1. {{Families supporting a child with intellectual or developmental disabilities: the current state of knowledge}}. {J Appl Res Intellect Disabil};2014 (Sep);27(5):420-430.
This IASSIDD Position Paper provides a concise authoritative summary of (i) existing scientific knowledge regarding the situation, challenges and wellbeing of families that include a child with intellectual and/or developmental disabilities, and (ii) priorities for future research. IASSIDD (www.iassidd.org) is the leading global organisation for researchers and research centres that seek to improve the understanding of and improve the lives of people with intellectual or developmental disabilities, their families and those who support them. The paper and the recommendations it contains have been developed through an iterative process led by IASSIDD’s Families Special Interest Research Group (SIRG). During this process, all members of the Families SIRG and all members of IASSIDD’s ruling council have had the opportunity to comment on drafts of this paper. The final Position Paper was adopted by the Council of IASSIDD on 9 July 2012.
2. Al-Zaid FS, Alhader AA, Al-Ayadhi LY. {{Altered ghrelin levels in boys with autism: a novel finding associated with hormonal dysregulation}}. {Sci Rep};2014;4:6478.
Autism is a neurodevelopmental disorder with unclear pathogenesis. Many clinical observations and hormone studies have suggested the involvement of the neuroprotective hormone ghrelin in autism. The current study aimed to investigate the potential role of ghrelin in autism and to elucidate the associated hormonal dysregulation. This case-control study investigated acyl ghrelin (AG), des-acyl ghrelin (DG), total testosterone (TT), free testosterone (FT), leptin and growth hormone (GH) levels in 31 male children with autism and 28 healthy age and sex-matched controls. Hormone levels were measured in the blood using enzyme-linked immunosorbent assay and chemiluminescence immunoassay kits. AG, DG and GH levels were significantly lower in the autism group than in the control group (p </= 0.001, p </= 0.005 and p </= 0.05, respectively). However, TT, FT and leptin levels were significantly higher in the autism group than in the control group (p </= 0.05, p </= 0.001 and p </= 0.01, respectively). Our results for the first time demonstrate low AG and DG levels in autistic children. Considering the capacity of ghrelin to affect neuroinflammatory and apoptotic processes that are linked to autism, this study suggests a potential role for the hormone ghrelin in the pathogenesis of autism.
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3. Bavin EL, Kidd E, Prendergast L, Baker E, Dissanayake C, Prior M. {{Severity of Autism is Related to Children’s Language Processing}}. {Autism Res};2014 (Sep 26)
Problems in language processing have been associated with autism spectrum disorder (ASD), with some research attributing the problems to overall language skills rather than a diagnosis of ASD. Lexical access was assessed in a looking-while-listening task in three groups of 5- to 7-year-old children; two had high-functioning ASD (HFA), an ASD severe (ASD-S) group (n = 16) and an ASD moderate (ASD-M) group (n = 21). The third group were typically developing (TD) (n = 48). Participants heard sentences of the form « Where’s the x? » and their eye movements to targets (e.g., train), phonological competitors (e.g., tree), and distractors were recorded. Proportions of looking time at target were analyzed within 200 ms intervals. Significant group differences were found between the ASD-S and TD groups only, at time intervals 1000-1200 and 1200-1400 ms postonset. The TD group was more likely to be fixated on target. These differences were maintained after adjusting for language, verbal and nonverbal IQ, and attention scores. An analysis using parent report of autistic-like behaviors showed higher scores to be associated with lower proportions of looking time at target, regardless of group. Further analysis showed fixation for the TD group to be significantly faster than for the ASD-S. In addition, incremental processing was found for all groups. The study findings suggest that severity of autistic behaviors will impact significantly on children’s language processing in real life situations when exposed to syntactically complex material. They also show the value of using online methods for understanding how young children with ASD process language. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Canal-Bedia R, Garcia-Primo P, Santos-Borbujo J, Bueno-Carrera G, Posada-De la Paz M. {{[Screening and early care programmes in children with autism spectrum disorders]}}. {Rev Neurol};2014 (Feb 24);58 Suppl 1:S123-127.
INTRODUCTION. The need for effective methods of detection and treatment in the early stages of autism spectrum disorders is something that is currently accepted both by professional societies and by the healthcare authorities alike. Up-to-date comprehensive information about the screening procedures and early care techniques for children with autism spectrum disorders would make it easier to implement better detection devices as well as easing the job of counselling families and professionals about care and intervention at early ages in children. DEVELOPMENT. This study offers an updated review of the procedures for early detection and early care in autism, while reflecting the most relevant aspects that can be deduced from the experiments and studies conducted to date. CONCLUSIONS. The review carried out on trials involving the early detection of autism yields a group of important considerations to be taken into account in carry out critical analyses of screening programmes that are already under way, as well as a set of recommendations for future experiments. The review of the early care programmes provides a promising view because studies on the effectiveness of early care programmes are becoming increasingly more frequent, systematic and methodologically more appropriate.
5. Chien LN, Lin HC, Shao YH, Chiou ST, Chiou HY. {{Risk of Autism Associated With General Anesthesia During Cesarean Delivery: A Population-Based Birth-Cohort Analysis}}. {J Autism Dev Disord};2014 (Sep 26)
The rates of Cesarean delivery (C-section) have risen to >30 % in numerous countries. Increased risk of autism has been shown in neonates delivered by C-section. This study examined the incidence of autism in neonates delivered vaginally, by C-section with regional anesthesia (RA), and by C-section with general anesthesia (GA) to evaluate the risk of autism associated with C-section and obstetric anesthesia. During a mean follow-up of 4.3 years, the incidence of autism was higher in neonates delivered by C-section with GA than in neonates delivered vaginally, with an adjusted risk of 1.52 (95 % confidence interval 1.18-1.94). However, the adjusted risk of autism in neonates delivered by C-section with RA and in neonates delivered vaginally was nonsignificantly different.
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6. de Vries M, Prins PJ, Schmand BA, Geurts HM. {{Working memory and cognitive flexibility-training for children with an autism spectrum disorder: a randomized controlled trial}}. {J Child Psychol Psychiatry};2014 (Sep 26)
BACKGROUND: People with autism spectrum disorders (ASDs) experience executive function (EF) deficits. There is an urgent need for effective interventions, but in spite of the increasing research focus on computerized cognitive training, this has not been studied in ASD. Hence, we investigated two EF training conditions in children with ASD. METHODS: In a randomized controlled trial, children with ASD (n = 121, 8-12 years, IQ > 80) were randomly assigned to an adaptive working memory (WM) training, an adaptive cognitive flexibility-training, or a non-adaptive control training (mock-training). Braingame Brian, a computerized EF-training with game-elements, was used. Outcome measures (pretraining, post-training, and 6-week-follow-up) were near-transfer to trained EFs, far-transfer to other EFs (sustained attention and inhibition), and parent’s ratings of daily life EFs, social behavior, attention deficit hyperactivity disorder (ADHD)-behavior, and quality of life. RESULTS: Attrition-rate was 26%. Children in all conditions who completed the training improved in WM, cognitive flexibility, attention, and on parent’s ratings, but not in inhibition. There were no significant differential intervention effects, although children in the WM condition showed a trend toward improvement on near-transfer WM and ADHD-behavior, and children in the cognitive flexibility condition showed a trend toward improvement on near-transfer flexibility. CONCLUSION: Although children in the WM condition tended to improve more in WM and ADHD-behavior, the lack of differential improvement on most outcome measures, the absence of a clear effect of the adaptive training compared to the mock-training, and the high attrition rate suggest that the training in its present form is probably not suitable for children with ASD.
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7. Fleury VP, Thompson JL, Wong C. {{Learning How to Be a Student: An Overview of Instructional Practices Targeting School Readiness Skills for Preschoolers With Autism Spectrum Disorder}}. {Behav Modif};2014 (Sep 26)
Due to difficulties associated with autism spectrum disorder (ASD), many children with ASD will require additional support to actively participate in classroom activities. Therefore, it is important that professionals who work with young children with ASD know what skills to teach and how to teach them. Using the recent evidence-based practice review conducted by the National Professional Development Center on ASD, we have identified studies that targeted school readiness behaviors which can have implications for academic skill development. In this article, we evaluate (a) the types of skills that have been taught to preschool children with ASD, (b) the strategies used to teach specific skills, and (c) other descriptive information, such as who delivered the intervention and the setting in which the intervention took place. We conclude by offering suggestions for future research and considerations for professional development.
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8. Gipson TT, Gerner G, Wilson MA, Blue ME, Johnston MV. {{Potential for treatment of severe autism in tuberous sclerosis complex}}. {World J Clin Pediatr};2013 (Aug 8);2(3):16-25.
The Food and Drug Administration (FDA) has approved two mechanism-based treatments for tuberous sclerosis complex (TSC)-everolimus and vigabatrin. However, these treatments have not been systematically studied in individuals with TSC and severe autism. The aim of this review is to identify the clinical features of severe autism in TSC, applicable preclinical models, and potential barriers that may warrant strategic planning in the design phase of clinical trial development. A comprehensive search strategy was formed and searched across PubMed, Embase and SCOPUS from their inception to 2/21/12, 3/16/12, and 3/12/12 respectively. After the final search date, relevant, updated articles were selected from PubMed abstracts generated electronically and emailed daily from PubMed. The references of selected articles were searched, and relevant articles were selected. A search of clinicaltrials.gov was completed using the search term « TSC » and « tuberous sclerosis complex ». Autism has been reported in as many as 60% of individuals with TSC; however, review of the literature revealed few data to support clear classification of the severity of autism in TSC. Variability was identified in the diagnostic approach, assessment of cognition, and functional outcome among the reviewed studies and case reports. Objective outcome measures were not used in many early studies; however, diffusion tensor imaging of white matter, neurophysiologic variability in infantile spasms, and cortical tuber subcategories were examined in recent studies and may be useful for objective classification of TSC in future studies. Mechanism-based treatments for TSC are currently available. However, this literature review revealed two potential barriers to successful design and implementation of clinical trials in individuals with severe autism-an unclear definition of the population and lack of validated outcome measures. Recent studies of objective outcome measures in TSC and further study of applicable preclinical models present an opportunity to overcome these barriers.
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9. Gonzalez-Navarro A, Freire-Prudencio S, Gil D, Martos-Perez J, Jordanova V, Cerga-Pashoja A, Shishkova A, Evans R. {{[FIRST: a tool for facilitating reading comprehension in high-functioning autism spectrum disorder]}}. {Rev Neurol};2014 (Feb 24);58 Suppl 1:S129-135.
INTRODUCTION. Numerous studies have been documenting during the last decades the difficulties of reading comprehension shown by people with autism spectrum disorder (ASD), including those with preserved intelligence. These difficulties can condition their educational path and directly impact on social inclusion, autonomy and access to employment. DEVELOPMENT. This article presents the work developed by a multidisciplinary team under the framework of a project funded by the European Union. It is an explanatory document intended to justify the needs that the population with high-functioning ASD have to access written information. The project is developing a software (Open Book) designed not only ‘for’ people with ASD, but ‘with’ people with ASD. CONCLUSION. Both the child population as well as the adult population of persons with ASD show difficulties in all formal components of written language. The tool needs to be flexible and facilitate it’s personalized use in order to respond to the great heterogeneity of this population.
10. Hovik KT, Egeland J, Isquith PK, Gioia G, Skogli EW, Andersen PN, Oie M. {{Distinct Patterns of Everyday Executive Function Problems Distinguish Children With Tourette Syndrome From Children With ADHD or Autism Spectrum Disorders}}. {J Atten Disord};2014 (Sep 24)
OBJECTIVE: The aim is to investigate the everyday executive function (EF) in children with Tourette syndrome (TS), Inattentive or Combined presentations of ADHD (ADHD-I/ADHD-C), autism spectrum disorders (ASD), and typically developing children (TDC). METHOD: Nineteen TS, 33 ADHD-C, 43 ADHD-I, 34 ASD, and 50 TDC participated (8-17 years). Parents completed the Behavior Rating Inventory of Executive Function (BRIEF). RESULTS: TS, ADHD-C, ADHD-I, or ASD were rated with significantly more regulation problems on all scales compared with TDC. Considerable overlap of symptoms between clinical groups made differentiation difficult on individual scales. Scale configurations showed children with TS to have more problems with emotional control (EC) than cognitive flexibility in relation to children with ASD, more problems with EC than inhibitory control in relation to ADHD-C, and more problems with EC than planning/organizing in relation to ADHD-I. CONCLUSION: Paired BRIEF scales dissociated EF problems in children with TS from children with ADHD-C, ADHD-I, or ASD. Clinical relevance is discussed.
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11. Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, Lourenco NC, Takahashi VN, da Rocha KM, Moreira ES, Vadasz E, Meira JG, Bertola D, Halloran EO, Magalhaes TR, Fett-Conte AC, Passos-Bueno MR. {{Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy}}. {PLoS One};2014;9(9):e107705.
Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.
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12. Paula-Perez I, Artigas-Pallares J. {{[Autism in the first year]}}. {Rev Neurol};2014 (Feb 24);58 Suppl 1:S117-121.
At present autism can be diagnosed with a high degree of reliability between the ages of 18 months and 2 years. Yet, the first symptoms are already present long before the diagnosis is made. This has led to a number of retrospective and prospective studies being conducted with the aim of detecting manifestations that allow a diagnosis to be reached as early as possible. The results of these studies have enabled researchers to detect symptoms that appear between the ages of 6 and 12 months. Although it has been observed that these symptoms are of limited diagnostic interest, they do provide invaluable information for the understanding of autism within the framework of neurodevelopmental disorders because they highlight a pattern of development that is initially common to several different disorders, but which progressively goes on to constitute a specific phenotype.
13. Ruggieri VL. {{[The amygdala and its relation to autism, behavioural disorders and other neurodevelopmental disorders]}}. {Rev Neurol};2014 (Feb 24);58 Suppl 1:S137-148.
The amygdala is related with the recognition of the emotional meaning of stimuli, long-term memory, the orientation of social stimuli and the perception of gaze orientation. It plays a fundamental role in the recognition of faces, especially those expressing fear, and makes it possible to comprehend different emotional states, which will facilitate an appropriate social cognition. Dysfunctions of the amygdala have been associated to a number of different neurodevelopmental disorders as well as neurocognitive and behavioural disorders in specific neurogenetic entities. A number of studies focused on the amygdalic complex have allowed researchers to understand many pathophysiological aspects and to formulate new hypotheses regarding their origins. Given that the disorders or conditions in which the role of the amygdala has been evoked are becoming increasingly more extensive, this article refers the reader to those that have aroused the most interest in recent years. Thus, they can be divided into two groups: developmental and behavioural disorders (autism, anxiety disorders, bipolar disorder, alexithymia and anorexia nervosa) and specific neurogenetic entities (fragile X, Rett, Prader-Willi and Williams syndromes), in which structural or dysfunctional alterations have been observed that may be related with their neurocognitive and behavioural symptoms. It is important to remember that the amygdala is a highly connected structure that forms truly functional networks and has been associated to different disorders with varied explanations and includes several different pathophysiological phenomena. Its role must not, therefore, be simplified in a reductionistic manner, but also placed upon a hierarchy of dysfunctions in other areas that interact with it.
14. Stratis EA, Lecavalier L. {{Informant Agreement for Youth with Autism Spectrum Disorder or Intellectual Disability: A Meta-analysis}}. {J Autism Dev Disord};2014 (Sep 25)
This study investigated informant agreement on emotional and behavior problems and social skills in youth with autism spectrum disorder or intellectual disability using meta-analytic methods. Forty-nine studies were included, consisting of 107 effect sizes. The mean weighted effect size across all raters and all behaviors was .36, reflecting moderate agreement. Consistent with meta-analyses in typically developing youth, pairs of similar informants (e.g., parent-parent) demonstrated higher agreement compared to pairs of different raters (e.g., parent-teacher). With all rater pairs combined, agreement was significantly higher for externalizing problems ([Formula: see text] = .42) than either internalizing problems ([Formula: see text] = .35) or social skills ([Formula: see text] = .30). Several factors appear to moderate the level of agreement among informants, including the youth’s diagnosis, age, and IQ.
