1. Bast N, Poustka L, Freitag CM. {{The locus coeruleus – norepinephrine system as pacemaker of attention -A developmental mechanism of derailed attentional function in autism spectrum disorder}}. {Eur J Neurosci};2017 (Dec 15)
Children with autism spectrum disorder (ASD) exhibit diminished visual engagement to environmental stimuli. Aberrant attentional function provides an explanation by reduced phasic alerting and orienting to exogenous stimuli. We review aberrant attentional function (alerting, orienting, and attentional control) in children with ASD as studied by neurocognitive and neurophysiological tasks as well as magnetic resonance imaging studies. The locus coeruleus – norepinephrine (LC-NE) system is outlined as a pacemaker of attentional function. The LC-NE system regulates adaptive gain in synaptic signal transmission, which moderates phasic alerting (‘promoting’) and the activation of the ventral frontoparietal attention network within orienting (‘permitting’). In children with ASD, atypical LC-NE activity is proposed as underlying mechanism of aberrant attentional function. It may manifest as a) increased tonic activity with reduced phasic reactivity to exogenous stimuli, b) attenuated bottom-up signaling mitigating salience and predictive reward attribution during phasic alerting, and c) reduced activation of the ventral frontoparietal attention system attenuating orienting to exogenous stimuli. Increased tonic pupil dilation and aberrant pupil reactivity are discussed as indicators of atypical LC-NE activity. Pupillometry is outlined as feasible method to assess alerting, orienting, and attentional control that can be dissected from the pupil dilation time course. In children with ASD, aberrant attentional function through atypical LC-NE activity is proposed as developmental mechanism leading to reduced social attention as well as social interaction and communication impairments. This article is protected by copyright. All rights reserved.
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2. Ferman S, Bar-On A. {{Morpho-Orthographic Processing in Children with Autism Spectrum Disorder: The Case of Hebrew Orthography}}. {Folia Phoniatr Logop};2017;69(1-2):54-66.
OBJECTIVE: Most studies on word reading in children with autism spectrum disorder (ASD) focus on graphemic-phonemic decoding and the direct orthographic route. To extend the scope, we investigated morpho-orthographic identification beyond graphemic-phonemic abilities. PATIENTS AND METHODS: The original study included 31 sixth-grade children with ASD and comparison groups of typically developing (TD) children: 23 age-matched children, 15 third-graders, and 17 second-graders. The groups were compared regarding reading of morphologically based Hebrew pointed pseudowords to examine graphemic-phonemic decoding, and unpointed pseudowords to test morpho-orthographic identification. To better focus on morpho-orthographic identification processes, we eventually included only children with a minimum threshold of >/=65% correct in reading pointed pseudowords, thereby excluding 11 children with ASD, 1 TD age-matched child, and 1 TD third-grader. RESULTS: About half of the children with ASD eventually included were as accurate as the TD second-graders in reading unpointed pseudowords, and slow in reading both pointed and unpointed pseudowords. The other half were as accurate as their typical peers in reading unpointed pseudowords, but slightly slower. CONCLUSION: The results highlight the difficulties many Hebrew-reading children with ASD experience in using morpho-orthographic processes beyond their difficulties in using graphemic-phonemic processes, demonstrating effortful (slow) reading. While this study can be considered a pilot investigation, further studies are needed.
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3. Getahun D, Jacobsen SJ, Fassett MJ, Wing DA, Xiang AH, Chiu V, Peltier MR. {{Association between maternal hypothyroidism and autism spectrum disorders in the children}}. {Pediatr Res};2017 (Dec 15)
OBJECTIVE: To determine if hypothyroidism is associated with ASD and how this association is influenced by race-ethnicity, sex, and timing of exposure. METHODS: A retrospective cohort study was conducted using records from 397201 children who were delivered from 1991-2011 and remained health plan members from 1993-2014. RESULTS: Children of hypothyroid women had higher ASD rates than children of women without the diagnosis (2.14 vs. 1.62/1000 person-years; and adjusted hazard ratios [adj.HR], 1.31; 95% CI, 1.13-1.53). This occurred in women diagnosed prior to as well as during pregnancy. Maternal hypothyroidism was associated with ASD for both boys (3.93 vs. 2.62/1000 person-years; adj.HR, 1.27; 95% CI, 1.07-1.50) and girls (1.10 vs. 0.61/1000 person-years; adj.HR, 1.51; 95% CI, 1.10-2.08). Of women with a diagnosis of hypothyroidism during pregnancy, normal TSH and fT4 levels were not associated with increased risk of ASD in the children. Compared with white children, prenatal hypothyroidism was associated with increased risk of ASD in the children of Hispanics (adj.HR, 1.09; 95% CI, 1.01-1.17) and women of Other/Mixed race-ethnicity (adj.HR, 1.08; 95% CI, 1.00-1.16). CONCLUSIONS: Maternal hypothyroidism is associated with ASD in the children in a manner dependent on race-ethnicity. Management of maternal hypothyroidism may ameliorate the risk of ASD.Pediatric Research accepted article preview online, 15 December 2017. doi:10.1038/pr.2017.308.
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4. Gillon G, Hyter Y, Fernandes FD, Ferman S, Hus Y, Petinou K, Segal O, Tumanova T, Vogindroukas I, Westby C, Westerveld M. {{International Survey of Speech-Language Pathologists’ Practices in Working with Children with Autism Spectrum Disorder}}. {Folia Phoniatr Logop};2017;69(1-2):8-19.
OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental impairment. To better understand the role of speech-language pathologists (SLPs) in different countries in supporting children with ASD, the International Association of Logopedics and Phoniatrics (IALP) Child Language Committee developed a survey for SLPs working with children or adolescents with ASD. Method and Participants: The survey comprised 58 questions about background information of respondents, characteristics of children with ASD, and the role of SLPs in diagnosis, assessment, and intervention practices. The survey was available in English, French, Russian, and Portuguese, and distributed online. RESULTS: This paper provides a descriptive summary of the main findings from the quantitative data from the 1,114 SLPs (representing 35 countries) who were supporting children with ASD. Most of the respondents (91%) were experienced in working with children with ASD, and the majority (75%) worked in schools or early childhood settings. SLPs reported that the children’s typical age at diagnosis of ASD on their caseload was 3-4 years, completed mostly by a professional team. CONCLUSIONS: The results support positive global trends for SLPs using effective practices in assessment and intervention for children with ASD. Two areas where SLPs may need further support are involving parents in assessment practices, and supporting literacy development in children with ASD.
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5. Gold WA, Krishnarajy R, Ellaway C, Christodoulou J. {{Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities}}. {ACS Chem Neurosci};2017 (Dec 15)
Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females resulting in severe cognitive and physical disabilities. Despite the commendable collective efforts of the research community to better understand the genetics and underlying biology of RTT, there is still no cure. However, in the past 50 years, since the first report of RTT, steady progress has been made in the accumulation of clinical and molecular information resulting in the identification of a number of genes associated with RTT and associated phenotypes, improved diagnostic criteria, natural history studies, curation of a number of databases capturing genotypic and phenotypic data, a number of promising clinical trials and exciting novel therapeutic options which are currently being tested in laboratory and clinical settings. This Review focuses on the current knowledge of the clinical aspects of RTT, with particular attention being paid to clinical trials and the comorbidities of the disorder as well as the genetic etiology and the recognition of new diseases genes.
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6. Howes OD, Rogdaki M, Findon JL, Wichers RH, Charman T, King BH, Loth E, McAlonan GM, McCracken JT, Parr JR, Povey C, Santosh P, Wallace S, Simonoff E, Murphy DG. {{Autism spectrum disorder: Consensus guidelines on assessment, treatment and research from the British Association for Psychopharmacology}}. {J Psychopharmacol};2017 (Dec 1):269881117741766.
An expert review of the aetiology, assessment, and treatment of autism spectrum disorder, and recommendations for diagnosis, management and service provision was coordinated by the British Association for Psychopharmacology, and evidence graded. The aetiology of autism spectrum disorder involves genetic and environmental contributions, and implicates a number of brain systems, in particular the gamma-aminobutyric acid, serotonergic and glutamatergic systems. The presentation of autism spectrum disorder varies widely and co-occurring health problems (in particular epilepsy, sleep disorders, anxiety, depression, attention deficit/hyperactivity disorder and irritability) are common. We did not recommend the routine use of any pharmacological treatment for the core symptoms of autism spectrum disorder. In children, melatonin may be useful to treat sleep problems, dopamine blockers for irritability, and methylphenidate, atomoxetine and guanfacine for attention deficit/hyperactivity disorder. The evidence for use of medication in adults is limited and recommendations are largely based on extrapolations from studies in children and patients without autism spectrum disorder. We discuss the conditions for considering and evaluating a trial of medication treatment, when non-pharmacological interventions should be considered, and make recommendations on service delivery. Finally, we identify key gaps and limitations in the current evidence base and make recommendations for future research and the design of clinical trials.
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7. Hus Y. {{Issues in Identification and Assessment of Children with Autism and a Proposed Resource Toolkit for Speech-Language Pathologists}}. {Folia Phoniatr Logop};2017;69(1-2):27-37.
BACKGROUND: The prevalence of autism spectrum disorder (ASD) has increased significantly in the last decade as have treatment choices. Nonetheless, the vastly diverse autism topic includes issues related to naming, description, iden-tification, assessment, and differentiation from other neu-rodevelopmental conditions. ASD issues directly impact speech-language pathologists (SLPs) who often see these children as the second contact, after pediatric medical practitioners. Because of shared symptomology, differentiation among neurodevelopmental disorders is crucial as it impacts treatment, educational choices, and the performance trajectory of affected children. OBJECTIVES: To highlight issues in: identification and differentiation of ASD from other communication and language challenges, the prevalence differences between ASD gender phenotypes, and the insufficient consideration of cultural factors in evaluating ASD in children. A second objective was to propose a tool to assist SLPs in the management of autism in children. SUMMARY: A universal resource toolkit development project for SLP communities at large is proposed. The resource is comprised of research-based observation and screening tools for caregivers and educators, as well as parent questionnaires for portraying the children’s function in the family, cultural com-munity, and educational setting.
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8. Hyter Y, Vogindroukas I, Chelas EN, Paparizos K, Kivrakidou E, Kaloudi V. {{Differentiating Autism from Typical Development: Preliminary Findings of Greek Versions of a Pragmatic Language and Social Communication Questionnaire}}. {Folia Phoniatr Logop};2017;69(1-2):20-26.
OBJECTIVE: A social pragmatic communication disorder is one of the primary characteristics of children with autism. Although several measures of pragmatics and social communication exist, many are not comprehensive, do not examine the quality of interactions across contexts and interlocutors, and cannot be easily administered and interpreted. The aim of this article is to report on preliminary data collected using the Greek version of comprehensive social communication and pragmatic language questionnaires completed by parents and teachers interacting with young children in different contexts. METHODS: A Greek translation of the social communication and pragmatic language questionnaires was administered to parents and teachers of 31 children diagnosed with autism and of 51 typically developing children aged 3.0-6.0 years. Analysis and Results: The performance on the Greek versions of the social communication and pragmatic language questionnaires of typically developing children was compared with the performance of the children with autism using a series of independent t tests. Descriptive statistics were used to summarize participant characteristics and performances on the measure. Preliminary results showed that significant differences with moderate effect sizes were found between groups on 63% of the 30 test items. CONCLUSIONS: The performance of children on questionnaires may lead to the development of easily administered and interpretable assessments for differentiating children with pragmatics and social communication impairments, such as children with autism, from typically developing children.
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9. Jia F, Shan L, Wang B, Li H, Miao C, Xu Z, Lin CP, Saad K. {{Bench to bedside review: Possible role of vitamin D in autism spectrum disorder}}. {Psychiatry Res};2017 (Dec 6);260:360-365.
Autism spectrum disorder (ASD) is a group of dysfunctions in social interaction, communication, and behaviors. Studies have demonstrated that vitamin D deficiency during pregnancy and in individuals increased the risk of ASD. A genetic polymorphism study has pinpointed that genotype AA/A-allele of GC rs4588 in children is associated with ASD, which encodes the vitamin D binding protein. Translating the mentioned points into clinical practice, several clinical trials have demonstrated that vitamin D supplementation can improve the core symptoms in children with ASD. One paper also showed that possible prophylactic effect for the reoccurrence of ASD by vitamin D supplement during pregnancy and early childhood. Herein, this review aims to address the recent advances in this field and to clarify the possible role of vitamin D in ASD.
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10. Kamitakahara A, Wu HH, Levitt P. {{Distinct projection targets define subpopulations of mouse brainstem vagal neurons that express the autism-associated MET receptor tyrosine kinase}}. {J Comp Neurol};2017 (Dec 15);525(18):3787-3808.
Detailed anatomical tracing and mapping of the viscerotopic organization of the vagal motor nuclei has provided insight into autonomic function in health and disease. To further define specific cellular identities, we paired information based on visceral connectivity with a cell-type specific marker of a subpopulation of neurons in the dorsal motor nucleus of the vagus (DMV) and nucleus ambiguus (nAmb) that express the autism-associated MET receptor tyrosine kinase. As gastrointestinal disturbances are common in children with autism spectrum disorder (ASD), we sought to define the relationship between MET-expressing (MET+) neurons in the DMV and nAmb, and the gastrointestinal tract. Using wholemount tissue staining and clearing, or retrograde tracing in a MET(EGFP) transgenic mouse, we identify three novel subpopulations of EGFP+ vagal brainstem neurons: (a) EGFP+ neurons in the nAmb projecting to the esophagus or laryngeal muscles, (b) EGFP+ neurons in the medial DMV projecting to the stomach, and (b) EGFP+ neurons in the lateral DMV projecting to the cecum and/or proximal colon. Expression of the MET ligand, hepatocyte growth factor (HGF), by tissues innervated by vagal motor neurons during fetal development reveal potential sites of HGF-MET interaction. Furthermore, similar cellular expression patterns of MET in the brainstem of both the mouse and nonhuman primate suggests that MET expression at these sites is evolutionarily conserved. Together, the data suggest that MET+ neurons in the brainstem vagal motor nuclei are anatomically positioned to regulate distinct portions of the gastrointestinal tract, with implications for the pathophysiology of gastrointestinal comorbidities of ASD.
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11. Kornmeier J, Worner R, Riedel A, Tebartz van Elst L. {{A different view on the Necker cube-Differences in multistable perception dynamics between Asperger and non-Asperger observers}}. {PLoS One};2017;12(12):e0189197.
BACKGROUND: During observation of the Necker cube perception becomes unstable and alternates repeatedly between a from-above-perspective (« fap ») and a from-below-perspective (« fbp ») interpretation. Both interpretations are physically equally plausible, however, observers usually show an a priori top-down bias in favor of the fap interpretation. Patients with Autism spectrum disorder are known to show an altered pattern of perception with a focus on sensory details. In the present study we tested whether this altered perceptual processing affects their reversal dynamics and reduces the perceptual bias during Necker cube observation. METHODS: 19 participants with Asperger syndrome and 16 healthy controls observed a Necker cube stimulus continuously for 5 minutes and indicated perceptual reversals by key press. We compared reversal rates (number of reversals per minute) and the distributions of dwell times for the two interpretations between observer groups. RESULTS: Asperger participants showed less perceptual reversal than controls. Six Asperger participants did not perceive any reversal at all, whereas all observers from the control group perceived at least five reversals within the five minutes observation time. Further, control participants showed the typical perceptual bias with significant longer median dwell times for the fap compared to the fbp interpretation. No such perceptual bias was found in the Asperger group. DISCUSSION: The perceptual system weights the incomplete and ambiguous sensory input with memorized concepts in order to construct stable and reliable percepts. In the case of the Necker cube stimulus, two perceptual interpretations are equally compatible with the sensory information and internal fluctuations may cause perceptual alternations between them-with a slightly larger probability value for the fap interpretation (perceptual bias). Smaller reversal rates in Asperger observers may result from the dominance of bottom-up sensory input over endogenous top-down factors. The latter may also explain the absence of a fap bias.
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12. Kuhlthau KA, Bailey LC, Baer BL, Coury DL, Law JK, Murray DS, Razzaghi H, Forrest CB, Lipkin PH. {{Large Databases for Pediatric Research on Children with Autism Spectrum Disorder}}. {J Dev Behav Pediatr};2017 (Dec 11)
OBJECTIVE: This article reviews the data available in 3 large databases for use in conducting studies of children with autism spectrum disorder (ASD). METHODS: The article describes the data structure, data elements, and strengths and weaknesses of the 3 data sets. RESULTS: Each of the 3 data sets, the Interactive Autism Network (IAN), the Autism Treatment Network (ATN), and PEDSnet have large cohorts of children with ASD. IAN has strengths in patient-reported measures, ATN in clinical characterization, and PEDSnet in health care encounters and electronic medical record data. CONCLUSION: The data sets described here have potential for further studies that could help improve the care and well-being of children with ASD and their families.
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13. Li XS, Pinto-Martin JA, Thompson A, Chittams J, Kral TVE. {{Weight status, diet quality, perceived stress, and functional health of caregivers of children with autism spectrum disorder}}. {J Spec Pediatr Nurs};2017 (Dec 14)
PURPOSE: Caring for children with autism spectrum disorder (ASD) can be highly demanding and can put significant strain on caregivers. To date, little is known about the extent to which caregivers of children with ASD experience increased levels of stress which may adversely affect health outcomes. The purpose of this secondary analysis was to compare caregivers of children with ASD and caregivers of typically developing children (TDC) in weight status, diet quality, perceived stress related to the parenting role, and functional health and well-being. DESIGN AND METHODS: Caregivers of 25 children with ASD and 30 TDC completed the 2005 Block Food Frequency Questionnaire, the 36-item Short Form of the Parenting Stress Index (PSI/SF), and the Short Form Health Survey (SF-36) and had their heights and weights measured during an onsite visit. Diet quality was assessed using the Healthy Eating Index (HEI)-2010 and its dietary components and conformance to the 2010 Dietary Guidelines for Americans. RESULTS: ASD caregivers did not differ significantly from TDC caregivers in body mass index or overweight/obesity prevalence (p >/= .28), even when controlling for covariates. In univariate analyses, ASD caregivers consumed significantly fewer empty calories from solid fats, alcohol, and added sugars than TDC caregivers (p = .03), but they did not differ significantly in any other dietary outcomes including nutrient adequacy (p >/= .10) and mean total HEI scores (p = .20). ASD caregivers, when compared to TDC caregivers, reported significantly greater parenting stress for the subscales difficult child and parent-child dysfunctional interaction as well as total stress (p < .001). In addition, 56% of ASD caregivers compared with 6.7% of TDC caregivers showed clinically significant levels of stress (p < .0001); a finding which remained statistically significant when controlling for covariates. ASD and TDC caregivers did not differ significantly in any SF-36 health domains related to functional health and well-being (p >/= .10). PRACTICE IMPLICATIONS: Despite higher reported levels of stress, ASD caregivers did not differ significantly from TDC caregivers in diet- and health-related outcomes. Nurses and other health professionals should use comprehensive screening tools to assess overall caregiver stress and levels of resilience.
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14. Little LM, Dean E, Tomchek S, Dunn W. {{Sensory Processing Patterns in Autism, Attention Deficit Hyperactivity Disorder, and Typical Development}}. {Phys Occup Ther Pediatr};2017 (Dec 14):1-12.
AIMS: The purpose of this study was to examine sensory processing in children ages 3-14 years with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and typical development (TD) using the Sensory Profile 2nd Edition (Dunn, 2014). METHODS: Participants included 239 children (ASD = 77; ADHD = 78; TD = 84) matched on age and gender. Multivariate analysis of covariance was used to compare the extent to which the three grsoups differed on sensory processing patterns (i.e., sensitivity, avoiding, registration, seeking) and sensory systems (i.e., auditory, visual, touch, movement, body position, oral, conduct, attention, social). We also examined the effect of chronological age. RESULTS: Children with ASD and ADHD did not differ in sensory processing patterns which were elevated as compared to a TD group. Children with ASD showed the highest rate of oral processing differences, followed by ADHD and TD. Children with ADHD had higher visual processing scores than children with ASD and TD. Older children had lower scores for seeking, auditory, visual, movement, touch, and conduct than younger children, regardless of diagnosis. CONCLUSIONS: Findings suggest that sensory features may be an area of overlap of behaviors in ASD and ADHD, which may have implications for intervention approaches for children with these conditions.
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15. Mohan V, Kunnath SK, Philip VS, Mohan LS, Thampi N. {{Capitalizing on technology for developing communication skills in autism spectrum disorder: a single case study}}. {Disabil Rehabil Assist Technol};2017 (Dec 15):1-7.
PURPOSE: In this case study, we discuss the application of a patient-centred clinical approach that led to the use of an assisted communication platform to combat severe communicative deficit in a child with autism spectrum disorder (ASD). METHODS: Initial assessment at four years of age revealed that the patient had rudimentary communication skills, with significant sensory integration dysfunction manifested as oral, olfactory, and tactile seeking behaviours; self-stimulatory behaviour; and complete dependence on caregiver for activities of daily living. Intensive, multi-disciplinary intervention resulted in minimal improvement in communicative skills and sensory seeking over six months. Subsequently, a tailor-made picture-assisted communication training with the mother as the communication facilitator was adopted. This approach was abandoned due to the patient’s poor response and mother’s low acceptance of picture-based interaction. A preference for printed material was observed in the patient. Accordingly, further management was focused on employing a computer-based interactive platform that the patient was taught to use over the course of a few months as a part of augmentative and alternative communication (AAC) intervention program. This resulted in a remarkable improvement in the child’s skills that now allowed for a better intentional communication of his thoughts and needs. CONCLUSIONS: This study highlights the importance of revisiting conventional rehabilitation strategies for communicative deficits and tailoring them according to the patient’s needs and preferences. It also emphasises that besides excellent observation skills, clinicians must be willing to consider technology based approaches in patients responding poorly to traditional approaches in order to develop effective interventional programmes. Implication for Rehabilitation The current study highlights the importance of exploring the application of technology based intervention for building communication skills in the early stages of rehabilitation for persons with communicative deficit. It also emphasises the need for excellent observation skills among clinicians so that the peculiar interests of children with ASD may be applied in designing training programmes to overcome communication barriers. Additionally, clinicians should familiarise themselves with the latest assistive technology-based rehabilitation approaches and be willing to explore newer approaches if traditional ones fail to yield satisfactory outcomes. Use of technology-based interventions to reduce dependence among persons with disability would be beneficial, both socially and economically, in developing countries with limited resources.
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16. Okuda PMM, Klaiman C, Bradshaw J, Reid M, Cogo-Moreira H. {{Assessing Risk of Bias in Randomized Controlled Trials for Autism Spectrum Disorder}}. {Front Psychiatry};2017;8:265.
Aim: To determine construct validity and reliability indicators of the Cochrane risk of bias (RoB) tool in the context of randomized clinical trials (RCTs) for autism spectrum disorder (ASD). Methods: Confirmatory factor analysis was used to evaluate a unidimensional model consisting of 9 RoB categorical indicators evaluated across 94 RCTs addressing interventions for ASD. Results: Only five of the nine original RoB items returned good fit indices and so were retained in the analysis. Only one of this five had very high factor loadings. The remaining four indicators had more measurement error than common variance with the RoB latent factor. Together, the five indicators showed poor reliability (omega = 0.687; 95% CI: 0.613-0.761). Conclusion: Although the Cochrane model of RoB for ASD exhibited good fit indices, the majorities of the items have more residual variance than common variance and, therefore, did not adequately capture the RoB in ASD intervention trials.
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17. Paula CS, Cunha GR, Bordini D, Brunoni D, Moya AC, Bosa CA, Mari JJ, Cogo-Moreira H. {{Identifying Autism with a Brief and Low-Cost Screening Instrument-OERA: Construct Validity, Invariance Testing, and Agreement Between Judges}}. {J Autism Dev Disord};2017 (Dec 15)
Simple and low-cost observational-tools to detect symptoms of Autism Spectrum Disorder (ASD) are still necessary. The OERA is a new assessment tool to screen children eliciting observable behaviors with no substantial knowledge on ASD required. The sample was 99 children aged 3-10: 76 with ASD and 23 without ASD (11/23 had intellectual disability). The 13 remained items exhibited high interrater agreement and high reliability loaded onto a single latent trait. Such model showed excellent fit indices evaluated via confirmatory factor analysis and no item showed differential function in terms of age/sex/IQ. A cutoff of five points or higher resulted in the highest sensitivity (92.75) and specificity (90.91) percentages. OERA is a brief, stable, low-cost standardized observational-screening to identify ASD children.
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18. Petinou K, Minaidou D. {{Neurobiological Bases of Autism Spectrum Disorders and Implications for Early Intervention: A Brief Overview}}. {Folia Phoniatr Logop};2017;69(1-2):38-42.
OBJECTIVES: To better understand the pathogenesis of autism spectrum disorder (ASD) and implications for intervention, the current paper reports on research related to the neurobiological underpinnings of ASD and the implication for early intervention with a focus on the importance of joint attention and eye gaze behaviors. PARTICIPANTS AND METHODS: An overview is provided on the available research findings from the fields of social neuroscience and experimental psychology specific to brain development, brain pathology, eye gaze, and joint attention behaviors. RESULTS: The results of the review converge towards the existence of aberrant brain connections and atypical brain morphology areas, which in complex and dynamic ways hinder the prioritization of social information. Consequently, the atypical social interaction skills exhibited by infants at risk for developing ASD are traced in the malformation of respective brain connections. CONCLUSIONS: Given the importance of neurobiological findings and their mapping onto early social pragmatic skills, early intervention goals need to focus on increasing appropriate eye gaze skills and joint attention. Such goals could potentially improve intervention outcomes in terms of improving social communication skills in youngsters with ASD.
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19. Ryu J, Ha EH, Kim BN, Ha M, Kim Y, Park H, Hong YC, Kim KN. {{Associations of prenatal and early childhood mercury exposure with autistic behaviors at 5years of age: The Mothers and Children’s Environmental Health (MOCEH) study}}. {Sci Total Environ};2017 (Dec 15);605-606:251-257.
BACKGROUND: Although mercury is an established neurotoxin, only few longitudinal studies have investigated the association between prenatal and early childhood mercury exposure and autistic behaviors. METHODS: We conducted a longitudinal cohort study using an ongoing prospective birth cohort initiated in 2006, wherein blood mercury levels were measured at early and late pregnancy; in cord blood; and at 2 and 3years of age. We analyzed 458 mother-child pairs. Autistic behaviors were assessed using the Social Responsiveness Scale (SRS) at 5years of age. Both continuous SRS T-scores and T-scores dichotomized by a score of >/=60 or <60 were used as outcomes. RESULTS: The geometric mean of mercury concentrations in cord blood was 5.52mug/L. In adjusted models, a doubling of blood mercury levels at late pregnancy (beta=1.84, 95% confidence interval [CI]: 0.39, 3.29), in cord blood (beta=2.24, 95% CI: 0.22, 4.27), and at 2years (beta=2.12, 95% CI: 0.54, 3.70) and 3years (beta=2.80, 95% CI: 0.89, 4.72) of age was positively associated with the SRS T-scores. When the SRS T-scores were dichotomized, we observed positive associations with mercury levels at late pregnancy (relative risk [RR]=1.31, 95% CI: 1.08, 1.60) and in cord blood (RR=1.28, 95% CI: 1.01, 1.63). CONCLUSION: We found that blood mercury levels at late pregnancy and early childhood were associated with more autistic behaviors in children at 5years of age. Further study on the long-term effects of mercury exposure is recommended. Lien vers le texte intégral (Open Access ou abonnement)
20. Satterfield-Nash A, Kotzky K, Allen J, Bertolli J, Moore CA, Pereira IO, Pessoa A, Melo F, Santelli A, Boyle CA, Peacock G. {{Health and Development at Age 19-24 Months of 19 Children Who Were Born with Microcephaly and Laboratory Evidence of Congenital Zika Virus Infection During the 2015 Zika Virus Outbreak – Brazil, 2017}}. {MMWR Morb Mortal Wkly Rep};2017 (Dec 15);66(49):1347-1351.
In November 2015, the Brazilian Ministry of Health (MOH) declared the Zika virus outbreak a public health emergency after an increase in microcephaly cases was reported in the northeast region of the country (1). During 2015-2016, 15 states in Brazil with laboratory-confirmed Zika virus transmission reported an increase in birth prevalence of microcephaly (2.8 cases per 10,000 live births), significantly exceeding prevalence in four states without confirmed transmission (0.6 per 10,000) (2). Although children with microcephaly and laboratory evidence of Zika virus infection have been described in early infancy (3), their subsequent health and development have not been well characterized, constraining planning for the care and support of these children and their families. The Brazilian MOH, the State Health Secretariat of Paraiba, and CDC collaborated on a follow-up investigation of the health and development of children in northeastern Brazil who were reported to national surveillance with microcephaly at birth. Nineteen children with microcephaly at birth and laboratory evidence of Zika virus infection were assessed through clinical evaluations, caregiver interviews, and review of medical records. At follow-up (ages 19-24 months), most of these children had severe motor impairment, seizure disorders, hearing and vision abnormalities, and sleep difficulties. Children with microcephaly and laboratory evidence of Zika virus infection have severe functional limitations and will require specialized care from clinicians and caregivers as they age.
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21. Segal O, Kaplan D, Patael S, Kishon-Rabin L. {{Comprehension of « Narrow Focus » by Adolescents in the Autism Spectrum}}. {Folia Phoniatr Logop};2017;69(1-2):67-77.
OBJECTIVE: The study compared the performance of adolescents with autistic spectrum disorder (ASD) to that of age-matched peers with typical development (TD) and cognitive language-matched peers with TD on measures of identification and comprehension of « narrow focus. » PARTICIPANTS: Forty-nine participants, 17 autistic, 17 TD peers matched for age and sex, and 15 TD children matched for expressive vocabulary participated in the study. METHOD: The Hebrew Narrow Focus Test (HNFT) was used. The HNFT includes 3 subtests. The first subtest (A) required identification of the stressed word in the sentence based on psychoacoustic abilities alone. The second (B) and third (C) subtests required understanding the meaning of focused stress in different contexts. In subtest B, the meaning of « narrow focus » was to contrast other possibilities related to the lexical-grammatical role of the stressed word in the sentence, whereas in subtest C, the meaning was to indicate a mistake. RESULTS: ASD participants showed reduced performance compared to peers across all the subtests of the HNFT, but similar performance compared to TD children in subtests A and B and better performance on subtest C. A significant correlation was found between the Raven test for assessing nonverbal intelligence and subtests B and C of the HNFT in the group of adolescents with ASD. CONCLUSIONS: Comprehension of narrow focus in adolescents with ASD who study in a special educational system is related to their cognitive-linguistic abilities and not to the autistic condition by itself or to its severity.
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22. Sun IYI, Varanda CA, Fernandes FD. {{Stimulation of Executive Functions as Part of the Language Intervention Process in Children with Autism Spectrum Disorder}}. {Folia Phoniatr Logop};2017;69(1-2):78-83.
AIMS: Identifying effective methods for stimulating language and communication of children with autism spectrum disorder (ASD) is fundamental to the effective use of available resources to support these children. This pilot study was designed to explore the potential benefits of a program of stimulation of executive functions (SEF) on the functional aspects of language and communication through the assessment of the functional communicative profile and social-cognitive performance. METHODS: Twenty children, aged 5-12 years, with a diagnosis of ASD participated in the study. Two stimulation programs were offered over a 10- to 12-week period as part of the regular services offered to these children through a University’s speech and language therapy outpatient clinic in Sao Paulo, Brazil. Children either received SEF intervention in their home implemented by their parent/s, with close monitoring by the speech-language pathologist (SLP) (group 1), or they received SEF by the SLP during regular speech-language therapy individual sessions (group 2). RESULTS: The findings suggested that there were differences between the children’s pre- and posttest performance. Significantly different performances were observed in the areas of occupation of communication space, proportion of communicative interactivity, and social-cognitive performance. CONCLUSION: The inclusion of activities to stimulate executive function abilities in language intervention for children with ASD warrants further investigation.
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23. Van Drenth A. {{Rethinking the origins of autism: Ida Frye and the unraveling of children’s inner world in the Netherlands in the late 1930s}}. {J Hist Behav Sci};2017 (Dec 15)
Historiographies on the phenomenon of « autism » display Leo Kanner and Hans Asperger as the great pioneers. The recent controversy on who was first in « discovering » autism urges research into the question of how scientific discoveries relate to processes of academic reflection and social intervention. The Netherlands provide an interesting case in pioneering work in autism, since Dutch experts described autism in children already in the late 1930s, preceding the first publications on autism in children by Kanner and Asperger. This paper examines the Dutch origins of autism by focusing on Ida Frye’s contribution to the teamwork at the Paedological Institute in Nijmegen, which resulted in descriptions of children with autism. The theoretical aim of this paper is to underline the importance of the productive interplay between social interventions and scientific efforts concerning the complex inner world of special children.
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24. Wei Y, Silke JR, Xia X. {{Elucidating the 16S rRNA 3′ boundaries and defining optimal SD/aSD pairing in Escherichia coli and Bacillus subtilis using RNA-Seq data}}. {Sci Rep};2017 (Dec 15);7(1):17639.
Bacterial translation initiation is influenced by base pairing between the Shine-Dalgarno (SD) sequence in the 5′ UTR of mRNA and the anti-SD (aSD) sequence at the free 3′ end of the 16S rRNA (3′ TAIL) due to: 1) the SD/aSD sequence binding location and 2) SD/aSD binding affinity. In order to understand what makes an SD/aSD interaction optimal, we must define: 1) terminus of the 3′ TAIL and 2) extent of the core aSD sequence within the 3′ TAIL. Our approach to characterize these components in Escherichia coli and Bacillus subtilis involves 1) mapping the 3′ boundary of the mature 16S rRNA using high-throughput RNA sequencing (RNA-Seq), and 2) identifying the segment within the 3′ TAIL that is strongly preferred in SD/aSD pairing. Using RNA-Seq data, we resolve previous discrepancies in the reported 3′ TAIL in B. subtilis and recovered the established 3′ TAIL in E. coli. Furthermore, we extend previous studies to suggest that both highly and lowly expressed genes favor SD sequences with intermediate binding affinity, but this trend is exclusive to SD sequences that complement the core aSD sequences defined herein.
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25. Westerveld M, van Bysterveldt AK. {{The Home Literacy Environment of Preschool-Age Children with Autism or Down Syndrome}}. {Folia Phoniatr Logop};2017;69(1-2):43-53.
AIMS: This exploratory study investigated if there were differences in the home literacy environment of preschool children on the autism spectrum and preschool children with Down syndrome to determine if the home literacy environment may potentially be associated with strengths or weaknesses in children’s social communication skills. METHODS: A total of 111 parents of preschoolers with identified disabilities completed a home literacy questionnaire. RESULTS: Results indicated that both groups of parents started reading to their children at an early age and owned at least 25 children’s books. However, parents of children with Down syndrome read to their child more often, reported higher child interest in reading, and more frequently played rhyming games with their child. No group differences were found in teaching of letter names, although parents of children with autism reported a higher frequency of pointing out signs/words in the environment and reported their children knew more letter names. Group differences were also found in the relationship between parent behaviours, child interest, and children’s print-related skills. CONCLUSION: This study highlights the influence both parent behaviours and child interest may have on shared book reading practices of parents with their preschool children with disabilities.
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26. Zand DH, Bultas MW, McMillin SE, Halloran D, White T, McNamara D, Pierce KJ. {{A Pilot of a Brief Positive Parenting Program on Children Newly Diagnosed with Autism Spectrum Disorder}}. {Fam Process};2017 (Dec 14)
Disruptive behaviors can be of comparable or greater concern to parents than the core symptoms of Autism Spectrum Disorder (ASD). Provision of effective interventions to address these behaviors within the first year of initial diagnosis holds great potential for improving the child’s, parents’, and family’s functioning. We piloted a four-session, manualized, positive parenting program on 21 parents of newly diagnosed children ages 2 through 12 years using a mixed methods design. Seventy-five percent of parents completed four sessions, with 100% reporting high levels of service satisfaction. Preliminary results indicated clinically and statistically significant reductions in child maladaptive behaviors, as well as improvements in parental and family functioning. Practitioners and parents identified several potential implementation adaptations, including additional sessions to focus on ASD education and real-time parent-child interactions. Taken as a whole, these data suggest that a brief positive parenting intervention may be a feasible way to improve child, parent, and family functioning during the first year of ASD diagnosis. Findings point to the need for additional research to determine treatment efficacy and to assist with the identification of moderators and mediators of effects.
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27. Zhou V, Munson JA, Greenson J, Hou Y, Rogers S, Estes AM. {{An exploratory longitudinal study of social and language outcomes in children with autism in bilingual home environments}}. {Autism};2017 (Dec 1):1362361317743251.
Little is known about outcomes of early intervention for children with autism spectrum disorder reared in bilingual homes. There are concerns that social communication deficits among children with autism spectrum disorder may reduce the developmental benefits of early intervention for children with autism spectrum disorder raised in bilingual environments. We conducted an exploratory analysis of cross-sectional and longitudinal data from a larger study to explore associations between home language environment and language ability and social skills in response to early autism spectrum disorder intervention. Participants, aged 12-26 months when recruited, were a subset of a larger 2-year, randomized intervention trial (ClinicalTrials.gov identifier: NCT00698997). Children from bilingual homes ( n = 13) began intervention with lower gesture use but otherwise demonstrated equal baseline language and social abilities as compared with age and nonverbal IQ-matched children from monolingual homes ( n = 24). Significant language growth was exhibited by children from both language groups and there was no moderating effect of home language environment. The bilingual home group demonstrated increased gesture use over the course of intervention as compared with the monolingual home group. Preliminary data revealed no basis for concerns regarding negative impact of a bilingual home environment on language or social development in young children with autism spectrum disorder.
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28. Zhou ZC, McAdam DB, Donnelly DR. {{Endophenotypes: A conceptual link between anorexia nervosa and autism spectrum disorder}}. {Res Dev Disabil};2017 (Nov 24)
The paper, by translating the concept and the two models of endophenotype (EP), strengthens the hypothesis that there exists a linkage between anorexia nervosa (AN) and autism spectrum disorder (ASD). Specifically, the paper synthesizes empirical research that supported the idea that individuals with AN and individuals with ASD share similarities with respect to their neurocognitive EPs and temperament EPs. The paper then introduces an innovative structure to emphasize the subtle difference between neurocognitive EPs and temperament EPs in relation to AN and ASD. This structure constitutes the categorization of the shared neurocognitive EPs to the liability-index model of EP and the shared temperament EPs to the mediational model of EP. The paper argues that the shared neurocognitive EPs under the liability index model of EP are trait markers signaling the effects of genes on the phenotypes of AN and ASD; whereas, the shared temperament EPs under the mediational model of EP are state markers describing the symptomatic status of AN and ASD. The proposition of the paper suggests clinicians and researchers should target the atypical state markers (i.e., temperament EPs) shared between AN and ASD when tailoring environment-based treatments for individuals with AN who exhibit autistic behaviors and individuals with ASD who display disordered eating behaviors or anorexic symptoms.
