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.

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.

[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.

Problem behaviours and Major Depressive Disorder in adults with intellectual disability and autism.

The high prevalence of Problem Behaviours (PB) in persons with intellectual disability (ID) and Autism Spectrum Disorder (ASD) has been associated by some researchers to a proportionate frequency of Major Depressive Disorder (MDD), which have a different presentation in persons with ID and ASD than in the general population, mostly as behavioural changes. Nevertheless, evidence on this behavioural equivalency is still scarce. The present study aims at evaluating the rate of MDD in persons with ID and ASD presenting PB. Two groups of persons with mild-to-moderate ID and ASD, with and without PB underwent a complex clinical (Diagnostic Manual - Intellectual Disability) and instrumental (Reiss Screen for Maladaptive Behaviour; Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities). The prevalence of MDD was found to be significantly higher in the group with PB. The severity of depressive symptoms resulted to have a strong correlation with the scores of instrumental assessment of PB. Our findings support previous literature on a high association between PB and MDD in persons with ID and ASD. The level of the equivalency between specific MDD symptoms and different PB deserves further investigations.

Intelligence and specific cognitive functions in intellectual disability: implications for assessment and classification.

PURPOSE OF REVIEW: Current diagnostic criteria for intellectual disability categorize ability as measured by IQ tests. However, this does not suit the new conceptualization of intellectual disability, which refers to a range of neuropsychiatric syndromes that have in common early onset, cognitive impairments, and consequent deficits in learning and adaptive functioning. A literature review was undertaken on the concept of intelligence and whether it encompasses a range of specific cognitive functions to solve problems, which might be better reported as a profile, instead of an IQ, with implications for diagnosis and classification of intellectual disability. RECENT FINDINGS: Data support a model of intelligence consisting of distinct but related processes. Persons with intellectual disability with the same IQ level have different cognitive profiles, based on varying factors involved in aetiopathogenesis. Limitations of functioning and many biopsychological factors associated with intellectual disability are more highly correlated with impairments of specific cognitive functions than with overall IQ. SUMMARY: The current model of intelligence, based on IQ, is of limited utility for intellectual disability, given the wide range and variability of cognitive functions and adaptive capacities. Assessing level of individual impairment in executive and specific cognitive functions may be a more useful alternative. This has considerable implications for the revision of the International Classification of Diseases and for the cultural attitude towards intellectual disability in general.

"Intellectual developmental disorders": reflections on the international consensus document for redefining "mental retardation-intellectual disability" in ICD-11.

PURPOSE: The debate as to whether intellectual disability (ID) should be conceptualized as a health condition or as a disability has intensified as the revision of World Health Organization's (WHO's) International Classification of Diseases (ICD) is being finalized. Defining ID as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. The purpose of this paper is to include some reflections on the consensus document produced by the first WHO Working Group on the Classification of MR (WHO WG-MR) and on the process that was followed to realize it. The consensus report was the basis for the development of official recommendations sent to the WHO Advisory Group for ICD-11. DESIGN/METHODOLOGY/APPROACH: A mixed qualitative approach was followed in a series of meetings leading to the final consensus report submitted to the WHO Advisory group. These recommendations combined prior expert knowledge with available evidence; a nominal approach was followed throughout with face-to-face conferences. FINDINGS: The WG recommended a synonym set ("synset") ontological approach to the conceptualisation of this health condition underlying a clinical rationale for its diagnosis. It proposed replacing MR with Intellectual Developmental Disorders (IDD) in ICD-11, defined as "a group of developmental conditions characterized by a significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The WG further advised that IDD be included under the parent category of neurodevelopmental disorders, that current distinctions (mild, moderate, severe and profound) be continued as severity qualifiers, and that problem behaviours removed from its core classification structure and instead described as associated features. ORIGINALITY/VALUE: Within the ID/IDD synset two different names combine distinct aspects under a single construct that describes its clinical as well as social, educational and policy utilities. The single construct incorporates IDD as a clinical meta-syndrome, and ID as its functioning and disability counterpart. IDD and ID are not synonymous or mirror concepts as they have different scientific, social and policy applications. New diagnostic criteria for IDD should be based on a developmental approach, which accounts for the complex causal factors known to impact the acquisition of specific cognitive abilities and adaptive behaviours. The paper focuses on a new clinical framework for the diagnosis of IDD that also includes and complements the existing social, educational and policy components inherent in ID.

The person-centered health model in intellectual developmental disorders/intellectual disability

Background and Objectives: This paper analyses the different aspects related to the conceptualization and assessment of Intellectual Developmental Disorders / Intellectual Disability (IDD/ID) following the Person-centered Integrative Diagnostic (PID) model of the International Network for Person-centered Medicine, with a main emphasis on the health status and health self-perception. Methods: Conceptual paper, including expert opinions based on literature review. Results: The conceptualization of IDD/ID should shift the traditional over-reliance on the intelligence (IQ) score in favour of the daily life expression of specific cognitive functions and the determination of the levels of severity of intellectual functioning, that is currently based on the person's IQ score, should be reached through a system that is predicated on the person's satisfaction attainment towards life. The assessment of cognition should be aimed at identifying those dysfunctions that have the highest impact on individual behaviour, skills, adaptation, autonomy, and quality of life across the life span, highlighting personal cognitive strengths and weaknesses that can be worthwhile for the planning of effective interventions. Conclusions: Authors conclude that the application of the PID model to IDD/ID represents a prototypical example of how this approach can be useful for understanding complex constructs in health care. An overview of the main factors related to the implementation of the person-centered care model by health systems and services is also provided (AU)

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Is it normal to be a principal mindreader? Revising theories of social cognition on the basis of schizophrenia and high functioning autism-spectrum disorders.

Schizophrenia and high functioning autism-spectrum disorders (ASD) are neurodevelopmental conditions that mainly impair social competence, while general intelligence (IQ) is spared. Both disorders have a strong ancillary role in theoretical research on social cognition. Recently the debate has started to be inflected by embodied and phenomenological approaches, which claim that the standard portrayal of all social understanding as so-called 'mindreading', i.e. the attribution of mental states to others in the service of explaining and predicting their behavior, is misguided. Instead it is emphasized that we normally perceive others directly as conscious and goal-directed persons, without requiring any theorizing and/or simulation. This paper evaluates some of the implications of abnormal experiences reported by people with schizophrenia and ASD for the current debate in cognitive science. For these people the practice of explicit mindreading seems to be a compensatory strategy that ultimately fails to compensate for - and may even exacerbate - their impairment of intuitive and interactive social understanding. Phenomenological psychopathology thereby supports the emerging view that 'mindreading' is not the principal form of normal social understanding.