1. Arora M, Reichenberg A, Willfors C, Austin C, Gennings C, Berggren S, Lichtenstein P, Anckarsater H, Tammimies K, Bolte S. {{Fetal and postnatal metal dysregulation in autism}}. {Nat Commun}. 2017; 8: 15493.
Genetic and environmental factors contribute to the etiologies of autism spectrum disorder (ASD), but evidence of specific environmental exposures and susceptibility windows is limited. Here we study monozygotic and dizygotic twins discordant for ASD to test whether fetal and postnatal metal dysregulation increases ASD risk. Using validated tooth-matrix biomarkers, we estimate pre- and post-natal exposure profiles of essential and toxic elements. Significant divergences are apparent in metal uptake between ASD cases and their control siblings, but only during discrete developmental periods. Cases have reduced uptake of essential elements manganese and zinc, and higher uptake of the neurotoxin lead. Manganese and lead are also correlated with ASD severity and autistic traits. Our study suggests that metal toxicant uptake and essential element deficiency during specific developmental windows increases ASD risk and severity, supporting the hypothesis of systemic elemental dysregulation in ASD. Independent replication in population-based studies is needed to extend these findings.
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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. Demirci E. {{Autism Spectrum Disorder and Phenylketonuria: Dyzygotic Twins with Double Syndrome}}. {Noro Psikiyatr Ars}. 2017; 54(1): 92-3.
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4. Grea H, Scheid I, Gaman A, Rogemond V, Gillet S, Honnorat J, Bolognani F, Czech C, Bouquet C, Toledano E, Bouvard M, Delorme R, Groc L, Leboyer M. {{Clinical and autoimmune features of a patient with autism spectrum disorder seropositive for anti-NMDA-receptor autoantibody}}. {Dialogues Clin Neurosci}. 2017; 19(1): 65-70.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by dysfunctions in social interactions resulting from a complex interplay between immunogenetic and environmental risk factors. Autoimmunity has been proposed as a major etiological component of ASD. Whether specific autoantibodies directed against brain targets are involved in ASD remains an open question. Here, we identified within a cohort an ASD patient with multiple circulating autoantibodies, including the well-characterized one against glutamate NMDA receptor (NMDAR-Ab). The patient exhibited alexithymia and previously suffered from two major depressive episodes without psychotic symptoms. Using a single molecule-based imaging approach, we demonstrate that neither NMDAR-Ab type G immunoglobulin purified from the ASD patient serum, nor that from a seropositive healthy subject, disorganize membrane NMDAR complexes at synapses. These findings suggest that the autistic patient NMDAR-Abs do not play a direct role in the etiology of ASD and that other autoantibodies directed against neuronal targets should be investigated.
5. 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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6. Kalb LG, Stuart EA, Mandell DS, Olfson M, Vasa RA. {{Management of Mental Health Crises Among Youths With and Without ASD: A National Survey of Child Psychiatrists}}. {Psychiatr Serv}. 2017: appips201600332.
OBJECTIVE: This study compared management by child psychiatrists of mental health crises among youths with and without autism spectrum disorder (ASD). METHODS: A custom online mental health crisis services survey was administered to members of the American Academy of Child and Adolescent Psychiatry. The survey probed three domains of crisis management: willingness to work with youths with a history of mental health crisis, comfort level in managing a mental health crisis, and availability of external resources during a crisis. Child psychiatrists reporting on management of youths with ASD (N=492) and without ASD (N=374) completed the survey. RESULTS: About 75% of psychiatrists in both groups were willing to accept a child with a history of a mental health crisis in their practice. During a crisis, psychiatrists caring for youths with ASD had less access to external consultation resources, such as a crisis evaluation center or other mental health professionals, compared with those caring for youths without ASD. Psychiatrists also expressed concerns about the ability of emergency department professionals and emergency responders to manage mental health crises among youths in a safe and developmentally appropriate manner, particularly among those with ASD. CONCLUSIONS: Child psychiatrists are in need of more external resources to manage youths with ASD who are experiencing a mental health crisis. There is also a need to develop best practice procedures for emergency responders who are working with youths experiencing a mental health crisis.
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7. Kamp-Becker I, Poustka L, Bachmann C, Ehrlich S, Hoffmann F, Kanske P, Kirsch P, Krach S, Paulus FM, Rietschel M, Roepke S, Roessner V, Schad-Hansjosten T, Singer T, Stroth S, Witt S, Wermter AK. {{Study protocol of the ASD-Net, the German research consortium for the study of Autism Spectrum Disorder across the lifespan: from a better etiological understanding, through valid diagnosis, to more effective health care}}. {BMC Psychiatry}. 2017; 17(1): 206.
BACKGROUND: Autism Spectrum Disorder (ASD) is a severe, lifelong neurodevelopmental disorder with early onset that places a heavy burden on affected individuals and their families. Due to the need for highly specialized health, educational and vocational services, ASD is a cost-intensive disorder, and strain on health care systems increases with increasing age of the affected individual. METHODS: The ASD-Net will study Germany’s largest cohort of patients with ASD over the lifespan. By combining methodological expertise from all levels of clinical research, the ASD-Net will follow a translational approach necessary to identify neurobiological pathways of different phenotypes and their appropriate identification and treatment. The work of the ASD-Net will be organized into three clusters concentrating on diagnostics, therapy and health economics. In the diagnostic cluster, data from a large, well-characterized sample (N = 2568) will be analyzed to improve the efficiency of diagnostic procedures. Pattern classification methods (machine learning) will be used to identify algorithms for screening purposes. In a second step, the developed algorithm will be tested in an independent sample. In the therapy cluster, we will unravel how an ASD-specific social skills training with concomitant oxytocin administration can modulate behavior through neurobiological pathways. For the first time, we will characterize long-term effects of a social skills training combined with oxytocin treatment on behavioral and neurobiological phenotypes. Also acute effects of oxytocin will be investigated to delineate general and specific effects of additional oxytocin treatment in order to develop biologically plausible models for symptoms and successful therapeutic interventions in ASD. Finally, in the health economics cluster, we will assess service utilization and ASD-related costs in order to identify potential needs and cost savings specifically tailored to Germany. The ASD-Net has been established as part of the German Research Network for Mental Disorders, funded by the BMBF (German Federal Ministry of Education and Research). DISCUSSION: The highly integrated structure of the ASD-Net guarantees sustained collaboration of clinicians and researchers to alleviate individual distress, harm, and social disability of patients with ASD and reduce costs to the German health care system. TRIAL REGISTRATION: Both clinical trials of the ASD-Net are registered in the German Clinical Trials Register: DRKS00008952 (registered on August 4, 2015) and DRKS00010053 (registered on April 8, 2016).
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8. 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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9. 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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10. Salter EK. {{Reimagining Childhood: Responding to the Challenge Presented by Severe Developmental Disability}}. {HEC Forum}. 2017.
Through an exploration of the experience of severe and profound intellectual disability, this essay will attempt to expose the predominant, yet usually obscured, medical anthropology of the child and examine its effects on pediatric bioethics. I will argue that both modern western society and modern western medicine do, actually, have a robust notion of the child, a notion which can find its roots in three influential thinkers: Aristotle, Immanuel Kant and Jean Piaget. Together, these philosophers offer us a compelling vision: the child is primarily a future rational, autonomous adult. While this tacit understanding has arguably widespread effects on such things as our concept of good parenting, of proper schooling, and so on, I will focus on the effect is has on the treatment of children with severe developmental disabilities. When examined in light of this population, the dominant medical anthropology of the child will be shown to be deficient. Instead, I argue for an expansion-indeed, a full reimagining-of our notions of childhood, not only to re-infuse dignity into the lives of children with SDD, but to better represent the goods of childhood, generally.
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11. Shmaya Y, Eilat-Adar S, Leitner Y, Reif S, Gabis LV. {{Meal time behavior difficulties but not nutritional deficiencies correlate with sensory processing in children with autism spectrum disorder}}. {Res Dev Disabil}. 2017; 66: 27-33.
BACKGROUND: Food aversion and nutritional difficulties are common in children with autism spectrum disorder. AIM: To compare meal time behavior of children with autism to their typically developing siblings and to typical controls and to examine if sensory profiles can predict meal time behavior or nutritional deficiencies in the autism group.
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12. Singh S, Yazdani U, Gadad B, Zaman S, Hynan LS, Roatch N, Schutte C, Marti CN, Hewitson L, German DC. {{Serum thyroid-stimulating hormone and interleukin-8 levels in boys with autism spectrum disorder}}. {J Neuroinflammation}. 2017; 14(1): 113.
BACKGROUND: Autism spectrum disorder (ASD) affects approximately 1 in 68 children in the USA. An ASD blood biomarker may enable early diagnosis and/or identification of new therapeutic targets. Serum samples from ASD and typically developing (TD) boys (n = 30/group) were screened for differences in 110 proteins using a multiplex immunoassay. RESULTS: Eleven proteins were found that together could confirm ASD with modest accuracy using multiple training and test sets. Two of the 11 proteins identified here were further tested using a different detection platform and with a larger sample of ASD and TD boys. The two proteins, thyroid-stimulating hormone (TSH) and interleukin-8 (IL-8), have been previously identified as putative biomarkers for ASD. TSH levels were significantly lower in ASD boys, whereas IL-8 levels were significantly elevated. The diagnostic accuracy for ASD based upon TSH or IL-8 levels alone varied from 74 to 76%, but using both proteins together, the diagnostic accuracy increased to 82%. In addition, TSH levels were negatively correlated with the Autism Diagnostic Observation Schedule subdomain scores. CONCLUSIONS: These data suggest that a panel of proteins may be useful as a putative blood biomarker for ASD.
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13. Siragusa M, Giusto S, Ferri R, Centofanti A, Schepis C. {{Plica neuropathica (matting hair) in an autistic patient}}. {J Dermatol}. 2017.
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14. Sreckovic MA, Hume K, Able H. {{Examining the Efficacy of Peer Network Interventions on the Social Interactions of High School Students with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Developing positive peer relationships is important. Unfortunately, due to challenges in social communication and increased complexity of peer groups during adolescence, many secondary students with autism spectrum disorder (ASD) engage in limited positive social interactions with peers. This study examined the effects of a peer network intervention implemented with three high school students with ASD. A multiple-baseline across participants design was used to evaluate the intervention on initiations and responses to and from students with ASD. The impact on frequency of victimization of students with ASD was also explored. Results indicate peer networks are effective at increasing social interactions of secondary students with ASD and provide preliminary support for the use of peer networks to reduce rates of bullying victimization.
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15. White EI, Wallace GL, Bascom J, Armour AC, Register-Brown K, Popal HS, Ratto AB, Martin A, Kenworthy L. {{Sex differences in parent-reported executive functioning and adaptive behavior in children and young adults with autism spectrum disorder}}. {Autism Res}. 2017.
This study is the largest to date examining executive function and adaptive skills in females with autism spectrum disorder (ASD). Its primary aim was to utilize parent ratings of real-world executive functioning and adaptive behavior to better understand whether females with ASD differ from males with ASD in these areas of everyday functioning. We compared 79 females with ASD to 158 males with ASD (ages 7-18) who were statistically matched on age, IQ, and level of ADHD or ASD traits. All participants were assessed using the Behavior Rating Inventory of Executive Function (BRIEF) and a subset (56 females and 130 males) also received the Vineland Adaptive Behavior Scales (VABS). Females were rated by parents as having greater problems with executive function on the BRIEF. Parents also rated females as exhibiting more difficulties than males on the Daily Living Skills domain of the VABS. There was a correlation between increased global EF difficulty and decreased adaptive ability in both males and females. Our results indicate relative weaknesses for females compared to males diagnosed with ASD on executive function and daily living skills. These differences occur in the absence of sex differences in our sample in age, IQ, clinician ratings of core ASD symptomatology, parent ratings of ADHD symptoms, and parent-reported social and communication adaptive skills on the VABS. These findings indicate specific liabilities in real world EF and daily living skills for females with ASD and have important implications for targeting their treatments. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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16. Wood H. {{Neurodevelopmental disorders: Metformin – a therapeutic option for fragile X syndrome?}}. {Nat Rev Neurol}. 2017.
