1. McVey AJ, Liu Q, Bedford SA, Zaidman-Zait A, Szatmari P, Smith IM, Vaillancourt T, Zwaigenbaum L, Bennett T, Duku E, Elsabbagh M, Georgiades S, Kerns CM. Examining clinical characteristics of autism and links with parent perceptions of sibling relationship quality. Autism : the international journal of research and practice. 2022: 13623613221094672.

Sibling relationship quality is important for the well-being of children on the autism spectrum and their siblings. Little is known, however, about how varied behavior and abilities of children on the autism spectrum may be associated with parent perceptions of domains of sibling relationship quality. We drew data from a subsample of 119 children on the autism spectrum (ages 10-11 years), participating in an ongoing longitudinal study. We looked at how three clinical characteristics (autism symptoms, behavioral difficulties, and communication ability) related to four areas of parent-reported sibling relationship quality (warmth/closeness, conflict, relative status/power, and rivalry). We also examined whether the strength of the association between behavioral difficulties and parent-reported sibling relationship quality was influenced by communication ability. We found that more severe autism symptoms were associated with less conflict and rivalry, and higher communication ability was associated with more relative status/power. We also found that children on the autism spectrum with more behavioral difficulties and weaker communication ability had less warmth/closeness in their sibling relationships. Our findings highlight that it is important to consider autism symptoms, behavioral difficulties, and communication ability, as well as multiple domains of relationship quality, to better understand how parents view the relationships between autistic children and their siblings. Clinically, methods for improving sibling relationships may include teaching conflict resolution strategies to children on the autism spectrum with stronger communication abilities and their siblings, and fostering sibling connection for those with lower communication abilities.

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2. Megerian JT, Dey S, Melmed RD, Coury DL, Lerner M, Nicholls CJ, Sohl K, Rouhbakhsh R, Narasimhan A, Romain J, Golla S, Shareef S, Ostrovsky A, Shannon J, Kraft C, Liu-Mayo S, Abbas H, Gal-Szabo DE, Wall DP, Taraman S. Evaluation of an artificial intelligence-based medical device for diagnosis of autism spectrum disorder. NPJ digital medicine. 2022; 5(1): 57.

Autism spectrum disorder (ASD) can be reliably diagnosed at 18 months, yet significant diagnostic delays persist in the United States. This double-blinded, multi-site, prospective, active comparator cohort study tested the accuracy of an artificial intelligence-based Software as a Medical Device designed to aid primary care healthcare providers (HCPs) in diagnosing ASD. The Device combines behavioral features from three distinct inputs (a caregiver questionnaire, analysis of two short home videos, and an HCP questionnaire) in a gradient boosted decision tree machine learning algorithm to produce either an ASD positive, ASD negative, or indeterminate output. This study compared Device outputs to diagnostic agreement by two or more independent specialists in a cohort of 18-72-month-olds with developmental delay concerns (425 study completers, 36% female, 29% ASD prevalence). Device output PPV for all study completers was 80.8% (95% confidence intervals (CI), 70.3%-88.8%) and NPV was 98.3% (90.6%-100%). For the 31.8% of participants who received a determinate output (ASD positive or negative) Device sensitivity was 98.4% (91.6%-100%) and specificity was 78.9% (67.6%-87.7%). The Device’s indeterminate output acts as a risk control measure when inputs are insufficiently granular to make a determinate recommendation with confidence. If this risk control measure were removed, the sensitivity for all study completers would fall to 51.6% (63/122) (95% CI 42.4%, 60.8%), and specificity would fall to 18.5% (56/303) (95% CI 14.3%, 23.3%). Among participants for whom the Device abstained from providing a result, specialists identified that 91% had one or more complex neurodevelopmental disorders. No significant differences in Device performance were found across participants’ sex, race/ethnicity, income, or education level. For nearly a third of this primary care sample, the Device enabled timely diagnostic evaluation with a high degree of accuracy. The Device shows promise to significantly increase the number of children able to be diagnosed with ASD in a primary care setting, potentially facilitating earlier intervention and more efficient use of specialist resources.

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3. Nayar K, Shic F, Winston M, Losh M. A constellation of eye-tracking measures reveals social attention differences in ASD and the broad autism phenotype. Molecular autism. 2022; 13(1): 18.

BACKGROUND: Social attention differences, expressed through gaze patterns, have been documented in autism spectrum disorder (ASD), with subtle differences also reported among first-degree relatives, suggesting a shared genetic link. Findings have mostly been derived from standard eye-tracking methods (total fixation count or total fixation duration). Given the dynamics of visual attention, these standard methods may obscure subtle, yet core, differences in visual attention mechanisms, particularly those presenting sub-clinically. This study applied a constellation of eye-tracking analyses to gaze data from individuals with ASD and their parents. METHODS: This study included n = 156 participants across groups, including ASD (n = 24) and control (n = 32) groups, and parents of individuals with ASD (n = 61) and control parents (n = 39). A complex scene with social/non-social elements was displayed and gaze tracked via an eye tracker. Eleven analytic methods from the following categories were analyzed: (1) standard variables, (2) temporal dynamics (e.g., gaze over time), (3) fixation patterns (e.g., perseverative or regressive fixations), (4) first fixations, and (5) distribution patterns. MANOVAs, growth curve analyses, and Chi-squared tests were applied to examine group differences. Finally, group differences were examined on component scores derived from a principal component analysis (PCA) that reduced variables to distinct dimensions. RESULTS: No group differences emerged among standard, first fixation, and distribution pattern variables. Both the ASD and ASD parent groups demonstrated on average reduced social attention over time and atypical perseverative fixations. Lower social attention factor scores derived from PCA strongly differentiated the ASD and ASD parent groups from controls, with parent findings driven by the subset of parents demonstrating the broad autism phenotype. LIMITATIONS: To generalize these findings, larger sample sizes, extended viewing contexts (e.g., dynamic stimuli), and even more eye-tracking analytical methods are needed. CONCLUSIONS: Fixations over time and perseverative fixations differentiated ASD and the ASD parent groups from controls, with the PCA most robustly capturing social attention differences. Findings highlight their methodological utility in studies of the (broad) autism spectrum to capture nuanced visual attention differences that may relate to clinical symptoms in ASD, and reflect genetic liability in clinically unaffected relatives. This proof-of-concept study may inform future studies using eye tracking across populations where social attention is impacted.

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4. Nisticò V, Goeta D, Iacono A, Tedesco R, Giordano B, Faggioli R, Priori A, Gambini O, Demartini B. Clinical overlap between functional neurological disorders and autism spectrum disorders: a preliminary study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2022.

Functional neurological disorders (FNDs) and autism spectrum disorders (ASDs) share common features in terms of deficits in emotion regulation and recognition, sensory sensitivity, proprioception and interoception. Nevertheless, few studies have assessed their overlap. We recruited 21 patients with FNDs, 30 individuals with ASDs without intellectual disabilities and 45 neurotypical adults (NA). Participants completed: the Autism Quotient (AQ); the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R); and a questionnaire assessing functional neurological symptoms (FNS). ASDs participants also completed the Sensory Perception Quotient-Short Form (SPQ-SF35), assessing sensory sensitivity. In the FNDs sample, no patient scored above the clinical cut-off at the AQ and the 19% scored above the cut-off at the RAADS-R, a prevalence similar to the one we found in NA (15.6%; both p > 0.05). The 86.7% of participants with ASDs reported at least one FNS, a prevalence significantly higher than the NA one (35.6%, p < 0.001). In the ASDs sample, tactile hypersensitivity was found to be a risk factor for functional weakness (OR = 0.74, p = 0.033) and paraesthesia (OR = 0.753, p = 0.019). In conclusions, FNDs individuals did not present autistic traits more than NA, but ASDs individuals presented a higher number of FNSs than NA; this rate was associated with higher sensory sensitivity, especially in the touch domain.

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5. Perche O, Lesne F, Patat A, Raab S, Twyman R, Ring RH, Briault S. Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report. Journal of medical case reports. 2022; 16(1): 180.

BACKGROUND: Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to several neurological features, including intellectual disability or autism. Associated with neurodevelopmental phenotypes, sensory function disturbances are considered to be important clinical features contributing to a variety of behavioral impairments. Large-conductance calcium-activated potassium channels are important in regulating neurotransmission in sensory circuits, including visual pathways. Deficits in visual function can contribute substantially to poor quality of life, while therapeutic approaches aimed at addressing such visual deficits represent opportunities to improve neurocognitive and neurobehavioral outcomes. CASE PRESENTATION: We describe the case of a 25-year-old Caucasian male with autism spectrum disorder and severe intellectual disability presenting large-conductance calcium-activated potassium channel haploinsufficiency due to a de novo balanced translocation (46, XY, t [9; 10] [q23;q22]) disrupting the KCNMA1 gene. The visual processing pathway of the subject was evaluated using both electroretinography and visual contrast sensitivity, indicating that both retinal bipolar cell function and contrast discrimination performance were reduced by approximately 60% compared with normative control values. These findings imply a direct link between KCNMA1 gene disruption and visual dysfunction in humans. In addition, the subject reported photophobia but did not exhibit strabismus, nystagmus, or other visual findings on physical examination. CONCLUSIONS: This case study of a subject with large-conductance calcium-activated potassium channel haploinsufficiency and photophobia revealed a visual pathway deficit at least at the retinal level, with diminished retinal light capture likely due to bipolar cell dysfunction and an associated loss of contrast sensitivity. The data suggest that large-conductance calcium-activated potassium channels play an important role in the normal functioning of the visual pathway in humans, and that their disruption may play a role in visual and other sensory system symptomatology in large-conductance calcium-activated potassium channelopathies or conditions where disruption of large-conductance calcium-activated potassium channel function is a relevant feature of the pathophysiology, such as fragile X syndrome. This work suggests that the combined use of physiological (electroretinography) and functional (contrast sensitivity) approaches may have utility as a biomarker strategy for identifying and characterizing visual processing deficits in individuals with large-conductance calcium-activated potassium channelopathy. Trial registration ID-RCB number 2019-A01015-52, registered 17/05/2019.

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6. Pillay Y, Brownlow C, March S. Transition approaches for autistic young adults: A case series study. PloS one. 2022; 17(5): e0267942.

The aim of this study was to evaluate the experience of autistic young adults aged 18 to 25 years old over a 12-month transition period from 2016 to 2017. Data was collected through a longitudinal repeated measures case series design with assessments conducted at 2 time points, at baseline then 12 months later. Assessments included self-report evaluations of transition planning and intervention received at high school, engagement in post-secondary education and access to employment, living circumstances, and social support. Examination of 9 cases showed family and social support was an important facilitator of successful transition whilst low independence was a risk factor associated with unsuccessful transition. In-depth analysis of cases showed a lack of engagement in post-secondary education and unemployment were associated with poor quality of life whilst skills development, work experience placements, and support from service providers were associated with improved quality of life. Implications of the findings highlight the need for educational and socially inclusive interventions to support the heterogeneity in individual, social, communication, and behavioural challenges in autistic young adults.

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7. Viswanathan P, Kishore MT, Seshadri SP. Lived Experiences of Siblings of Individuals with Autism Spectrum Disorder in India: An Interpretative Phenomenological Analysis. Indian journal of psychological medicine. 2022; 44(1): 45-52.

BACKGROUND: Autism spectrum disorder (ASD) can impact the individual and their families. The impact on siblings is unique because they evolve from being another child in the family to a future adult who can be a potential resource to the family in supporting a member with ASD. Since the quality of care and support can be affected by the lived experiences of the carer and there are not many studies on siblings, this study examined the lived experiences of siblings of individuals with ASD. METHODS: Fourteen siblings of individuals with ASD, aged 15-36 years, were recruited from a tertiary hospital, schools, and private institutes. A semistructured interview schedule was used to explore the lived experiences. Interpretative phenomenological analysis (IPA) was used to identify the themes. RESULTS: The themes based on IPA indicated that the siblings have very basic concerns like understanding the condition and complex issues such as coping, preparing for current and future roles, personal needs and expectations, need for a support system, and positive aspects of the sibling relationship. Nonetheless, the siblings minimized reporting their difficulties and focused more on the needs of the sibling with ASD. CONCLUSION: Siblings have diverse lived experiences, with a small element of positive experiences. Appropriate supports are needed to address the complexities of the lived experiences.

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8. Wang LAL, Petrulla V, Zampella CJ, Waller R, Schultz RT. Gross motor impairment and its relation to social skills in autism spectrum disorder: A systematic review and two meta-analyses. Psychological bulletin. 2022.

Gross motor ability is associated with profound differences in how children experience and interact with their social world. A rapidly growing literature on motor development in autism spectrum disorder (ASD) indicates that autistic individuals exhibit impairment in gross motor skills. However, due to substantial heterogeneity across studies, it remains unclear which gross motor skills are impaired in ASD, when and for whom these differences emerge, and whether motor and social impairments are related. The present article addressed these questions by synthesizing research on gross motor skills in ASD in two separate meta-analyses. The first examined gross motor deficits in ASD compared to neurotypical (NT) controls, aggregating data from 114 studies representing 6,423 autistic and 2,941 NT individuals. Results demonstrated a significant overall deficit in gross motor skills in ASD (Hedges’ g = -1.04) that was robust to methodological and phenotypic variation and was significant at every level of the tested moderators. However, moderation analyses revealed that this deficit was most pronounced for object control skills (i.e., ball skills), clinical assessment measures, and movements of the upper extremities or the whole body. The second meta-analysis investigated whether gross motor and social skills are related in ASD, synthesizing data from 21 studies representing 654 autistic individuals. Findings revealed a modest but significant overall correlation between gross motor and social skills in ASD (r = 0.27). Collectively, results support the conclusion that motor deficits are tied to the core symptoms of ASD. Further research is needed to test the causality and directionality of this relationship. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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9. Wolff N, Stroth S, Kamp-Becker I, Roepke S, Roessner V. Autism Spectrum Disorder and IQ – A Complex Interplay. Frontiers in psychiatry. 2022; 13: 856084.

Autism spectrum disorder (ASD) is characterized as a very heterogeneous child-onset disorder, whose heterogeneity is partly determined by differences in intelligence quotient (IQ). Older epidemiological studies suggested that the IQ-related spectrum tends to be skewed to the left, i.e., a larger proportion of individuals with ASD have below average intelligence, while only few individuals with ASD may have an IQ above average. This picture changed over time with broadening the spectrum view. Within the present perspective article, we discuss discrepancies in IQ profiles between epidemiological and clinical studies and identify potential underlying aspects, for example, the influence of external factors such as sample biases or differences in availability of autism health services. Additionally, we discuss the validity and reciprocal influences of ASD diagnostics and IQ measurement. We put the impact of these factors for diagnostic as well as care and support situations of patients into perspective and want to encourage further research to contribute to the conceptualization of « autism » more comprehensively including the IQ as well as to examine broader (life) circumstances, interacting factors and diagnostic requirements of given diagnoses in childhood as compared to adulthood.

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10. Xia QQ, Sekar P, Powell CM. « Déjà vu » in an autism gene mouse model modifies social mores. Neuron. 2022; 110(9): 1433-5.

Genetic and environmental factors during development are involved in autism, and in this issue of Neuron Krüttner et al. (2022) find environment may play a more acute role in modulating autism behavior in a Shank3 exon 21 deletion mutant mouse (Shank3(ΔC/ΔC)). The authors explore the underlying circuit mechanisms in detail.

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