1. Balachandar V, Dhivya V, Gomathi M, Mohanadevi S, Venkatesh B, Geetha B. {{A review of Rett syndrome (RTT) with induced pluripotent stem cells}}. {Stem Cell Investig};2016;3:52.
Human induced pluripotent stem cells (hiPSCs) are pluripotent stem cells generated from somatic cells by the introduction of a combination of pluripotency-associated genes such as OCT4, SOX2, along with either KLF4 and c-MYC or NANOG and LIN28 via retroviral or lentiviral vectors. Most importantly, hiPSCs are similar to human embryonic stem cells (hESCs) functionally as they are pluripotent and can potentially differentiate into any desired cell type when provided with the appropriate cues, but do not have the ethical issues surrounding hESCs. For these reasons, hiPSCs have huge potential in translational medicine such as disease modeling, drug screening, and cellular therapy. Indeed, patient-speci fi c hiPSCs have been generated for a multitude of diseases, including many with a neurological basis, in which disease phenotypes have been recapitulated in vitro and proof-of-principle drug screening has been performed. As the techniques for generating hiPSCs are refined and these cells become a more widely used tool for understanding brain development, the insights they produce must be understood in the context of the greater complexity of the human genome and the human brain. Disease models using iPS from Rett syndrome (RTT) patient’s fi broblasts have opened up a new avenue of drug discovery for therapeutic treatment of RTT. The analysis of X chromosome inactivation (XCI) upon differentiation of RTT-hiPSCs into neurons will be critical to conclusively demonstrate the isolation of pre-XCI RTT-hiPSCs in comparison to post-XCI RTT-hiPSCs. The current review projects on iPSC studies in RTT as well as XCI in hiPSC were it suggests for screening new potential therapeutic targets for RTT in future for the benefit of RTT patients. In conclusion, patient-specific drug screening might be feasible and would be particularly helpful in disorders where patients frequently have to try multiple drugs before finding a regimen that works.
Lien vers le texte intégral (Open Access ou abonnement)
2. Breuss MW, Gleeson JG. {{When size matters: CHD8 in autism}}. {Nat Neurosci};2016 (Oct 26);19(11):1430-1432.
Lien vers le texte intégral (Open Access ou abonnement)
3. Chiu YL, Kao S, Tou SW, Lin FG. {{Effects of heterogeneous risk factors on psychological distress in adolescents with autism and victimization experiences in Taiwan}}. {Disabil Rehabil};2016 (Oct 26):1-10.
PURPOSE: To investigate the prevalence of various types of bullying victimization among adolescents with autism spectrum disorder (ASD) and examine the effects of victimization on the mental health of adolescents with ASD. METHODS: The sample was collected from the Special Needs Education Longitudinal Study (SNELS) database released in 2011. Variables comprising seven psychological distress (PD) items and four types of bullying victimization and family-, school-, and peer-related factors were included in a multivariate regression analysis. RESULTS: Exclusion and verbal bullying were most frequently reported, 72.4% of students with ASD experiencing exclusion bullying and 66% of them experiencing verbal bullying. Among the victims, delayed bedtime, use of medication, and conflicts with parents significantly increased PD. By contrast, good relationships with parents and friends and liking school environments relieved PD symptoms. Furthermore, delayed bedtime after 12 a.m. enhanced the effects of exclusion victimization on PD in the participants. CONCLUSIONS: Our results indicated that bullying victimization among adolescents with ASD was a risk factor for their psychological well-being. Nevertheless, good parent-adolescent and interpeer relationships improved their mental health. Our results can serve as a reference in implementing strategies for motivating parents and teachers to pay more attention to the needs of adolescents with ASD. Implications for Rehabilitation More than 80% of adolescents with autism experience at least one type of bullying victimization. Bullying victimization attributes to a major factor influencing mental health of adolescents with autism. Good parent-adolescent and interpeer relationships can play beneficial roles in improving mental health of the adolescents.
Lien vers le texte intégral (Open Access ou abonnement)
4. Frye RE, Rose S, Chacko J, Wynne R, Bennuri SC, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF. {{Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines}}. {Transl Psychiatry};2016 (Oct 25);6(10):e927.
Propionic acid (PPA) is a ubiquitous short-chain fatty acid, which is a major fermentation product of the enteric microbiome. PPA is a normal intermediate of metabolism and is found in foods, either naturally or as a preservative. PPA and its derivatives have been implicated in both health and disease. Whereas PPA is an energy substrate and has many proposed beneficial effects, it is also associated with human disorders involving mitochondrial dysfunction, including propionic acidemia and autism spectrum disorders (ASDs). We aimed to investigate the dichotomy between the health and disease effects of PPA by measuring mitochondrial function in ASD and age- and gender-matched control lymphoblastoid cell lines (LCLs) following incubation with PPA at several concentrations and durations both with and without an in vitro increase in reactive oxygen species (ROS). Mitochondrial function was optimally increased at particular exposure durations and concentrations of PPA with ASD LCLs, demonstrating a greater enhancement. In contrast, increasing ROS negated the positive PPA effect with the ASD LCLs, showing a greater detriment. These data demonstrate that enteric microbiome metabolites such as PPA can have both beneficial and toxic effects on mitochondrial function, depending on concentration, exposure duration and microenvironment redox state with these effects amplified in LCLs derived from individuals with ASD. As PPA, as well as enteric bacteria, which produce PPA, have been implicated in a wide variety of diseases, including ASD, diabetes, obesity and inflammatory diseases, insight into this metabolic modulator from the host microbiome may have wide applications for both health and disease.
Lien vers le texte intégral (Open Access ou abonnement)
5. Gilboa Y, Perlman S, Pode-Shakked N, Pode-Shakked B, Shrim A, Azaria-Lahav E, Dekel B, Yonath H, Berkenstadt M, Achiron R. {{Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism}}. {Prenat Diagn};2016 (Sep 16)
OBJECTIVE: The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder. METHODS: Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist. RESULTS: Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity. CONCLUSIONS: We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. (c) 2016 John Wiley & Sons, Ltd.
Lien vers le texte intégral (Open Access ou abonnement)
6. Graber A. {{Autism, intellectual disability, and a challenge to our understanding of proxy consent}}. {Med Health Care Philos};2016 (Oct 26)
This paper focuses on a hypothetical case that represents an intervention request familiar to those who work with individuals with intellectual disability. Stacy has autism and moderate intellectual disability. Her parents have requested treatment for her hand flapping. Stacy is not competent to make her own treatment decisions; proxy consent is required. There are three primary justifications for proxy consent: the right to an open future, substituted judgment, and the best interest standard. The right to an open future justifies proxy consent on the assumption of future autonomy whereas substituted judgment justifies proxy consent via reference to past autonomy. Neither applies. Stacy has not been, nor will she be, competent to make her own treatment decisions. The best interest standard justifies proxy consent on the grounds of beneficence. It is unlikely that hand flapping harms Stacy. None of the three primary means of justifying proxy consent apply to Stacy’s case.
Lien vers le texte intégral (Open Access ou abonnement)
7. Harris JC. {{The origin and natural history of autism spectrum disorders}}. {Nat Neurosci};2016 (Oct 26);19(11):1390-1391.
Lien vers le texte intégral (Open Access ou abonnement)
8. Hidding E, Swaab H, de Sonneville LM, van Engeland H, Vorstman JA. {{The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome}}. {Clin Genet};2016 (Nov);90(5):420-427.
This paper examines how COMT158 genotypes and plasma proline levels are associated with variable penetrance of social behavioural and social cognitive problems in 22q11.2 deletion syndrome (22q11DS). Severity of autistic spectrum symptoms of 45 participants with 22q11DS was assessed using the Autism Diagnostic Interview Revised. Face and facial emotion recognition was evaluated using standardized computer-based test-paradigms. Associations with COMT158 genotypes and proline levels were examined. High proline levels and poor face recognition in individuals with the COMTMET allele, and poor facial emotion recognition, explained almost 50% of the variance in severity of autism symptomatology in individuals with 22q11DS. High proline levels and a decreased capacity to break down dopamine as a result of the COMTMET variant are both relevant in the expression of the social phenotype in patients. This epistatic interaction effect between the COMT158 genotype and proline on the expression of social deficits in 22q11DS shows how factors other than the direct effects of the deletion itself can modulate the penetrance of associated cognitive and behavioural outcomes. These findings are not only relevant to our insight into 22q11DS, but also provide a model to better understand the phenomenon of variable penetrance in other pathogenic genetic variants.
Lien vers le texte intégral (Open Access ou abonnement)
9. Hnoonual A, Sripo T, Limprasert P. {{Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder}}. {Psychiatr Genet};2016 (Dec);26(6):297-301.
To identify the underlying genetic cause of autism spectrum disorder (ASD), we performed whole-exome sequencing in 10 unrelated Thai patients with ASD. We identified a novel heterozygous missense variant (c.425C>G, p.Pro142Arg) in the Engrailed 2 (EN2) gene in two patients. The G variant has never been reported in public databases and was absent in 100 Thai patients with ASD and 435 Thai controls. A case-control study showed that the G allele of c.425C>G was significantly associated with ASD (Fisher’s exact test, P=0.0359). In addition, the new variant was predicted to be possibly damaging to the EN2 protein by the PolyPhen-2 and FATHMM bioinformatic programs. Our findings suggest that the arginine variant of the EN2 protein may play an important role in the pathology of ASD. Therefore, EN2 protein functional studies should be carried out to determine whether the novel variant has an effect on protein expression.
Lien vers le texte intégral (Open Access ou abonnement)
10. Kawamura A, Mylopoulos M, Orsino A, Jimenez E, McNaughton N. {{Promoting the Development of Adaptive Expertise: Exploring a Simulation Model for Sharing a Diagnosis of Autism With Parents}}. {Acad Med};2016 (Nov);91(11):1576-1581.
PURPOSE: To explore how a simulation model promoted the development of integrated competencies associated with adaptive expertise in senior health professions trainees as they learned to share a diagnosis of autism with parents. METHOD: A qualitative instrumental case study method was used at the University of Toronto in 2014 to explore what eight developmental pediatrics residents and two clinical psychology interns learned from participating in a simulation model designed to enable trainees to practice sharing a diagnosis of autism with parents. This model incorporated variability (three cases), active experimentation in a safe environment, and feedback from multiple perspectives (peers, faculty, standardized patients, and a parent). Field notes were collected, and semistructured interviews were conducted to explore what participants learned. Constant comparative analysis was used to identify themes iteratively. Team analysis continued until a stable thematic structure was developed and applied to the entire data set. RESULTS: Four themes were identified. Three themes described how participating in the simulation model changed residents’ and interns’ approaches to sharing a diagnosis of autism with parents from using a structured, scripted framework to share the diagnosis; to being flexible within the structured framework; and, finally, to being attentive and responsive to parents by adapting and creating new approaches for sharing the diagnosis. The fourth theme described how the multiple perspectives in the simulation model prompted learners to develop adaptive approaches. CONCLUSIONS: This simulation model helped residents and interns move beyond use of a structured, scripted communication framework toward development of adaptive expertise.
Lien vers le texte intégral (Open Access ou abonnement)
11. Kinard JL, Sideris J, Watson LR, Baranek GT, Crais ER, Wakeford L, Turner-Brown L. {{Predictors of Parent Responsiveness to 1-Year-Olds At-Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Oct 26)
Parent responsiveness is critical for child development of cognition, social-communication, and self-regulation. Parents tend to respond more frequently when children at-risk for autism spectrum disorder (ASD) demonstrate stronger social-communication; however, it is unclear how responsiveness is associated with sensory characteristics of children at-risk for ASD. To address this issue, we examined the extent to which child social-communication and sensory reactivity patterns (i.e., hyper- and hypo-reactivity) predicted parent responsiveness to 1-year-olds at-risk for ASD in a community sample of 97 parent-infant pairs. A combination of child social-communication and sensory hypo-reactivity consistently predicted how parents played and talked with their 1-year-old at-risk for ASD. Parents tended to talk less and use more play actions when infants communicated less and demonstrated stronger hypo-reactivity.
Lien vers le texte intégral (Open Access ou abonnement)
12. Levin A, Scher A. {{Sleep Problems in Young Children with Autism Spectrum Disorders: A Study of Parenting Stress, Mothers’ Sleep-Related Cognitions, and Bedtime Behaviors}}. {CNS Neurosci Ther};2016 (Nov);22(11):921-927.
INTRODUCTION: Disrupted sleep is common among children with autism spectrum disorder (ASD). AIMS: Our goal was to (1) examine the contribution of sleep problems to parenting stress in children with ASD as compared to typically developing (TD) and (2) to address maternal sleep-related cognitions and behaviors in both groups. METHODS: Mothers of 34 ASD (mean age = 39.29 months, SD = 5.22) and 31 TD children (mean age = 36.23 months, SD = 5.75) completed questionnaires measuring maternal stress, sleep-related cognitions and settling to sleep interactions, and the child’s sleep problems; mothers in the ASD group completed a symptom severity questionnaire. RESULTS: In accord with previous research, children with ASD had more sleep problems compared to the TD group, and their mothers reported higher levels of stress. In the ASD group, sleep problems contributed to the experience of maternal stress, over and above symptom severity. Across groups, maternal cognitions and bedtime interactions were significantly associated with children’s sleep problems. CONCLUSION: The results highlight the interplay between sleep-related cognitions, bedtime interactions, and sleep problems and underscore the contribution of disrupted sleep to mothers’ experience of parenting stress. As sleep problems in ASD children are common, clinicians are advised to include sleep in consultations with parents.
Lien vers le texte intégral (Open Access ou abonnement)
13. Mody M, Shui AM, Nowinski LA, Golas SB, Ferrone C, O’Rourke JA, McDougle CJ. {{Communication Deficits and the Motor System: Exploring Patterns of Associations in Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord};2016 (Oct 26)
Many children with autism spectrum disorder (ASD) have notable difficulties in motor, speech and language domains. The connection between motor skills (oral-motor, manual-motor) and speech and language deficits reported in other developmental disorders raises important questions about a potential relationship between motor skills and speech-language deficits in ASD. To this end, we examined data from children with ASD (n = 1781), 2-17 years of age, enrolled in the Autism Speaks-Autism Treatment Network (AS-ATN) registry who completed a multidisciplinary evaluation that included diagnostic, physical, cognitive and behavioral assessments as part of a routine standard of care protocol. After adjusting for age, non-verbal IQ, Attention Deficit Hyperactivity Disorder (ADHD) medication use, and muscle tone, separate multiple linear regression analyses revealed significant positive associations of fine motor skills (FM) with both expressive language (EL) and receptive language (RL) skills in an impaired FM subgroup; in contrast, the impaired gross motor (GM) subgroup showed no association with EL but a significant negative association with RL. Similar analyses between motor skills and interpersonal relationships across the sample found both GM skills and FM skills to be associated with social interactions. These results suggest potential differences in the contributions of fine versus gross motor skills to autistic profiles and may provide another lens with which to view communication differences across the autism spectrum for use in treatment interventions.
Lien vers le texte intégral (Open Access ou abonnement)
14. Quintin EM, Jo B, Hall SS, Bruno JL, Chromik LC, Raman MM, Lightbody AA, Martin A, Reiss AL. {{The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence}}. {Dev Psychopathol};2016 (Nov);28(4pt2):1457-1469.
Few studies have investigated developmental strengths and weaknesses within the cognitive profile of children and adolescents with fragile X syndrome (FXS), a single-gene cause of inherited intellectual impairment. With a prospective longitudinal design and using normalized raw scores (Z scores) to circumvent floor effects, we measured cognitive functioning of 184 children and adolescents with FXS (ages 6 to 16) using the Wechsler Scale of Intelligence for Children on one to three occasions for each participant. Participants with FXS received lower raw scores relative to the Wechsler Scale of Intelligence for Children normative sample across the developmental period. Verbal comprehension, perceptual organization, and processing speed Z scores were marked by a widening gap from the normative sample, while freedom from distractibility Z scores showed a narrowing gap. Key findings include a relative strength for verbal skills in comparison with visuospatial-constructive skills arising in adolescence and a discrepancy between working memory (weakness) and processing speed (strength) in childhood that diminishes in adolescence. Results suggest that the cognitive profile associated with FXS develops dynamically from childhood to adolescence. Findings are discussed within the context of aberrant brain morphology in childhood and maturation in adolescence. We argue that assessing disorder-specific cognitive developmental profiles will benefit future disorder-specific treatment research.
Lien vers le texte intégral (Open Access ou abonnement)
15. Shah P, Catmur C, Bird G. {{Emotional decision-making in autism spectrum disorder: the roles of interoception and alexithymia}}. {Mol Autism};2016;7:43.
The way choices are framed influences decision-making. These « framing effects » emerge through the integration of emotional responses into decision-making under uncertainty. It was previously reported that susceptibility to the framing effect was reduced in individuals with autism spectrum disorder (ASD) due to a reduced tendency to incorporate emotional information into the decision-making process. However, recent research indicates that, where observed, emotional processing impairments in ASD may be due to co-occurring alexithymia. Alexithymia is thought to arise due to impaired interoception (the ability to perceive the internal state of one’s body), raising the possibility that emotional signals are not perceived and thus not integrated into decision-making in those with alexithymia and that therefore reduced framing effects in ASD are a product of co-occurring alexithymia rather than ASD per se. Accordingly, the present study compared framing effects in autistic individuals with neurotypical controls matched for alexithymia. Results showed a marked deviation between groups. The framing effect was, in line with previous data, significantly smaller in autistic individuals, and there was no relationship between alexithymia or interoception and decision-making in the ASD group. In the neurotypical group, however, the size of the framing effect was associated with alexithymia and interoception, even after controlling for autistic traits. These results demonstrate that although framing effects are associated with interoception and alexithymia in the neurotypical population, emotional and interoceptive signals have less impact upon the decision-making process in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
16. Shaik Mohammad N, Sai Shruti P, Bharathi V, Krishna Prasad C, Hussain T, Alrokayan SA, Naik U, Radha Rama Devi A. {{Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders}}. {Psychiatr Genet};2016 (Dec);26(6):281-286.
BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD. PATIENTS AND METHODS: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk. A neuro fuzzy model was developed to explore the genetic determinants of homocysteine. Meta-analyses were carried out on 1361 ASD children and 6591 nonautistic children to explore the association of MTHFR C677T and homocysteine with the risk for ASD. RESULTS: The ANN model showed 63.8% accuracy in predicting the risk of autism. Hyperhomocysteinemia was observed in autistic children (9.67+/-4.82 vs. 6.99+/-3.21 mumol/l). The neuro fuzzy model showed synergistic interactions between MTHFR C677T and MTRR A66G inflating homocysteine levels. The meta-analysis showed MTHFR to be a genetic risk factor for autism in both fixed-effects (odds ratio: 1.47, 95% confidence interval: 1.31-1.65) and random-effects (odds ratio: 1.57, 95% confidence interval: 1.16-2.11) models. The meta-analysis of nine studies showed hyperhomocysteinemia as a significant risk factor for autism in both fixed-effects (P<0.0001) and random-effects (P=0.026) models. CONCLUSION: Genetic polymorphisms of the folate pathway were moderate predictors of autism risk. MTHFR C677T and hyperhomocysteinemia have been identified as risk factors for autism worldwide. Synergistic interactions between MTHFR C677T and MTRR A66G increase homocysteine. Lien vers le texte intégral (Open Access ou abonnement)
17. Skalny AV, Simashkova NV, Klyushnik TP, Grabeklis AR, Radysh IV, Skalnaya MG, Tinkov AA. {{Analysis of Hair Trace Elements in Children with Autism Spectrum Disorders and Communication Disorders}}. {Biol Trace Elem Res};2016 (Oct 26)
The primary objective of the present study is analysis of hair trace elements content in children with communication disorder (CD) and autism spectrum disorder (ASD). A total of 99 children from control, CD, and ASD groups (n = 33) were examined. All children were additionally divided into two subgroups according to age. Hair levels of trace elements were assessed using inductively coupled plasma mass spectrometry. The difference was considered significant at p < 0.01. The obtained data demonstrate that children with CD are characterized by significantly increased hair lithium (Li) (96 %; p = 0.008), selenium (Se) (66 %; p < 0.001), arsenic (As) (96 %; p = 0.005), beryllium (Be) (150 %; p < 0.001), and cadmium (Cd) (72 %; p = 0.007) content, being higher than the respective control values. In the ASD group, hair copper (Cu), iodine (I), and Be levels tended to be lower than the control values. In turn, the scalp hair content of Se significantly exceeded the control values (33 %; p = 0.004), whereas the level of iron (Fe) and aluminum (Al) tended to increase. After gradation for age, the most prominent differences in children with CD were detected in the elder group (5-8 years), whereas in the case of ASD-in the younger group (3-4 years old). Taking into account the role of hair as excretory mechanism for certain elements including the toxic ones, it can be proposed that children suffering from ASD are characterized by more profound alteration of metal handling and excretion in comparison to CD. Lien vers le texte intégral (Open Access ou abonnement)
18. Spruyt K, Lin JS. {{The Blind Men and the Elephant: The Risk of Misdiagnosis in Children with Developmental Disabilities}}. {CNS Neurosci Ther};2016 (Nov);22(11):873-874.
Lien vers le texte intégral (Open Access ou abonnement)
19. Sztainberg Y, Zoghbi HY. {{Lessons learned from studying syndromic autism spectrum disorders}}. {Nat Neurosci};2016 (Oct 26);19(11):1408-1417.
Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention. The demonstration of reversibility of several phenotypes in adult mice is encouraging, and brings hope that with novel therapies, skills and functionality might improve in affected children and young adults. As new research reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there will be opportunities for shared therapeutics for this class of conditions.
Lien vers le texte intégral (Open Access ou abonnement)
20. Torjesen I. {{Early intervention may limit severity of autism symptoms}}. {BMJ};2016 (Oct 26);355:i5776.
Lien vers le texte intégral (Open Access ou abonnement)
21. Wang S, Fan S, Chen B, Hakimi S, Paul LK, Zhao Q, Adolphs R. {{Revealing the world of autism through the lens of a camera}}. {Curr Biol};2016 (Oct 24);26(20):R909-R910.
People with autism spectrum disorder (ASD) show atypical attention to social stimuli [1] and gaze at faces [2] and complex images [3] in unusual ways. But all studies to date are limited by the experimenter’s selected stimuli, which are generally photographs taken by people without autism. What might participants with ASD show us if they were the ones taking the photos? We gave participants a digital camera and analysed the photos they took: images taken by participants with ASD had unusual features and showed strikingly different ways of photographing other people.
Lien vers le texte intégral (Open Access ou abonnement)
22. Weston L, Hodgekins J, Langdon PE. {{Effectiveness of cognitive behavioural therapy with people who have autistic spectrum disorders: A systematic review and meta-analysis}}. {Clin Psychol Rev};2016 (Nov);49:41-54.
The aims of this study were to undertake a meta-analytic and systematic appraisal of the literature investigating the effectiveness of cognitive behavioural therapy (CBT) when used with individuals who have autistic spectrum disorders (ASDs) for either a) affective disorders, or b) the symptoms of ASDs. Following a systematic search, 48 studies were included. CBT, used for affective disorders, was associated with a non-significant small to medium effect size, g=0.24, for self-report measures, a significant medium effect size, g=0.66, for informant-report measures, and a significant medium effect size, g=0.73, for clinician-report measures. CBT, used as a treatment for symptoms of ASDs, was associated with a small to medium non-significant effect size, g=0.25, for self-report measures, a significant small to medium effect size, g=0.48, for informant-report measures, a significant medium effect size, g=0.65, for clinician-report measures, and a significant small to medium effect size, g=0.35, for task-based measures. Sensitivity analyses reduced effect size magnitude, with the exception of that based on informant-report measures for the symptoms of ASDs, which increased, g=0.52. Definitive trials are needed to demonstrate that CBT is an empirically validated treatment for use with people who have ASDs.
Lien vers le texte intégral (Open Access ou abonnement)
23. Zhong W, Johnson CM, Wu Y, Cui N, Xing H, Zhang S, Jiang C. {{Effects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome}}. {J Neurodev Disord};2016;8:37.
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies indicate that augmenting synaptic GABA receptors (GABAARs) can alleviate RTT-like symptoms in mice. In addition to the synaptic GABAARs, there is a group of GABAARs found outside the synaptic cleft with the capability to produce sustained inhibition, which may be potential therapeutic targets for the control of neuronal excitability in RTT. METHODS: Wild-type and MECP2-null mice were randomly divided into four groups, receiving the extrasynaptic GABAAR agonist 4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridin-3-ol hydrochloride (THIP) and vehicle control, respectively. Low-dose THIP was administered to neonatal mice through lactation. RTT-like symptoms including lifespan, breathing, motor function, and social behaviors were studied when mice became mature. Changes in neuronal excitability and norepinephrine biosynthesis enzyme expression were studied in electrophysiology and molecular biology. RESULTS: With no evident sedation and other adverse side effects, early-life exposure to THIP extended the lifespan, alleviated breathing abnormalities, enhanced motor function, and improved social behaviors of MECP2-null mice. Such beneficial effects were associated with stabilization of locus coeruleus neuronal excitability and improvement of norepinephrine biosynthesis enzyme expression. CONCLUSIONS: THIP treatment in early lives might be a therapeutic approach to RTT-like symptoms in MECP2-null mice and perhaps in people with RTT as well.
