Pubmed du 20/01/20

lundi 20 janvier 2020

1. Balboni G, Mumbardo-Adam C, Coscarelli A. Influence of adaptive behaviour on the quality of life of adults with intellectual and developmental disabilities. J Appl Res Intellect Disabil ;2020 (Jan 20)

BACKGROUND : This study evaluated the role of adaptive behaviour, individual variables (age, gender and problem behaviours) and environmental variables (living arrangements, employment status and city dimension) in affecting the quality of life of individuals with IDD measured from third-party (caregiver) and individuals with IDD’ perspective. METHOD : For 93 adults with an IDD diagnosis (47% males) aged 19-65 years, third-party and participants’ perspective on participants’ quality of life (Personal Outcome Scale), adaptive behaviour (Vineland-II scale), problem behaviours (PIMRA and DASH-II scales), and individual and environmental variables were collected. RESULTS : Adaptive behaviour was the main determinant of quality of life for individuals with IDD. The effect of adaptive behaviour was significant and relevant from both third-party and participants’ perspectives. Problem behaviours had a modest negative impact on the quality of life. CONCLUSIONS : Adaptive behaviour is relevant for planning support and interventions for people with IDD to increase their quality of life.

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2. Crow AJD, Janssen JM, Vickers KL, Parish-Morris J, Moberg PJ, Roalf DR. Olfactory Dysfunction in Neurodevelopmental Disorders : A Meta-analytic Review of Autism Spectrum Disorders, Attention Deficit/Hyperactivity Disorder and Obsessive-Compulsive Disorder. J Autism Dev Disord ;2020 (Jan 20)

Olfactory dysfunction is recognized in neurodevelopmental disorders and may serve as an early indicator of global dysfunction. The present meta-analysis measures olfaction effect sizes in attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), and obsessive-compulsive disorder (OCD). Meta-analysis included 320 ADHD, 346 ASD, and 208 OCD individuals as compared to 910 controls. Olfactory performance deficits were small-to-moderate and heterogeneous (d = - 0.42, 95% CI = - 0.59 < delta < - 0.25). Meta-analytic results indicate that olfactory dysfunction is evident in individuals with ASD and OCD, with small-to-negligible effects in ADHD. These findings imply olfactory dysfunction is related to clinical phenotype in ASD and OCD, but not ADHD, and warrant inclusion in clinical assessment and evaluation of certain neurodevelopmental disorders.

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3. Garrido D, Carballo G, Garcia-Retamero R. Siblings of children with autism spectrum disorders : social support and family quality of life. Qual Life Res ;2020 (Jan 20)

PURPOSE : Autism spectrum disorder (ASD) often has a significant impact on all family members, including parents and siblings of the person who suffers the disorder. This case-control study explores potential factors that help explain the impact of having an older sibling with ASD on several developmental domains, and to test whether these factors could explain their satisfaction on family quality of life (FQoL). METHODS : A total of 78 unaffected siblings of children with ASD (Sibs-ASD) and siblings of children with typical development (Sibs-TD) from 6 to 12 years old were evaluated. RESULTS : Our analyses show significant differences between groups in motor skills, severity of autistic traits, satisfaction on FQoL, and social support (ps < .05). Moreover, social support acts as positive factor protecting from the negative effect of having a sibling with ASD on satisfaction of FQoL (R(2) = .32). CONCLUSIONS : Our findings highlight the variability in the developmental abilities of the unaffected school-age children with familiar risk factors and emphasize the need for supervising development of all Sibs-ASD over different time points. Social support may be a critical aspect to consider in interventions for improving the satisfaction on FQoL.

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4. Leader G, Tuohy E, Chen JL, Mannion A, Gilroy SP. Feeding Problems, Gastrointestinal Symptoms, Challenging Behavior and Sensory Issues in Children and Adolescents with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Jan 18)

Frequency of feeding problems, gastrointestinal (GI) symptoms, challenging behavior, sensory problems and comorbid psychopathology were assessed using the following questionnaires : Screening Tool for Feeding Problems for Children, GI Symptoms Inventory, Behavior Problems Inventory Short Form, Short Sensory Profile, and Autism Spectrum Disorder-Comorbidity Child (ASD-CC) in 136 children and adolescents with ASD. Eighty-four percent had food selectivity, followed by food refusal (78.7%), rapid eating (76.5%), chewing problems (60.3%), food stealing (49.3%) and vomiting (19.1%). Higher rates of GI symptoms, challenging behavior, and sensory issues were found in those who presented with rapid eating, food refusal and food stealing than those without these problems. Comorbid psychopathology predicted rapid eating, food selectivity and food refusal.

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5. Mac Carthaigh S, Lopez B. Factually based autism awareness campaigns may not always be effective in changing attitudes towards autism : Evidence from British and South Korean nursing students. Autism ;2020 (Jan 20):1362361319898362.

LAY ABSTRACT : This study explored the relationship between autism knowledge, autistic traits, frequency of contact with autistic people and attitudes towards these individuals in British and South Korean student nurses and whether these relationships were affected by the presence of autistic traits. In total, 331 participants (156 South Korean and 175 British) completed self-report measures of autism knowledge, attitudes towards autistic people, frequency of contact with these individuals and autistic traits. Although British participants demonstrated greater knowledge and more favourable attitudes, significant knowledge gaps were noted in both groups. Among British participants, knowledge was found to be only a marginal predictor of attitudes, whereas neither knowledge nor frequency of contact were predictive of attitudes among South Korean participants. Contrary to previous research findings, cultural differences in the presence of autistic traits were not noted, nor were these traits found to be related to attitudes towards autistic people. The findings suggest that awareness initiatives which aim to address attitudes towards autism need more than simply increasing factual knowledge. More importantly, the results suggest that Western-developed autism awareness initiatives may be ineffectual if cultural differences are not considered.

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6. McCormick CEB, Kavanaugh BC, Sipsock D, Righi G, Oberman LM, Moreno De Luca D, Gamsiz Uzun ED, Best CR, Jerskey BA, Quinn JG, Jewel SB, Wu PC, McLean RL, Levine TP, Tokadjian H, Perkins KA, Clarke EB, Dunn B, Gerber AH, Tenenbaum EJ, Anders TF, Sheinkopf SJ, Morrow EM. Autism Heterogeneity in a Densely Sampled U.S. Population : Results From the First 1,000 Participants in the RI-CART Study. Autism Res ;2020 (Jan 20)

The objective of this study was to establish a large, densely sampled, U.S. population-based cohort of people with autism spectrum disorder (ASD). The Rhode Island Consortium for Autism Research and Treatment (RI-CART) represents a unique public-private-academic collaboration involving all major points of service for families in Rhode Island affected by ASD. Diagnosis was based on direct behavioral observation via the Autism Diagnostic Observation Schedule, Second Edition. For the first 1,000 participants, ages ranged from 21 months to 64 years. Using Geographic Information System and published prevalence rates, the overall cohort is estimated to represent between 20% and 49% of pediatric age persons in Rhode Island with ASD, with demographics representative of U.S. Census. We observed a high rate of co-occurring medical and psychiatric conditions in affected individuals. Among the most prominent findings of immediate clinical importance, we found that females received a first diagnosis of ASD at a later age than males, potentially due to more advanced language abilities in females with ASD. In summary, this is the first analysis of a large, population-based U.S. cohort with ASD. Given the depth of sampling, the RI-CART study reflects an important new resource for studying ASD in a representative U.S. population. Psychiatric and medical comorbidities in ASD constitute a substantial burden and warrant adequate attention as part of overall treatment. Our study also suggests that new strategies for earlier diagnosis of ASD in females may be warranted. LAY SUMMARY : The Rhode Island Consortium for Autism Research and Treatment (RI-CART) represents a unique public-private-academic collaboration involving all major points of service for families in Rhode Island affected by autism spectrum disorder (ASD). In this article, we provide results from the first 1,000 participants, estimated to represent >20% of affected families in the state. Importantly, we find a later age at first diagnosis of ASD in females, which potentially calls attention to the need for improved early diagnosis in girls. Also, we report a high rate of co-occurring medical and psychiatric conditions in affected individuals.

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7. Nordahl CW, Iosif AM, Young GS, Hechtman A, Heath B, Lee JK, Libero L, Reinhardt VP, Winder-Patel B, Amaral DG, Rogers S, Solomon M, Ozonoff S. High Psychopathology Subgroup in Young Children With Autism : Associations With Biological Sex and Amygdala Volume. J Am Acad Child Adolesc Psychiatry ;2020 (Jan 20)

OBJECTIVE : 1) To identify a subset of children with autism spectrum disorder (ASD) and co-occurring symptoms of psychopathology. 2) To evaluate associations between this subgroup and biological sex and amygdala volume. METHOD : Participants included 420 children (ASD : 91 girls, 209 boys ; typically developing controls : 57 girls, 63 boys). Latent profile analysis was used to identify ASD subgroups based on symptoms of psychopathology, adaptive functioning, cognitive development, and autism severity. Sex differences in the proportion of girls and boys in each subgroup were evaluated. MRI scans were acquired (346 children) ; amygdala volumes were evaluated in relation to subgroups and problem behavior scores. RESULTS : Three ASD subgroups were identified ; one was characterized by high levels of psychopathology and moderate impairment on other measures (High Psychopathology Moderate Impairments [HPMI], comprising 27% of the sample). The other two subgroups had lower symptoms of psychopathology but were differentiated by high and low levels of impairment on other measures. A higher proportion of girls were classified into the HPMI subgroup (40% of girls vs. 22% of boys). Relative to controls, amygdala volumes were enlarged only in the HPMI subgroup, other subgroups did not differ. There was a positive association between right amygdala volume and internalizing behaviors in girls but not boys with ASD. CONCLUSION : A higher proportion of girls with ASD faced greater challenges with psychopathology, suggesting a need for closer evaluation and potentially earlier intervention to help improve outcomes. Amygdala enlargement was associated with co-occurring symptoms of psychopathology and sex-specific correlations with symptoms were observed.

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8. Sarmukadam K, Bitsika V, Sharpley CF, McMillan MME, Agnew LL. Comparing Different EEG Connectivity Methods in Young Males with ASD. Behav Brain Res ;2020 (Jan 20):112482.

Although EEG connectivity data are often used to build models of the association between overt behavioural signs of Autism Spectrum Disorder (ASD) and underlying brain connectivity indices, use of a large number of possible connectivity methods across studies has produced a fairly inconsistent set of results regarding this association. To explore the level of agreement between results from five commonly-used EEG connectivity models (i.e., Coherence, Weighted Phased Lag Index- Debiased, Phase Locking Value, Phase Slope Index, Granger Causality), a sample of 41 young males with ASD provided EEG data under eyes-opened and eyes-closed conditions. There were relatively few statistically significant and/or meaningful correlations between the results obtained from the five connectivity methods, arguing for a re-estimation of the methodology used in such studies so that specific connectivity methods may be matched to particular research questions regarding the links between neural connectivity and overt behaviour within this population.

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9. Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur J Med Genet ;2020 (Jan 16):103850.

The Jumonji domain containing 1C (JMJD1C) gene encodes the Jumonji domain-containing protein 1C (JMJD1C) and is a member of the jmJC domain-containing protein family involved in histone demethylation that is expressed in the brain. We report seven, unrelated patients with developmental delays or intellectual disability and heterozygous, de novo sequence variants in JMJD1C. All patients had developmental delays, but there were no consistent additional findings. Two patients were reported to have seizures for which there was no other identified cause. De novo, deleterious sequence variants in JMJD1C have previously been reported in patients with autism spectrum disorder and a phenotype resembling classical Rett syndrome, but only one JMJD1C variant has undergone functional evaluation. In all of the seven patients in this report, there was a plausible, alternative explanation for the neurocognitive phenotype or a modifying factor, such as an additional potentially pathogenic variant, presence of the variant in a population database, heteroplasmy for a mitochondrial variant or mosaicism for the JMJD1C variant. Although the de novo variants in JMJD1C are likely to be relevant to the developmental phenotypes observed in these patients, we conclude that further data supporting the association of JMJD1C variants with intellectual disability is still needed.

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10. Snell-Rood C, Ruble L, Kleinert H, McGrew JH, Adams M, Rodgers A, Odom J, Wong WH, Yu Y. Stakeholder perspectives on transition planning, implementation, and outcomes for students with autism spectrum disorder. Autism ;2020 (Jan 20):1362361319894827.

LAY ABSTRACT : Little is known about factors impacting poor post-school outcomes for transition-age students with autism spectrum disorder. Guided by an implementation science framework that takes into account the multiple factors that influence transition outcomes, we sought to better understand the interdependent impacts of policy, organizational, provider, and individual factors that shape the transition planning process in schools, and the subsequent process through which transition plans are implemented as youth with autism spectrum disorder access services and gain employment after school. We conducted focus groups with individuals with autism spectrum disorder, parents, classroom teachers, school administrators, adult service providers, and state policymakers (10 groups, N = 40). Participants described how core tenets of the individualized education planning process were not reliably implemented : planning was described by inappropriate goal-setting, ineffective communication, and inadequate involvement of all decision-makers needed to inform planning. After school, youth struggled to access the services specified in their transition plans due to inadequate planning, overburdened services, and insufficient accountability for adult service providers. Finally, a failure to include appropriate skill-building and insufficient interagency and community relationships limited efforts to gain and maintain employment. Diverse stakeholder perspectives illuminate the need for implementation efforts to target the provider, organizational, and policy levels to improve transition outcomes for individuals with autism spectrum disorder.

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11. Torres EB, Caballero C, Mistry S. Aging with Autism Departs Greatly from Typical Aging. Sensors (Basel) ;2020 (Jan 20) ;20(2)

Autism has been largely portrayed as a psychiatric and childhood disorder. However, autism is a lifelong neurological condition that evolves over time through highly heterogeneous trajectories. These trends have not been studied in relation to normative aging trajectories, so we know very little about aging with autism. One aspect that seems to develop differently is the sense of movement, inclusive of sensory kinesthetic-reafference emerging from continuously sensed self-generated motions. These include involuntary micro-motions eluding observation, yet routinely obtainable in fMRI studies to rid images of motor artifacts. Open-access repositories offer thousands of imaging records, covering 5-65 years of age for both neurotypical and autistic individuals to ascertain the trajectories of involuntary motions. Here we introduce new computational techniques that automatically stratify different age groups in autism according to probability distance in different representational spaces. Further, we show that autistic cross-sectional population trajectories in probability space fundamentally differ from those of neurotypical controls and that after 40 years of age, there is an inflection point in autism, signaling a monotonically increasing difference away from age-matched normative involuntary motion signatures. Our work offers new age-appropriate stochastic analyses amenable to redefine basic research and provide dynamic diagnoses as the person’s nervous systems age.

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