1. Berney T. {{Autism Spectrum Disorder (Primer on)}}. {Br J Psychiatry}. 2017; 210(6): 439.
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2. Brian JA, Smith IM, Zwaigenbaum L, Bryson SE. {{Cross-site randomized control trial of the Social ABCs caregiver-mediated intervention for toddlers with autism spectrum disorder}}. {Autism Res}. 2017.
To evaluate the efficacy of the Social ABCs parent-mediated intervention for toddlers with suspected or confirmed autism spectrum disorder (ASD), through a cross-site randomized control trial, sixty-three parent-toddler dyads (toddler age: 16-30 months) were randomized into treatment (Social ABCs) or control (service-as-usual) conditions. Video data were obtained at three key time-points: Baseline; Post-training (PT; week 12); and Follow-Up (week 24). Analyses included 62 dyads. Treatment allocation significantly accounted for PT gains, all favouring the Treatment group, in (1) child functional vocal responsiveness to parent prompts (R2 = 0.43, P < .001), (2) child vocal initiations (R2 = 0.28, P < .001), (3) parent smiling (R2 = 0.09, P = .017), and (4) fidelity of implementation (R2 = 0.71, P < .001). A trend was observed for increased social orienting (R2 = 0.06, P = 0.054); gains in parent smiling significantly predicted increases in child smiling and social orienting. Parents in the treatment condition reported significant gains in self-efficacy following the intervention (P = 0.009). No differential effects emerged for performance on standardized measures. The Social ABCs is a relatively low-resource, efficacious intervention, with potential to be a cost-effective means of intervening at the first signs of possible ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Clinical Trial Title: Social ABCs for Toddlers with Signs of Autism Spectrum Disorder: RCT of a Parent-Mediated Intervention http://ClinicalTrials.gov identifier: NCT02428452. Lien vers le texte intégral (Open Access ou abonnement)
3. Coutinho E, Jacobson L, Pedersen MG, Benros ME, Norgaard-Pedersen B, Mortensen PB, Harrison PJ, Vincent A. {{CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism}}. {J Neurol Neurosurg Psychiatry}. 2017.
BACKGROUND, METHODS AND OBJECTIVES: Maternal autoantibodies to neuronal proteins may be one cause of neurodevelopmental disorders. This exploratory study used the Danish archived midgestational sera and their nationwide registers to search for antibodies to the N-methyl-D-aspartate receptor (NMDAR) and contactin-associated protein-like 2 (CASPR2) in maternal sera, and to relate them to subsequent psychiatric diagnoses in the woman or her child. RESULTS: In a sample of 192 women, there was no association between antibody status and subsequent psychosis in the mothers. However, NMDAR antibodies (n=4) or CASPR2 antibodies (n=1) were identified in 5/11 (45.5%) women whose children were given a diagnosis of mild or unspecified mental retardation or disorders of psychological and motor development (collectively abbreviated as mental retardation and/or disorders of psychological development (MR/DPD)) compared with 9/176 (5.1%) of the remaining mother (p<0.001). These findings were followed up in a specifically selected cohort, in which CASPR2 antibodies were detected in 7/171 (4.1%) mothers of MR/DPD progeny, compared with only 1/171 (0.6%) control mother (p=0.067). The combined sample showed a significantly higher frequency of CASPR2 antibodies in mothers of MD/DPD children (p=0.01). These autoantibodies were not increased in mothers of children with autistic spectrum disorder. CONCLUSIONS: These findings complement the known roles of CASPR2 in brain development, and warrant further epidemiological and experimental studies to clarify the role of CASPR2 and possibly other antibodies in neurodevelopmental disorders. Lien vers le texte intégral (Open Access ou abonnement)
4. Irwin J, Avery T, Turcios J, Brancazio L, Cook B, Landi N. {{Electrophysiological Indices of Audiovisual Speech Perception in the Broader Autism Phenotype}}. {Brain Sci}. 2017; 7(6).
When a speaker talks, the consequences of this can both be heard (audio) and seen (visual). A novel visual phonemic restoration task was used to assess behavioral discrimination and neural signatures (event-related potentials, or ERP) of audiovisual processing in typically developing children with a range of social and communicative skills assessed using the social responsiveness scale, a measure of traits associated with autism. An auditory oddball design presented two types of stimuli to the listener, a clear exemplar of an auditory consonant-vowel syllable /ba/ (the more frequently occurring standard stimulus), and a syllable in which the auditory cues for the consonant were substantially weakened, creating a stimulus which is more like /a/ (the infrequently presented deviant stimulus). All speech tokens were paired with a face producing /ba/ or a face with a pixelated mouth containing motion but no visual speech. In this paradigm, the visual /ba/ should cause the auditory /a/ to be perceived as /ba/, creating an attenuated oddball response; in contrast, a pixelated video (without articulatory information) should not have this effect. Behaviorally, participants showed visual phonemic restoration (reduced accuracy in detecting deviant /a/) in the presence of a speaking face. In addition, ERPs were observed in both an early time window (N100) and a later time window (P300) that were sensitive to speech context (/ba/ or /a/) and modulated by face context (speaking face with visible articulation or with pixelated mouth). Specifically, the oddball responses for the N100 and P300 were attenuated in the presence of a face producing /ba/ relative to a pixelated face, representing a possible neural correlate of the phonemic restoration effect. Notably, those individuals with more traits associated with autism (yet still in the non-clinical range) had smaller P300 responses overall, regardless of face context, suggesting generally reduced phonemic discrimination.
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5. Magiati I, Lerh JW, Hollocks MJ, Uljarevic M, Rodgers J, McConachie H, Ozsivadjian A, South M, Van Hecke A, Hardan A, Libove R, Leekam S, Simonoff E. {{The measurement properties of the spence children’s anxiety scale-parent version in a large international pooled sample of young people with autism spectrum disorder}}. {Autism Res}. 2017.
Anxiety-related difficulties are common in ASD, but measuring anxiety reliably and validly is challenging. Despite an increasing number of studies, there is no clear agreement on which existing anxiety measure is more psychometrically sound and what is the factor structure of anxiety in ASD. The present study examined the internal consistency, convergent, divergent, and discriminant validity, as well as the factor structure of the Spence Children’s Anxiety Scale-Parent Version (SCAS-P), in a large international pooled sample of 870 caregivers of youth with ASD from 12 studies in the United Kingdom, United States, and Singapore who completed the SCAS-P. Most were community recruited, while the majority had at least one measure of ASD symptomatology and either cognitive or adaptive functioning measures completed. Existing SCAS-P total scale and subscales had excellent internal consistency and good convergent, divergent and discriminant validity similar to or better than SCAS-P properties reported in typically developing children, except for the poorer internal consistency of the physical injury subscale. Confirmatory Factor Analysis (CFA) of the existing SCAS-P six-correlated factor structure was a poor fit for this pooled database. Principal component analysis using half of the pooled sample identified a 30-item five correlated factor structure, but a CFA of this PCA-derived structure in the second half of this pooled sample revealed a poor fit, although the PCA-derived SCAS-P scale and subscales had stronger validity and better internal consistency than the original SCAS-P. The study’s limitations, the use of the SCAS-P to screen for DSM-derived anxiety problems in ASD and future research directions are discussed. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Milone R, Valetto A, Bertini V, Sicca F. {{Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion}}. {Epileptic Disord}. 2017.
Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and long-term clinical follow-up.
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7. Movaghar A, Mailick M, Sterling A, Greenberg J, Saha K. {{Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes}}. {Sci Rep}. 2017; 7(1): 2674.
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed. Despite the high prevalence of the FX premutation and its effect on public health and family planning, most FX premutation carriers are unaware of their condition. Since genetic testing for the premutation is resource intensive, it is not practical to screen individuals for FX premutation status using genetic testing. In a novel approach to phenotyping, we have utilized audio recordings and cognitive profiling assessed via self-administered questionnaires on 200 females. Machine-learning methods were developed to discriminate FX premutation carriers from mothers of children with autism spectrum disorders, the comparison group. By using a random forest classifier, FX premutation carriers could be identified in an automated fashion with high precision and recall (0.81 F1 score). Linguistic and cognitive phenotypes that were highly associated with FX premutation carriers were high language dysfluency, poor ability to organize material, and low self-monitoring. Our framework sets the foundation for computational phenotyping strategies to pre-screen large populations for this genetic variant with nominal costs.
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8. Stafford LD, Tsang I, Lopez B, Severini M, Iacomini S. {{Autistic traits associated with food neophobia but not olfactory sensitivity}}. {Appetite}. 2017; 116: 584-8.
Food neophobia has been shown to be associated with a range of personality traits (including anxiety, lower sensation seeking) and additionally sensory aspects of food such as taste and texture. Running parallel to that work, research has demonstrated higher incidences of food neophobia in autistic populations and separately evidence of hypersensitivity in some sensory domains. The aim of the current study was to extend our understanding by exploring whether the broader aspects of autistic traits can predict food neophobia in a non-autistic population and whether this is mediated by differences in olfactory sensitivity. In the present study, student participants (N = 50) completed questionnaires measuring their food neophobia (FNS) and preferences for foreign cuisine, autistic traits (Autistic Quotient, AQ), and then completed an olfactory threshold test for a food related odour. The findings demonstrated a positive association between food neophobia and the magnitude of autistic traits and interestingly, an inverse relation between preference for foreign cuisine and olfactory sensitivity; those individuals less inclined toward foreign cuisine had poorer sensitivity to a food related odour. Since AQ was not related to olfactory sensitivity, these findings suggest the relation between autistic traits and food neophobia is unlikely to be mediated by olfactory sensitivity. More broadly however, our sense of smell is associated with experiencing a wider diet.
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9. Wen Y, Herbert MR. {{Connecting the dots: Overlaps between autism and cancer suggest possible common mechanisms regarding signaling pathways related to metabolic alterations}}. {Med Hypotheses}. 2017; 103: 118-23.
Common features between autism spectrum disorders (ASDs) and cancer have been discerned using methodologies from a number of disciplines, including genetics, bioinformatics and epidemiological studies. To understand such apparent overlaps between these two conditions and the mechanisms that may underlie these linkages, it is important to look at their multi-level systems context. Here we discuss ASDs and cancer linkages across levels ranging from genes to pathways and systems, as well as from the vantage points of mechanism and of clinical and epidemiological studies. Review of existing findings yielded evidence that ASDs and cancer overlap extensively in signal transduction pathways that are involved in metabolic processes. We hypothesize that further studies focusing on illuminating the relationships between ASDs and cancer, specifically with regard to signaling pathways that regulate metabolic activities, could help shed new insight on these conditions and develop treatment strategies that, by targeting underlying mechanisms, may be more efficient and effective for both conditions.
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10. Whitaker LR, Simpson A, Roberson D. {{Brief Report: Is Impaired Classification of Subtle Facial Expressions in Children with Autism Spectrum Disorders Related to Atypical Emotion Category Boundaries?}}. {J Autism Dev Disord}. 2017.
Impairments in recognizing subtle facial expressions, in individuals with autism spectrum disorder (ASD), may relate to difficulties in constructing prototypes of these expressions. Eighteen children with predominantly intellectual low-functioning ASD (LFA, IQ <80) and two control groups (mental and chronological age matched), were assessed for their ability to classify emotional faces, of high, medium and low intensities, as happy or angry. For anger, the LFA group made more errors for lower intensity expressions than the control groups, classifications did not differ for happiness. This is the first study to find that the LFA group made more across-valence errors than controls. These data are consistent with atypical facial expression processing in ASD being associated with differences in the structure of emotion categories. Lien vers le texte intégral (Open Access ou abonnement)
11. Wood H. {{Neurodevelopmental disorders: Metformin – a therapeutic option for fragile X syndrome?}}. {Nat Rev Neurol}. 2017.
