1. Atherton G, Lummis B, Day SX, Cross L. {{What am I thinking? Perspective-taking from the perspective of adolescents with autism}}. {Autism : the international journal of research and practice}. 2018: 1362361318793409.
Autistic people are often described as being impaired with regard to theory of mind, though more recent literature finds flaws in the theory of mind deficit paradigm. In addition, the predominant methods for examining theory of mind often rely on « observational » modes of assessment and do not adequately reflect the dynamic process of real-life perspective taking. Thus, it is imperative that researchers continue to test the autistic theory of mind deficit paradigm and explore theory of mind experiences through more naturalistic approaches. This study qualitatively examined theory of mind in 12 autistic adolescents through a series of semi-structured interviews. Interpretive phenomenological analysis of the data revealed four core themes in participants’ theory of mind experiences and strategies, all of which highlighted how a more accurate representation of autistic theory of mind is one of difference rather than deficit. For instance, data showed that autistic heightened perceptual abilities may contribute to mentalizing strengths and that honesty in autism may be less dependent on systemizing rather than personal experience and choice. Such findings suggest that future research should reexamine autistic characteristics in light of their ability to enhance theory of mind processing. Understanding how an autistic theory of mind is uniquely functional is an imperative step toward both destigmatizing the condition and advocating for neurodiversity.
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2. Frantz MC, Pellissier LP, Pflimlin E, Loison S, Gandia J, Marsol C, Durroux T, Mouillac B, Becker JAJ, Le Merrer J, Valencia C, Villa P, Bonnet D, Hibert M. {{LIT-001, the First Nonpeptide Oxytocin Receptor Agonist that Improves Social Interaction in a Mouse Model of Autism}}. {Journal of medicinal chemistry}. 2018; 61(19): 8670-92.
Oxytocin (OT) and its receptor (OT-R) are implicated in the etiology of autism spectrum disorders (ASD), and OT-R is a potential target for therapeutic intervention. Very few nonpeptide oxytocin agonists have currently been reported. Their molecular and in vivo pharmacology remain to be clarified, and none of them has been shown to be efficient in improving social interaction in animal models relevant to ASD. In an attempt to rationalize the design of centrally active nonpeptide full agonists, we studied in a systematic way the structural determinants of the affinity and efficacy of representative ligands of the V1a and V2 vasopressin receptor subtypes (V1a-R and V2-R) and of the oxytocin receptor. Our results confirm the subtlety of the structure-affinity and structure-efficacy relationships around vasopressin/oxytocin receptor ligands and lead however to the first nonpeptide OT receptor agonist active in a mouse model of ASD after peripheral ip administration.
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3. Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH. {{De novo mutations in SCN1A are associated with classic Rett syndrome: a case report}}. {BMC medical genetics}. 2018; 19(1): 184.
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of these cases. CASE PRESENTATION: We describe two females who fulfill the diagnostic criteria for classic RTT, with pathogenic de novo mutations in SCN1A, which usually leads to Dravet syndrome. The developmental history and clinical features of these two females fits well with RTT, but they do have an unusual epileptic profile with early onset of seizures. Investigation of mRNA from one of the females showed a significantly reduced level of MECP2 mRNA. CONCLUSIONS: To our knowledge, this is the first report suggesting that SCN1A mutations could account for a proportion of the females with classic RTT without MECP2 mutations. As a consequence of these findings SCN1A should be considered in the molecular routine screening in MECP2-negative individuals with RTT and early onset epilepsy.
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4. Kozhemiako N, Vakorin V, Nunes AS, Iarocci G, Ribary U, Doesburg SM. {{Extreme male developmental trajectories of homotopic brain connectivity in autism}}. {Human brain mapping}. 2018.
It has been proposed that autism spectrum disorder (ASD) may be characterized by an extreme male brain (EMB) pattern of brain development. Here, we performed the first investigation of how age-related changes in functional brain connectivity may be expressed differently in females and males with ASD. We analyzed resting-state functional magnetic resonance imaging data of 107 typically developing (TD) females, 114 TD males, 104 females, and 115 males with ASD (6-26 years) from the autism brain imaging data exchange repository. We explored how interhemispheric homotopic connectivity and its maturational curvatures change across groups. Differences between ASD and TD and between females and males with ASD were observed for the rate of changes in connectivity in the absence of overall differences in connectivity. The largest portion of variance in age-related changes in connectivity was described through similarities between TD males, ASD males, and ASD females, in contrast to TD females. We found that shape of developmental curvature is associated with symptomatology in both males and females with ASD. We demonstrated that females and males with ASD tended to follow the male pattern of developmental changes in interhemispheric connectivity, supporting the EMB theory of ASD.
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5. Maras A, Schroder CM, Malow BA, Findling RL, Breddy J, Nir T, Shahmoon S, Zisapel N, Gringras P. {{Long-Term Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children with Autism Spectrum Disorder}}. {Journal of child and adolescent psychopharmacology}. 2018.
OBJECTIVE: A recent double-blind randomized placebo-controlled study demonstrated 3-month efficacy and safety of a novel pediatric-appropriate prolonged-release melatonin (PedPRM) for insomnia in children and adolescents with autism spectrum disorder (ASD) and neurogenetic disorders (NGD) with/without attention-deficit/hyperactivity disorder comorbidity. Long-term efficacy and safety of PedPRM treatment was studied. METHODS: A prospective, open-label efficacy and safety follow-up of nightly 2, 5, or 10 mg PedPRM in subjects who completed the 13-week double-blind trial (51 PedPRM; 44 placebo). Measures included caregiver-reported Sleep and Nap Diary, Composite Sleep Disturbance Index (CSDI), caregiver’s Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale, and quality of life (WHO-5 Well-Being Index). RESULTS: Ninety-five subjects (74.7% males; mean [standard deviation] age, 9 [4.24]; range, 2-17.5 years) received PedPRM (2/5 mg) according to the double-blind phase dose, for 39 weeks with optional dose adjustment (2, 5, or 10 mg/day) after the first 13 weeks. After 52 weeks of continuous treatment (PedPRM-randomized group) subjects slept (mean [SE]) 62.08 (21.5) minutes longer (p = 0.007); fell asleep 48.6 (10.2) minutes faster (p < 0.001); had 89.1 (25.5) minutes longer uninterrupted sleep episodes (p = 0.001); 0.41 (0.12) less nightly awakenings (>50% decrease; p = 0.001); and better sleep quality (p < 0.001) compared with baseline. The placebo-randomized group also improved with PedPRM. Altogether, by the end of 39-week follow-up, regardless of randomization assignment, 55/72 (76%) of completers achieved overall improvement of >/=1 hour in total sleep time (TST), sleep latency or both, over baseline, with no evidence of decreased efficacy. In parallel, CSDI child sleep disturbance and caregivers’ satisfaction of their child’s sleep patterns (p < 0.001 for both), PSQI global (p < 0.001), and WHO-5 (p = 0.001) improved in statistically significant and clinically relevant manner (n = 72) compared with baseline. PedPRM was generally safe; most frequent treatment-related adverse events were fatigue (5.3%) and mood swings (3.2% of patients). CONCLUSION: PedPRM, an easily swallowed formulation shown to be efficacious versus placebo, is an efficacious and safe option for long-term treatment (up to 52 weeks reported here) of children with ASD and NGD who suffer from insomnia and subsequently improves caregivers' quality of life. Lien vers le texte intégral (Open Access ou abonnement)
6. Ohmura Y, Ichikawa I, Kumagaya S, Kuniyoshi Y. {{Stapedial reflex threshold predicts individual loudness tolerance for people with autistic spectrum disorders}}. {Experimental brain research}. 2018.
People with autism spectrum disorder (ASD) frequently show the symptoms of oversensitivity to sound (hyperacusis). Although the previous studies have investigated methods for quantifying hyperacusis in ASD, appropriate physiological signs for quantifying hyperacusis in ASD remain poorly understood. Here, we investigated the relationship of loudness tolerance with the threshold of the stapedial reflex and with contralateral suppression of the distortion product otoacoustic emissions, which has been suggested to be related to hyperacusis in people without ASD. We tested an ASD group and a neurotypical group. The results revealed that only the stapedial reflex threshold was significantly correlated with loudness tolerance in both groups. In addition to reduced loudness tolerance, people with lower stapedial reflex thresholds also exhibited higher scores on the Social Responsiveness Scale-2.
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7. Polfuss M, Moosreiner A, Boushey CJ, Delp EJ, Zhu F. {{Technology-Based Dietary Assessment in Youth with and Without Developmental Disabilities}}. {Nutrients}. 2018; 10(10).
Obesity prevalence is higher in children with developmental disabilities as compared to their typically developing peers. Research on dietary intake assessment methods in this vulnerable population is lacking. The objectives of this study were to assess the feasibility, acceptability, and compare the nutrient intakes of two technology-based dietary assessment methods in children with-and-without developmental disabilities. This cross-sectional feasibility study was an added aim to a larger pilot study. Children (n = 12; 8(-)18 years) diagnosed with spina bifida, Down syndrome, or without disability were recruited from the larger study sample, stratified by diagnosis. Participants were asked to complete six days of a mobile food record (mFR), a 24-h dietary recall via FaceTime((R)) (24 HR-FT), and a post-study survey. Analysis included descriptive statistics for survey results and a paired samples t-test for nutrient intakes. All participants successfully completed six days of dietary assessment using both methods and acceptability was high. Energy (kcal) and protein (g) intake was significantly higher for the mFR as compared to the 24 HR-FT (p = 0.041; p = 0.014, respectively). Each method had strengths and weaknesses. The two technology-based dietary assessment tools were well accepted and when combined could increase accuracy of self-reported dietary assessment in children with-and-without disability.
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8. Roberts JE, Ezell JE, Fairchild AJ, Klusek J, Thurman AJ, McDuffie A, Abbeduto L. {{Biobehavioral composite of social aspects of anxiety in young adults with fragile X syndrome contrasted to autism spectrum disorder}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2018.
Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndrome and those with autism spectrum disorder. Measuring social anxiety in these clinical subgroups is fraught with challenge, however, given the complexity of social anxiety and measurement limitations that are particularly acute in persons with neurodevelopmental disorders. The over-arching aim of this study was to contribute to our understanding of the nature of social anxiety in fragile X syndrome and its association with autism spectrum disorder. To address this aim, we created a multi-faceted composite representing behavioral and biological aspects of social anxiety and examined differences in two adolescent and young adult-aged groups: 59 males with fragile X syndrome and 18 males with autism spectrum disorder. Results indicated a lower score on the multivariate composite for the males with fragile X syndrome relative to autism spectrum disorder but with evidence that traits of autism and social anxiety overlap. We conclude that measuring anxiety and autism traits in fragile X syndrome and autism spectrum disorder is complex with features that overlap and interact in a dynamic manner.
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9. Sulek R, Trembath D, Paynter J, Keen D. {{Empirically Supported Treatments for Students with Autism: General Education Teacher Knowledge, Use, and Social Validity Ratings}}. {Developmental neurorehabilitation}. 2018: 1-10.
OBJECTIVE: To examine teachers’ knowledge and use of empirically supported treatments (ESTs) for children with autism spectrum disorder (ASD), and the extent to which they deem them socially valid in general education settings. METHOD: Totally, 155 general education teachers completed an online survey examining knowledge, use, and perceived social validity of ESTs targeting school readiness skills. Sources of information accessed and the relationship of knowledge, use, and social validity with demographic variables were investigated. RESULTS: Teachers reported knowledge of, and were using, all ESTs. ESTs were used more frequently than non-ESTs. Knowledge, use, and social validity of ESTs were strongly associated. Teachers reported accessing a range of sources of information, with varying degrees of trust placed in these sources. CONCLUSION: Teachers’ knowledge of available ESTs for children with ASD is linked to their use. Increasing awareness of social validity of ESTs, and how they can be successfully translated into classroom settings will influence uptake.
