1. Amaral DG, Li D, Libero L, Solomon M, Van de Water J, Mastergeorge A, Naigles L, Rogers S, Wu Nordahl C. {{In pursuit of neurophenotypes: The consequences of having autism and a big brain}}. {Autism Res};2017 (Feb 27)
A consensus has emerged that despite common core features, autism spectrum disorder (ASD) has multiple etiologies and various genetic and biological characteristics. The fact that there are likely to be subtypes of ASD has complicated attempts to develop effective therapies. The UC Davis MIND Institute Autism Phenome Project is a longitudinal, multidisciplinary analysis of children with autism and age-matched typically developing controls; nearly 400 families are participating in this study. The overarching goal is to gather sufficient biological, medical, and behavioral data to allow definition of clinically meaningful subtypes of ASD. One reasonable hypothesis is that different subtypes of autism will demonstrate different patterns of altered brain organization or development i.e., different neurophenotypes. In this Commentary, we discuss one neurophenotype that is defined by megalencephaly, or having brain size that is large and disproportionate to body size. We have found that 15% of the boys with autism demonstrate this neurophenotype, though it is far less common in girls. We review behavioral and medical characteristics of the large-brained group of boys with autism in comparison to those with typically sized brains. While brain size in typically developing individuals is positively correlated with cognitive function, the children with autism and larger brains have more severe disabilities and poorer prognosis. This research indicates that phenotyping in autism, like genotyping, requires a very substantial cohort of subjects. Moreover, since brain and behavior relationships may emerge at different times during development, this effort highlights the need for longitudinal analyses to carry out meaningful phenotyping. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Armstrong R, Whitehouse AJ, Scott JG, Copland DA, McMahon KL, Fleming S, Arnott W. {{A Relationship Between Early Language Skills and Adult Autistic-Like Traits: Evidence from a Longitudinal Population-Based Study}}. {J Autism Dev Disord};2017 (Feb 27)
The current study examined the relationship between early language ability and autistic-like traits in adulthood, utilising data from 644 participants from a longitudinal study of the general population. Language performance at 2 years was measured with the Language Development Survey (LDS), and at 20 years the participants completed the Autism-Spectrum Quotient (AQ). Vocabulary size at 2 years was negatively associated with Total AQ score, as well as scores on the Communication, and Social Skills subscales. Adults who had been late talkers were also more likely to have ‘high’ scores on the Communication subscale. This is the first study to show an association between early language ability and autistic-like traits in adulthood.
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3. Bauminger-Zviely N, Golan-Itshaky A, Tubul-Lavy G. {{Speech Acts During Friends’ and Non-friends’ Spontaneous Conversations in Preschool Dyads with High-Functioning Autism Spectrum Disorder versus Typical Development}}. {J Autism Dev Disord};2017 (Feb 25)
In this study, we videotaped two 10-min. free-play interactions and coded speech acts (SAs) in peer talk of 51 preschoolers (21 ASD, 30 typical), interacting with friend versus non-friend partners. Groups were matched for maternal education, IQ (verbal/nonverbal), and CA. We compared SAs by group (ASD/typical), by partner’s friendship status (friend/non-friend), and by partner’s disability status. Main results yielded a higher amount and diversity of SAs in the typical than the ASD group (mainly in assertive acts, organizational devices, object-dubbing, and pretend-play); yet, those categories, among others, showed better performance with friends versus non-friends. Overall, a more nuanced perception of the pragmatic deficit in ASD should be adopted, highlighting friendship as an important context for children’s development of SAs.
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4. Bhandary S, Hari N. {{Salivary biomarker levels and oral health status of children with autistic spectrum disorders: a comparative study}}. {Eur Arch Paediatr Dent};2017 (Feb 24)
AIM: To evaluate the oral health status, salivary flow rate, pH and buffering capacity in children with autistic spectrum disorders (ASD) in comparison to their healthy siblings. METHODS: A total of 30 subjects with ASD and 30 normal healthy siblings between the ages of 6-12 years of both genders attending various special schools and hospitals of Mangalore, India were recruited. Estimation of salivary pH, flow rate and buffering capacity were performed and oral health status was assessed using the WHO oral assessment form for children (World Health Organization in Oral health surveys: basic methods, World Health Organization, Geneva, 2013). The oral hygiene of the subjects was assessed using the oral hygiene index-simplified. Dental erosive lesions, presence of mucosal lesions and dental trauma were recorded for both the study and the control groups. RESULTS: It was observed that salivary pH and buffering capacity were lower in children with ASD than their healthy siblings, the dental caries incidence was higher in ASD children when compared to their healthy siblings and oral hygiene was fair with gingival bleeding in children with ASD. CONCLUSIONS: This study clearly indicates a need for better home care measures, parent, caregiver and institutional education on the importance of oral well-being among children with ASD.
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5. Bonnet-Brilhault F. {{L’autisme : un trouble neuro-développemental précoce.}}. {Arch Pediatr};2017 (Feb 27)
With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i.e., socio-emotional, language, sensori-motor, executive functioning). These disorders are expressed early in life with an age of onset around 18 months. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. The clinical picture is characterized by impairments in social interaction and communication and the presence of restrictive and repetitive behaviors (DSM-5, ICD-10). However, in addition to these two main dimensions there is significant comorbidity between ASD and other neurodevelopmental disorders such as attention deficit hyperactivity disorder or with genetic and medical conditions. One of the diagnostic features of ASD is its early emergence: symptoms must begin in early childhood for a diagnosis to be given. Due to brain plasticity, early interventions are essential to facilitate clinical improvement. Therefore, general practitioners and pediatricians are on the front line to detect early signs of ASD and to guide both medical explorations and early rehabilitation.
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6. Brenman NF, Hiddinga A, Wright B. {{Intersecting Cultures in Deaf Mental Health: An Ethnographic Study of NHS Professionals Diagnosing Autism in D/deaf Children}}. {Cult Med Psychiatry};2017 (Feb 27)
Autism assessments for children who are deaf are particularly complex for a number of reasons, including overlapping cultural and clinical factors. We capture this in an ethnographic study of National Health Service child and adolescent mental health services in the United Kingdom, drawing on theoretical perspectives from transcultural psychiatry, which help to understand these services as a cultural system. Our objective was to analyse how mental health services interact with Deaf culture, as a source of cultural-linguistic identity. We ground the study in the practices and perceptions of 16 professionals, who have conducted autism assessments for deaf children aged 0-18. We adopt a framework of intersectionality to capture the multiple, mutually enforcing factors involved in this diagnostic process. We observed that professionals working in specialist Deaf services, or with experience working with the Deaf community, had intersectional understandings of assessments: the ways in which cultural, linguistic, sensory, and social factors work together to produce diagnoses. Working with a diagnostic system that focuses heavily on ‘norms’ based on populations from a hearing culture was a key source of frustration for professionals. We conclude that recognising the intersectionality of mental health and Deaf culture helps professionals provide sensitive diagnoses that acknowledge the multiplicity of D/deaf experiences.
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7. Cowan RJ, Abel L, Candel L. {{A Meta-Analysis of Single-Subject Research on Behavioral Momentum to Enhance Success in Students with Autism}}. {J Autism Dev Disord};2017 (Feb 24)
We conducted a meta-analysis of single-subject research studies investigating the effectiveness of antecedent strategies grounded in behavioral momentum for improving compliance and on-task performance for students with autism. First, we assessed the research rigor of those studies meeting our inclusionary criteria. Next, in order to apply a universal metric to help determine the effectiveness of this category of antecedent strategies investigated via single-subject research methods, we calculated effect sizes via omnibus improvement rate differences (IRDs). Outcomes provide additional support for behavioral momentum, especially interventions incorporating the high-probability command sequence. Implications for research and practice are discussed, including the consideration of how single-subject research is systematically reviewed to assess the rigor of studies and assist in determining overall intervention effectiveness .
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8. Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gerard D, des Portes V. {{Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant}}. {Psychiatr Genet};2017 (Feb 27)
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out. Both patients fulfilled the Pervasive Developmental Disorder criteria on Autism Diagnostic Observation Schedule and Asperger syndrome criteria on Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV). One patient developed early-onset schizophrenia (DSM-IV criteria) with two acute psychotic episodes, the latest one following corticosteroids and sodium valproate intake, with major hyperammonemia. A novel MECP2 gene transversion c.491 G>T [p.(Ser164Ile)] was found in both twins. Pathogenicity of this variant was considered on the basis of strong clinical and molecular data. The underlying molecular basis of neuropsychiatric disorders may have important consequences on genetic counseling and therapeutic strategies.
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9. Ford TC, Woods W, Crewther DP. {{Mismatch field latency, but not power, may mark a shared autistic and schizotypal trait phenotype}}. {Int J Psychophysiol};2017 (Feb 21)
The auditory mismatch negativity (MMN), a preattentive processing potential, and its magnetic counterpart (MMF) are consistently reported as reduced in schizophrenia and autism spectrum disorders. This study investigates whether MMF characteristics differ between subclinically high and low scorers on the recently discovered shared autism and schizophrenia phenotype, Social Disorganisation. A total of 18 low (10 female) and 19 high (9 female) Social Disorganisation scorers underwent magnetoencephalography (MEG) during a MMF paradigm of 50ms standard (1000Hz, 85%) and 100ms duration deviant tones. MMF was measured from the strongest active magnetometer over the right and left hemispheres (consistent across groups) after 100ms. No differences in MMF power were found, however there was a significant delay in the MMF peak (p= 0.007). The P3am (following the MMF) was significantly reduced across both hemispheres for the high Social Disorganisation group (p= 0.025), there were no specific hemispheric differences in P3am power or latency. Right MMF peak latency increased with higher scores on the schizotypal subscales Odd Speech, Odd Behaviour and Constricted Affect. Findings suggest that MMF peak latency delay marks a convergence of the autism and schizophrenia spectra at a subclinical. These findings have significant implications for future research methodology, as well as clinical practice.
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10. Ghanouni P, Memari AH, Gharibzadeh S, Eghlidi J, Moshayedi P. {{Effect of Social Stimuli on Postural Responses in Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 24)
This study was aimed to investigate the effects of social versus non-social stimuli on postural responses in 21 boys with autism spectrum disorder (ASD) (mean age of 11.6 +/- 1.5) compared with 30 typically developing (TD) boys (mean age of 11.7 +/- 1.8). Postural control of children was examined while they were standing on a force plate and viewing images of an object, male face, or female face in sequence. Each image was shown in two trials and each trial lasted for 20 s. Results indicated a significant interaction between group and task (p < 0.05), meaning that children with ASD but not TD children showed an increased postural sway during face tasks than during object task. Furthermore children with higher autism severity compared to those with lower severity showed an increased change in response to social stimuli (p < 0.01). It seems that the postural control of children with ASD was more affected by the social stimuli than TD children. Lien vers le texte intégral (Open Access ou abonnement)
11. Gray PH. {{M-CHAT autism screening may be inaccurate among toddlers born very preterm}}. {J Pediatr};2017 (Mar);182:401-404.
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12. Griffiths DL, Farrell LJ, Waters AM, White SW. {{ASD Traits Among Youth with Obsessive-Compulsive Disorder}}. {Child Psychiatry Hum Dev};2017 (Feb 24)
Research has shown high rates of comorbid psychiatric disorders among samples of youth with obsessive-compulsive disorder (OCD) (Farrell et al., Psychiatry Res 199(2):115-123, 2012; Lewin et al., Psychiatry Res 178(2):317-322, 2010; POTS Team, J Am Med Assoc 292(16):1969-1976, 2004). Autism and autistic traits co-occur at high rates within clinical samples of youth with OCD (Ivarsson and Melin in J Anxiety Disord 22(6):969-978, 2008; Stewart et al. in Child Psychiatry Hum Dev 1-9, 2016). This study extends the literature by examining the relationship between ASD traits, family accommodation, and functional impairment in a sample of youth with OCD across a wide age range (n = 80; aged 7-17 years). Results indicated that autistic traits, as measured by the social responsiveness scale (SRS), were elevated in 32.5% of youth (based on a T-score of 66T and above) relative to typically developing youth, as well as youth with non-autism-related psychiatric disorders (Constantino and Gruber in Social responsiveness scale, Western Psychogical Services, Torrance, 2012). Furthermore, 27.5% of youth scored within a moderate range (66T-75T) and 5% of youth scored within a severe range (76T or higher) on the SRS, typical of children with ASD (Constantino and Gruber in Social responsiveness scale, Western Psychogical Services, Torrance, 2012). Additionally, ASD traits were associated with greater functional impairment above OCD severity. Furthermore, family accommodation mediated the relationship between ASD traits and functional impairment. Implications of these findings are discussed in the context of clinical assessment and direction for further research.
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13. Hellmer K, Nystrom P. {{Infant acetylcholine, dopamine, and melatonin dysregulation: Neonatal biomarkers and causal factors for ASD and ADHD phenotypes}}. {Med Hypotheses};2017 (Mar);100:64-66.
Autism spectrum disorders (ASD) and ADHD are common neurodevelopmental disorders that benefit from early intervention but currently suffer from late detection and diagnosis: neurochemical dysregulations are extant already at birth but clinical phenotypes are not distinguishable until preschool age or later. The vast heterogeneity between subjects’ phenotypes relates to interaction between multiple unknown factors, making research on factor causality insurmountable. To unlock this situation we pose the hypothesis that atypical pupillary light responses from rods, cones, and the recently discovered ipRGC system reflect early acetylcholine, melatonin, and dopamine dysregulation that are sufficient but not necessary factors for developing ASD and/or ADHD disorders. Current technology allows non-invasive cost-efficient assessment already from the first postnatal month. The benefits of the current proposal are: identification of clinical subgroups based on cause rather than phenotypes; facilitation of research on other causal factors; neonatal prediction of later diagnoses; and guidance for targeted therapeutical intervention.
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14. Joyce C, Honey E, Leekam SR, Barrett SL, Rodgers J. {{Anxiety, Intolerance of Uncertainty and Restricted and Repetitive Behaviour: Insights Directly from Young People with ASD}}. {J Autism Dev Disord};2017 (Feb 25)
In order to investigate the experience of anxiety and restricted and repetitive behaviours (RRB) in young people with ASD, 19 families with young people with ASD aged between 13 and 20 years completed questionnaire measures of RRB, anxiety, and intolerance of uncertainty. Ten young people also completed a novel semi-structured interview exploring an individualised example of an RRB. Findings demonstrated that young people with ASD can self-report and show insight in to their RRB, and replicated previous findings based on parent report showing a significant positive relationship between RRB and anxiety. This is the first evidence of young person self-report using both quantitative and qualitative data and indicates a range of reasons why young people may engage in RRB.
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15. Karp EA, Ibanez LV, Warren Z, Stone WL. {{Brief Report: What Drives Parental Concerns About Their 18-Month-Olds at Familial Risk for Autism Spectrum Disorder?}}. {J Autism Dev Disord};2017 (Feb 24)
Parent-reported developmental concerns can be a first step toward further screening and intervention for children at risk for ASD. However, little is known about the extent to which parental well-being and child behavior contribute to parental concerns, especially in families who already have one child with ASD. This study included 54 parents and their 18-month-old high-risk toddlers to examine the extent to which parents’ well-being (i.e., parenting stress and self-efficacy), and children’s behavior (i.e., expressive language and social communication) contribute to parents’ concerns regarding their toddler’s development. Results revealed that parental concerns were predicted by their own well-being as well as their toddler’s expressive language, highlighting the importance of addressing the needs of both parent and child in intervention settings.
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16. Kofuji T, Hayashi Y, Fujiwara T, Sanada M, Tamaru M, Akagawa K. {{A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice}}. {Neurosci Lett};2017 (Feb 22);644:5-9.
Autism spectrum disorder (ASD) is highly heritable and encompasses a various set of neuropsychiatric disorders with a wide-ranging presentation. HPC-1/syntaxin1A (STX1A) encodes a neuronal plasma membrane protein that regulates the secretion of neurotransmitters and neuromodulators. STX1A gene ablated mice (null and heterozygote mutant) exhibit abnormal behavioral profiles similar to human autistic symptoms, accompanied by reduction of monoamine secretion. To determine whether copy number variation of STX1A gene and the change of its expression correlate with ASD as in STX1A gene ablated mice, we performed copy number assay and real-time quantitative RT-PCR using blood or saliva samples from ASD patients. We found that some ASD patients were haploid for the STX1A gene similar to STX1A heterozygote mutant mice. However, copy number of STX1A gene was normal in the parents and siblings of ASD patients with STX1A gene haploidy. In ASD patients with gene haploidy, STX1A mRNA expression was reduced to about half of their parents. Thus, a part of ASD patients had haploidy of STX1A gene and lower STX1A gene expression.
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17. Masi A, Glozier N, Dale R, Guastella AJ. {{The Immune System, Cytokines, and Biomarkers in Autism Spectrum Disorder}}. {Neurosci Bull};2017 (Feb 25)
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental condition characterized by variable impairments in communication and social interaction as well as restricted interests and repetitive behaviors. Heterogeneity of presentation is a hallmark. Investigations of immune system problems in ASD, including aberrations in cytokine profiles and signaling, have been increasing in recent times and are the subject of ongoing interest. With the aim of establishing whether cytokines have utility as potential biomarkers that may define a subgroup of ASD, or function as an objective measure of response to treatment, this review summarizes the role of the immune system, discusses the relationship between the immune system, the brain, and behavior, and presents previously-identified immune system abnormalities in ASD, specifically addressing the role of cytokines in these aberrations. The roles and identification of biomarkers are also addressed, particularly with respect to cytokine profiles in ASD.
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18. Sulek R, Trembath D, Paynter J, Keen D, Simpson K. {{Inconsistent staffing and its impact on service delivery in ASD early-intervention}}. {Res Dev Disabil};2017 (Feb 27);63:18-27.
BACKGROUND: Inconsistent staffing (high turnover, casual workforce) is problematic in organisations, with the potential to impact both staff and services provided. Research has primarily focused on the impacts of inconsistent staffing in child welfare and community services with little evidence surrounding their ability to impact the outcomes for children with Autism Spectrum Disorders attending early-intervention services. AIM: The aim of this study was to explore staff views regarding the impact of staff turnover on the delivery of group based early intervention for children with ASD. METHODS AND PROCEDURES: We conducted five focus groups involving 29 professional (e.g. teachers, behaviour therapists), para-professional (e.g. child care workers), and managerial staff to explore their views. Audio recordings were transcribed verbatim for use in thematic analysis. OUTCOMES AND RESULTS: Two central themes, comprising five categories emerged to encompass participants’ views. « Impacts on Staff » accounted for the challenges existing staff felt when working with new and untrained staff in the centre. Participants also expressed concerns for the « Impacts on Service Delivery » that resulted from dynamic staffing, affecting fidelity of interventions and the program itself. CONCLUSIONS AND IMPLICATIONS: The findings suggest that lacking a consistent staffing structure is problematic when attempting to provide high quality early intervention services to children with ASD and suggest that future research should investigate the extent of inconsistent staffing, impacts of inconsistent staffing on providing intervention, and develop a range of tools to help measure these effects.
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19. Wang S, Deng H, You C, Chen K, Li J, Tang C, Ceng C, Zou Y, Zou X. {{Sex Differences in Diagnosis and Clinical Phenotypes of Chinese Children with Autism Spectrum Disorder}}. {Neurosci Bull};2017 (Feb 25)
The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder (ASD) in China’s mainland. Children diagnosed with ASD (n = 1064, 228 females) were retrospectively included in the analysis. All children were assessed using the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The results showed that girls scored significantly higher in ADI-R socio-emotional reciprocity than boys, and also scored lower in ADI-R and ADOS restricted and repetitive behaviors (RRBs). Meanwhile, the proportions of girls who satisfied the diagnostic cut-off scores in the ADI-R RRBs domain were lower than in boys (P < 0.05). Our results indicated that girls with ASD show greater socio-emotional reciprocity than boys. Girls also tended to show fewer RRBs than boys, and the type of RRBs in girls differ from those in boys. The ADI-R was found to be less sensitive in girls, particularly for assessment in the RRBs domain. Lien vers le texte intégral (Open Access ou abonnement)
20. Zhou H, Zhang L, Luo X, Wu L, Zou X, Xia K, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y. {{Modifying the Autism Spectrum Rating Scale (6-18 years) to a Chinese Context: An Exploratory Factor Analysis}}. {Neurosci Bull};2017 (Feb 25)
The purpose of this study was to explore the psychometric properties of the Chinese version of the autism spectrum rating scale (ASRS). We recruited 1,625 community-based children and 211 autism spectrum disorder (ASD) cases from 4 sites, and the parents of all participants completed the Chinese version of the ASRS. A robust weighted least squares means and variance adjusted estimator was used for exploratory factor analysis. The 3-factor structure included 59 items suitable for the current sample. The item reliability for the modified Chinese version of the ASRS (MC-ASRS) was excellent. Moreover, with 60 as the cut-off point, receiver operating characteristic analysis showed that the MC-ASRS had excellent discriminate validity, comparable to that of the unmodified Chinese version (UC-ASRS), with area under the curve values of 0.952 (95% CI: 0.936-0.967) and 0.948 (95% CI: 0.930-0.965), respectively. Meanwhile, the confirm factor analysis revealed that MC-ASRS had a better construct validity than UC-ASRS based on the above factor solution in another children sample. In conclusion, the MC-ASRS shows better efficacy in epidemiological screening for ASD in Chinese children.
