1. {{[Defeat of gastrointestinal tract with autism]}}. {Lik Sprava}. 2014; (11): 89-93.
In the article the peculiarities of the gastrointestinal tract in children with autism. Presents the algorithm for evaluation of children with autism in KhSMGC, the statistical data about the frequency of lesions of the gastrointestinal tract. The main directions of correction of digestive disorders and its results.
2. Abraham SS, Taragin B, Djukic A. {{Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5}}. {Dysphagia}. 2014.
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects’ rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson’s disease. Subjects’ tongue retroflexions were classified as provisionally unique to RTT. VFSS pre-planning, fluoroscopic procedures, and therapeutic strategies specific to this specialty population were derived.
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3. Amatachaya A, Auvichayapat N, Patjanasoontorn N, Suphakunpinyo C, Ngernyam N, Aree-Uea B, Keeratitanont K, Auvichayapat P. {{Effect of anodal transcranial direct current stimulation on autism: a randomized double-blind crossover trial}}. {Behav Neurol}. 2014; 2014: 173073.
The aim of this study was to evaluate the Childhood Autism Rating Scale (CARS), Autism Treatment Evaluation Checklist (ATEC), and Children’s Global Assessment Scale (CGAS) after anodal transcranial direct current stimulation (tDCS) in individuals with autism. Twenty patients with autism received 5 consecutive days of both sham and active tDCS stimulation (1 mA) in a randomized double-blind crossover trial over the left dorsolateral prefrontal cortex (F3) for 20 minutes in different orders. Measures of CARS, ATEC, and CGAS were administered before treatment and at 7 days posttreatment. The result showed statistical decrease in CARS score (P < 0.001). ATEC total was decreased from 67.25 to 58 (P < 0.001). CGAS was increased at 7 days posttreatment (P = 0.042). Our study suggests that anodal tDCS over the F3 may be a useful clinical tool in autism.
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4. Blomqvist M, Dahllof G, Bejerot S. {{Experiences of dental care and dental anxiety in adults with autism spectrum disorder}}. {Autism Res Treat}. 2014; 2014: 238764.
Dental anxiety is associated with previous distressing dental experiences, such as lack of understanding of the dentist intentions, perceptions of uncontrollability and experiences of pain during dental treatment. People with autism spectrum disorder (ASD) are impaired in building flexible predictions and expectations, which is very much needed during a dental visit. The aims of the study were to investigate if people with ASD have more negative dental experiences and a higher level of dental anxiety compared to a matched control group. Forty-seven adults with ASD and of normal intellectual performance, and 69 age- and sex-matched typically developing controls completed questionnaires on previous dental experiences and dental anxiety, the Dental Anxiety Scale, and the Dental Beliefs Survey. The ASD group experienced pain during dental treatments more often than the controls and 22% had repeatedly experienced being forced to dental treatment they were not prepared for, compared to 3% of the controls. A higher level of dental anxiety was reported by the ASD group. Dental treatment and methods for supporting the communication with patients with ASD need to be developed, in order to reduce the negative dental experiences and dental anxiety in people with ASD.
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5. Chang J, Gilman SR, Chiang AH, Sanders SJ, Vitkup D. {{Genotype to phenotype relationships in autism spectrum disorders}}. {Nat Neurosci}. 2014.
Autism spectrum disorders (ASDs) are characterized by phenotypic and genetic heterogeneity. Our analysis of functional networks perturbed in ASD suggests that both truncating and nontruncating de novo mutations contribute to autism, with a bias against truncating mutations in early embryonic development. We find that functional mutations are preferentially observed in genes likely to be haploinsufficient. Multiple cell types and brain areas are affected, but the impact of ASD mutations appears to be strongest in cortical interneurons, pyramidal neurons and the medium spiny neurons of the striatum, implicating cortical and corticostriatal brain circuits. In females, truncating ASD mutations on average affect genes with 50-100% higher brain expression than in males. Our results also suggest that truncating de novo mutations play a smaller role in the etiology of high-functioning ASD cases. Overall, we find that stronger functional insults usually lead to more severe intellectual, social and behavioral ASD phenotypes.
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6. Cohen S, Conduit R, Lockley SW, Rajaratnam SM, Cornish KM. {{The relationship between sleep and behavior in autism spectrum disorder (ASD): a review}}. {J Neurodev Disord}. 2014; 6(1): 44.
Although there is evidence that significant sleep problems are common in children with autism spectrum disorder (ASD) and that poor sleep exacerbates problematic daytime behavior, such relationships have received very little attention in both research and clinical practice. Treatment guidelines to help manage challenging behaviors in ASD fail to mention sleep at all, or they present a very limited account. Moreover, limited attention is given to children with low-functioning autism, those individuals who often experience the most severe sleep disruption and behavioral problems. This paper describes the nature of sleep difficulties in ASD and highlights the complexities of sleep disruption in individuals with low-functioning autism. It is proposed that profiling ASD children based on the nature of their sleep disruption might help to understand symptom and behavioral profiles (or vice versa) and therefore lead to better-targeted interventions. This paper concludes with a discussion of the limitations of current knowledge and proposes areas that are important for future research. Treating disordered sleep in ASD has great potential to improve daytime behavior and family functioning in this vulnerable population.
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7. Fairthorne J, Hammond G, Bourke J, Jacoby P, Leonard H. {{Early mortality and primary causes of death in mothers of children with intellectual disability or autism spectrum disorder: a retrospective cohort study}}. {PLoS One}. 2014; 9(12): e113430.
INTRODUCTION: Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. Yet no research has explored whether this poorer health is reflected in mortality rates or whether certain causes of death are more likely. We aimed to calculate the hazard ratios for death and for the primary causes of death in mothers of children with intellectual disability or ASD compared to other mothers. METHODS: The study population comprised all mothers of live-born children in Western Australia from 1983-2005. We accessed state-wide databases which enabled us to link socio-demographic details, birth dates, diagnoses of intellectual disability or ASD in the children and dates and causes of death for all mothers who had died prior to 2011. Using Cox Regression with death by any cause and death by each of the three primary causes as the event of interest, we calculated hazard ratios for death for mothers of children intellectual disability or ASD compared to other mothers. RESULTS AND DISCUSSION: During the study period, mothers of children with intellectual disability or ASD had more than twice the risk of death. Mothers of children with intellectual disability were 40% more likely to die of cancer; 150% more likely to die of cardiovascular disease and nearly 200% more likely to die from misadventure than other mothers. Due to small numbers, only hazard ratios for cancer were calculated for mothers of children with ASD. These mothers were about 50% more likely to die from cancer than other mothers. Possible causes and implications of our results are discussed. CONCLUSION: Similar studies, pooling data from registries elsewhere, would improve our understanding of factors increasing the mortality of mothers of children with intellectual disability or ASD. This would allow the implementation of informed services and interventions to improve these mothers’ longevity.
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8. Must A, Curtin C, Hubbard K, Sikich L, Bedford J, Bandini L. {{Obesity Prevention for Children with Developmental Disabilities}}. {Curr Obes Rep}. 2014; 3(2): 156-70.
The prevention of obesity in children with DD is a pressing public health issue, with implications for health status, independent living, and quality of life. Substantial evidence suggests that children with developmental disabilities (DD), including those with intellectual disabilities (ID) and autism spectrum disorder (ASD), have a prevalence of obesity at least as high if not higher than their typically developing peers. The paper reviews what is known about the classic and unique risk factors for childhood obesity in these groups of children, including dietary, physical activity, sedentary behavior, and family factors, as well as medication use. We use evidence from the literature to make the case that primary prevention at the individual/family, school and community levels will require tailoring of strategies and adapting existing intervention approaches.
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9. Ouellette-Kuntz H, Cobigo V, Balogh R, Wilton A, Lunsky Y. {{The uptake of secondary prevention by adults with intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil}. 2015; 28(1): 43-54.
BACKGROUND: Secondary prevention involves the early detection of disease while it is asymptomatic to prevent its progression. For adults with intellectual and developmental disabilities, secondary prevention is critical as they may not have the ability to recognize the early signs and symptoms of disease or lack accessible information about these. METHODS: Linked administrative health and social service data were used to document uptake related to four secondary prevention guidelines among adults with intellectual and developmental disabilities. Rates were compared to those from a general population sample representing the same age ranges. RESULTS: Of 22% of adults with intellectual and developmental disabilities had a periodic health examination in a two-year period (compared to 26.4% of adults without intellectual and developmental disabilities). Adults with intellectual and developmental disabilities were less likely to undergo recommended age and gender-specific screening for the three types of cancer studied (colorectal, breast and cervical). CONCLUSIONS: Adults with intellectual and developmental disabilities in Ontario experience disparities in secondary prevention. As changes to primary care delivery and secondary prevention recommendations in the province and elsewhere continue to evolve, close monitoring of the impacts on adults with intellectual and developmental disabilities combined with dedicated efforts to increase access is warranted.
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10. Reilly C, Atkinson P, Das KB, Chin RF, Aylett SE, Burch V, Gillberg C, Scott RC, Neville BG. {{Features of autism spectrum disorder (ASD) in childhood epilepsy: A population-based study}}. {Epilepsy Behav}. 2014; 42C: 86-92.
In a defined geographical area in the south of the UK, 115 children with active epilepsy (i.e., children who had seizures in the last year and/or children who are currently taking antiepileptic drugs (AEDs)) were identified via a computerized database and liaison with local pediatricians. Eighty-five (74%) of the children (5-15years of age) underwent a comprehensive psychological assessment. Twenty-one percent of the children met the DSM-IV-TR criteria for ASD, and 61% of them had another DSM-IV-TR behavioral or motor disorder. The Autism Spectrum Screening Questionnaire (ASSQ) was completed by parents (n=69) and by teachers (n=67) of children with an IQ>34. Only 9% of children on parent ratings and 15% of children on teacher ratings had no features of ASD. Parents reported significantly (p<.05) more features of ASD on the ASSQ compared with teachers. Factors significantly associated with responses on the ASSQ included respondent (parents reported more features), school placement (more features in specialized settings), and respondent by school placement interaction. Effective screening for ASD in children with epilepsy will need a consideration of the impact of informant and school placement on ratings. In conclusion, features of ASD were common in children with epilepsy regardless of cognitive ability. The ASSQ was a useful screening instrument in this population, and combining parent and teacher forms was optimal in terms of screening properties.
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11. Shmaya Y, Eilat-Adar S, Leitner Y, Reif S, Gabis L. {{Nutritional deficiencies and overweight prevalence among children with autism spectrum disorder}}. {Res Dev Disabil}. 2014; 38C: 1-6.
Children with autism spectrum disorder (ASD) are at risk of developing nutritional deviations. Three to six year old children with ASD were compared to their typically developing siblings and to a typically developing age and gender matched control group, in order to evaluate their intake and body mass index. Nutrient intake was compared to the Dietary Reference Intake using three-day diet diaries completed by the parents. The sum percentage of nutritional deficiencies in the ASD group compared to the typical development group was 342.5% (+/-122.9%) vs. 275.9% (+/-106.8%), respectively (P=0.026). A trend toward higher deficiency in the ASD group was observed as compared to the sibling group 363% (+/-122.9%) vs. 283.2% (+/-94.7%) (P=0.071). A higher body mass index was found in the ASD group compared to their counterparts, despite their nutritional deficiencies. In conclusion, children with ASD are more likely to suffer from nutritional deficiencies despite higher body mass index.
