1. Brian J, Doyle-Thomas K, Baribeau D, Anagnostou E. {{Novel mechanisms and treatment approaches in autism spectrum disorder}}. {Discov Med};2016 (Aug);22(119):47-54.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by marked heterogeneity in biology, expression, and response to treatment. The past decade has yielded considerable progress in understanding the underlying biological mechanisms, in characterizing the earliest behavioral phenotype(s), and in developing and evaluating effective treatments for ASD. This review highlights recent research advances in genetics and neuroimaging, as well as in novel behavioral and psychopharmacological treatment approaches, arguing for the value of trans-disciplinary initiatives to move the field forward exponentially. Despite considerable complexity, patterns are beginning to emerge that can inform the identification of novel treatment targets and approaches. The next generation of major innovations in ASD research will involve collaborations across genetics/genomics, neuroimaging, and intervention science. Such efforts, currently under way, hold tremendous promise for exponentially increasing our capacity to understand the mechanisms that contribute to the emergence of ASD and to develop and evaluate personalized interventions that yield maximal impact in a meaningful way.
2. Edey R, Cook J, Brewer R, Johnson MH, Bird G, Press C. {{Interaction Takes Two: Typical Adults Exhibit Mind-Blindness Towards Those With Autism Spectrum Disorder}}. {J Abnorm Psychol};2016 (Sep 1)
Recent work suggests that we are better at interpreting the movements of others who move like us, and that individuals with Autism Spectrum Disorder (ASD) move in a quantifiably different way from typical individuals. Therefore, « social impairments » exhibited by individuals with ASD may, at least in part, represent a failure by typical individuals to infer the correct mental states from the movements of those with ASD. To examine this possibility, individuals with ASD and typical adults manually directed 2 triangles to generate animations depicting mental state interactions. Kinematic analysis of the generated animations demonstrated that the participants with ASD moved atypically, specifically with increased jerk compared to the typical participants. In confirmation of our primary hypothesis, typical individuals were better able to identify the mental state portrayed in the animations produced by typical, relative to autistic, individuals. The participants with ASD did not show this « same group » advantage, demonstrating comparable performance for the 2 sets of animations. These findings have significant implications for clinical assessment and intervention in ASD, and potentially other populations with atypical movement. (PsycINFO Database Record
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3. Hannant P, Cassidy S, Tavassoli T, Mann F. {{Sensorimotor Difficulties Are Associated with the Severity of Autism Spectrum Conditions}}. {Front Integr Neurosci};2016;10:28.
Present diagnostic criteria for autism spectrum conditions (ASC) include social communication and interaction difficulties, repetitive behavior and movement, and atypical sensory responsivity. Few studies have explored the influence of motor coordination and sensory responsivity on severity of ASC symptoms. In the current study, we explore whether sensory responsivity and motor coordination differences can account for the severity of autistic behaviors in children with ASC. Thirty-six children participated: 18 (13 male, 5 female) with ASC (ages 7-16: mean age = 9.93 years) and 18 (7 male, 11 female) typically developing (TD) children (ages 6-12; mean age = 9.16 years). Both groups completed a battery of assessments that included motor coordination, sensory responsivity, receptive language, non-verbal reasoning and social communication measures. Children with ASC also completed the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R). Results showed that children with ASC scored significantly lower on receptive language, coordination, sensory responsivity and a sensorimotor subscale, Modulation of Activity (MoA) compared to the TD group. In the ASC group, MoA significantly predicted ASC severity across all ASC measures; receptive language and sensory responsivity significantly predicted parental reported autism measures; and coordination significantly predicted examiner observed reported scores. Additionally, specific associations were found between the somatosensory perceptive modalities and ASC severity. The results show that sensorimotor skills are associated with severity of ASC symptoms; furthering the need to research sensorimotor integration in ASC and also implying that diagnosis of ASC should also include the assessment of both coordination deficit and atypical sensory responsivity.
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4. Inoue R, Sakaue Y, Sawai C, Sawai T, Ozeki M, Romero-Perez GA, Tsukahara T. {{A preliminary investigation on the relationship between gut microbiota and gene expressions in peripheral mononuclear cells of infants with autism spectrum disorders}}. {Biosci Biotechnol Biochem};2016 (Sep 1):1-9.
Fecal and blood samples of infants with autism spectrum disorders (ASD) and healthy infants were analyzed to investigate the association of altered gut microbiota and ASD development. 16S rRNA gene-based sequencing found that, unlike those of healthy infants, feces of ASD infants had significantly higher and lower abundance of genera Faecalibacterium and Blautia, respectively. Moreover, DNA microarray analysis of peripheral blood mononuclear cells (PBMC) detected more highly than low expressed genes in ASD infants than in healthy infants. Gene Ontology analysis revealed that differentially expressed genes between ASD and healthy infants were involved in interferon (IFN)-gamma and type-I IFN signaling pathways. Finally, strong positive correlations between expression of IFN signaling-associated genes in PBMC and fecal abundance of Faecalibacterium were found. Our results strongly suggested that altered gut microbiota in infants resulted from ASD development and was associated with systemic immunity dysregulation, especially chronic inflammation.
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5. Jane Webb S, Garrison MM, Bernier R, McClintic AM, King BH, Mourad PD. {{Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound}}. {Autism Res};2016 (Sep 1)
Current research suggests that incidence and heterogeneity of autism spectrum disorder (ASD) symptoms may arise through a variety of exogenous and/or endogenous factors. While subject to routine clinical practice and generally considered safe, there exists speculation, though no human data, that diagnostic ultrasound may also contribute to ASD severity, supported by experimental evidence that exposure to ultrasound early in gestation could perturb brain development and alter behavior. Here we explored a modified triple hit hypothesis [Williams & Casanova, ] to assay for a possible relationship between the severity of ASD symptoms and (1) ultrasound exposure (2) during the first trimester of pregnancy in fetuses with a (3) genetic predisposition to ASD. We did so using retrospective analysis of data from the SSC (Simon’s Simplex Collection) autism genetic repository funded by the Simons Foundation Autism Research Initiative. We found that male children with ASD, copy number variations (CNVs), and exposure to first trimester ultrasound had significantly decreased non-verbal IQ and increased repetitive behaviors relative to male children with ASD, with CNVs, and no ultrasound. These data suggest that heterogeneity in ASD symptoms may result, at least in part, from exposure to diagnostic ultrasound during early prenatal development of children with specific genetic vulnerabilities. These results also add weight to on-going concerns expressed by the FDA about non-medical use of diagnostic ultrasound during pregnancy. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Kairys SW, Petrova A. {{Role of Participation of Pediatricians in the « Activated Autism Practice » Program in Practicing Children With Autism Spectrum Disorders at the Primary Care Setting}}. {Glob Pediatr Health};2016;3:2333794X16663544.
Primary care of children with autism spectrum disorders (ASD) is an important public health concerns. In this survey study of 73 pediatricians, we determined whether pediatricians’ practice of autism screening and perception of management of ASD is associated with participation in a learning collaborative, « Activated Autism Practice ». Overall, the majority recognized the lack of care coordination, inadequate time, poor reimbursement, and language difference as barriers to the delivery of medical care to children with ASD. Pediatricians with prior training were more likely to report use of autism-specific screening and understanding the different aspects of ASD management including the need to coordinate special services and long-term surveillance at pediatric sites. Therefore, participation in « Activated Autism Practice » may facilitate use of ASD-specific screening and manage ASD cases as a complex of neurodevelopmental/underlying problems with the need for enhancement of clinical attention and coordination of medical care at the pediatric primary care level.
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7. Kozlowski KF, McDonald CA, Thomeer ML, Lopata C. {{Depression Related To Activity In Typically Developing Children But Not In Children With Autism: 2295 Board #5 June 2, 3: 15 PM – 5: 15 PM}}. {Med Sci Sports Exerc};2016 (May);48(5 Suppl 1):639.
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8. Lin E, Balogh R, McGarry C, Selick A, Dobranowski K, Wilton AS, Lunsky Y. {{Substance-related and addictive disorders among adults with intellectual and developmental disabilities (IDD): an Ontario population cohort study}}. {BMJ Open};2016;6(9):e011638.
OBJECTIVES: Describe the prevalence of substance-related and addictive disorders (SRAD) in adults with intellectual and developmental disabilities (IDD) and compare the sociodemographic and clinical characteristics of adults with IDD and SRAD to those with IDD or SRAD only. DESIGN: Population-based cohort study (the Health Care Access Research and Development Disabilities (H-CARDD) cohort). SETTING: All legal residents of Ontario, Canada. PARTICIPANTS: 66 484 adults, aged 18-64, with IDD identified through linked provincial health and disability income benefits administrative data from fiscal year 2009. 96 589 adults, aged 18-64, with SRAD but without IDD drawn from the provincial health administrative data. MAIN OUTCOME MEASURES: Sociodemographic (age group, sex, neighbourhood income quintile, rurality) and clinical (psychiatric and chronic disease diagnoses, morbidity) characteristics. RESULTS: The prevalence of SRAD among adults with IDD was 6.4%, considerably higher than many previous reports and also higher than found for adults without IDD in Ontario (3.5%). Among those with both IDD and SRAD, the rate of psychiatric comorbidity was 78.8%, and the proportion with high or very high overall morbidity was 59.5%. The most common psychiatric comorbidities were anxiety disorders (67.6%), followed by affective (44.6%), psychotic (35.8%) and personality disorders (23.5%). These adults also tended to be younger and more likely to live in the poorest neighbourhoods compared with adults with IDD but no SRAD and adults with SRAD but no IDD. CONCLUSIONS: SRAD is a significant concern for adults with IDD. It is associated with high rates of psychiatric and other comorbidities, indicating that care coordination and system navigation may be important concerns. Attention should be paid to increasing the recognition of SRAD among individuals with IDD by both healthcare and social service providers and to improving staff skills in successfully engaging those with both IDD and SRAD.
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9. Ma WY, Sung MC, Huang CY, Chen PL, Pan CY, Tsai CL. {{Motor Proficiency And Executive Function In Children Diagnosed With ASD And ADHD: 1793 Board #4 June 2, 1: 00 PM – 3: 00 PM}}. {Med Sci Sports Exerc};2016 (May);48(5 Suppl 1):488.
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10. Machado FP, Palladino RR, Damasceno LL, Cunha MC. {{Appropriateness of Using Autism Spectrum Disorders Screening Tools in a Hearing Evaluation Service}}. {Folia Phoniatr Logop};2016 (Sep 2);68(2):60-66.
OBJECTIVE: The aim was to test the appropriateness of using autism spectrum disorder (ASD) screening tools in a hearing evaluation service. PATIENTS AND METHODS: Forty-one children with a mean age of 2.8 years, of whom 33 (80.5%) were boys, were evaluated in an audiological diagnostic service using ASD screening tools that had been validated for use in Brazil and recommended by the Ministry of Health. RESULTS: 82% of the subjects referred to the hearing diagnostic service over 18 months did not show any type of hearing loss, but 60% had early signs of autism. 10% had hearing loss and were at risk for autism. CONCLUSION: The data emphasize the importance of the awareness and the training of professionals working with young children in ASD screening. The data also suggest that screening young children in a hearing evaluation service may contribute to more timely identification of children at risk for ASD.
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11. Pas ET, Johnson SR, Larson KE, Brandenburg L, Church R, Bradshaw CP. {{Reducing Behavior Problems Among Students with Autism Spectrum Disorder: Coaching Teachers in a Mixed-Reality Setting}}. {J Autism Dev Disord};2016 (Sep 2)
Most approaches aiming to reduce behavior problems among youth with Autism Spectrum Disorder (ASD) focus on individual students; however, school personnel also need professional development to better support students. This study targeted teachers’ skill development to promote positive outcomes for students with ASD. The sample included 19 teachers in two non-public special education settings serving students with moderate to severe ASD. Participating teachers received professional development and coaching in classroom management, with guided practice in a mixed-reality simulator. Repeated-measures ANOVAs examining externally-conducted classroom observations revealed statistically significant improvements in teacher management and student behavior over time. Findings suggest that coaching and guided practice in a mixed-reality simulator is perceived as acceptable and may reduce behavior problems among students with ASD.
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12. Peter S, Ten Brinke MM, Stedehouder J, Reinelt CM, Wu B, Zhou H, Zhou K, Boele HJ, Kushner SA, Lee MG, Schmeisser MJ, Boeckers TM, Schonewille M, Hoebeek FE, De Zeeuw CI. {{Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice}}. {Nat Commun};2016;7:12627.
Loss-of-function mutations in the gene encoding the postsynaptic scaffolding protein SHANK2 are a highly penetrant cause of autism spectrum disorders (ASD) involving cerebellum-related motor problems. Recent studies have implicated cerebellar pathology in the aetiology of ASD. Here we evaluate the possibility that cerebellar Purkinje cells (PCs) represent a critical locus of ASD-like pathophysiology in mice lacking Shank2. Absence of Shank2 impairs both PC intrinsic plasticity and induction of long-term potentiation at the parallel fibre to PC synapse. Moreover, inhibitory input onto PCs is significantly enhanced, most prominently in the posterior lobe where simple spike (SS) regularity is most affected. Using PC-specific Shank2 knockouts, we replicate alterations of SS regularity in vivo and establish cerebellar dependence of ASD-like behavioural phenotypes in motor learning and social interaction. These data highlight the importance of Shank2 for PC function, and support a model by which cerebellar pathology is prominent in certain forms of ASD.
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13. Schenkel LC, Schwartz C, Skinner C, Rodenhiser D, Ainsworth P, Pare G, Sadikovic B. {{Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array}}. {J Mol Diagn};2016 (Aug 29)
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. It is most frequently caused by an abnormal expansion of the CGG trinucleotide repeat (>200 repeats) located in the promoter of the fragile X mental retardation gene (FMR1), resulting in promoter DNA hypermethylation and gene silencing. Current clinical tests for FXS are technically challenging and labor intensive, and may involve use of hazardous chemicals or radioisotopes. We clinically validated the Illumina Infinium HumanMethylation450 DNA methylation array for FXS screening. We assessed genome-wide and FMR1-specific DNA methylation in 32 males previously diagnosed with FXS, including nine with mosaicism, as well as five females with full mutation, and premutation carrier males (n = 11) and females (n = 11), who were compared to 300 normal control DNA samples. Our findings demonstrate 100% sensitivity and specificity for detection of FXS in male patients, as well as the ability to differentiate patients with mosaic methylation defects. Full mutation and premutation carrier females did not show FMR1 methylation changes. We have clinically validated this genome-wide DNA methylation assay as a cost- and labor-effective alternative for sensitive and specific screening for FXS, while ruling out the most common differential diagnoses of FXS, Prader-Willi syndrome, and Sotos syndrome in the same assay.
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14. Skalny AV, Simashkova NV, Klyushnik TP, Grabeklis AR, Bjorklund G, Skalnaya MG, Nikonorov AA, Tinkov AA. {{Hair toxic and essential trace elements in children with autism spectrum disorder}}. {Metab Brain Dis};2016 (Aug 31)
The objective of the study was to investigate hair trace elements content in children suffering from autism spectrum disorder (ASD). A total of 74 ASD children and 74 sex- and age-matched controls divided into two age groups (2-4 and 5-9 years) were investigated. Hair trace elements content was assessed using inductively coupled plasma mass spectrometry. A general cohort of ASD children was characterized by 29 %, 41 %, and 24 % lower hair levels of chromium (Cr), iodine (I), and vanadium (V), respectively, whereas the level of selenium (Se) exceeded the respective control values by 31 %. In ASD children aged 2-4 years hair Cr, I and V content was 68 %, 36 % and 41 % lower than in the controls. Older ASD children were characterized by 45 % increase in hair Se levels. In a general cohort of ASD children hair beryllium (Be) and tin (Sn) levels were 50 % and 34 % lower than the control values. In the first age group (2-4 years) of ASD children 34 %, 42 %, and 73 % lower levels of arsenic (As), boron (B), and Be were detected. In the second age group of ASD children only a nearly significant 25 % decrease in hair lead (Pb) was detected. Surprisingly, no significant group difference in hair mercury (Hg), zinc (Zn), and copper (Cu) content was detected. Generally, the results of the present study demonstrate that children with ASD are characterized by lower values in hair of not only essential but also toxic trace elements.
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15. Wibisono WL, Suharsini M, Wiguna T, Sudiroatmodjo B, Budiardjo SB, Auerkari EI. {{Perception of dental visit pictures in children with autism spectrum disorder and their caretakers: A qualitative study}}. {J Int Soc Prev Community Dent};2016 (Jul-Aug);6(4):359-365.
OBJECTIVES: One of the most common ways to communicate to children with autism spectrum disorder (ASD) is by using pictures. This study was conducted to identify the easiest perception of dental visit by children with ASD when using pictures as printed photographs. MATERIALS AND METHODS: Purposive sampling was used to recruit participants from a school for children with special needs in south Jakarta. Semi-structured interviews were conducted with 10 autistic children aged 13-17 years, 2 parents, and 2 teachers. Open-ended questions were asked to participants regarding pictures of dental clinic personnel and activity. Conversations were noted, tape recorded, and then categorized to extract a theme. The data were analyzed using Dedoose mixed methods software. RESULTS: Most respondents showed a positive perception of the dental visit pictures. Many of the pictures were easily recognized by children with ASD, but some failed to be understood. Caretakers not only gave their perception but also recommendations for improvement of the pictures. CONCLUSIONS: Dental visit pictures could be used as useful communication tools for children with ASD. Based on the results, the pictures related to dental visit were generally easy to understand, however, some needed correction to be comprehensible.
