1. Akouchekian M, Hakim Shooshtari M, Heidary H, Zahedi Abghari F, Moeinian P. {{The causative variants of amyloidosis in the autism}}. {Int J Neurosci}. 2018: 1-14.
PURPOSE: Autism spectrum disorders (ASD) consist of a group of neurodevelopmental disorders that include autistic behavior, Asperger’s syndrome and pervasive developmental disabilities. According to the increasing observations that patients with mitochondrial disorders have symptoms associated with ASD, we have aimed to analyze the role of mitochondrial DNA (mtDNA) variation in autistic patients. MATERIAL AND METHODS: We selected children with autistic behaviors (15-60 CARS Score). The mitochondrial DNA extraction process was done by GeNet Bio DNA extraction kit. The regions of interest were amplified using independent PCR runs. After purification of PCR products, both strands were sequenced by Big Dye Termination system in a directly determined automated sequencing on an ABI 3700 capillary sequencer machine using both primers. All sequencing results were analyzed using bioinformatics’ tools sequencher software 5. RESULTS: In this study, 31 samples were examined, which 15 unique variants were detected in genes related to COXI-III. The most frequent variant (30.76%) were related to COX1 with amino acid change A–>A. The only significant pathogenic variant was C8264G, except for C8264G, all variants seemed to be homoplasmic substitution. CONCLUSION: In our study, among the variations we found, one variant what probably had an interesting association with possible amyloidosis, had been reported in patient with autism previously. It is hoped that with finding more definable genetic and biological markers, the autistic children diagnosis and treatment will be more effective.
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2. Chandroo R, Strnadova I, Cumming TM. {{A systematic review of the involvement of students with autism spectrum disorder in the transition planning process: Need for voice and empowerment}}. {Res Dev Disabil}. 2018; 83: 8-17.
BACKGROUND: Students with autism spectrum disorder (ASD) typically struggle with post-school employment, post-secondary education, and independent living outcomes. This may be due to their limited input on the goals that are set for their future during the transition planning process. AIM: The aim of this systematic review was to investigate the extent of involvement of students in their IEP transition planning meetings in published research on the topic to date. METHOD AND PROCEDURES: The authors reviewed articles published between 1994 and 2016. Searches were performed in ERIC, ProQuest Education Journals, PsycINFO, and Scopus databases, resulting in 15 articles meeting the inclusion criteria. OUTCOMES AND RESULTS: Out of the 15 articles included in this review, five were survey research articles and ten were intervention studies. The overall results of the studies revealed that students with ASD had minimal active involvement in the transition planning process. CONCLUSIONS AND IMPLICATIONS: It is essential for teachers to educate students about the transition planning process to increase their awareness of the purposes and procedures of the transition planning meeting. There is a pressing need for a more student-centred approach in transition planning to empower students and support them in becoming better self-advocates.
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3. Chen LS, Min J, Zhao S, Yeh YC, Huang TY. {{Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders}}. {Autism}. 2018: 1362361318778903.
We conducted the first needs assessment study by examining the information needs in genetic testing for autism spectrum disorders among parents of children with autism spectrum disorders in Taiwan. Parents of children with autism spectrum disorders in 236 public elementary schools with special education services were invited to complete a survey. About two-thirds of participants (65.7%) had never heard about genetic testing for autism spectrum disorders. Yet, the majority (71.4%) expressed an interest in learning about this testing. The top three topics participants identified to assist them in making informed decisions before undergoing genetic testing (for themselves, their affected children, or other family members) were testing accuracy (79.7%), genetic causes of autism spectrum disorders (79.4%), and the link between testing and treatment (79.4%). A health education brochure (47.2%) was the most desired educational approach. Our results can be utilized to develop information and counseling materials for genetic testing for autism spectrum disorders in Taiwan as well as to address the needs of parents of children with autism spectrum disorders, particularly in informed decisions-making. Moreover, to promote better communication between the providers and parents, when discussing genetic testing for autism spectrum disorders with Taiwanese parents of children with autism spectrum disorders, healthcare professionals’ priorities should be in line with the preferred topics identified in this study.
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4. Cook A, Ogden J, Winstone N. {{The impact of a school-based musical contact intervention on prosocial attitudes, emotions and behaviours: A pilot trial with autistic and neurotypical children}}. {Autism}. 2018: 1362361318787793.
Children with autism are more likely to be socially excluded than their neurotypical peers. Since the majority of children with autism attend mainstream schools, interventions are needed to improve the attitudes and behaviours of their peers. Many studies highlight the influence of contact on positive attitudes and reduced discrimination. Group music-making provides an ideal opportunity for positive contact to occur in the classroom. This study evaluated the impact of music-based contact with autistic peers on the attitudes, emotions and behaviours of neurotypical children. Changes in those with autism were also assessed. Neurotypical participants ( n = 55) aged 10-11 years took part in an 11-week music programme designed to increase social interaction, which either did or did not include contact with autistic children ( n = 10). Measures of attitudes, emotions and behaviours were assessed at baseline and follow-up. In response to a hypothetical scenario depicting social exclusion of a child with autism, neurotypical participants in the contact group showed a greater increase in prosocial emotions and a greater decrease in tendency to be a victim than those in the no-contact group. Participants with autism also showed a 19.7% decrease in victimisation. Implications of group music-making for tackling social exclusion of children with autism are discussed.
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5. Duret P, Samson F, Pinsard B, Barbeau EB, Bore A, Soulieres I, Mottron L. {{Gyrification changes are related to cognitive strengths in autism}}. {Neuroimage Clin}. 2018; 20: 415-23.
Background: Behavioral, cognitive and functional particularities in autism differ according to autism subgroups and might be associated with domain-specific cognitive strengths. It is unknown whether structural changes support this specialization. We investigated the link between cortical folding, its maturation and cognitive strengths in autism subgroups presenting verbal or visuo-spatial peaks of abilities. Methods: We measured gyrification, a structural index related to function, in 55 autistic participants with (AS-SOD, N=27) or without (AS-NoSOD, N=28) a speech onset delay (SOD) with similar symptom severity but respectively perceptual and verbal cognitive strengths, and 37 typical adolescents and young adults matched for intelligence and age. We calculated the local Gyrification Index (lGI) throughout an occipito-temporal region of interest and independently modeled age and peak of ability effects for each group. Results: Unique gyrification features in both autistic groups were detected in localized clusters. When comparing the three groups, gyrification was found lower in AS-SOD in a fusiform visual area, whereas it was higher in AS-NoSOD in a temporal language-related region. These particular areas presented age-related gyrification differences reflecting contrasting local maturation pathways in AS. As expected, peaks of ability were found in a verbal subtest for the AS-NoSOD group and in the Block Design IQ subtest for the AS-SOD group. Conclusions: Irrespective of their direction, regional gyrification differences in visual and language processing areas respectively reflect AS-SOD perceptual and AS-NoSOD language-oriented peaks. Unique regional maturation trajectories in the autistic brain may underline specific cognitive strengths, which are key variables for understanding heterogeneity in autism.
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6. Ford TC, Abu-Akel A, Crewther DP. {{The association of excitation and inhibition signaling with the relative symptom expression of autism and psychosis-proneness: Implications for psychopharmacology}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 88: 235-42.
The underlying mechanisms of autism and schizophrenia are poorly understood, partly due to a lack of dimension-specific research. Aberrant excitatory and inhibitory neurotransmission are implicated in both conditions, particularly in social dysfunction. This study investigates the extent to which the degree of autistic tendency and psychosis-proneness exclusively and interactively predict excitatory and inhibitory neurotransmitter concentrations in the superior temporal cortex (STC). In 38 adults (18 male, 18-40years), we obtained autistic tendencies (Autism-Spectrum Quotient [AQ]) and psychosis-proneness scores (Schizotypal Personality Questionnaire [PP]); magnetic resonance spectroscopy (MRS) quantified glutamate and GABA+ concentrations from the STC. Results demonstrated a negative AQ/PP interaction with glutamate concentration for the left STC voxel, where PP increased with glutamate for average AQ, while AQ decreased with glutamate for average-high PP. There was a negative AQ/PP interaction with glutamate/GABA+ ratio for the right STC, AQ increasing with glutamate/GABA+ for low-average PP, while PP decreased with glutamate/GABA+ for high AQ. Consistent with animal studies, we also reveal that overall reduced glutamate/GABA+ ratio might be precipitated by increased right hemisphere GABA+ concentrations. These findings illustrate the importance of considering the concurrent effects of autism and psychosis dimensions on understanding the pathophysiological mechanisms implicated in either condition, and can advance psychopharmacological research into better treatment options for patients.
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7. Fowlie G, Cohen N, Ming X. {{The Perturbance of Microbiome and Gut-Brain Axis in Autism Spectrum Disorders}}. {International journal of molecular sciences}. 2018; 19(8).
Gastrointestinal problems have been documented in Autism Spectrum Disorder (ASD). Studies have found that these disturbances may be associated with an altered gut microbiome in ASD. Furthermore, in ASD, these alterations are implicated in increased gut permeability, or « leaky gut », which allows bacterial metabolites to cross the gut barrier, impacting neurodevelopment during early childhood in susceptible subjects by way of gut-brain axis. In our review, we will discuss the interaction of gut microbiota and brain development in ASD and the signaling mechanisms underlying this interaction. We will also explore the potential for treatment of ASD by targeting the microbiome with probiotics. Finally, this paper will attempt to provide significance to the aggregation of the research in this area of research; providing our interpretations and assessments of future of this field.
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8. Grimaldi R, Gibson GR, Vulevic J, Giallourou N, Castro-Mejia JL, Hansen LH, Leigh Gibson E, Nielsen DS, Costabile A. {{A prebiotic intervention study in children with autism spectrum disorders (ASDs)}}. {Microbiome}. 2018; 6(1): 133.
BACKGROUND: Different dietary approaches, such as gluten and casein free diets, or the use of probiotics and prebiotics have been suggested in autistic spectrum disorders in order to reduce gastrointestinal (GI) disturbances. GI symptoms are of particular interest in this population due to prevalence and correlation with the severity of behavioural traits. Nowadays, there is lack of strong evidence about the effect of dietary interventions on these problems, particularly prebiotics. Therefore, we assessed the impact of exclusion diets and a 6-week Bimuno(R) galactooligosaccharide (B-GOS(R)) prebiotic intervention in 30 autistic children. RESULTS: The results showed that children on exclusion diets reported significantly lower scores of abdominal pain and bowel movement, as well as lower abundance of Bifidobacterium spp. and Veillonellaceae family, but higher presence of Faecalibacterium prausnitzii and Bacteroides spp. In addition, significant correlations were found between bacterial populations and faecal amino acids in this group, compared to children following an unrestricted diet. Following B-GOS(R) intervention, we observed improvements in anti-social behaviour, significant increase of Lachnospiraceae family, and significant changes in faecal and urine metabolites. CONCLUSIONS: To our knowledge, this is the first study where the effect of exclusion diets and prebiotics has been evaluated in autism, showing potential beneficial effects. A combined dietary approach resulted in significant changes in gut microbiota composition and metabolism suggesting that multiple interventions might be more relevant for the improvement of these aspects as well as psychological traits. TRIAL REGISTRATION: NCT02720900 ; registered in November 2015.
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9. Heasman B, Gillespie A. {{Neurodivergent intersubjectivity: Distinctive features of how autistic people create shared understanding}}. {Autism}. 2018: 1362361318785172.
Autistic people are neurologically divergent, yet approaches to studying autism are framed by neurotypical definitions of being social. Using the concept of intersubjectivity, which conceptualises a variety of ways of socially relating, we investigate distinctive features of how autistic people build social understanding. A total of 30 members of a charity supporting adults with autism were video-recorded during a social activity they enjoyed, namely collaborative video gaming. Mapping the coherence, affect and symmetry of each conversational turn revealed shifting patterns of intersubjectivity within each interaction. Focussing on clusters of consistent and fragmented turns led us to identify two features of neurodivergent intersubjectivity: a generous assumption of common ground that, when understood, led to rapid rapport, and, when not understood, resulted in potentially disruptive utterances; and a low demand for coordination that ameliorated many challenges associated with disruptive turns. Our findings suggest that neurodivergent intersubjectivity reveals potential for unconventional forms of social relating and that a within-interaction analysis is a viable methodology for exploring neurodivergent communication. Future research should examine the varieties of neurodivergent intersubjectivity, with associated problems and potentials, and how those forms of intersubjectivity can be enabled to flourish, particularly in autistic-to-neurotypical encounters.
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10. Holopainen A, de Veld DMJ, Hoddenbach E, Begeer S. {{Does Theory of Mind Training Enhance Empathy in Autism?}}. {J Autism Dev Disord}. 2018.
Youth with ASD often show limited or atypical empathic responsiveness. The direct effects of social skills interventions on enhancing empathic responsiveness is unknown. Data from a randomized controlled trial were used to investigate whether a Theory of Mind training improves the empathic responsiveness, measured through structured observations. The current study included a large sample (n = 135) of 8-13-year-old children with ASD. When comparing the change scores of empathic responsiveness from baseline to post-test, the intervention group performed significantly better than the waitlist group. Thus, the current findings support the use of Theory of Mind training as intervention of ASD by showing its efficacy also in improving one’s empathic responsiveness, in addition to previous knowledge regarding the improvements in empathic understanding.
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11. Keith JM, Jamieson JP, Bennetto L. {{The Importance of Adolescent Self-Report in Autism Spectrum Disorder: Integration of Questionnaire and Autonomic Measures}}. {Journal of abnormal child psychology}. 2018.
Anxiety and sensory symptoms are highly prevalent and meaningful in the daily lives of individuals with autism spectrum disorder (ASD). Despite the importance of carefully measuring, researching, and treating these symptoms, current methods in ASD seldom include self-report. This study investigated the consistency of adolescent and parent reports of anxiety and auditory sensitivity in individuals with ASD, and examined their validity via comparisons with sympathetic arousal at baseline and in response to an auditory challenge. Fifty adolescent-parent dyads (n = 26 ASD, n = 24 typically developing; 12-16 years old; IQ>80) completed parallel versions of both anxiety and auditory hypersensitivity scales, which were compared to heart rate collected at rest and during an aversive noise task. Adolescents with ASD exhibited greater anxiety and auditory hypersensitivity than their peers, based on both self and parent report. Across groups, self-report was higher than parent report. In individuals with ASD, a significant relationship was found between self-reported anxiety and autonomic arousal at rest, and between self-reported auditory sensitivity and autonomic reactivity during the noise task. These relationships were not significant for parent-report. These findings extend past work by demonstrating greater self-reported (than parent-reported) anxiety and sensory symptoms. Furthermore, the presence of significant correlations between self-reported symptoms and sympathetic arousal supports the validity of self-report in adolescents with ASD with average or above average cognitive abilities. This indicates that adolescents with ASD have a unique perspective on their internal experience, which can complement parent reports and provide a more comprehensive assessment of symptoms in research and clinical settings.
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12. Kuiper MW, Verhoeven EW, Geurts HM. {{The Dutch Glasgow Sensory Questionnaire: Psychometric properties of an autism-specific sensory sensitivity measure}}. {Autism}. 2018: 1362361318788065.
Sensory sensitivity is common in autistic people and since the Diagnostic and Statistical Manual of Mental Disorders (5th ed.), hypo- and hyper-responsiveness to sensory stimuli are part of one of the criteria domains for an autism spectrum disorder classification. For scientific research and the clinical practice, one needs reliable and valid questionnaires that measure sensory sensitivity and can distinguish between hypo- and hyper-responsiveness. We translated the Glasgow Sensory Questionnaire into Dutch. The aim was to examine the psychometric properties and the clinical use of the Dutch Glasgow Sensory Questionnaire in 78 autistic and 68 typically developing adults (18-45 years; IQ > 70). Just like the original Glasgow Sensory Questionnaire, the Dutch Glasgow Sensory Questionnaire is a reliable and valid questionnaire. The Dutch Glasgow Sensory Questionnaire had reliable hypo- and hyper-responsiveness subscales, reasonable to good modality subscales and was stable over time. Moreover, using the 95th percentile of the typically developing group as cut-off, we showed that two thirds of the autistic adults had heightened sensory sensitivity. We also showed that hypo- and hyper-responsiveness do co-exist in both autistic and typically developing adults. In sum, we conclude that the Dutch Glasgow Sensory Questionnaire is suitable to be used in scientific research as well as in the clinical practice.
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13. Kumazaki H, Okamoto M, Yoshimura Y, Ikeda T, Hasegawa C, Saito DN, Iwanaga R, Tomiyama S, An KM, Minabe Y, Kikuchi M. {{Brief Report: Odour Awareness in Young Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2018.
The elucidation of odour awareness in children with autism spectrum disorders (ASD) is important. We compared the odour awareness of young children with ASD with those of typical development (TD) children using the Children’s Olfactory Behavior in Everyday Life (COBEL) questionnaire, which is a self-report measure that mainly assesses odour awareness. Forty-five young boys (aged 5-6 years), including 20 children with ASD and 25 TD children, participated in this study. The total COBEL score of the young children with ASD was lower than that of the TD children (p < 0.01). Moreover, the total COBEL score was significantly correlated with the total VABS II score (p < 0.05). Our results improve understanding of the odour awareness in children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
14. Lee J, Hayat MJ, Spratling R, Sevcik RA, Clark PC. {{Relationship of Mothers’ Mental and Physical Health to Characteristics of Mothers and Their Children with Developmental Disabilities}}. {Nursing research}. 2018.
BACKGROUND: While empirical evidence shows that mothers of children with developmental disabilities (DDs) are at risk for poor mental and physical health, the relative contribution of maternal and child characteristics, including sleep quality, remain unclear. OBJECTIVES: The aims of this study were to compare select maternal (sleep quality, caregiving stress, and other sociodemographic variables) and child characteristics (sleep and behavior problems) between mothers with worse mental and physical health and those with better mental and physical health and to determine the contribution of selected characteristics on mental and physical health in mothers of school-age children (ages 6-12) with DDs. METHODS: This cross-sectional, correlational study included a convenience sample of 40 mothers of children with DDs. Mothers completed a set of questionnaires, including the Pittsburgh Sleep Quality Index, the Zarit Burden Interview, the Center for Epidemiologic Studies Depression Scale, and the SF-36v2 Health Survey. RESULTS: Results from bivariate logistic regression modeling showed that mothers with high depressive symptoms and worse physical health, as compared to mothers with low depressive symptoms and better physical health, reported significantly higher caregiving stress, poor sleep quality, and more chronic health conditions, and more behavior and sleep problems in children with DDs. A multivariable logistic regression model showed mother’s sleep quality was significantly associated with increased risk of high levels of depression (OR = 1.934, 95% CI = [1.106, 3.385], p = 0.021) and increased risk of worse physical health (OR = 1.920, 95% CI = [1.086, 3.393], p = 0.025). DISCUSSION: Sleep health assessment may be beneficial when providing care to families of children with developmental disabilities.
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15. Menon V. {{The Triple Network Model, Insight, and Large-Scale Brain Organization in Autism}}. {Biol Psychiatry}. 2018; 84(4): 236-8.
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16. Mesa-Gresa P, Gil-Gomez H, Lozano-Quilis JA, Gil-Gomez JA. {{Effectiveness of Virtual Reality for Children and Adolescents with Autism Spectrum Disorder: An Evidence-Based Systematic Review}}. {Sensors (Basel, Switzerland)}. 2018; 18(8).
Autism Spectrum Disorder (ASD) is a neurodevelopmental disease that is specially characterized by impairments in social communication and social skills. ASD has a high prevalence in children, affecting 1 in 160 subjects. Virtual reality (VR) has emerged as an effective tool for intervention in the health field. Different recent papers have reviewed the VR-based treatments in ASD, but they have an important limitation because they only use clinical databases and do not include important technical indexes such as the Web of Science index or the Scimago Journal & Country Rank. To our knowledge, this is the first contribution that has carried out an evidence-based systematic review including both clinical and technical databases about the effectiveness of VR-based intervention in ASD. The initial search identified a total of 450 records. After the exclusion of the papers that are not studies, duplicated articles, and the screening of the abstract and full text, 31 articles met the PICO (Population, Intervention, Comparison and Outcomes) criteria and were selected for analysis. The studies examined suggest moderate evidence about the effectiveness of VR-based treatments in ASD. VR can add many advantages to the treatment of ASD symptomatology, but it is necessary to develop consistent validations in future studies to state that VR can effectively complement the traditional treatments.
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17. Nickel K, Tebartz van Elst L, Domschke K, Glaser B, Stock F, Endres D, Maier S, Riedel A. {{Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report}}. {BMC Psychiatry}. 2018; 18(1): 248.
BACKGROUND: Mutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1A, SCN2A and SCN3A genes for autism spectrum disorder (ASD). To date, there is no previous description of a patient with comorbid ASD and Tourette syndrome showing a deletion containing SCN2A and SCN3A. CASE PRESENTATION: We present the unique complex case of a 28-year-old male patient suffering from developmental retardation and exhibiting a range of behavioral traits since birth. He received the diagnoses of ASD (in early childhood) and of Tourette syndrome (in adulthood) according to ICD-10 and DSM-5 criteria. Investigations of underlying genetic factors yielded a heterozygous microdeletion of approximately 719 kb at 2q24.3 leading to a deletion encompassing the five genes SCN2A (exon 1 to intron 14-15), SCN3A, GRB14 (exon 1 to intron 2-3), COBLL1 and SCL38A11. CONCLUSIONS: We discuss the association of SCN2A, SCN3A, GRB14, COBLL1 and SCL38A11 deletions with ASD and Tourette syndrome and possible implications for treatment.
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18. Noroozi R, Taheri M, Ghafouri-Fard S, Bidel Z, Omrani MD, Moghaddam AS, Sarabi P, Jarahi AM. {{Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder}}. {Journal of molecular neuroscience : MN}. 2018.
Several lines of evidence have suggested that the GABA receptor subunit beta3 (GABRB3) gene is a genetic contributor in the autism spectrum disorder (ASD). The aberrant expression of GABRB3 is reported in ASD patients which may be a consequence of the presence of certain genetic variants in the promoter region of the gene. The associations between single-nucleotide polymorphisms (SNPs) within this gene and ASD have been analyzed in previous studies. However, the results are conflicting. In the present study, we performed a meta-analysis on association between two SNPs located in the promoter region of GABRB3 gene (rs4906902 and rs20317) and ASD. The literature search was performed based on criteria provided by the meta-analysis of observational studies in epidemiology (MOOSE). The association between mentioned SNPs and ASD was calculated using pooled odd ratios (ORs) and 95% confidence intervals. The result of the present meta-analysis indicates that neither rs4906902 nor rs20317 are significantly associated with the risk of ASD. The underlying mechanism of the aberrant expression of GABRB3 gene in ASD patients should be investigated in other biological levels.
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19. Novin S, Broekhof E, Rieffe C. {{Bidirectional relationships between bullying, victimization and emotion experience in boys with and without autism}}. {Autism}. 2018: 1362361318787446.
Adolescents with autism are more often victims of bullying than peers without autism. Although prior work indicates that emotions play an important role, bidirectional relationships are yet unknown. This study examines the longitudinal associations of anger, fear, guilt and shame with being victimized and bullying others in adolescent boys with and without autism. On three occasions (9 months in between) 169 boys (43% with autism, 11.6 years at T1) completed self-reports. Findings show that more anger and less guilt predicted bullying behaviour, and vice versa, in both groups. In addition, more anger and fear predicted victimization. Fear was a stronger predictor in boys without autism. In turn, victimization predicted more anger, fear and shame. Especially, boys with autism reported more anger after being bullied, suggesting a tenacious vicious circle: these youngsters are likely to be angered when being bullied, which, in turn, makes them a target for bullies. Our findings provide new theoretical insights in the role emotions play in the emergence and maintenance of victimization/bullying others in boys with and without autism.
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20. Padilha IG, Nunes RH, Scortegagna FA, Pedroso JL, Marussi VH, Rodrigues Goncalves MR, Barsottini OGP, da Rocha AJ. {{MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X-Associated Tremor/Ataxia Syndrome}}. {AJNR American journal of neuroradiology}. 2018.
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21. Rafee Y, Burrell K, Cederna-Meko C. {{Lessons in early identification and treatment from a case of disabling vitamin C deficiency in a child with autism spectrum disorder}}. {International journal of psychiatry in medicine}. 2018: 91217418791443.
Background Autism spectrum disorder is a heterogenous neurodevelopmental condition accompanied by a variety of associated features. Case reports suggest one such associated feature, food selectivity, increases risk for nutritional deficiencies; however, little attention has been given to prevent and treat nutritional deficiencies in youth with autism spectrum disorder. Method Single case report. Results This single case report presents a child with autism spectrum disorder and food selectivity difficulties that resulted in severe vitamin C deficiency. Although eventually corrected, the nutritional deficiency was debilitating, required invasive interventions, and resulted in significant social/emotional and economic costs. Conclusions We review the course of treatment and highlight strategies to prevent and more effectively treat nutritional deficiencies in youth with autism spectrum disorder.
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22. Randall M, Egberts KJ, Samtani A, Scholten RJ, Hooft L, Livingstone N, Sterling-Levis K, Woolfenden S, Williams K. {{Diagnostic tests for autism spectrum disorder (ASD) in preschool children}}. {Cochrane Database Syst Rev}. 2018; 7: Cd009044.
BACKGROUND: Autism spectrum disorder (ASD) is a behaviourally diagnosed condition. It is defined by impairments in social communication or the presence of restricted or repetitive behaviours, or both. Diagnosis is made according to existing classification systems. In recent years, especially following publication of the Diagnostic and Statistical Manual of Mental Disorders – Fifth Edition (DSM-5; APA 2013), children are given the diagnosis of ASD, rather than subclassifications of the spectrum such as autistic disorder, Asperger syndrome, or pervasive developmental disorder – not otherwise specified. Tests to diagnose ASD have been developed using parent or carer interview, child observation, or a combination of both. OBJECTIVES: Primary objectives1. To identify which diagnostic tools, including updated versions, most accurately diagnose ASD in preschool children when compared with multi-disciplinary team clinical judgement.2. To identify how the best of the interview tools compare with CARS, then how CARS compares with ADOS.a. Which ASD diagnostic tool – among ADOS, ADI-R, CARS, DISCO, GARS, and 3di – has the best diagnostic test accuracy?b. Is the diagnostic test accuracy of any one test sufficient for that test to be suitable as a sole assessment tool for preschool children?c. Is there any combination of tests that, if offered in sequence, would provide suitable diagnostic test accuracy and enhance test efficiency?d. If data are available, does the combination of an interview tool with a structured observation test have better diagnostic test accuracy (i.e. fewer false-positives and fewer false-negatives) than either test alone?As only one interview tool was identified, we modified the first three aims to a single aim (Differences between protocol and review): This Review evaluated diagnostic tests in terms of sensitivity and specificity. Specificity is the most important factor for diagnosis; however, both sensitivity and specificity are of interest in this Review because there is an inherent trade-off between these two factors.Secondary objectives1. To determine whether any diagnostic test has greater diagnostic test accuracy for age-specific subgroups within the preschool age range. SEARCH METHODS: In July 2016, we searched CENTRAL, MEDLINE, Embase, PsycINFO, 10 other databases, and the reference lists of all included publications. SELECTION CRITERIA: Publications had to: 1. report diagnostic test accuracy for any of the following six included diagnostic tools: Autism Diagnostic Interview – Revised (ADI-R), Gilliam Autism Rating Scale (GARS), Diagnostic Interview for Social and Communication Disorder (DISCO), Developmental, Dimensional, and Diagnostic Interview (3di), Autism Diagnostic Observation Schedule – Generic (ADOS), and Childhood Autism Rating Scale (CARS); 2. include children of preschool age (under six years of age) suspected of having an ASD; and 3. have a multi-disciplinary assessment, or similar, as the reference standard.Eligible studies included cohort, cross-sectional, randomised test accuracy, and case-control studies. The target condition was ASD. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed all studies for inclusion and extracted data using standardised forms. A third review author settled disagreements. We assessed methodological quality using the QUADAS-2 instrument (Quality Assessment of Studies of Diagnostic Accuracy – Revised). We conducted separate univariate random-effects logistical regressions for sensitivity and specificity for CARS and ADI-R. We conducted meta-analyses of pairs of sensitivity and specificity using bivariate random-effects methods for ADOS. MAIN RESULTS: In this Review, we included 21 sets of analyses reporting different tools or cohorts of children from 13 publications, many with high risk of bias or potential conflicts of interest or a combination of both. Overall, the prevalence of ASD for children in the included analyses was 74%.For versions and modules of ADOS, there were 12 analyses with 1625 children. Sensitivity of ADOS ranged from 0.76 to 0.98, and specificity ranged from 0.20 to 1.00. The summary sensitivity was 0.94 (95% confidence interval (CI) 0.89 to 0.97), and the summary specificity was 0.80 (95% CI 0.68 to 0.88).For CARS, there were four analyses with 641 children. Sensitivity of CARS ranged from 0.66 to 0.89, and specificity ranged from 0.21 to 1.00. The summary sensitivity for CARS was 0.80 (95% CI 0.61 to 0.91), and the summary specificity was 0.88 (95% CI 0.64 to 0.96).For ADI-R, there were five analyses with 634 children. Sensitivity for ADI-R ranged from 0.19 to 0.75, and specificity ranged from 0.63 to 1.00. The summary sensitivity for the ADI-R was 0.52 (95% CI 0.32 to 0.71), and the summary specificity was 0.84 (95% CI 0.61 to 0.95).Studies that compared tests were few and too small to allow clear conclusions.In two studies that included analyses for both ADI-R and ADOS, tests scored similarly for sensitivity, but ADOS scored higher for specificity. In two studies that included analyses for ADI-R, ADOS, and CARS, ADOS had the highest sensitivity and CARS the highest specificity.In one study that explored individual and additive sensitivity and specificity of ADOS and ADI-R, combining the two tests did not increase the sensitivity nor the specificity of ADOS used alone.Performance for all tests was lower when we excluded studies at high risk of bias. AUTHORS’ CONCLUSIONS: We observed substantial variation in sensitivity and specificity of all tests, which was likely attributable to methodological differences and variations in the clinical characteristics of populations recruited.When we compared summary statistics for ADOS, CARS, and ADI-R, we found that ADOS was most sensitive. All tools performed similarly for specificity. In lower prevalence populations, the risk of falsely identifying children who do not have ASD would be higher.Now available are new versions of tools that require diagnostic test accuracy assessment, ideally in clinically relevant situations, with methods at low risk of bias and in children of varying abilities.
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23. Scott M, Milbourn B, Falkmer M, Black M, Blte S, Halladay A, Lerner M, Taylor JL, Girdler S. {{Factors impacting employment for people with autism spectrum disorder: A scoping review}}. {Autism}. 2018: 1362361318787789.
The aim of this study is to holistically synthesise the extent and range of literature relating to the employment of individuals with autism spectrum disorder. Database searches of Medline, CINAHL, PsychINFO, Scopus, ERIC, Web of Science and EMBASE were conducted. Studies describing adults with autism spectrum disorder employed in competitive, supported or sheltered employment were included. Content analysis was used to identify the strengths and abilities in the workplace of employees with autism spectrum disorder. Finally, meaningful concepts relating to employment interventions were extracted and linked to the International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder. The search identified 134 studies for inclusion with methodological quality ranging from limited to strong. Of these studies, only 36 evaluated employment interventions that were coded and linked to the International Classification of Functioning, Disability and Health, primarily focusing on modifying autism spectrum disorder characteristics for improved job performance, with little consideration of the impact of contextual factors on work participation. The International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder are a useful tool in holistically examining the employment literature for individuals with autism spectrum disorder. This review highlighted the key role that environmental factors play as barriers and facilitators in the employment of people with autism spectrum disorder and the critical need for interventions which target contextual factors if employment outcomes are to be improved.
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24. Sunamura N, Iwashita S, Enomoto K, Kadoshima T, Isono F. {{Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells}}. {Sci Rep}. 2018; 8(1): 11585.
Fragile X syndrome (FXS) is caused by transcriptional silencing of the FMR1 gene during embryonic development with the consequent loss of the encoded fragile X mental retardation protein (FMRP). The pathological mechanisms of FXS have been extensively studied using the Fmr1-knockout mouse, and the findings suggest important roles for FMRP in synaptic plasticity and proper functioning of neural networks. However, the function of FMRP during early development in the human nervous system remains to be confirmed. Here we describe human neural progenitor cells (NPCs) as a model for studying FMRP functions and FXS pathology. Transcriptome analysis of the NPCs derived from FMR1-knockout human induced pluripotent stem cells (iPSCs) showed altered expression of neural differentiation markers, particularly a marked induction of the astrocyte marker glial fibrillary acidic protein (GFAP). When induced to differentiate, FMRP-deficient neurons continued to express GFAP, and showed less spontaneous calcium bursts than the parental iPSC-derived neurons. Interestingly, the aberrant expression of GFAP and the impaired firing was corrected by treatment with the protein kinase inhibitor LX7101. These findings underscore the modulatory roles of FMRP in human neurogenesis, and further demonstrate that the defective phenotype of FXS could be reversed at least partly by small molecule kinase inhibitors.
