1. Anglim M, Conway EV, Barry M, Kashif M, Ackermann P, Moran A, O’Connell AS, Guerin S. {{An initial examination of the psychometric properties of the Diagnostic Instrument for Social and Communication Disorders (DISCO-11) in a clinical sample of children with a diagnosis of Autism spectrum disorder}}. {Irish journal of psychological medicine}. 2020: 1-10.
INTRODUCTION: The diagnostic interview for social and communication disorders (DISCO – 11; Wing 2006), is a semi-structured, interview-based instrument used in the diagnosis of children with autism spectrum disorder (ASD). This paper explores the psychometric properties of the DISCO-11 used in a specialist Paediatric clinical setting. Two key research questions were examined; (1) Does the factor structure of the DISCO-11 reflect the diagnostic and statistical manual 5th edition (DSM-5, American Psychiatric Association [APA], 2013) dyad of impairment in ASD? (2) Is there evidence of diagnostic stability over time using the DISCO? METHODS: Review assessments of 65 children with ASD were carried out using standardised measures including the DISCO-11 and the autism diagnostic observation schedule. RESULTS: The results revealed two factors resembling the DSM-5 algorithms, as used in DISCO-11, which were named as social-communication, and restricted and repetitive behaviours. The reliability, for the overall DISCO score was good (Cronbach’s alpha = 0.78). The social communication and social interaction subscale showed good reliability (Cronbach’s Alpha = 0.77) as did the restricted and repetitive patterns of behaviour, interests or activities subscale (Cronbach’s Alpha = 0.74). Acceptable internal reliability was found for the overall DISCO score and the subscales of social communication and social interaction and the restricted and repetitive patterns of behaviour, interests or activities. Test-retest showed good stability of diagnosis over time. DISCUSSION: This study supports that the DISCO-11 shows potential as a valid and reliable instrument that can be used both for clinical and research purposes.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bolis D, Lahnakoski J, Seidel D, Tamm J, Schilbach L. {{Interpersonal Similarity Of Autistic Traits Predicts Friendship Quality}}. {Soc Cogn Affect Neurosci}. 2020.
Autistic traits are known to be associated with social interaction difficulties. Yet, somewhat paradoxically, relevant research has been typically restricted to studying individuals. In line with the ‘dialectical misattunement hypothesis’ and clinical insights of intact social interactions amongst autistic individuals, we hypothesized that friendship quality varies as a function of interpersonal similarity and more concretely the difference value of autistic traits in a dyad, above and beyond autistic traits per se. Therefore, in this study, we used self-report questionnaires to investigate these measures in a sample of 67 neurotypical dyads across a broad range of autistic traits. Our results demonstrate that the more similar two persons are in autistic traits, the higher is the perceived quality of their friendship, irrespective of friendship duration, age, sex and importantly, the (average of) autistic traits in a given dyad. More specifically, higher interpersonal similarity of autistic traits was associated with higher measures of closeness, acceptance and help. These results, therefore, lend support to the idea of an interactive turn in the study of social abilities across the autism spectrum and pave the way for future studies on the multiscale dynamics of social interactions.
Lien vers le texte intégral (Open Access ou abonnement)
3. Fong V, Gardiner E, Iarocci G. {{Satisfaction with informal supports predicts resilience in families of children with autism spectrum disorder}}. {Autism}. 2020: 1362361320962677.
The study of resilience among individuals with disabilities and their families represents a paradigmatic shift from a deficits orientation towards a more holistic and contextualized approach focused on strength and adaptation. The current study investigated whether informal supports could help improve families’ capacity for resilience. We recruited 153 caregivers of children aged between 2 and 18 years who all had a diagnosis of autism. Participants were asked to complete surveys assessing resilience in their families as well as their satisfaction with informal supports (e.g. friends and family). Families more likely to report higher satisfaction with their informal support networks demonstrate greater resilience. The results suggest that informal social supports are a valuable resource for families in strengthening their capacity for resilience. The findings may help inform the development of interventions and services that work collaboratively and innovatively with families and their social networks to provide assistance and support in meaningful and effective ways.
Lien vers le texte intégral (Open Access ou abonnement)
4. Galvin J, Howes A, McCarthy B, Richards G. {{Self-compassion as a mediator of the association between autistic traits and depressive/anxious symptomatology}}. {Autism}. 2020: 1362361320966853.
In this study, we asked 164 undergraduate students to complete an online questionnaire. The questionnaire measured the students’ levels of autistic traits, self-compassion, and experience of anxiety and depression. We were interested in knowing if self-compassion (defined as the extension of kindness to oneself when faced with challenges) had any influence on the relationship between autistic traits and experiences of anxiety and depression. The results of the study indicated that self-compassion may be an important factor influencing the relationship between autistic traits and mental health, with higher levels of self-compassion being related to more positive mental health outcomes. Although the findings should be considered preliminary in nature, they do suggest that self-compassion could potentially be a target for clinical intervention in people with elevated autistic traits and experience anxiety and/or depression.
Lien vers le texte intégral (Open Access ou abonnement)
5. Griffin JW, Bauer R, Scherf KS. {{A quantitative meta-analysis of face recognition deficits in autism: 40 years of research}}. {Psychological bulletin}. 2020.
The ability to recognize an individual face is essential to human social interaction. Even subtle errors in this process can have huge implications for the way we relate to social partners. Because autism spectrum disorder (ASD) is characterized by deficits in social interaction, researchers have theorized about the potential role of atypical face identity processing to the symptom profile of ASD for more than 40 years. We conducted an empirical meta-analysis of this large literature to determine whether and to what extent face identity processing is atypical in ASD compared to typically developing (TD) individuals. We also tested the hypotheses that the deficit is selective to face identity recognition, not perception, and that methodological variation across studies moderates the magnitude of the estimated deficit. We identified 112 studies (5,390 participants) that generated 172 effect sizes from both recognition (k = 119) and discrimination (k = 53) paradigms. We used state-of-the-art approaches for assessing the validity and robustness of the analyses. We found comparable and large deficits in ASD for both face identity recognition (Hedge’s g = -0.86) and discrimination (Hedge’s g = -0.82). This means that the score of an average ASD individual is nearly 1 SD below the average TD individual on tasks assessing both aspects of face identity processing. These deficits generalize across age groups, sex, IQ scores, and task paradigms. These findings suggest that deficits in face identity processing may represent a core deficit in ASD. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
Lien vers le texte intégral (Open Access ou abonnement)
6. Montez ARH, Bizarra MF, Graça SR. {{Evaluation of oral characteristics and oral health of individuals with fragile X syndrome and related guardians perceptions}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2020.
OBJECTIVES: To relate the oral health of individuals with fragile X syndrome (FXS) with their oral characteristics, habits, and difficulties in terms of oral hygiene and the perception of oral health of the guardians. METHODS AND RESULTS: This observational transversal study included 31 volunteers who belong to the Portuguese Fragile X Syndrome Association. A questionnaire was presented to guardians, and a head and neck and oral examination was performed to the individuals: decay, missing and filled teeth index (DMFT) = 4.65, gingival index (GI) = 1.01, and simplified oral hygiene index (OHI-S) = 2.26 and Malocclusion Class Angle II (61.3%) with dental aesthetic index 34.90. A high-arch narrow palate (71%), accentuated gagging reflex (45.2%), and bruxism (22.6%) were the most common oral characteristics. There was a negative correlation between the several behaviors, attitudes, and habits reported by the guardians and all the indexes of oral health, with significance to the DMFT (P = .032), missing teeth (P = .032), and GI (P = .04). CONCLUSION: There was a variability in oral characteristics, and these can represent a difficulty in performing oral hygiene. The collected data provide information for the health professionals and guardians to guide the monitoring of patients with FXS as well as to create strategies to improve oral hygiene.
Lien vers le texte intégral (Open Access ou abonnement)
7. Peron A, Canevini MP, Ghelma F, Arancio R, Savini MN, Vignoli A. {{Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition}}. {Journal of medical genetics}. 2020.
BACKGROUND: Rett syndrome is a complex genetic disorder with age-specific manifestations and over half of the patients surviving into middle age. However, little information about the phenotype of adult individuals with Rett syndrome is available, and mainly relies on questionnaires completed by caregivers. Here, we assess the clinical manifestations and management of adult patients with Rett syndrome and present our experience in transitioning from the paediatric to the adult clinic. METHODS: We analysed the medical records and molecular data of women aged ≥18 years with a diagnosis of classic Rett syndrome and/or pathogenic variants in MECP2, CDKL5 and FOXG1, who were in charge of our clinic. RESULTS: Of the 50 women with classic Rett syndrome, 94% had epilepsy (26% drug-resistant), 20% showed extrapyramidal signs, 40% sleep problems and 36% behavioural disorders. Eighty-six % patients exhibited gastrointestinal problems; 70% had scoliosis and 90% low bone density. Breathing irregularities were diagnosed in 60%. None of the patients had cardiac issues. CDKL5 patients experienced fewer breathing abnormalities than women with classic Rett syndrome. CONCLUSION: The delineation of an adult phenotype in Rett syndrome demonstrates the importance of a transitional programme and the need of a dedicated multidisciplinary team to optimise the clinical management of these patients.
Lien vers le texte intégral (Open Access ou abonnement)
8. Taylor BJ, Reynolds CF, 3rd, Siegel M. {{Insomnia subtypes and clinical impairment in hospitalized children with autism spectrum disorder}}. {Autism}. 2020: 1362361320967524.
Insomnia subtypes are not well understood in the most severely affected children with autism spectrum disorder. We examined length of hospital stay, autism severity, nonverbal intelligence quotient, and behavioral functioning across insomnia subtypes in 427 psychiatrically hospitalized children with autism spectrum disorder (mean age = 12.8 ± 3.4; 81.3% male). Per parent report, 60% (n = 257) of children had at least one type of insomnia. The distribution of subtypes was difficulty falling asleep (26.1%, n = 67), difficulty staying asleep (24.9%, n = 64), early morning awakening (4.3%, n = 11), and multiple insomnia symptoms (44.7%, n = 115). Difficulty staying asleep and early morning awakenings were associated with longer hospital stays. Early morning awakening was also associated with higher autism symptom severity. In general, children with difficulty staying asleep or multiple insomnia symptoms scored lower on adaptive behaviors (e.g. communication, self-care, socialization) and higher on maladaptive behaviors (e.g. irritability, hyperactivity, emotional reactivity, and emotional dysphoria). Difficulty staying asleep or having multiple insomnia symptoms appears to be most strongly related to impaired behavioral functioning. Conversely, early morning awakenings may be more closely tied with autism spectrum disorder itself. Further research is needed regarding insomnia subtypes at the severe end of the autism spectrum.
Lien vers le texte intégral (Open Access ou abonnement)
9. Xie S, Karlsson H, Dalman C, Widman L, Rai D, Gardner RM, Magnusson C, Sandin S, Tabb LP, Newschaffer CJ, Lee BK. {{The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child’s odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD - ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies.
