1. Benger M, Kinali M, Mazarakis ND. {{Autism spectrum disorder: prospects for treatment using gene therapy}}. {Mol Autism}. 2018; 9: 39.
Autism spectrum disorder (ASD) is characterised by the concomitant occurrence of impaired social interaction; restricted, perseverative and stereotypical behaviour; and abnormal communication skills. Recent epidemiological studies have reported a dramatic increase in the prevalence of ASD with as many as 1 in every 59 children being diagnosed with ASD. The fact that ASD appears to be principally genetically driven, and may be reversible postnatally, has raised the exciting possibility of using gene therapy as a disease-modifying treatment. Such therapies have already started to seriously impact on human disease and particularly monogenic disorders (e.g. metachromatic leukodystrophy, SMA type 1). In regard to ASD, technical advances in both our capacity to model the disorder in animals and also our ability to deliver genes to the central nervous system (CNS) have led to the first preclinical studies in monogenic ASD, involving both gene replacement and silencing. Furthermore, our increasing awareness and understanding of common dysregulated pathways in ASD have broadened gene therapy’s potential scope to include various polygenic ASDs. As this review highlights, despite a number of outstanding challenges, gene therapy has excellent potential to address cognitive dysfunction in ASD.
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2. Boldsen S. {{Toward a Phenomenological Account of Embodied Subjectivity in Autism}}. {Culture, medicine and psychiatry}. 2018.
Sensorimotor research is currently challenging the dominant understanding of autism as a deficit in the cognitive ability to ‘mindread’. This marks an emerging shift in autism research from a focus on the structure and processes of the mind to a focus on autistic behavior as grounded in the body. Contemporary researchers in sensorimotor differences in autism call for a reconciliation between the scientific understanding of autism and the first-person experience of autistic individuals. I argue that fulfilling this ambition requires a phenomenological understanding of the body as it presents itself in ordinary experience, namely as the subject of experience rather than a physical object. On this basis, I investigate how the phenomenology of Maurice Merleau-Ponty can be employed as a frame of understanding for bodily experience in autism. Through a phenomenological analysis of Tito Mukhopadhyay’s autobiographical work, How can I talk if my lips don’t move (2009), I illustrate the relevance and potential of phenomenological philosophy in autism research, arguing that this approach enables a deeper understanding of bodily and subjective experiences related to autism.
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3. Del Hoyo Soriano L, Thurman AJ, Harvey DJ, Ted Brown W, Abbeduto L. {{Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome}}. {J Neurodev Disord}. 2018; 10(1): 22.
BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population.
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4. Eisenbaum E. {{Tobacco product use and smoking frequency among US adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res}. 2018; 62(8): 709-18.
BACKGROUND: People with intellectual and developmental disabilities (IDD) have been overlooked in tobacco use research although they are likely to experience tobacco-related health disparities. This study examined tobacco product use and smoking frequency and amount among a sample of US Special Olympics athletes with IDD. METHODS: Multiple regression analysis was used to test whether age, gender, body mass index, blood pressure, bone density, eating fruits and vegetables and family member tobacco use were correlated with the number of cigarettes smoked per day. RESULTS: The sample of people with IDD who used tobacco (n = 501) were aged 18-75 (M = 33.37) and 76.4% were male. About 73.6% reported cigarette use only, 10.6% reported dual or poly use of cigarettes and other tobacco products (cigars, pipe, and chewing tobacco) and 15.8% reported using only tobacco products other than cigarettes. Men were more likely than women to use tobacco products other than cigarettes. Of the cigarette smokers, 79.6% were daily smokers, and their mean cigarettes per day was 10.08 (SD = 9.50). Special Olympics athletes who did not have low bone density and those who consumed fruits and vegetables less than daily reported higher numbers of cigarettes per day. CONCLUSIONS: Although people with IDD are less likely to use tobacco than the general population, study results suggest that people with IDD who smoke cigarettes are just as likely as smokers in the general US population to smoke daily. Improving overall health behaviours may be important in helping smokers with IDD to reduce their tobacco use. Research is needed to understand longitudinal patterns of tobacco use and how to prevent tobacco use among people with IDD.
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5. Fenning RM, Baker JK, Moffitt J. {{Intrinsic and Extrinsic Predictors of Emotion Regulation in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Difficulties regulating emotion have been linked to comorbid psychopathology in children with autism spectrum disorder (ASD), but little empirical work has examined predictors of dysregulation in this population. Forty-six families of children with ASD participated in a laboratory visit that included direct measurement of children’s IQ, ASD symptoms, and psychophysiological reactivity. Child emotion regulation was observed during independent and co-regulatory tasks, and parental scaffolding was rated in the dyadic context. ASD symptom severity emerged as the strongest predictor of child emotion dysregulation across contexts. Child age and parental scaffolding also uniquely predicted child dysregulation in the dyadic task. Implications for conceptualizing intrinsic and extrinsic influences on emergent emotion regulation in children with ASD are discussed, as are applications to intervention.
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6. Hooper SR, Hatton D, Sideris J, Sullivan K, Ornstein PA, Bailey DB, Jr. {{Developmental trajectories of executive functions in young males with fragile X syndrome}}. {Res Dev Disabil}. 2018.
BACKGROUND: Executive functions (EF) have been identified as impaired in FXS, but few studies have examined their developmental trajectories. AIMS: The primary aim of this longitudinal study was to examine the development of EF in young males with FXS compared to Mental Age (MA)-matched controls. METHODS AND PROCEDURES: The sample comprised 56 boys with FXS (ages 7-13 years), and 48 MA-matched typical boys (ages 4-8 years). EF tasks included measures of inhibitory control, working memory, cognitive flexibility/set-shifting, problem solving/planning, and processing speed. Tasks were administered at three time points over five-years. OUTCOMES AND RESULTS: The MA-Matched Typical boys significantly outperformed the FXS boys on all EF tasks, with the FXS Group showing a pattern of slow, but positive growth on most EF tasks. For working memory tasks, significant interactions were noted between MA and autism symptom severity, and MA and medication status. The probability of task completion increased with higher MA. CONCLUSIONS AND IMPLICATIONS: These findings contribute to our understanding of the development of EF in this population. They also lay the foundation for use of EF tasks in treatment efforts, particularly with respect to documenting improvements and practice effects, and in understanding associations with targeted developmental outcomes.
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7. Jaswal VK, Akhtar N. {{Being vs. Appearing Socially Uninterested: Challenging Assumptions about Social Motivation in Autism}}. {The Behavioral and brain sciences}. 2018: 1-84.
Progress in psychological science can be limited by a number of factors, not least of which are the starting assumptions of scientists themselves. We believe that some influential accounts of autism rest on a questionable assumption that many of its behavioral characteristics indicate a lack of social interest-an assumption that is flatly contradicted by the testimony of many autistic people themselves. In this paper, we challenge this assumption by describing alternative explanations for four such behaviors: (a) low levels of eye contact, (b) infrequent pointing, (c) motor stereotypies, and (d) echolalia. The assumption that autistic people’s unusual behaviors indicate diminished social motivation has had profound and often negative effects on the ways they are studied and treated. We argue that understanding and supporting autistic individuals will require interrogating this assumption, taking autistic testimony seriously, considering alternative explanations for unusual behaviors, and investigating unconventional-even idiosyncratic-ways that autistic individuals may express their social interest. These steps are crucial, we believe, for creating a more accurate, humane, and useful science of autism.
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8. Kotha SB, AlFaraj NSM, Ramdan TH, Alsalam MA, Al Ameer MJ, Almuzin ZM. {{Associations between Diet, Dietary and Oral Hygiene Habits with Caries Occurrence and Severity in Children with Autism at Dammam City, Saudi Arabia}}. {Open Access Maced J Med Sci}. 2018; 6(6): 1104-10.
AIM: The purpose of the study is to achieve the baseline information of the autistic child’s oral health status about the diet, dietary and hygiene habits. The association of these factors with dental caries were assessed. MATERIAL AND METHODS: The survey was composed of self-administered questionnaires to parents about their children’s’ demographic data followed by questions related to diet, dietary and hygiene habits. This is later followed by oral examination for estimating the decayed, missing and filled [dmft] scores as per WHO norms. The variables are analysed using t-tests and ANOVA. Pearson’s correlation coefficients were calculated for each of the independent variables to examine for autocorrelation. RESULTS: The mean age for the present study is 5.8 years with more predilections of caries in females. The autistic children prefer soft diet and pouch it in oral cavity resulting in increased caries though not significant. Other foods like nuts and pulses confectioneries and soft drinks resulted in increased caries, and our study shows significant relation. Consumption of sugars between meals and increased quantity of sugar per day also increased dental caries with highly significant results in our study. Hygiene habits also made a difference in the occurrence of caries though, in our study, it’s not significant. CONCLUSIONS: The study suggests that the oral health education programs should be conducted for the parents, caregivers and the teachers about the diet, dietary and the hygiene habits and the role they play in maintaining the oral hygiene.
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9. Lin CE, Koegel R. {{Treatment for Higher-Order Restricted Repetitive Behaviors (H-RRB) in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Restricted repetitive behaviors (RRB) are one of the core symptoms of autism spectrum disorder (ASD). Evidence suggests that higher-order RRB (H-RRB) are particularly challenging and can negatively impact family functioning (e.g., insistence on sameness, following idiosyncratic routines). The study examined the effects of a parent-implemented behavior intervention using a multiple baseline single case experimental design in three young children with ASD. The intervention involved self-management procedures and included principles of pivotal response treatment during which parents provided bids for children to vary from H-RRB and children obtained points for engaging in these other interests and activities. Results showed improvements in child behavior, parent and child affect and interactions, children’s engagement in family activities, and overall parent ratings of RRB.
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10. Mousain-Bosc M, Siatka C, Bali JP. Magnesium, hyperactivity and autism in children. In: Vink R, Nechifor M, editors. Magnesium in the Central Nervous System. Adelaide (AU): University of Adelaide Press
(c) 2011 The Authors.; 2011.
11. Paquet A, Olliac B, Golse B, Vaivre-Douret L. {{Nature of motor impairments in autism spectrum disorder: A comparison with developmental coordination disorder}}. {J Clin Exp Neuropsychol}. 2018: 1-14.
INTRODUCTION: Several authors have suggested the existence of motor disorders associated with developmental coordination disorder (DCD) in individuals with autism spectrum disorder (ASD). However, there are few comparative studies of psychomotor profiles that include assessments of neurological soft signs in children with ASD or DCD. We used a neuropsychomotor assessment for children with ASD from a standardized neurodevelopmental examination to understand the nature of the difficulties these children encounter. To uncover the differences and similarities in psychomotor profiles, we compared the profiles of children with ASD with those of children with DCD and focused on two recently described DCD subgroups: visuospatial-constructional (VSC) and mixed (MX). METHODS: We compared 18 children with ASD and 58 children with DCD (33 with VSC-DCD and 25 with MX-DCD) who were assessed with a battery of French-language tests (the NP-MOT) to evaluate the neuropsychomotor functions associated with visual perception and visual-spatial-motor structuring. RESULTS: Although there were similarities between the profiles of children with ASD and those with DCD (VSC-DCD or MX-DCD), these similarities were not associated with the predictive diagnostic markers that characterized subtypes of DCD. Instead, many variables (visuospatial-motor structuration, synkinetic movements, dynamic balance, manual dexterity, coordination, praxis, bodily spatial integration, and digital perception) differed among the three groups; the best performance was observed in the children with ASD. CONCLUSION: The neuropsychomotor profiles of children with ASD and those with VSC-DCD or MX-DCD differed, and these differences are discussed. Our results highlight that impairments of ASD are specific about lateralization disturbances and support the hypothesis of proprioceptive impairment due to visual fixation problems influenced by muscular tone in relation to the subcortical and cortical structures and possible interhemispheric disorder. Thus, some neuropsychomotor functions that underpin both gestures and a set of motor skills are affected.
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12. Rivkees SA, Opipari V. {{The missing link in autism spectrum disorder: a specific cause and the practitioner}}. {Pediatr Res}. 2018.
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13. Saadatzi MN, Pennington RC, Welch KC, Graham JH. {{Small-Group Technology-Assisted Instruction: Virtual Teacher and Robot Peer for Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
The authors combined virtual reality technology and social robotics to develop a tutoring system that resembled a small-group arrangement. This tutoring system featured a virtual teacher instructing sight words, and included a humanoid robot emulating a peer. The authors used a multiple-probe design across word sets to evaluate the effects of the instructional package on the explicit acquisition and vicarious learning of sight words instructed to three children with autism spectrum disorder (ASD) and the robot peer. Results indicated that participants acquired, maintained, and generalized 100% of the words explicitly instructed to them, made fewer errors while learning the words common between them and the robot peer, and vicariously learned 94% of the words solely instructed to the robot.
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14. Vernhet C, Dellapiazza F, Blanc N, Cousson-Gelie F, Miot S, Roeyers H, Baghdadli A. {{Coping strategies of parents of children with autism spectrum disorder: a systematic review}}. {Eur Child Adolesc Psychiatry}. 2018.
To deal with stress, parents of children with ASD use coping strategies that help to tackle the challenging situations of raising their child. This systematic review examines parental coping strategy’s questionnaires, factors which influence these coping strategies, interactions between these strategies and perceived stress and their impact on parental quality of life. According to PRISMA guidelines, an electronic search was conducted on Medline, PsycInfo and Eric: 156 articles were identified and 11 studies were selected. Many types of self-reported questionnaires were used to assess parental coping strategies. Studies highlighted that parents of a child with ASD used more avoidance strategies and less social support-seeking strategies than those of typical children. Furthermore, problem-focused coping protects parental stress and quality of life, that on the contrary, emotion-focused coping is a risk factor for alteration. Our systematic review illustrates the need to adapt psychoeducational interventions for parents of children with ASD.
