1. Lu ZA, Mu W, Osborne LM, Cordner ZA. {{Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine}}. {BMJ case reports}. 2018; 2018.
The SHANK2 gene codes for a protein involved in organising the postsynaptic density and disruptions have been associated with autism spectrum disorders (ASDs). ASDs are frequently comorbid with intellectual disability and anxiety disorders and emerging evidence suggests potentially common aetiologies. Here, we report the case of an 18-year-old man with ASD who presented with severe anorexia due to fear of food contamination, food avoidance and stereotypies attributable to underlying obsessive compulsive disorder (OCD). The patient was found to be heterozygous for c.2518C>T (p.Pro840Ser), a likely damaging coding variant in the proline rich region of SHANK2 Interestingly, the patient’s disordered eating behaviour began to improve only after high-dose fluoxetine was initiated to target OCD symptoms. Overall, this case highlights the utility of molecular genetic testing in clinical psychiatry and provides an example of how genetic information can inform clinicians in the treatment of complex neuropsychiatric syndromes.
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2. McLaughlin L, Keim SA, Adesman A. {{Wandering by Children with Autism Spectrum Disorder: Key Clinical Factors and the Role of Schools and Pediatricians}}. {J Dev Behav Pediatr}. 2018.
OBJECTIVE: To examine the clinical characteristics associated with wandering in children with autism spectrum disorder (ASD), the impact on families, and how medical and educational professionals address wandering. METHODS: An anonymous, online questionnaire was distributed through autism-related organizations to parents of children with ASD. The questionnaire asked about demographics, developmental diagnoses, past wandering behavior, and impact of wandering on parents. It also asked about the use of electronic tracking devices, requested Individualized Education Program (IEP) modifications, use of restraints and/or seclusion to prevent wandering at school, and receipt of guidance about wandering. Parents were included if they lived in the United States and had a child aged 4 to 18 years with ASD who had previously wandered. RESULTS: A total of 1454 parents who completed the questionnaire met the inclusion criteria. It was found that 22.4% of the children wandered from their home or yard and 24.6% from a public place more than monthly. Wandering concerns affected 73.3% of parents’ decisions to let their child spend time with friends or family in their absence. Furthermore, 48.6% and 58.7% of parents were moderately/very worried about their child wandering from home or yard or a public place, respectively. Over half of the parents (54.9%) parents requested IEP changes to address wandering. Only 33.3% of parents had previously received any counseling about wandering. CONCLUSION: Children with ASD and a history of elopement wandered at a fairly high frequency. Wandering concerns increased worry and anxiety for parents and negatively impacted household routines. The medical community is not adequately educating families about these risks. Pediatricians must become more aware of available prevention and mitigation strategies.
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3. Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, de la Torre Ubieta L, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH. {{Author Correction: Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism}}. {Nature}. 2018.
Change history: In this Letter, the labels for splicing events A3SS and A5SS were swapped in column D of Supplementary Table 3a and b. This has been corrected online.
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4. Rubenstein E, Durkin MS, Harrington RA, Kirby RS, Schieve LA, Daniels J. {{Relationship Between Advanced Maternal Age and Timing of First Developmental Evaluation in Children with Autism}}. {J Dev Behav Pediatr}. 2018.
OBJECTIVE: Mothers of advanced maternal age (AMA) at childbirth (age >/=35 years) may have different perceptions of autism spectrum disorder (ASD) risk, independent of sociodemographic factors, that may affect ASD identification. We aimed to estimate associations between AMA and both age of a child’s first evaluation noting developmental concerns and time from first evaluation to first ASD diagnosis. METHODS: We used data for 8-year-olds identified with ASD in the 2008 to 2012 Autism and Developmental Disabilities Monitoring Network. We estimated differences in age at first evaluation noting developmental concerns and time to first ASD diagnosis by AMA using quantile and Cox regression. RESULTS: Of 10,358 children with ASD, 19.7% had mothers of AMA. AMA was associated with higher educational attainment and previous live births compared with younger mothers. In unadjusted analyses, AMA was associated with earlier first evaluation noting developmental concerns (median 37 vs 40 mo) and patterns in time to first evaluation (hazard ratio: 1.12, 95% confidence interval: 1.06-1.18). Associations between AMA and evaluation timing diminished and were no longer significant after adjustment for socioeconomic and demographic characteristics. Children’s intellectual disability did not modify associations between AMA and timing of evaluations. CONCLUSION: Advanced maternal age is a sociodemographic factor associated with younger age of first evaluation noting developmental concerns in children with ASD, but AMA was not independently associated likely, because it is a consequence or cofactor of maternal education and other sociodemographic characteristics. AMA may be a demographic factor to consider when aiming to screen and evaluate children at risk for ASD.
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5. Schiavone N, Szczepanik D, Koutras J, Pfeiffer B, Slugg L. {{Caregiver Strategies to Enhance Participation in Children With Autism Spectrum Disorder}}. {OTJR : occupation, participation and health}. 2018: 1539449218786713.
Participation is necessary for childhood development, however, children with disabilities participate in fewer activities than their nondisabled peers. This study identified strategies caregivers use to increase participation in home- and community-based activities for children with autism spectrum disorder. Survey responses of 44 caregivers were analyzed through open and axial coding to develop a central theme and five broad themes. Caregiver strategies which produce a participation outcome fell into five themes: (a) adapters/facilitators, (b) pragmatic considerations, (c) social reframing, (d) sensory adjustments, and (e) desperate measures. Nonproductive strategies were identified where the child did not participate in the activity. Adaptations/facilitators were more likely used in the home, whereas community-based strategies were more often pragmatic considerations. Nonproductive strategies occurred more frequently in the community. When evaluating a child’s participation, occupational therapy (OT) practitioners should take into consideration the context of the activity to identify appropriate and helpful strategies.
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6. Wan MW, Green J, Scott J. {{A systematic review of parent-infant interaction in infants at risk of autism}}. {Autism}. 2018: 1362361318777484.
Social communicative precursors to autism spectrum disorder may influence how infants who are later diagnosed with autism spectrum disorder interact with their social partners and the responses they receive, thus bidirectionally influencing early social experience. This systematic review aimed to identify a developmental timeline for parent-infant interaction in the first 2 years of life in at-risk infants and in emergent autism spectrum disorder, and to examine any parent-infant interaction associations with later social-communicative outcomes. In total, 15 studies were identified investigating parent-infant interaction in infants at familial autism risk (i.e. with an older sibling with autism spectrum disorder). Starting from the latter part of the first year, infants at risk of autism spectrum disorder (and particularly infants with eventual autism spectrum disorder) showed parent-infant interaction differences from those with no eventual autism spectrum disorder, most notably in infant gesture use and dyadic qualities. While parental interactions did not differ by subsequent child autism spectrum disorder outcome, at-risk infants may receive different ‘compensatory’ socio-communicative inputs, and further work is needed to clarify their effects. Preliminary evidence links aspects of parent-infant interaction with later language outcomes. We discuss the potential role of parent-infant interaction in early parent-mediated intervention.
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7. Wang J, Wang Q, Zhang H, Chen J, Wang S, Shen D. {{Sparse Multiview Task-Centralized Ensemble Learning for ASD Diagnosis Based on Age- and Sex-Related Functional Connectivity Patterns}}. {IEEE transactions on cybernetics}. 2018.
Autism spectrum disorder (ASD) is an age- and sex-related neurodevelopmental disorder that alters the brain’s functional connectivity (FC). The changes caused by ASD are associated with different age- and sex-related patterns in neuroimaging data. However, most contemporary computer-assisted ASD diagnosis methods ignore the aforementioned age-/sex-related patterns. In this paper, we propose a novel sparse multiview task-centralized (Sparse-MVTC) ensemble classification method for image-based ASD diagnosis. Specifically, with the age and sex information of each subject, we formulate the classification as a multitask learning problem, where each task corresponds to learning upon a specific age/sex group. We also extract multiview features per subject to better reveal the FC changes. Then, in Sparse-MVTC learning, we select a certain central task and treat the rest as auxiliary tasks. By considering both task-task and view-view relationships between the central task and each auxiliary task, we can learn better upon the entire dataset. Finally, by selecting the central task, in turn, we are able to derive multiple classifiers for each task/group. An ensemble strategy is further adopted, such that the final diagnosis can be integrated for each subject. Our comprehensive experiments on the ABIDE database demonstrate that our proposed Sparse-MVTC ensemble learning can significantly outperform the state-of-the-art classification methods for ASD diagnosis.
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8. Yuen T, Penner M, Carter MT, Szatmari P, Ungar WJ. {{Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta-analysis}}. {Dev Med Child Neurol}. 2018.
AIM: The Modified Checklist for Autism in Toddlers (M-CHAT) could be appropriate for universal screening for autism spectrum disorder (ASD) at 18 months and 24 months. Validation studies, however, reported differences in psychometric properties across sample populations. This meta-analysis summarized its accuracy measures and quantified their change in relation to patient and study characteristics. METHOD: Four electronic databases (MEDLINE, PsycINFO, CINAHL, and Embase) were searched to identify articles published between January 2001 and May 2016. Bayesian regression models pooled study-specific measures. Meta-regressions covariates were age at screening, study design, and proportion of males. RESULTS: On the basis of the 13 studies included, the pooled sensitivity was 0.83 (95% credible interval [CI] 0.75-0.90), specificity was 0.51 (95% CI 0.41-0.61), and positive predictive value was 0.53 (95% CI 0.43-0.63) in high-risk children and 0.06 (95% CI <0.01-0.14) in low-risk children. Sensitivity was higher for screening at 30 months compared with 24 months. INTERPRETATION: Findings indicate that the M-CHAT performs with low to moderate accuracy in identifying ASD among children with developmental concerns, but there was a lack of evidence on its performance in low-risk children or at age 18 months. Clinicians should account for a child's age and presence of developmental concern when interpreting their M-CHAT score. WHAT THIS PAPER ADDS: The Modified Checklist for Autism in Toddlers (M-CHAT) performs with low-to-moderate accuracy in children with developmental concerns. There is limited evidence supporting its use at 18 months or in low-risk children. Lien vers le texte intégral (Open Access ou abonnement)
9. Zhao G, Walsh K, Long J, Gui W, Denisova K. {{Reduced structural complexity of the right cerebellar cortex in male children with autism spectrum disorder}}. {PLoS One}. 2018; 13(7): e0196964.
The cerebellum contains 80% of all neurons in the human brain and contributes prominently to implicit learning and predictive processing across motor, sensory, and cognitive domains. As morphological features of the cerebellum in atypically developing individuals remain unexplored in-vivo, this is the first study to use high-resolution 3D fractal analysis to estimate fractal dimension (FD), a measure of structural complexity of an object, of the left and right cerebellar cortex (automatically segmented from Magnetic Resonance Images using FreeSurfer), in male children with Autism Spectrum Disorders (ASD) (N = 20; mean age: 8.8 years old, range: 7.13-10.27) and sex, age, verbal-IQ, and cerebellar volume-matched typically developing (TD) boys (N = 18; mean age: 8.9 years old, range: 6.47-10.52). We focus on an age range within the ‘middle and late childhood’ period of brain development, between 6 and 12 years. A Mann-Whitney U test revealed a significant reduction in the FD of the right cerebellar cortex in ASD relative to TD boys (P = 0.0063, Bonferroni-corrected), indicating flatter and less regular surface protrusions in ASD relative to TD males. Consistent with the prediction that the cerebellum participates in implicit learning, those ASD boys with a higher (vs. lower) PIQ>VIQ difference showed higher, more normative complexity values, closer to TD children, providing new insight on our understanding of the neurological basis of differences in verbal and performance cognitive abilities that often characterize individuals with ASD.
