1. Ayub A, Naeem B, Ahmed WN, Srichand S, Aziz K, Abro B, Najam S, Murtaza D, Janjua AA, Ali S, Jehan I. {{Knowledge and Perception Regarding Autism among Primary School Teachers: A Cross-sectional Survey from Pakistan, South Asia}}. {Indian J Community Med}. 2017; 42(3): 177-9.
BACKGROUND: Early detection and intervention seem to improve development in autistic children, and teachers form an important part of their early social environment. OBJECTIVES: The objective of this study was to assess baseline knowledge and misconceptions regarding autism among school teachers and evaluate factors influencing their knowledge. MATERIALS AND METHODS: This is a cross-sectional survey enrolling primary school teachers using a self-administered questionnaire. RESULTS: Seventy-three teachers (mean age of 34 years, 66% females) responded. Gaps in awareness and knowledge were found. About 52 (71.2%) teachers identified themselves as having some knowledge about autism, with 23 (44.2%) among this group understanding autism as a neurological/mental disorder. The majority (73.1%) believe that special education is a helpful intervention. The only significant factor that influenced knowledge among teachers was attendance of behavioral classes (P = 0.01). CONCLUSION: Results suggest that teachers have an inadequate understanding of autism due to several misconceptions. This calls for increased education of teachers with regard to autism and other childhood disorders.
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2. Barnhill K, Ramirez L, Gutierrez A, Richardson W, Marti CN, Potts A, Shearer R, Schutte C, Hewitson L. {{Bone Mineral Density in Boys Diagnosed with Autism Spectrum Disorder: A Case-Control Study}}. {J Autism Dev Disord}. 2017.
This study compared bone mineral density (BMD) of the spine obtained by dual-energy X-ray absorptiometry (DEXA), nutritional status, biochemical markers, and gastrointestinal (GI) symptoms in 4-8 year old boys with Autism Spectrum Disorder (ASD) with a group of age-matched, healthy boys without ASD. Boys with ASD had significantly lower spine BMD compared to controls but this was not correlated with any biochemical markers, dietary intake of calcium and vitamin D, elimination diet status, or GI symptomology. Reduced BMD in 4-8 year old boys with ASD appears to involve factors other than nutrient intake and GI status, and requires further study.
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3. Chaste P, Roeder K, Devlin B. {{The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability}}. {Annu Rev Genomics Hum Genet}. 2017; 18: 167-87.
The etiology of autism spectrum disorder (ASD) is complex, involving both genetic and environmental contributions to individual and population-level liability. Early researchers hypothesized that ASD arises from polygenic inheritance, but later results, such as the identification of mutations in certain genes that are responsible for syndromes associated with ASD, led others to propose that de novo mutations of major effect would account for most cases. This yin and yang of monogenic causes and polygenic inheritance continues to this day. The development of genome-wide genotyping and sequencing techniques has resulted in remarkable advances in our understanding of the genetic architecture of risk for ASD. The combined research findings provide solid evidence that ASD is a complex polygenic disorder. Rare de novo and inherited variations act within the context of a common-variant genetic load, and this load accounts for the largest portion of ASD liability.
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4. Crespi BJ. {{Shared sociogenetic basis of honey bee behavior and human risk for autism}}. {Proc Natl Acad Sci U S A}. 2017.
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5. Delhey L, Kilinc EN, Yin L, Slattery J, Tippett M, Wynne R, Rose S, Kahler S, Damle S, Legido A, Goldenthal MJ, Frye RE. {{Bioenergetic variation is related to autism symptomatology}}. {Metab Brain Dis}. 2017.
Autism spectrum disorder (ASD) has been associated with mitochondrial dysfunction but few studies have examined the relationship between mitochondrial function and ASD symptoms. We measured Complex I and IV and citrate synthase activities in 76 children with ASD who were not receiving vitamin supplementation or medication. We also measured language using the Preschool Language Scales or Clinical Evaluation of Language Fundamentals, adaptive behavior using the Vineland Adaptive Behavioral Scale, social function using the Social Responsiveness Scale and behavior using Aberrant Behavior Checklist, Childhood Behavior Checklist and the Ohio Autism Clinical Impression Scale. Children with ASD demonstrated significantly greater variation in mitochondrial activity compared to controls with more than expected ASD children having enzyme activity outside of the normal range for Citrate Synthase (24%), Complex I (39%) and Complex IV (11%). Poorer adaptive skills were associated with Complex IV activity lower or higher than average and lower Complex I activity. Poorer social function and behavior was associated with relatively higher Citrate Synthase activity. Similar to previous studies we find both mitochondrial underactivity and overactivity in ASD. This study confirms an expanded variation in mitochondrial activity in ASD and demonstrates, for the first time, that such variations are related to ASD symptoms.
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6. Fossum KL, Williams L, Garon N, Bryson SE, Smith IM. {{Pivotal response treatment for preschoolers with autism spectrum disorder: Defining a predictor profile}}. {Autism Res}. 2017.
Behavioral characteristics of children with autism spectrum disorder (ASD) who respond positively to Pivotal Response Treatment (PRT) have been described previously, based on single-subject design research. The present study examined several such characteristics, as well as positive affect, as predictors of expressive language (EL) gains in a representative sample of preschoolers with ASD (n = 57) enrolled in a PRT-based community early intervention program. Children’s cognitive ability, positive affect, and levels of appropriate toy contact measured at the start of intervention each contributed significantly to the prediction of EL outcomes. Together these variables accounted for 40% of the total outcome variance. In addition, a profile of increased EL ability, positive affect and appropriate toy contact, and decreased social avoidance and stereotyped and repetitive vocalizations was associated with greater gains during intervention. Results are discussed in relation to their implications for understanding both the variable treatment response documented in children with ASD and how to tailor treatment to optimize individual benefit. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The study examined behavior of 57 preschoolers who made the greatest and least gains from 1 year of a community Pivotal Response Treatment program. Using pre-treatment videos, we saw that children who made the most progress showed more language, positive affect, and appropriate interactions with toys, also less avoidance of people and fewer repetitive vocalizations. Behavior profiles can be used to match treatment to individual children’s needs.
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7. Giacometti G, Ferreri C, Sansone A, Chatgilialoglu C, Marzetti C, Spyratou E, Georgakilas AG, Marini M, Abruzzo PM, Bolotta A, Ghezzo A, Minguzzi R, Posar A, Visconti P. {{High predictive values of RBC membrane-based diagnostics by biophotonics in an integrated approach for Autism Spectrum Disorders}}. {Sci Rep}. 2017; 7(1): 9854.
Membranes attract attention in medicine, concerning lipidome composition and fatty acid correlation with neurological diseases. Hyperspectral dark field microscopy (HDFM), a biophotonic imaging using reflectance spectra, provides accurate characterization of healthy adult RBC identifying a library of 8 spectral end-members. Here we report hyperspectral RBC imaging in children affected by Autism Spectrum Disorder (ASD) (n = 21) compared to healthy age-matched subjects (n = 20), investigating if statistically significant differences in their HDFM spectra exist, that can comprehensively map a membrane impairment involved in disease. A significant difference concerning one end-member (spectrum 4) was found (P value = 0.0021). A thorough statistical treatment evidenced: i) diagnostic performance by the receiving operators curve (ROC) analysis, with cut-offs and very high predictive values (P value = 0.0008) of spectrum 4 for identifying disease; ii) significant correlations of spectrum 4 with clinical parameters and with the RBC membrane deficit of the omega-3 docosahexaenoic acid (DHA) in ASD patients; iii) by principal component analysis, very high affinity values of spectrum 4 to the factor that combines behavioural parameters and the variable « cc » discriminating cases and controls. These results foresee the use of biophotonic methodologies in ASD diagnostic panels combining with molecular elements for a correct neuronal growth.
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8. Grzadzinski R, Lord C, Sanders SJ, Werling D, Bal VH. {{Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection}}. {Autism Res}. 2017.
Literature indicates that some children with ASD may show behavioral improvements during fever; however, little is known about the behavioral profiles of these children. This study aims to (a) investigate the subset of children who show parent-reported behavioral improvements associated with fever and (b) compare the demographic, behavioral, and genetic characteristics of this subset of children to children whose parents report no change during fever. Parents of 2,152 children from the Simons Simplex Collection provided information about whether and in which areas their child improved during fever. Children were randomly assigned into discovery or replication samples. In discovery analyses, children who reportedly improved with fever (Improve Group) were compared to those who reportedly did not improve (No Improve Group) on demographics, medical history, ASD symptoms, adaptive skills, and presence of de novo ASD-associated mutations. Significant and marginal results from discovery analyses were tested in the replication sample. Parent reports of 17% of children indicated improvements during fever across a range of domains. Discovery and replication analyses revealed that the Improve Group had significantly lower non-verbal cognitive skills (NVIQ) and language levels and more repetitive behaviors. Groups did not differ on demographic variables, parent-report of current ASD symptoms or the presence of de novo mutations. Understanding the profiles of children who improve during episodes of fever may provide insights into innovative treatments for ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study explored characteristics of children with ASD who are reported to improve during fever. Parents of 17% of children with ASD report improvements across a range of domains during fever including cognition, communication, repetitive behaviors, social interaction, and behavior. Children who are reported to improve during fever have significantly lower non-verbal cognitive skills and language levels and more repetitive behaviors. Understanding the profiles of children who improve during episodes of fever may provide insights into new treatments for ASD.
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9. Hedley D, Uljarevic M, Wilmot M, Richdale A, Dissanayake C. {{Brief Report: Social Support, Depression and Suicidal Ideation in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Adults with autism spectrum disorder (ASD) are at increased risk of suicide compared to the general population. Research has yet to identify the mechanisms underlying this increased risk. This study examined perceived social support as a potential protective factor for depressive symptoms and suicidal ideation in 76 adults with ASD. Twenty-five percent of participants were in the clinical range for depression, and 20% reported recent suicidal ideation. Social support in the form of appraisal and belonging was not associated with depression or ideation; however the perceived availability of tangible (material) support indirectly acted on ideation through depression. The findings suggest that tangible support, but not appraisal or belonging, may act as an indirect protective factor against suicidality in ASD.
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10. Herrema R, Garland D, Osborne M, Freeston M, Honey E, Rodgers J. {{Mental Wellbeing of Family Members of Autistic Adults}}. {J Autism Dev Disord}. 2017.
Family members are often the primary caregiver for autistic adults and this responsibility may impact on the carer’s wellbeing and quality of life. 109 family members of autistic adults completed an online survey assessing their wellbeing relating to their caring role for their autistic relative. Family members who were supporting an autistic relative with co-occurring mental health difficulties and who they reported as unprepared for the future, self-reported higher levels of worry, depression, anxiety and stress, and poorer quality of life. These findings emphasise the importance of support for family members of autistic adults, whether through external services to support their relative or individual mental health support for the carer.
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11. Hinnebusch AJ, Miller LE, Fein DA. {{Autism Spectrum Disorders and Low Mental Age: Diagnostic Stability and Developmental Outcomes in Early Childhood}}. {J Autism Dev Disord}. 2017.
Some children with autism spectrum disorders (ASDs) exhibit low mental age (Low-MA; i.e., cognitive functioning below 12 months). We examined diagnosis, symptom severity, and development in children with ASD-low MA (n = 25), autistic disorder (n = 111), and PDD-NOS (n = 82) at ages two and four. We predicted that some ASD-low MA children would demonstrate just intellectual impairment and not autism symptoms on follow-up, with social deficits at age two attributable to global delays. Instead, most ASD-low MA children (96%) had an ASD at follow-up, compared to children initially diagnosed with autistic disorder (86.5%) or PDD-NOS (73.2%). They showed the least developmental progress and highest symptom severity. Results support diagnosing ASDs in children functioning below a 12-month level.
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12. Lewis KE, Sharan K, Takumi T, Yadav VK. {{Skeletal Site-specific Changes in Bone Mass in a Genetic Mouse Model for Human 15q11-13 Duplication Seen in Autism}}. {Sci Rep}. 2017; 7(1): 9902.
Children suffering from autism have been reported to have low bone mineral density and increased risk for fracture, yet the cellular origin of the bone phenotype remains unknown. Here we have utilized a mouse model of autism that duplicates 6.3 Mb region of chromosome 7 (Dp/+) corresponding to a region of chromosome 15q11-13, duplication of which is recurrent in humans to characterize the bone phenotype. Paternally inherited Dp/+ (patDp/+) mice showed expected increases in the gene expression in bone, normal postnatal growth and body weight acquisition compared to the littermate controls. Four weeks-old patDp/+ mice develop a low bone mass phenotype in the appendicular but not the axial skeleton compared to the littermate controls. This low bone mass in the mutant mice was secondary to a decrease in the number of osteoblasts and bone formation rate while the osteoclasts remained relatively unaffected. Further in vitro cell culture experiments and gene expression analysis revealed a major defect in the proliferation, differentiation and mineralization abilities of patDp/+ osteoblasts while osteoclast differentiation remained unchanged compared to controls. This study therefore characterizes the structural and cellular bone phenotype in a mouse model of autism that can be further utilized to investigate therapeutic avenues to treat bone fractures in children with autism.
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13. McConachie H, Livingstone N, Morris C, Beresford B, Le Couteur A, Gringras P, Garland D, Jones G, Macdonald G, Williams K, Parr JR. {{Parents Suggest Which Indicators of Progress and Outcomes Should be Measured in Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Evaluation of interventions for children with autism spectrum disorder (ASD) is hampered by the multitude of outcomes measured and tools used. Measurement in research with young children tends to focus on core impairments in ASD. We conducted a systematic review of qualitative studies of what matters to parents. Parent advisory groups completed structured activities to explore their perceptions of the relative importance of a wide range of outcome constructs. Their highest ranked outcomes impacted directly on everyday life and functioning (anxiety, distress, hypersensitivity, sleep problems, happiness, relationships with brothers and sisters, and parent stress). Collaboration between professionals, researchers and parents/carers is required to determine an agreed core set of outcomes to use across evaluation research.
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14. Paval D, Rad F, Rusu R, Niculae AS, Colosi HA, Dobrescu I, Dronca E. {{Low Retinal Dehydrogenase 1 (RALDH1) Level in Prepubertal Boys with Autism Spectrum Disorder: A Possible Link to Dopamine Dysfunction?}}. {Clin Psychopharmacol Neurosci}. 2017; 15(3): 229-36.
Objective: Retinal dehydrogenase 1 (RALDH1) is a cytosolic enzyme which acts both as a source of retinoic acid (RA) and as a detoxification enzyme. RALDH1 has key functions in the midbrain dopaminergic system, which influences motivation, cognition, and social behavior. Since dopamine has been increasingly linked to autism spectrum disorder (ASD), we asked whether RALDH1 could contribute to the autistic phenotype. Therefore, we investigated for the first time the levels of RALDH1 in autistic patients. To further assess the detoxification function of RALDH1, we also explored 4-hydroxynonenal protein adducts (4-HNE PAs) and reduced glutathione (GSH) levels. Moreover, considering the effect of testosterone on RALDH1 expression, we measured the second to fourth digit ratio (2D:4D ratio) for both hands, which reflects exposure to prenatal testosterone. Methods: Male patients with ASD (n=18; age, 62.9+/-4.3 months) and healthy controls (n=13; age, 78.1+/-4.9 months) were examined. Erythrocyte RALDH1, serum 4-HNE PAs and erythrocyte GSH levels were measured using colorimetric assays, and digit lengths were measured using digital calipers. Results: We found significantly lower (-42.9%) RALDH1 levels in autistic patients as compared to controls (p=0.032). However, there was no difference in 4-HNE PAs levels (p=0.368), GSH levels (p=0.586), or 2D:4D ratios (p=0.246 in the left hand, p=0.584 in the right hand) between healthy controls and autistic subjects. Conclusion: We concluded that a subset of autistic patients had a low RALDH1 level. These results suggest that low RALDH1 levels could contribute to the autistic phenotype by reflecting a dopaminergic dysfunction.
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15. Rashid M, Hodgetts S, Nicholas D. {{Building Employer Capacity to Support Meaningful Employment for Persons with Developmental Disabilities: A Grounded Theory Study of Employment Support Perspectives}}. {J Autism Dev Disord}. 2017.
To explore strategies to build employer capacity to support people with DD in meaningful employment from perspective of employment support workers. A grounded theory study was conducted with 34 employment support individuals. A theoretical sampling approach was used to identify and recruit participants from multiple sites in Ontario and Alberta. Three main themes, with seven sub-themes, emerged: (1) experiences of supporting employment finding for people with DD, (2) institutional influences on employee experiences, and (3) attitudes, assumptions and stigma. Several recommendations related to building employer capacity were offered. Our findings provide insight on specific elements and strategies that can support building employer capacity for persons with DD.
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16. Thiemann-Bourque KS, McGuff S, Goldstein H. {{Training Peer Partners to Use a Speech-Generating Device With Classmates With Autism Spectrum Disorder: Exploring Communication Outcomes Across Preschool Contexts}}. {J Speech Lang Hear Res}. 2017: 1-15.
Purpose: This study examined effects of a peer-mediated intervention that provided training on the use of a speech-generating device for preschoolers with severe autism spectrum disorder (ASD) and peer partners. Method: Effects were examined using a multiple probe design across 3 children with ASD and limited to no verbal skills. Three peers without disabilities were taught to Stay, Play, and Talk using a GoTalk 4+ (Attainment Company) and were then paired up with a classmate with ASD in classroom social activities. Measures included rates of communication acts, communication mode and function, reciprocity, and engagement with peers. Results: Following peer training, intervention effects were replicated across 3 peers, who all demonstrated an increased level and upward trend in communication acts to their classmates with ASD. Outcomes also revealed moderate intervention effects and increased levels of peer-directed communication for 3 children with ASD in classroom centers. Additional analyses revealed higher rates of communication in the added context of preferred toys and snack. The children with ASD also demonstrated improved communication reciprocity and peer engagement. Conclusions: Results provide preliminary evidence on the benefits of combining peer-mediated and speech-generating device interventions to improve children’s communication. Furthermore, it appears that preferred contexts are likely to facilitate greater communication and social engagement with peers.
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17. Watson LR, Crais ER, Baranek GT, Turner-Brown L, Sideris J, Wakeford L, Kinard J, Reznick JS, Martin KL, Nowell SW. {{Parent-Mediated Intervention for One-Year-Olds Screened as At-Risk for Autism Spectrum Disorder: A Randomized Controlled Trial}}. {J Autism Dev Disord}. 2017.
Theoretically, interventions initiated with at-risk infants prior to the point in time a definitive autism spectrum disorder (ASD) diagnosis can be made will improve outcomes. Pursuing this idea, we tested the efficacy of a parent-mediated early intervention called Adapted Responsive Teaching (ART) via a randomized controlled trial with 87 one-year-olds identified by community screening with the First Year Inventory as at-risk of later ASD diagnoses. We found minimal evidence for main effects of ART on child outcomes. However, ART group parents showed significantly greater increases in responsiveness to their infants than control group parents. Further, significant indirect (mediation) effects of assignment group on multiple child outcomes through changes in parent responsiveness supported our theory of change.
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18. Yingjun X, Haiming Y, Mingbang W, Liangying Z, Jiaxiu Z, Bing S, Qibin Y, Xiaofang S. {{Copy number variations independently induce autism spectrum disorder}}. {Biosci Rep}. 2017; 37(4).
The examination of copy number variation (CNV) is critical to understand the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs. We further compared the clinical phenotypes of the genes in the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER) database with these overlapping genes. Using vast, readily available databases with previously reported clinically relevant CNVs from human populations, the genes were evaluated using Enrichment Analysis and GO Slim Classification. By using the Ploysearch2 software, we identified the interaction relationship between significant genes and known ASD genes. A total of 29 CNVs, overlapping with 520 genes, including 315 OMIM genes, were identified. Additionally, myocyte enhancer factor 2 family (MEF2C) with two cases of CNV overlapping were also identified. Enrichment analysis showed that the 520 genes are most likely to be related to membrane components with protein-binding functions involved in metabolic processes. In the interaction network of those genes, the known ASD genes are mostly at the core position and the significant genes found in our samples are closely related to the known ASD genes. CNVs should be an independent factor to induce autism. With the strategy of our study, we could find the ASDs candidate genes by CNV data and review certain pathogenesis of this disorder. Those CNVs were associated with ASD and they may contribute to ASD by affecting the ASD-related genes.
