Pubmed du 31/08/20

lundi 31 août 2020

1. Clawson A, Strang JF, Wallace GL, Gomez-Lobo V, Jack A, Webb SJ, Pelphrey KA. Parent-Child Concordance on the Pubertal Development Scale in Typically Developing and Autistic Youth. Res Autism Spectr Disord ;2020 (Sep) ;77

BACKGROUND : Characterizing puberty in autism spectrum disorder (ASD) is critical given the direct impacts of pubertal progression on neural, cognitive, and physical maturation. Limited information is available about the utility and parent-child concordance of the self-report and parent-report Pubertal Development Scale (PDS) in ASD, an economical and easily administered measure. METHOD : The primary aim of this study was to examine the concordance between self-report and parent-report PDS ratings in autistic males and females ages 8-17y compared to typically developing (TD) youth, including using the PDS to derive informant-based estimates of adrenal and gonadal development. We hypothesized that there would be greater parent-youth discrepancies in pubertal ratings among autistic males. Our second aim was exploratory ; we examined whether individual characteristics impact PDS concordance and hypothesized that lower intellectual and adaptive skills, higher autistic traits, and reduced self-awareness/monitoring would correlate with lower concordance. RESULTS : There were no significant diagnostic group differences in parent-youth concordance for overall PDS scores among males and females. Autistic males had significantly lower inter-item agreement with their parents than TD males and had lower agreement for both adrenal and gonadal aspects of pubertal maturation (adrenal κ=.48 ; gonadal κ=.55). CONCLUSIONS : The PDS is a feasible measure in ASD. Greater parent-youth discrepancies in autistic males may be due to reduced parental awareness or reduced insight into pubertal maturation among autistic males. Future research is needed to further elucidate individual and/or environmental characteristics that influence youth- and parent-reported PDS scores, including differences in self-perception and insight.

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2. Crawford H, Scerif G, Wilde L, Beggs A, Stockton J, Sandhu P, Shelley L, Oliver C, McCleery J. Genetic modifiers in rare disorders : the case of fragile X syndrome. Eur J Hum Genet ;2020 (Aug 29)

Methods employed in genome-wide association studies are not feasible ways to explore genotype-phenotype associations in rare disorders due to limited statistical power. An alternative approach is to examine relationships among specific single nucleotide polymorphisms (SNPs), selected a priori, and behavioural characteristics. Here, we adopt this strategy to examine relationships between three SNPs (5-HTTLPR, MAOA, COMT) and specific clinically-relevant behaviours that are phenotypic of fragile X syndrome (FXS) but vary in severity and frequency across individuals. Sixty-four males with FXS participated in the current study. Data from standardised informant measures of challenging behaviour (defined as physical aggression, property destruction, stereotyped behaviour, and self-injury), autism symptomatology, attention-deficit-hyperactivity-disorder characteristics, repetitive behaviour and mood/interest and pleasure were compared between each SNP genotype. No association was observed between behavioural characteristics and either 5-HTTLPR (serotonin) or MAOA (monoamine oxidase) genotypes. However, compared to the COMT (dopamine) AG and GG genotypes, the AA genotype was associated with greater interest and pleasure in the environment, and with reduced risk for property destruction, stereotyped behaviour and compulsive behaviour. The results suggest that common genetic variation in the COMT genotype affecting dopamine levels in the brain may contribute to the variability of challenging and repetitive behaviours and interest and pleasure in this population. This study identifies a role for additional genetic risk in understanding the neural and genetic mechanisms contributing to phenotypic variability in neurodevelopmental disorders, and highlights the merit of investigating SNPs that are selected a priori on a theoretical basis in rare populations.

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3. Dias CM, Walsh CA. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet ;2020 (Aug 31) ;21:289-304.

Recent advances in understanding the genetic architecture of autism spectrum disorder have allowed for unprecedented insight into its biological underpinnings. New studies have elucidated the contributions of a variety of forms of genetic variation to autism susceptibility. While the roles of de novo copy number variants and single-nucleotide variants-causing loss-of-function or missense changes-have been increasingly recognized and refined, mosaic single-nucleotide variants have been implicated more recently in some cases. Moreover, inherited variants (including common variants) and, more recently, rare recessive inherited variants have come into greater focus. Finally, noncoding variants-both inherited and de novo-have been implicated in the last few years. This work has revealed a convergence of diverse genetic drivers on common biological pathways and has highlighted the ongoing importance of increasing sample size and experimental innovation. Continuing to synthesize these genetic findings with functional and phenotypic evidence and translating these discoveries to clinical care remain considerable challenges for the field.

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4. Ekinci O, İpek Baş SA, Ekinci N, Doğan Ö, Yaşöz C, Adak İ. Sluggish cognitive tempo is associated with autistic traits and anxiety disorder symptoms in children with attention-deficit/hyperactivity disorder. Braz J Psychiatry ;2020 (Aug 31)

OBJECTIVE : To investigate the association of sluggish cognitive tempo (SCT) with autistic traits (ATs) and anxiety disorder symptoms among children with attention-deficit/hyperactivity disorder (ADHD). METHODS : A total of 195 children with a DSM-5 diagnosis of ADHD were included. The Barkley Sluggish Cognitive Tempo Scale (BSCTS) was used to measure SCT symptoms. Other study measures included the Autism Spectrum Quotient (AQ), Screen for Child Anxiety and Related Disorders (SCARED), Turgay DSM-IV Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), and Conners’ Teacher Rating Scale (CTRS-R). RESULTS : The frequency of SCT was 30.3% (n=59) in the whole group. Those with SCT had higher total AQ and SCARED scores. Significant associations and correlations were also found between SCT and certain subscores of AQ and SCARED. According to the linear regression model, the total score and social skills, attention switching, and imagination scores of AQ, as well as generalized anxiety and panic/somatic scores of SCARED and the total and inattention scores of parent T-DSM-IV, were predictive of SCT total score (p < 0.05). CONCLUSIONS : SCT is associated with ATs and anxiety disorders. Children with ADHD and SCT symptoms should be screened for such conditions.

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5. Gaigg SB, Krug MK, Solomon M, Roestorf A, Derwent C, Anns S, Bowler DM, Rivera S, Nordahl CW, Jones EJH. Eye-Tracking Reveals Absent Repetition Learning Across the Autism Spectrum : Evidence From a Passive Viewing Task. Autism Res ;2020 (Aug 30)

In the domain of memory, autism is characterized by difficulties in explicitly remembering the specific order of stimuli, whereas implicit serial order memory appears to be preserved. This pattern is of considerable interest because serial order memory is known to play a critical role in children’s language development. Currently, however, few paradigms exist that can effectively probe serial order memory across heterogeneous groups of children, including those who are minimally verbal. We present two experiments, involving 39 adults (20 ASD ; 19 TD) and 130 children (86 ASD ; 44 TD), that address this issue using an eye-tracking paradigm, which simply required participants to "watch out for a bunny" that appeared in repeating sequences of screen locations. The adults in Experiment 1 all had normative IQs, whereas Experiment 2 included children with and without substantial language and intellectual difficulties. In both experiments gaze latencies and anticipatory fixations to the bunny indicated reliable repetition learning effects in the TD but not the ASD groups. Importantly, we were able to acquire reliable data from around half of the children with significant language impairments in Experiment 2, indicating that the paradigm can shed light on important learning processes in this underrepresented group. We discuss the implications of these findings for theories of memory in ASD as well as for the utility of eye-tracking technology to probe repetition learning effects in autism. LAY SUMMARY : Remembering the specific order of stimuli plays an important role in language development and is thought to be a source of difficulty for autistic individuals. Research in this area, however, rarely includes autistic participants who are minimally verbal. Here we develop an eye-tracking paradigm that demonstrates serial order learning difficulties across the autism spectrum. We discuss the implications of these findings for our understanding of the role of memory difficulties in the varied language profiles across the autism spectrum.

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6. Gerges P, Bitar T, Hawat M, Alameddine A, Soufia M, Andres CR, Hleihel W. Risk and Protective Factors in Autism Spectrum Disorders : A Case Control Study in the Lebanese Population. Int J Environ Res Public Health ;2020 (Aug 31) ;17(17)

Autism spectrum disorders (ASD) are among the most common childhood neurodevelopmental disorders. Identification of risk and protective factors are necessary to improve the guidance of prevention and intervention strategies. Our study aims to determine the potential risk and protective factors in ASD in the Lebanese population. Our case-control study included 100 ASD patients and 100 healthy matched controls recruited from all the Lebanese districts. The data collected from the questionnaires was analyzed using SPSS 23.0. Independent Student T-test and Chi-Square test were carried out for the bivariate analysis of the data. In addition, the variables revealing a p-value < 0.05 were used for the multivariate logistic regression analysis. Multivitamins intake, especially omega 3 and vitamin B (Odds Ratio (OR) = 0.257 ; 95% Confidence Interval (CI) [0.115-0.579]), rich cereal diet (OR = 0.212 ; 95% CI [0.089-0.510]), and supplementation in iron during pregnancy (OR = 0.229 ; 95% CI [0.083-0.627]) were identified as protective factors against ASD. On the other hand, stress during pregnancy (OR = 6.339 ; 95% CI [2.845-14.125]), the presence of ASD patients in the family (OR = 7.878 ; 95% CI [1.877-33.065]) and the presence of attention deficit hyperactivity disorder (ADHD) patients in the family (OR = 6.981 ; 95% CI [1.362-35.789]) were associated with ASD. This study shed light on risk and protective factors associated with ASD in the Lebanese population. Further rigorous research, taking into consideration these factors, is needed to assist in early detection, prevention and subsequent intervention targeting ASD and its associated comorbidities, given that our study is not experimental and does not prove causality.

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7. Hampton LH, Roberts MY, Anderson E, Hobson AN, Kaat AJ, Bishop SL, Krogh-Jespersen S, Wakschlag LS, Bevans KB. Brief Report : What Diagnostic Observation Can Teach Us About Disruptive Behavior in Young Children with Autism. J Dev Behav Pediatr ;2020 (Aug 31)

OBJECTIVE : Approximately 50% of children with autism exhibit severe tantrums, defiance, and/or aggression. We propose that the Disruptive Behavior Diagnostic Observation Schedule (DB-DOS)-a standardized clinical observation modeled after, and complementary to, the Autism Diagnostic Observation Schedule (ADOS)-could enhance earlier identification of disruptive behavior (DB) in autism populations and inform treatment planning. METHODS : We adapted the DB-DOS for children with autism based on expert input and preliminary feasibility testing to accommodate varying cognitive and social communication capacities and increase the likelihood of observing DB in this population. Thereafter, we concurrently administered the modified DB-DOS and the ADOS to 12 children with autism aged 36 to 50 months. RESULTS : Overall, children exhibited greater DB, especially behavioral regulation challenges, during the DB-DOS than during the ADOS. CONCLUSION : The use of a developmentally sensitive standardized observation tool that presses for DB to complement standardized observations such as the ADOS shows promise for enabling more precise research on targeted DB interventions. Such a tool holds promise as a reliable and efficient method of identifying comorbid DB disorders in the autism population.

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8. Hilvert E, Davidson D, Gámez PB. Assessment of Personal Narrative Writing in Children with and without Autism Spectrum Disorder. Res Autism Spectr Disord ;2020 (Jan) ;69

BACKGROUND : Research has demonstrated that writing may be challenging for many children with Autism Spectrum Disorder (ASD ; Mayes & Calhoun, 2006). In our study, we used linguistic analysis to identify and examine the personal narrative writing skills of children with ASD in comparison to neurotypical (NT) children. METHOD : This study included 22 children with ASD and 22 NT children. Groups did not differ in terms of age, IQ, and language. Writing samples were coded and compared for aspects of microstructure (e.g., lexical and syntactic complexity, errors) and macrostructure (e.g., quality, or ratings of coherence, structure, and content). We also examined the link between theory of mind (ToM) and personal narrative writing. Of interest was whether ToM uniquely predicted writing performance after controlling for diagnostic group, chronological age, and language ability. RESULTS : The texts of children with ASD were less syntactically diverse, contained more grammatical errors, and were reduced in overall quality compared to NT children. However, children with ASD did not differ from NT children in terms of lexical complexity, frequency of writing conventions errors, and use of evaluative devices. Overall, ToM uniquely predicted syntactic complexity and text quality in children. CONCLUSIONS : Study findings showed that children with ASD demonstrate some challenges with personal narrative writing compared to NT children. Additionally, difficulty with narrative writing was linked to poorer ToM performance, particularly in children with ASD. Findings highlight the utility of obtaining a variety of writing outcomes, as well as mechanisms related to writing, when evaluating writing for educational decisions.

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9. Lefevre A, Richard N, Mottolese R, Leboyer M, Sirigu A. An Association Between Serotonin 1A Receptor, Gray Matter Volume, and Sociability in Healthy Subjects and in Autism Spectrum Disorder. Autism Res ;2020 (Aug 30)

Central serotonin is an important molecular pathway, involved in the regulation of social behavior and gray matter volume (GMV). In men with autism spectrum disorders (ASD), the serotonergic system and the GMV have been found disrupted. Here, we investigated the relation between serotonin, GMV, and social personality in men with typical development (TD) and in men with ASD. We combined anatomical magnetic resonance imaging, Positron emission tomography scan with 2’-methoxyphenyl-(N-2’-pyridinyl)-p-18F-fluoro-benzamidoethylpiperazine radioligand and revised NEO personality inventory personality questionnaire to examine the association between serotonin 1A receptor (5-HT(1A) R) binding potential, GMV and social personality in 24 adult male TD subjects and 18 male men with ASD. In both groups, we found a positive correlation between 5-HT(1A) R binding potential and GMV in a region dependent manner. In the TD group, we observed a negative correlation between 5-HT(1A) R and GMV in the left and right posterior putamen. 5HT(1A) R binding and GMV in the putamen further correlated with social personality scores in the TD group. None of these associations were found in men with ASD, although no differences were observed for 5-HT(1A) R concentration among the two groups. Our findings point to a deregulation of 5-HT(1A) R density in the striatum of men with ASD, a failure that might contribute to their social disturbances. Serotonin is suspected to be involved in the pathophysiology of autism. We provide evidence for a role of serotonin 1A receptor in social behavior through a specific regulation of GMV in the putamen region in neurotypical subjects but not in men with autism. This suggests a potential impairment of the serotonergic system in men with autism which may contribute to patients’ social disturbances. Our findings suggest further investigation on the role of serotonin 1A receptor and its activity in the striatum to regulate social behavior. LAY SUMMARY : Serotonin is suspected to be involved in the pathophysiology of autism. We provide evidence for a role of serotonin 1A receptor in social behavior through a specific regulation of gray matter volume in the putamen region in neurotypical subjects but not in men with autism. This suggests a potential impairment of the serotonergic system in men with autism which may contribute to patients’ social disturbances. Our findings suggest further investigation on the role of serotonin 1A receptor and its activity in the striatum to regulate social behavior.

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10. Nogay HS, Adeli H. Machine learning (ML) for the diagnosis of autism spectrum disorder (ASD) using brain imaging. Rev Neurosci ;2020 (Aug 31)

Autism spectrum disorder (ASD) is a neurodevelopmental incurable disorder with a long diagnostic period encountered in the early years of life. If diagnosed early, the negative effects of this disease can be reduced by starting special education early. Machine learning (ML), an increasingly ubiquitous technology, can be applied for the early diagnosis of ASD. The aim of this study is to examine and provide a comprehensive state-of-the-art review of ML research for the diagnosis of ASD based on (a) structural magnetic resonance image (MRI), (b) functional MRI and (c) hybrid imaging techniques over the past decade. The accuracy of the studies with a large number of participants is in general lower than those with fewer participants leading to the conclusion that further large-scale studies are needed. An examination of the age of the participants shows that the accuracy of the automated diagnosis of ASD is higher at a younger age range. ML technology is expected to contribute significantly to the early and rapid diagnosis of ASD in the coming years and become available to clinicians in the near future. This review is aimed to facilitate that.

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11. Radhakrishnan M, Won D, Manoharan TA, Venkatachalam V, Chavan RM, Nalla HD. Investigating electroencephalography signals of autism spectrum disorder (ASD) using Higuchi Fractal Dimension. Biomed Tech (Berl) ;2020 (Aug 31)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a deficit of social relationships, interaction, sense of imagination, and constrained interests. Early diagnosis of ASD will aid in devising appropriate training procedures and placing those children in the normal stream. The objective of this research is to analyze the brain response for auditory/visual stimuli in Typically Developing (TD) and children with autism through electroencephalography (EEG). Brain dynamics in the EEG signal can be analyzed well with the help of nonlinear feature primitives. Recent research reveals that, application of fractal-based techniques proves to be effective to estimate of degree of nonlinearity in a signal. This research attempts to analyze the effect of brain dynamics with Higuchi Fractal Dimension (HFD). Also, the performance of the fractal based techniques depends on the selection of proper hyper-parameters involved in it. One of the key parameters involved in computation of HFD is the time interval parameter ’k’. Most of the researches arbitrarily fixes the value of ’k’ in the range of all channels. This research proposes an algorithm to estimate the optimal value of the time parameter for each channel. Sub-band analysis was also carried out for the responding channels. Statistical analysis on the experimental reveals that a difference of 30% was observed between autistic and Typically Developing children.

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12. Ruble LA, Love AMA, Wong V, Grisham-Brown JL, McGrew JH. Implementation Fidelity and Common Elements of High Quality Teaching Sequences for Students with Autism Spectrum Disorder in COMPASS. Res Autism Spectr Disord ;2020 (Mar) ;71

BACKGROUND : Evidence-based educational instruction includes teaching elements common across different approaches as well as specific elements of the chosen evidence-based practice. We were interested in evaluating the use and impact of common elements of teaching. Specifically, we adopted a model of elements of high quality teaching sequences and developed and tested an instructional quality index to capture evidence-based features within teaching sequences (Grisham-Brown & Ruble, 2014). METHOD : The current investigation examined 29 special education teachers who received a consultation intervention called the Collaborative Model for Promoting Competence and Success (COMPASS ; Ruble, Dalrymple & McGrew, 2012) that results in personalized teaching plans for young students with ASD and embeds elements of evidence-based teacher coaching of self-reflection and performance-based feedback. We analyzed the teaching plans to understand which of the common elements were present, and if teachers demonstrated improved performance after coaching. RESULTS : Analysis of the use of common elements during the first and fourth coaching session demonstrated that all teachers showed improvement. Most importantly, the use of common elements correlated with student goal attainment outcomes. CONCLUSIONS : These results suggest that common elements of teaching sequences which we view as core features of teaching quality, can be improved as a result of coaching, and most importantly, are associated with students’ educational outcomes.

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13. Singh J, Lanzarini E, Santosh P. Organic Features of Autonomic Dysregulation in Paediatric Brain Injury - Clinical and Research Implications for the Management of Patients with Rett Syndrome. Neurosci Biobehav Rev ;2020 (Aug 27)

Rett Syndrome (RTT) is a complex neurodevelopmental disorder with autonomic nervous system dysfunction. The understanding of this autonomic dysregulation remains incomplete and treatment recommendations are lacking. By searching literature regarding childhood brain injury, we wanted to see whether understanding autonomic dysregulation following childhood brain injury as a prototype can help us better understand the autonomic dysregulation in RTT. Thirty-one (31) articles were identified and following thematic analysis the three main themes that emerged were (A) Recognition of Autonomic Dysregulation, (B) Possible Mechanisms & Assessment of Autonomic Dysregulation and (C) Treatment of Autonomic Dysregulation. We conclude that in patients with RTT (I) anatomically, thalamic and hypothalamic function should be explored, (II) sensory issues and medication induced side effects that can worsen autonomic function should be considered, and (III) diaphoresis and dystonia ought to be better managed. Our synthesis of data from autonomic dysregulation in paediatric brain injury has led to increased knowledge and a better understanding of its underpinnings, leading to the development of application protocols in children with RTT.

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14. Tillmann J, Uljarevic M, Crawley D, Dumas G, Loth E, Murphy D, Buitelaar J, Charman T. Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder : a factor mixture modelling approach. Mol Autism ;2020 (Aug 31) ;11(1):67.

BACKGROUND : Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent in the profile and the severity of sensory features. Here, we applied factor mixture modelling (FMM) to test a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables : sex, age, IQ, social-communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and attention-deficit/hyperactivity disorder. METHODS : Three hundred thirty-two children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile (SSP). Then, latent class models (with two-to-six subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups : a two-subgroup, seven-factor model and a three-subgroup and seven-factor model. RESULTS : The ’three-subgroup/seven-factor’ FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety. LIMITATIONS : Results were derived using a single parent-report measure of sensory features, the SSP, which limits the generalisability of findings. CONCLUSION : Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD.

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15. Viljoen M, Mahdi S, Shelly J, de Vries PJ. Parental perspectives of functioning in their children with autism spectrum disorder : A global scoping review. Autism ;2020 (Aug 30):1362361320950055.

No paper to date has summarized parents’ views on the functional challenges and/or strengths of their children with autism spectrum disorder. In this review we set out to perform a scoping review aiming to (a) find and compare existing research from around the globe on parental perception of functioning and (b) summarize results from these papers using the International Classification of Functioning Disability and Health-Child and Youth version framework. Since we know that the place and circumstances we live in can have a significant influence on our functioning in daily life, we were specifically interested in comparing perceptions from high-income countries and low-/middle-income countries. Two researchers conducted a comprehensive search of English studies published between 1990 and June 2016. Papers were summarized and key findings were linked to International Classification of Functioning Disability and Health-Child and Youth categories. Thirty-three studies were identified, of which most were conducted in high-income countries (n = 25/33, 76%) with only six studies in low/middle-income countries (n = 6/33, 18%). Two studies compared views from low/middle-income and high-income countries (n = 2/33, 6%). Functional themes from high-income countries included a range across the International Classification of Functioning Disability and Health-Child and Youth framework while functional themes from low-/middle-income countries were mostly focused on environmental factors. It was difficult to directly compare studies from low/middle-income and high-income countries because they investigated and discussed such different parts of functioning. We suggest that future research should use an approach that will allow researchers to directly compare functional categories in order to get a more accurate impression of the impact of context on functioning.

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