1. Butler K. {{Book Review: Autism spectrum disorders: Identification, education, and treatment Zager Dianne Cihak David F. Stone-MacDonald Angi . (Eds.). ( 2017 ) Autism spectrum disorders: Identification, education, and treatment ( 4th ed .). New York, NY : Routledge . 458 pp. US$69.95 . ISBN: 978-1-138-01570-8}}. {Can J Occup Ther};2018 (Apr);85(2):157.
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2. Fluegge K. {{Structural brain alterations in autism and environmental exposure to nitrous oxide}}. {Epilepsy Behav};2018 (Apr 13)
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3. Frey AJ, Small JW, Feil EG, Seeley JR, Walker HM, Forness S. {{First Step to Success: Applications to Preschoolers at Risk of Developing Autism Spectrum Disorders}}. {Educ Train Autism Dev Disabil};2015 (Dec);50(4):397-407.
Preschool children with Autism Spectrum Disorder (ASD) may not always be recognized as such during their early years, but some of their behavioral problems may nonetheless prompt a referral for behavioral intervention. Whether such an intervention brings any benefit has not been well studied. We identified a subsample of 34 preschool children at risk for autism spectrum disorder from a large randomized controlled trial (N = 126) of the First Step to Success program. Children at risk of developing ASD demonstrated significant improvements on seven of 11 outcome measures and on a responder analyses based on symptom severity. Process and fidelity measures also suggested that First Step was both feasible and socially acceptable. Implications for early intervention for children at risk of developing ASD are discussed.
4. Harris J. {{Leo Kanner and autism: a 75-year perspective}}. {Int Rev Psychiatry};2018 (Apr 18):1-15.
In 1943, Leo Kanner published the first systematic description of early infantile autism. He concluded that this was a neurodevelopmental disorder and that ‘these children have come into the world with an innate inability to form the usual, biologically provided contact with people’. Moreover, his astute descriptions of parental behavior in his first publications were prescient and underlie later recognition of the importance of genetics. Our understanding has grown over the ensuing years with revisions in diagnostic classification, recognition of the broader autism phenotype in families, appreciation of the importance of developmental models, advances in genetic methodology, better understanding of the relationship to intellectual deficits, recognition of syndromic autism in neurogenetic sydromes, advances in neuroimaging, and advances in animal models, both mutant mouse models and transgenic non human primate models. Kanner recognized diagnostic heterogeneity and opined that the children had not read those diagnostic manuals and did not easily fall into clear cut categories. Such heterogeneity continues to confound our diagnostic efforts. Always an advocate for children, when reviewing the DSM III criteria in 1980, Kanner emphasized that no matter how well developed our criteria each child must be treated as a unique person.
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5. Hisle-Gorman E, Susi A, Stokes T, Gorman G, Erdie-Lalena C, Nylund CM. {{Prenatal, perinatal, and neonatal risk factors of autism spectrum disorder}}. {Pediatr Res};2018 (Apr 18)
BackgroundWe explored the association of 29 previously reported neonatal, perinatal, and prenatal conditions, and exposures with later diagnosis of autism spectrum disorder (ASD) in a large sample of children followed over multiple years.MethodsA retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision codes for ASD between 2000 and 2013, and were matched 3:1 with controls on sex, date of birth, and enrollment time frame. Exposures included 29 conditions previously associated with ASD; 17 prenatal conditions and their pharmaceutical treatment, 5 perinatal conditions, and 6 neonatal conditions.ResultsA total of 8,760 children diagnosed with ASD between the ages of 2 and 18 years were matched with 26,280 controls. ASD is associated with maternal mental illness, epilepsy, obesity, hypertension, diabetes, polycystic ovary syndrome, infection, asthma, assisted fertility, hyperemesis, younger maternal age, labor complications, low birth weight, infant infection, epilepsy, birth asphyxia, and newborn complications. The greatest increased risk was associated with infant epilepsy (odds ratio (OR) 7.57 (5.68-10.07)), maternal mental health (OR 1.80 (1.65-1.96)), and epilepsy (OR 1.60 (1.02-2.50)) medications.ConclusionASD is associated with a range of prenatal, perinatal, and neonatal factors, with the highest magnitude associations with maternal medication use and neonatal seizure.Pediatric Research advance online publication, 11 April 2018; doi:10.1038/pr.2018.23.
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6. Jerger KK, Lundegard L, Piepmeier A, Faurot K, Ruffino A, Jerger MA, Belger A. {{Neural Mechanisms of Qigong Sensory Training Massage for Children With Autism Spectrum Disorder: A Feasibility Study}}. {Glob Adv Health Med};2018;7:2164956118769006.
Objectives: Despite the enormous prevalence of autism spectrum disorder (ASD), its global impact has yet to be realized. Millions of families worldwide need effective treatments to help them get through everyday challenges like eating, sleeping, digestion, and social interaction. Qigong Sensory Training (QST) is a nonverbal, parent-delivered intervention recently shown to be effective at reducing these everyday challenges in children with ASD. This study tested the feasibility of a protocol for investigating QST’s neural mechanism. Methods: During a single visit, 20 children, 4- to 7-year-old, with ASD viewed images of emotional faces before and after receiving QST or watching a video (controls). Heart rate variability was recorded throughout the visit, and power in the high frequency band (0.15-0.4 Hz) was calculated to estimate parasympathetic tone in 5-s nonoverlapping windows. Cerebral oximetry of prefrontal cortex was recorded during rest and while viewing emotional faces. Results: 95% completion rate and 7.6% missing data met a priori standards confirming protocol feasibility for future studies. Preliminary data suggest: (1) during the intervention, parasympathetic tone increased more in children receiving massage (M = 2.9, SD = 0.3) versus controls (M = 2.5, SD = 0.5); (2) while viewing emotional faces post-intervention, parasympathetic tone was more affected (reduced) in the massage group (p = 0.036); and (3) prefrontal cortex response to emotional faces was greater after massage compared to controls. These results did not reach statistical significance in this small study powered to test feasibility. Discussion/Conclusion: This study demonstrates solid protocol feasibility. If replicated in a larger sample, these findings would provide important clues to the neural mechanism of action underlying QST’s efficacy for improving sensory, social, and communication difficulties in children with autism.
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7. Kirsch SF, Meryash DL, Gonzalez-Arevalo B. {{Determinants of Parent Satisfaction with Emergency or Urgent Care When the Patient Has Autism}}. {J Dev Behav Pediatr};2018 (Apr 16)
OBJECTIVE: The purpose of this study was to identify factors that predict parent satisfaction (PS) with their child with autism spectrum disorder (ASD)’s visit to a hospital emergency department (ED) or urgent care (UC) center. METHODS: Parents recruited through a national database whose child (3-21 years; N = 378) with ASD had been treated in an ED/UC center within the previous 3 years completed an anonymous on-line questionnaire. They answered questions about whether they were satisfied overall with the visit and the care provided, their demographics, patient characteristics, their expectations and preparation for the visit, and the ED/UC center experience itself, including their observations of staff interpersonal and communication skills (ICSs) and behaviors, and whether the patient was disruptive (D). Multiple correspondence analysis (MCA) was used to demonstrate the relative effects of individual variables on PS. RESULTS: Among the 10 most important determinants of PS with the visit were the 9 assessed staff ICS behaviors. These were followed by shorter than expected waiting time and the patient not being disruptive (ND) during the visit. PS was not associated with any of the 3 measures of patient disability severity (ASD subtype, communicative competence, or restrictiveness of educational placement), whether the patient is hyperreactive to sensory stimuli, reason for the visit, or parent’s education. CONCLUSION: PS with an ED/UC center visit when the patient has autism depends mostly on the quality of staff interactions with the patient and family. It is important for ED/UC center administrators to ensure that staff understand how to interact and communicate effectively with patients with ASD and their families.
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8. Klein-Tasman BP, van der Fluit F, Mervis CB. {{Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language}}. {J Autism Dev Disord};2018 (Apr 18)
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.
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9. Krakowski A, Ickowicz A. {{Stimulant Withdrawal in a Child with Autism Spectrum Disorder and ADHD – A Case Report}}. {J Can Acad Child Adolesc Psychiatry};2018 (Apr);27(2):148-151.
Objective: To consider whether the concepts of tolerance and withdrawal to stimulant medications apply to a preadolescent female, affected by autism spectrum disorder (ASD) and treated for associated attention-deficit/hyperactivity disorder (ADHD). Methods: We describe the case history and review scientific English language literature pertaining to acute withdrawal effects associated with methylphenidate and amphetamine derivatives in children. Results: An 11-year-old female with ASD and ADHD referred to our clinic experienced vomiting, headaches, and light sensitivity following abrupt discontinuation of methylphenidate; she subsequently presented with migraines and marked malaise immediately after a dose reduction in lisdexamfetamine. Evidence supports the notion that ADHD symptoms in children with ASD can be effectively treated with methylphenidate; however, beneficial effects are less robust relative to children with a primary ADHD diagnosis. Children affected by ASD are also more susceptible to adverse effects. Literature on withdrawal from stimulants in children is limited to case studies; in contrast, in the adult population more information is available, especially in adults with substance abuse disorders. Adults experiencing stimulant withdrawal often experience depression, fatigue, changes in appetite, and insomnia or hypersomnia. Conclusions: We argue that tolerance to stimulants was conceivably developing in this young female, and consequently discontinuation of methylphenidate and dose reduction of lisdexamfetamine resulted in withdrawal symptoms. Children with ASD are more sensitive to stimulant medications and we wonder whether this extends to an increased sensitivity to developing tolerance to stimulant medication. Clinicians ought to be vigilant about the emergence of symptomology suggestive of withdrawal phenomena following stimulant discontinuation.
10. McCarthy JW, Benigno JP, Broach J, Boster JB, Wright BM. {{Identification and drawing of early concepts in children with autism spectrum disorder and children without disability}}. {Augment Altern Commun};2018 (Apr 16):1-11.
This comparative study is a replication and extension of previous work related to children’s drawings of early concepts. In all, 15 children with autism spectrum disorder (ASD) and 19 children without disability took part in the study, and were video recorded as they drew 10 early emerging concepts such as « eat » and « more. » In a second task, the participants were asked to label Picture Communication Symbols conventionally used in augmentative and alternative communication (AAC) systems. Descriptive, correlational, and inferential statistics were used to analyze the data. The results were consistent with previous research for both groups. Across the 10 features coded, participants in both groups drew entire scenes and were more likely to draw complete representations of people. Identification of PCS was less than 25% for both groups. After a brief time delay, the participants were able to remember the names of their drawings; however, performance on this recall task was positively related to their age. The language scores of the participants without disability were associated with their use of isolated parts in drawings. Trends in the data suggest potential avenues for follow up with larger studies examining use of self, others, and entire scenes in children with ASD. Implications for therapy and future directions pertaining to symbolic understanding in children with ASD are discussed.
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11. Morris R, Muskat B, Greenblatt A. {{Working with children with autism and their families: pediatric hospital social worker perceptions of family needs and the role of social work}}. {Soc Work Health Care};2018 (Apr 18):1-19.
Social workers with knowledge of autism can be valuable contributors to client- and family-centered healthcare services. This study utilized a qualitative design to explore pediatric hospital social workers’ experiences and perceptions when working with children and youth with autism and their families. Interviews with 14 social workers in a Canadian urban pediatric hospital highlighted perceptions of the needs of families of children with autism in the hospital and challenges and benefits related to the role of social work with these families. Results suggest that pediatric social workers may benefit from opportunities to develop autism-relevant knowledge and skills.
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12. Nylander L, Axmon A, Bjorne P, Ahlstrom G, Gillberg C. {{Older Adults with Autism Spectrum Disorders in Sweden: A Register Study of Diagnoses, Psychiatric Care Utilization and Psychotropic Medication of 601 Individuals}}. {J Autism Dev Disord};2018 (Apr 16)
In a Swedish sample of persons eligible for disability services and aged 55 years or older in 2012, persons (n = 601) with autism spectrum disorder diagnoses registered in specialist care were identified. Register data concerning diagnoses of other psychiatric disorders, psychiatric care, and psychiatric medication were reviewed. More than 60% had been in contact with psychiatric care. The majority had no intellectual disability (ID) diagnosis recorded during the study period. Apart from ID, affective disorders, anxiety and psychotic disorders were most commonly registered; alcohol/substance abuse disorders were uncommon. Psychotropic drug prescriptions were very common, especially in the ID group. Professionals need awareness of this vulnerable group; studies concerning their life circumstances and service requirements should be conducted.
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13. Sen B, Borle NC, Greiner R, Brown MRG. {{A general prediction model for the detection of ADHD and Autism using structural and functional MRI}}. {PLoS One};2018;13(4):e0194856.
This work presents a novel method for learning a model that can diagnose Attention Deficit Hyperactivity Disorder (ADHD), as well as Autism, using structural texture and functional connectivity features obtained from 3-dimensional structural magnetic resonance imaging (MRI) and 4-dimensional resting-state functional magnetic resonance imaging (fMRI) scans of subjects. We explore a series of three learners: (1) The LeFMS learner first extracts features from the structural MRI images using the texture-based filters produced by a sparse autoencoder. These filters are then convolved with the original MRI image using an unsupervised convolutional network. The resulting features are used as input to a linear support vector machine (SVM) classifier. (2) The LeFMF learner produces a diagnostic model by first computing spatial non-stationary independent components of the fMRI scans, which it uses to decompose each subject’s fMRI scan into the time courses of these common spatial components. These features can then be used with a learner by themselves or in combination with other features to produce the model. Regardless of which approach is used, the final set of features are input to a linear support vector machine (SVM) classifier. (3) Finally, the overall LeFMSF learner uses the combined features obtained from the two feature extraction processes in (1) and (2) above as input to an SVM classifier, achieving an accuracy of 0.673 on the ADHD-200 holdout data and 0.643 on the ABIDE holdout data. Both of these results, obtained with the same LeFMSF framework, are the best known, over all hold-out accuracies on these datasets when only using imaging data-exceeding previously-published results by 0.012 for ADHD and 0.042 for Autism. Our results show that combining multi-modal features can yield good classification accuracy for diagnosis of ADHD and Autism, which is an important step towards computer-aided diagnosis of these psychiatric diseases and perhaps others as well.
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14. Smith IN, Thacker S, Jaini R, Eng C. {{Dynamics and Structural Stability Effects of Germline PTEN Mutations Associated with Cancer versus Autism Phenotypes}}. {J Biomol Struct Dyn};2018 (Apr 17):1-44.
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we sought to identify differences in ASD vs. cancer-associated germline PTEN missense mutations by investigating putative structural effects induced by each mutation. We utilized a theoretical computational approach combining in silico structural analysis and molecular dynamics (MD) to interrogate 17 selected mutations from our patient population: six mutations were observed in patients with ASD (only), six mutations in patients with PHTS-associated cancer (only), four mutations shared across both phenotypes, and one mutation with both ASD and cancer. We demonstrate structural stability changes where all six cancer-associated mutations showed a global decrease in structural stability and increased dynamics across the domain interface with a proclivity to unfold, mediating a closed (inactive) active site. In contrast, five of the six ASD-associated mutations showed localized destabilization that contribute to the partial opening of the active site. Our results lend insight into distinctive structural effects of germline PTEN mutations associated with PTEN-ASD vs. those associated with PTEN-cancer, potentially aiding in identification of the shared and separate molecular features that contribute to autism or cancer, thus, providing a deeper understanding of genotype-phenotype relationships for germline PTEN mutations.
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15. Vicedo M. {{Ethopathology and Civilization Diseases: Niko and Elisabeth Tinbergen on Autism}}. {Can Bull Med Hist};2018 (Apr 16):1-31.
The idea that some diseases result from a poor fit between modern life and our biological make-up is part of the long history of what historian of medicine Charles Rosenberg has called the « progress-and-pathology narrative. » This article examines a key episode in that history: 1973 Nobel laureate Niko Tinbergen’s use of an evolutionary framework to identify autism as a pathogenic effect of progress. Influenced by British psychiatrist John Bowlby’s work, Tinbergen and his wife Elisabeth saw autistic children as victims of environmental stress caused mainly by mothers’ failure to bond with their children and to protect them from conflicting situations. However, the author argues that their position was not « environmental. » For them, autism was due to a failure of socialization but the mechanisms that explain that failure were established by biological evolution. Situating their views within the context of Niko’s concern about the derailment of biological evolution by cultural evolution, this article shows that their ideas are of special significance for understanding the persistence of the view that civilization poses a risk to human health.
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16. Wilson CE, Saldana D. {{No evidence of atypical attentional disengagement in autism: A study across the spectrum}}. {Autism};2018 (Apr 1):1362361318768025.
The ability to disengage attention and reengage elsewhere has been proposed as a fundamental deficit in the autism spectrum, potentially disrupting development of higher cognitive domains. Eye-movements were recorded while 16 autism spectrum children of mixed ability, and 18 typically developing age-matched controls, completed the Gap-Overlap paradigm. A significant difference in latency to fixate target was found between Gap and Overlap conditions. A significant interaction with group was due to autism spectrum participants’ shorter latencies to fixate target in the Gap condition, but similar group responses in the Overlap condition. Considerable within-group variability emerged. We predicted that attentional disengaging would be related to specific features of the phenotype; however, there was no evidence of an association with receptive language, non-verbal IQ, sensory behaviors, or autistic severity in autism spectrum or typically developing groups. In conclusion, while atypical visual attention mechanisms may be a feature of autism spectrum, this is not explained by impaired visual disengaging but is more likely due to increased susceptibility of visual fixation offset cueing. Despite best efforts, nine additional autism spectrum children could not complete testing, and data from a further six were unusable; more work is needed to develop research methods that enable individuals across the spectrum to participate.