelines, diagnostic manuals, experts, carers, and autistic people was developed. PubMed and PsycInfo databases from inception to May 2022 were searched. PROSPERO registration: CRD42019132347. Two blind authors screened and extracted the data. Prevalence estimates for different CCs were summarized by using random effects models. Subgroup analyses were performed for age groups (children/adolescents vs adults) and study designs (population/registry-based vs clinical sample-based). Of 19,932 studies, 340 publications with about 590,000 participants were included and meta-analyzed to estimate the prevalence of 38-point prevalence, 27-lifetime, and 3 without distinction between point and lifetime prevalence. Point prevalence of developmental coordination disorder, sleep-wake problem, gastrointestinal problem, ADHD, anxiety disorder, overweight/obesity, feeding and eating disorder, elimination disorder, disruptive behavior, and somatic symptoms and related disorder were the most frequent CCs. Prevalence differed depending on the age group and study design. Knowing specific CCs linked to autism helps professional investigations and interventions for improved outcomes.

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.

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.

Developmental Delays in Socio-Emotional Brain Functions in Persons with an Intellectual Disability: Impact on Treatment and Support.

Intellectual disability is a neurodevelopmental disorder with a related co-occurrence of mental health issues and challenging behaviors. In addition to purely cognitive functions, socio-emotional competencies may also be affected. In this paper, the lens of developmental social neuroscience is used to better understand the origins of mental disorders and challenging behaviors in people with an intellectual disability. The current concept of intelligence is broadened by socio-emotional brain functions. The emergence of these socio-emotional brain functions is linked to the formation of the respective neuronal networks located within the different parts of the limbic system. Thus, high order networks build on circuits that process more basic information. The socio-emotional skills can be assessed and complement the results of a standardized IQ-test. Disturbances of the brain cytoarchitecture and function that occur at a certain developmental period may increase the susceptibility to certain mental disorders. Insights into the current mental and socio-emotional functioning of a person may support clinicians in the calibration of treatment and support. Acknowledging the trajectories of the socio-emotional brain development may result in a more comprehensive understanding of behaviors and mental health in people with developmental delays and thus underpin supports for promotion of good mental health in this highly vulnerable population.

Structural and Electrical Properties of Annealed Ge2Sb2Te5 Films Grown on Flexible Polyimide.

The morphological, structural, and electrical properties of as-grown and annealed Ge2Sb2Te5 (GST) layers, deposited by RF-sputtering on flexible polyimide, were studied by means of optical microscopy, atomic force microscopy, X-ray diffraction, Raman spectroscopy, and electrical characterization. The X-ray diffraction annealing experiments showed the structural transformation of GST layers from the as-grown amorphous state into their crystalline cubic and trigonal phases. The onset of crystallization of the GST films was inferred at about 140 °C. The vibrational properties of the crystalline GST layers were investigated via Raman spectroscopy with mode assignment in agreement with previous works on GST films grown on rigid substrates. The electrical characterization revealed a good homogeneity of the amorphous and crystalline trigonal GST with an electrical resistance contrast of 8 × 106.

Growth, Electronic and Electrical Characterization of Ge-Rich Ge-Sb-Te Alloy.

In this study, we deposit a Ge-rich Ge-Sb-Te alloy by physical vapor deposition (PVD) in the amorphous phase on silicon substrates. We study in-situ, by X-ray and ultraviolet photoemission spectroscopies (XPS and UPS), the electronic properties and carefully ascertain the alloy composition to be GST 29 20 28. Subsequently, Raman spectroscopy is employed to corroborate the results from the photoemission study. X-ray diffraction is used upon annealing to study the crystallization of such an alloy and identify the effects of phase separation and segregation of crystalline Ge with the formation of grains along the [111] direction, as expected for such Ge-rich Ge-Sb-Te alloys. In addition, we report on the electrical characterization of single memory cells containing the Ge-rich Ge-Sb-Te alloy, including I-V characteristic curves, programming curves, and SET and RESET operation performance, as well as upon annealing temperature. A fair alignment of the electrical parameters with the current state-of-the-art of conventional (GeTe)n-(Sb2Te3)m alloys, deposited by PVD, is found, but with enhanced thermal stability, which allows for data retention up to 230 °C.

Interface Formation during the Growth of Phase Change Material Heterostructures Based on Ge-Rich Ge-Sb-Te Alloys.

In this study, we present a full characterization of the electronic properties of phase change material (PCM) double-layered heterostructures deposited on silicon substrates. Thin films of amorphous Ge-rich Ge-Sb-Te (GGST) alloys were grown by physical vapor deposition on Sb2Te3 and on Ge2Sb2Te5 layers. The two heterostructures were characterized in situ by X-ray and ultraviolet photoemission spectroscopies (XPS and UPS) during the formation of the interface between the first and the second layer (top GGST film). The evolution of the composition across the heterostructure interface and information on interdiffusion were obtained. We found that, for both cases, the final composition of the GGST layer was close to Ge2SbTe2 (GST212), which is a thermodynamically favorable off-stoichiometry GeSbTe alloy in the Sb-GeTe pseudobinary of the ternary phase diagram. Density functional theory calculations allowed us to calculate the density of states for the valence band of the amorphous phase of GST212, which was in good agreement with the experimental valence bands measured in situ by UPS. The same heterostructures were characterized by X-ray diffraction as a function of the annealing temperature. Differences in the crystallization process are discussed on the basis of the photoemission results.

Social distance and stigma towards persons with serious mental illness among medical students in five European Central Asia countries.

The study investigated behavioral measures of social distance (i.e., desired proximity between self and others in social contexts) as an index of stigma against those with mental illness among medical students in the Republic of North Macedonia, Turkey, Azerbaijan, Kazakhstan, and Poland, using the Reported and Intended Behavior Scale (RIBS), a standardized, self-administered behavioral measure based on the Star Social Distance Scale. The students' responses to standardized clinical vignettes on schizophrenia, and depression with suicidal ideation, were also assessed. A total of 257 North Macedonian (females, 31.5%; 1-4 grades, 189; 5-6 grades, 68); 268 Turkish (females, 43.3%; 1-4 grades, 90; 5-6 grades, 178); 450 Kazakh (females, 28.4%, 71.6%; 1-4 grades, 312; 5-6 grades, 138); 512 Azerbaijani (females, 24%; 1-4 grades, 468; 5-6 grades, 44; females, 24%), and 317 Polish (females, 59.0%; 1-4 grades, 208; 5-6 grades, 109) students were surveyed. The responses on the RIBS social distance behavior measures did not improve with advancing medical school grade, but students across all sites viewed schizophrenia and depression as real medical illnesses. The results support the development of enhanced range of integrated training opportunities for medical student to socially interact with persons with mental illness sharing their experiences with them.

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.

COVID-19 pandemic, the scarcity of medical resources, community-centred medicine and discrimination against persons with disabilities.

This research aims to examine access to medical treatment during the COVID-19 pandemic for people living with disabilities. During the COVID-19 pandemic, the practical and ethical problems of allocating limited medical resources such as intensive care unit beds and ventilators became critical. Although different countries have proposed different guidelines to manage this emergency, these proposed criteria do not sufficiently consider people living with disabilities. People living with disabilities are therefore at a higher risk of exclusion from medical treatments as physicians tend to assume they have poor quality of life, whereas access to medical treatment should be based on several parameters, including clinical data and prognosis. However, the COVID-19 pandemic shifts the medical paradigm from person-centred medicine to community-centred medicine, challenging the main ethical theories. We reviewed the main guidelines and recommendations for resources allocation and examined their position toward persons with disabilities. Based on our findings, we propose criteria for not discriminating against people with disabilities in allocating resources. The shift from person-centred to community-centred medicine offers opportunities but also risks sacrificing the most vulnerable people. The principle of reasonable accommodation must always be considered to guarantee the rights of persons with disabilities.

Reframing QoL assessment in persons with neurodevelopmental disorders.

The paper reviews the international literature on quality of life (QoL) for persons with neurodevelopmental disorders (NDD) in order to define the theoretical frame for optimal assessment. The application of the QoL approach to assessment procedures should be based on three main aspects: shared QoL, personal QoL and family QoL. The first aspect refers to characteristics of individual life that are shared with other people. The second aspect proceeds from the fact that each individual has a changing set of personal attributes that determine the subjective experience of life. In the third aspect the previous two are applied to the family that includes a person with NDD. Disability impacts the whole family and the determination of appropriate conceptualization of family outcomes requires an understanding of the impact of members with a disability on family QoL. At any level, it seems best to take a comprehensive approach to assessing QoL, integrating subjective and objective aspects, self-reports and hetero-evaluations. The QoL approach is above all a way to explore the rich intricacies of personal quality of life. Such assessment may be used effectively with people with NDD, independently from the severity of their functioning impairment. Individuals with profound ID may express their inner states through consistent behavioural repertoires, which can be discerned by persons closest to them and validated by more independent others. Attention must be paid in using non-generic instruments, such as those that measure health-related QoL. Although they do focus on the individual person, they still support a theoretical perspective of QoL that has not departed significantly from the traditional medical approach. Currently available generic tools, although they have some common conceptual and evaluation characteristics, still show considerable differences in the areas to be included in "shared QoL", the dimensions used to evaluate "Individual QoL", and the role attributed to indicators of QoL. QoL assessment should not represent a classification of individuals, services or systems, but it should help provide, within service systems and organizations, a value system that is consistent with those values held by people with NDD.

[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.