1. Al-Futaisi A, Idris A, Al-Sayegh A, Al-Mamari WS. {{Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature}}. {Sultan Qaboos Univ Med J};2016 (Nov);16(4):e520-e524.
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes.
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2. Baric VB, Hemmingsson H, Hellberg K, Kjellberg A. {{The Occupational Transition Process to Upper Secondary School, Further Education and/or Work in Sweden: As Described by Young Adults with Asperger Syndrome and Attention Deficit Hyperactivity Disorder}}. {J Autism Dev Disord};2016 (Dec 22)
The aim was to describe the occupational transition process to upper secondary school, further education and/or work, and to discover what support influences the process from the perspectives of young adults with Asperger syndrome or attention deficit/hyperactivity disorder. This qualitative study was performed in Sweden and comprised interviews with 15 young adults recruited from community based day centres. Support influencing the process included: occupational transition preparation in compulsory school, practical work experience in a safe environment, and support beyond the workplace. The overall understanding shows that the occupational transition process was a longitudinal one starting as early as in middle school, and continuing until the young adults obtained and were able to remain in employment or further education.
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3. Bhandari R, Kuhad A. {{Resveratrol suppresses neuroinflammation in the experimental paradigm of autism spectrum disorders}}. {Neurochem Int};2016 (Dec 23)
BACKGROUND: Neuronal dysfunction caused by neuroinflammation triggered by the stimulation of matrix metalloproteinases and the subsequent release of pro-inflammatory cytokines, as a result of oxidative stress and mitochondrial dysfunction, is one of the probable mechanisms involved in the pathogenesis of autism spectrum disorders (ASD). The aim of the present study was to explore the ameliorative potential of resveratrol on neuroinflammation in the experimental paradigm of neuroinflammatory model of ASD in rats. METHOD: 1M Propanoic acid (PPA) (4 mul) was infused over 10 min into the anterior portion of the lateral ventricle to induce ASD like symptoms in rats. Resveratrol (5, 10 and 15 mg/kg) was administered starting from the 2nd day of the surgery and continued upto 28th day. Rats were tested for various behavioural paradigms such as social interaction, stereotypy, locomotor activity, anxiety, novelty, depression, spatial learning, memory, repetitive and pervasive behaviour between the 7th day and 28th day. In addition, biochemical tests for oxidative stress, mitochondrial complexes, TNF-alpha and MMP-9 were also assessed. RESULTS: Treatment with resveratrol for four weeks restored, significantly and dose dependently, all the neurological, sensory, behavioural, biochemical and molecular deficits in PPA induced autistic phenotype in rats. CONCLUSION: The major finding of the study is that resveratrol restored the core and associated symptoms of autistic phenotype by suppressing oxidative-nitrosative stress, mitochondrial dysfunction, TNF-alpha and MMP-9 expression in PPA induced ASD in rats. Therefore, resveratrol might serve as an adjunct potential therapeutic agent for amelioration of neurobehavioural and biochemical deficits associated with autism spectrum disorders.
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4. Gilbertson LR, Lutfi RA, Ellis Weismer S. {{Auditory preference of children with autism spectrum disorders}}. {Cogn Process};2016 (Dec 21)
Research on children with autism spectrum disorders suggests differences from neurotypical children in the preference for ‘social’ versus ‘nonsocial’ sounds. Conclusions have been based largely on the use of head-turn methodology which has various limitations as a means of establishing auditory preference. In the present study, preference was assessed by measuring the frequency with which children pressed a button to hear different sounds using an interactive toy. Contrary to prior results, both groups displayed a strong preference for the highly social sounds. These findings have implications for approaches to language intervention and for theoretical debates regarding social motivation.
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5. Ichikawa H, Mikami K, Okada T, Yamashita Y, Ishizaki Y, Tomoda A, Ono H, Usuki C, Tadori Y. {{Aripiprazole in the Treatment of Irritability in Children and Adolescents with Autism Spectrum Disorder in Japan: A Randomized, Double-blind, Placebo-controlled Study}}. {Child Psychiatry Hum Dev};2016 (Dec 21)
We evaluated the efficacy and safety of aripiprazole in the treatment of irritability in children and adolescents (6-17 years) with autism spectrum disorder (ASD) in a randomized, double-blind, placebo-controlled 8-week study in Japan. Patients received flexibly dosed aripiprazole (1-15 mg/day) or placebo. Ninety-two patients were randomized to placebo (n = 45) or aripiprazole (n = 47). Aripiprazole produced a significant improvement in the mean parent/caregiver-rated Aberrant Behavior Checklist Japanese Version irritability subscale score relative to placebo from week 3 through week 8. Administration of aripiprazole provided significantly greater improvement in the mean clinician-rated Clinical Global Impression-Improvement scores than placebo from week 2 through week 8. All patients randomized to aripiprazole completed the study, and no serious adverse events were reported. Three patients in placebo group discontinued. Aripiprazole was effective and generally safe and well-tolerated in the treatment of irritability associated with ASD in Japanese children and adolescents.
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6. Ishizuka K, Kimura H, Yoshimi A, Banno M, Kushima I, Uno Y, Okada T, Mori D, Aleksic B, Ozaki N. {{Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes}}. {Nagoya J Med Sci};2016 (Dec);78(4):465-474.
MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. While deletion or duplication of MBD5 may contribute to a genetic predisposition to autism spectrum disorders (ASD), intellectual disability, or epilepsy, the impact of rare MBD5 single nucleotide variants (SNVs) on neurodevelopmental features, particularly features with late onset, has not been fully explored. In this study, we conducted exon-targeted resequencing of MBD5 with next-generation sequencing technology in 562 Japanese patients (192 with idiopathic ASD and 370 with schizophrenia (SCZ)) and detected 16 MBD5 SNVs with allele frequencies of Lien vers le texte intégral (Open Access ou abonnement)
7. Lydon S, Moran L, Healy O, Mulhern T, Enright Young K. {{A systematic review and evaluation of inhibitory stimulus control procedures as a treatment for stereotyped behavior among individuals with autism}}. {Dev Neurorehabil};2016 (Dec 23):1-11.
PURPOSE: Stereotypy is pervasive among persons with autism and may impact negatively on social inclusion and learning. The implementation of resource-intensive behavioral interventions to decrease these behaviors has been questioned. Inhibitory stimulus control procedures (ISCPs) comprise a type of antecedent-based intervention that has been proposed as an effective treatment approach for stereotypy but has received limited research attention to date. METHOD: The current systematic review sought to examine and synthesize the literature reporting applications of ISCPs in the treatment of stereotypy among persons with autism. Treatment outcomes were analyzed quantitatively and the status of ISCPs as evidence-based practice was evaluated in accordance with the National Autism Center’s National Standards Report guidelines. RESULTS: A total of 11 studies were reviewed with results indicating that ISCPs constituted an emerging treatment for the stereotypy exhibited by persons with autism. CONCLUSIONS: ISCPs comprise a promising intervention for stereotyped behavior but further research is required.
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8. Makinodan M, Iwata K, Ikawa D, Yamashita Y, Yamamuro K, Toritsuka M, Kimoto S, Okumura K, Yamauchi T, Yoshino H, Tsujii M, Sugiyama T, Tsuchiya K, Mori N, Matsuzaki H, Kishimoto T. {{Tumor necrosis factor-alpha expression in peripheral blood mononuclear cells correlates with early childhood social interaction in autism spectrum disorder}}. {Neurochem Int};2016 (Dec 19)
Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired social interaction, poor communication skills, and repetitive/restrictive behaviors. Elevated blood levels of pro-inflammatory cytokines have been reported in subjects with autism spectrum disorder. On the other hand, early childhood adverse experience also increases blood levels of these cytokines. Since social experience of children with autism spectrum disorder is generally unlike to typically developing children, we hypothesized that social interaction during childhood contribute to pro-inflammatory cytokine expression in subjects with autism spectrum disorder. We compared revised Autism Diagnostic Interview scores and expression levels of pro-inflammatory cytokines in peripheral blood mononuclear cells of subjects with autism spectrum disorder (N = 30). The score of domain A on the revised Autism Diagnostic Interview, indicating social interaction impairment in early childhood, was negatively correlated with tumor necrosis factor-alpha mRNA expression level in peripheral blood mononuclear cells but not interleukin-1beta or -6. Consistently, tumor necrosis factor-alpha mRNA expression was markedly low in subjects with autism spectrum disorder compared to typically developing children who presumably experience the regular levels of social interaction. These findings suggest that the low blood levels of tumor necrosis factor-alpha mRNA in subjects with autism spectrum disorder might be due to impaired social interaction in early childhood.
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9. Mensen VT, Wierenga LM, van Dijk S, Rijks Y, Oranje B, Mandl RC, Durston S. {{Development of cortical thickness and surface area in autism spectrum disorder}}. {Neuroimage Clin};2017;13:215-222.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder often associated with changes in cortical volume. The constituents of cortical volume – cortical thickness and surface area – have separable developmental trajectories and are related to different neurobiological processes. However, little is known about the developmental trajectories of cortical thickness and surface area in ASD. In this magnetic resonance imaging (MRI) study, we used an accelerated longitudinal design to investigate the cortical development in 90 individuals with ASD and 90 typically developing controls, aged 9 to 20 years. We quantified cortical measures using the FreeSurfer software package, and then used linear mixed model analyses to estimate the developmental trajectories for each cortical measure. Our primary finding was that the development of surface area follows a linear trajectory in ASD that differs from typically developing controls. In typical development, we found a decline in cortical surface area between the ages of 9 and 20 that was absent in ASD. We found this pattern in all regions where developmental trajectories for surface area differed between groups. When we applied a more stringent correction that takes the interdependency of measures into account, this effect on cortical surface area retained significance for left banks of superior temporal sulcus, postcentral area, and right supramarginal area. These areas have previously been implicated in ASD and are involved in the interpretation and processing of audiovisual social stimuli and distinction between self and others. Although some differences in cortical volume and thickness were found, none survived the more stringent correction for multiple testing. This study underscores the importance of distinguishing between cortical surface area and thickness in investigating cortical development, and suggests the development of cortical surface area is of importance to ASD.
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10. Stokes MA, Kornienko L, Scheeren AM, Koot HM, Begeer S. {{A comparison of children and adolescent’s self-report and parental report of the PedsQL among those with and without autism spectrum disorder}}. {Qual Life Res};2016 (Dec 22)
PURPOSE: Children and adolescents with autism spectrum disorders (ASD) are understood to experience a reduced quality of life compared to typically developing (TD) peers. The evidence to support this has largely been derived from proxy reports, in turn which have been evaluated by Cronbach’s alpha and interrater reliability, neither of which demonstrate unidimensionality of scales, or that raters use the instruments consistently. To redress this, we undertook an evaluation of the Pediatric Quality of Life Inventory (PedsQL), a widely used measure of children’s quality of life. Three questions were explored: (1). do TD children or adolescents and their parents use the PedsQL differently; (2). do children or adolescents with ASD and their parents use the PedsQL differently, and (3). do children or adolescents with ASD and TD children or adolescents use the PedsQL differently? By using the scales differently, we mean whether respondents endorse items differently contingent by group. METHODS: We recruited 229 children and adolescents with ASD who had an IQ greater than 70, and one of their parents, as well as 74 TD children or adolescents and one of their parents. Children and adolescents with ASD (aged 6-20 years) were recruited from special primary and secondary schools in the Amsterdam region. Children and adolescents were included based on an independent clinical diagnosis established prior to recruitment according to DSM-IV-TR criteria by psychiatrists and/or psychologists, qualified to make the diagnosis. Children or adolescents and parents completed their respective version of the PedsQL. RESULTS: Data were analysed for unidimensionality and for differential item functioning (DIF) across respondent for TD children and adolescents and their parents, for children and adolescents with ASD and their parents, and then last, children and adolescents with ASD were compared to TD children and adolescents for DIF. Following recoding the data, the unidimensional model was found to fit all groups. We found that parents of and TD children and adolescents do not use the PedsQL differently ([Formula: see text] = 64.86, p = ns), consistent with the literature that children and adolescents with ASD and TD children and adolescents use the PedsQL similarly ([Formula: see text] = 92.22, p = ns), though their score levels may differ. However, children and adolescents with ASD and their parents respond to the PedsQL differently ([Formula: see text] = 190.22, p < 0.001) and contingently upon features of the child or adolescent. CONCLUSIONS: We suggest this is due to children or adolescents with ASD being less forthcoming with their parents about their lives. This, however, will require additional research to confirm. Consequently, we conclude that parents of high-functioning children with ASD are unable to act as reliable proxies for their children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
11. Storch EA. {{Cognitive-behavioural group therapy for youth with high-functioning autism spectrum disorders demonstrates modest effects on social responsiveness}}. {Evid Based Ment Health};2016 (Dec 23)
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12. Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. {{Longitudinal course of epilepsy in Rett syndrome and related disorders}}. {Brain};2016 (Dec 21)
Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However, neither the longitudinal course of epilepsy nor the patterns of seizure onset and remission have been described in Rett syndrome and related conditions. The present study summarizes the findings of the Rett syndrome Natural History study. Participants with clinical Rett syndrome and those with MECP2 mutations without the clinical syndrome were recruited through the Rett Natural History study from 2006 to 2015. Clinical details were collected, and cumulative lifetime prevalence of epilepsy was determined using the Kaplan-Meier estimator. Risk factors for epilepsy were assessed using Cox proportional hazards models. Of 1205 participants enrolled in the study, 922 had classic Rett syndrome, and 778 of these were followed longitudinally for 3939 person-years. The diagnosis of atypical Rett syndrome with a severe clinical phenotype was associated with higher prevalence of epilepsy than those with classic Rett syndrome. While point prevalence of active seizures ranged from 30% to 44%, the estimated cumulative lifetime prevalence of epilepsy using Kaplan-Meier approached 90%. Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity. In contrast, many clinical features were associated with seizure prevalence; frequency of hospitalizations, inability to walk, bradykinesia, scoliosis, gastrostomy feeding, age of seizure onset, and late age of diagnosis were independently associated with higher odds of an individual having epilepsy. Aggressive behaviour was associated with lower odds. Three distinct patterns of seizure prevalence emerged in classic Rett syndrome, including those who did not have seizures throughout the study, those who had frequent relapse and remission, and those who had relentless seizures. Although 248 of those with classic Rett syndrome and a history of seizures were in terminal remission at last contact, only 74 (12% of those with a history of epilepsy) were seizure free and off anti-seizure medication. When studied longitudinally, point prevalence of active seizures is relatively low in Rett syndrome, although lifetime risk of epilepsy is higher than previously reported. While daily seizures are uncommon in Rett syndrome, prolonged remission is less common than in other causes of childhood onset epilepsy. Complete remission off anti-seizure medications is possible, but future efforts should be directed at determining what factors predict when withdrawal of medications in those who are seizure free is propitious.
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13. van Steensel FJ, Zegers VM, Bogels SM. {{Predictors of Treatment Effectiveness for Youth with ASD and Comorbid Anxiety Disorders: It all Depends on the Family?}}. {J Autism Dev Disord};2016 (Dec 21)
The study aimed to explore predictors of treatment effectiveness in a sample of 79 children with ASD who received cognitive behavioral therapy (CBT) for their anxiety disorders. Severity of anxiety disorders and anxiety symptoms were used to measure treatment effectiveness and was assessed pre-treatment, post-treatment, 3 months-, 1 and 2 years after CBT. Child characteristics and maternal anxiety did not predict treatment effect. Children with anxious fathers and children in ‘un-involved’ families had less anxiety symptoms at pre-treatment and displayed a less steep decline. Children from ‘authoritarian’ families showed higher pre-treatment anxiety levels but responded quite well to treatment. Findings stress the importance of parent (father) and family factors in the treatment of anxiety disorders in youth with ASD.
