1. Ahmad SF, Zoheir KM, Ansari MA, Nadeem A, Bakheet SA, Al-Ayadhi LY, Alzahrani MZ, Al-Shabanah OA, Al-Harbi MM, Attia SM. {{Dysregulation of Th1, Th2, Th17, and T regulatory cell-related transcription factor signaling in children with autism}}. {Mol Neurobiol}. 2016.
Autism is a neurodevelopmental disorder characterized by stereotypic repetitive behaviors, impaired social interactions, and communication deficits. Numerous immune system abnormalities have been described in individuals with autism including abnormalities in the ratio of Th1/Th2/Th17 cells; however, the expression of the transcription factors responsible for the regulation and differentiation of Th1/Th2/Th17/Treg cells has not previously been evaluated. Peripheral blood mononuclear cells (PBMCs) from children with autism (AU) or typically developing (TD) control children were stimulated with phorbol-12-myristate 13-acetate (PMA) and ionomycin in the presence of brefeldin A. The expressions of Foxp3, RORgammat, STAT-3, T-bet, and GATA-3 mRNAs and proteins were then assessed. Our study shows that children with AU displayed altered immune profiles and function, characterized by a systemic deficit of Foxp3+ T regulatory (Treg) cells and increased RORgammat+, T-bet+, GATA-3+, and production by CD4+ T cells as compared to TD. This was confirmed by real-time PCR (RT-PCR) and western blot analyses. Our results suggest that autism impacts transcription factor signaling, which results in an immunological imbalance. Therefore, the restoration of transcription factor signaling may have a great therapeutic potential in the treatment of autistic disorders.
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2. Benning SD, Kovac M, Campbell A, Miller S, Hanna EK, Damiano CR, Sabatino-DiCriscio A, Turner-Brown L, Sasson NJ, Aaron RV, Kinard J, Dichter GS. {{Late Positive Potential ERP Responses to Social and Nonsocial Stimuli in Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2016.
We examined the late positive potential (LPP) event related potential in response to social and nonsocial stimuli from youths 9 to 19 years old with (n = 35) and without (n = 34) ASD. Social stimuli were faces with positive expressions and nonsocial stimuli were related to common restricted interests in ASD (e.g., electronics, vehicles, etc.). The ASD group demonstrated relatively smaller LPP amplitude to social stimuli and relatively larger LPP amplitude to nonsocial stimuli. There were no group differences in subjective ratings of images, and there were no significant correlations between LPP amplitude and ASD symptom severity within the ASD group. LPP results suggest blunted motivational responses to social stimuli and heightened motivational responses to nonsocial stimuli in youth with ASD.
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3. Cianfaglione R, Meek A, Clarke A, Kerr M, Hastings RP, Felce D. {{Direct Observation of the Behaviour of Females with Rett Syndrome}}. {J Dev Phys Disabil}. 2016; 28: 425-41.
The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were filmed at home and at school or day centre. Analysis used real-time data capture software. Observational categories distinguished engagement in social and non-social pursuits, hand stereotypies, self-injury and the receipt of attention from a parent, teacher or carer. Associations between participant behaviour and intake variables and receipt of attention were explored. Concurrent and lagged conditional probabilities between behavioural categories and receipt of attention were calculated. Receipt of adult attention was high. Engagement in activity using the hands was associated with a less severe condition and greater developmental age. Engagement in activity, whether using the hands or not, and social engagement were positively associated with receipt of support. The extent of hand stereotypies varied greatly across participants but was independent of environmental events. Six participants self-injured. There was some evidence that self-injury was related to adult attention. Participants appeared to experience a carer and attention rich environment and their levels of engagement seemed high as a result. As in the more general literature, engagement in activity was related to personal development and to social support. Self-injury contrasted with hand stereotypies in having possible environmental function.
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4. Hagerman RJ, Hagerman P. {{Fragile X-associated tremor/ataxia syndrome – features, mechanisms and management}}. {Nat Rev Neurol}. 2016; 12(7): 403-12.
Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of these phenotypes is fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in the majority of ageing male premutation carriers but in fewer than 20% of ageing women with the premutation. The prevalence of the premutation is 1 in 150-300 females, and 1 in 400-850 males, so physicians are likely to see people affected by FXTAS. Fragile X DNA testing is broadly available in the Western world. The clinical phenotype of FXTAS at presentation can vary and includes intention tremor, cerebellar ataxia, neuropathic pain, memory and/or executive function deficits, parkinsonian features, and psychological disorders, such as depression, anxiety and/or apathy. FXTAS causes brain atrophy and white matter disease, usually in the middle cerebellar peduncles, the periventricular area, and the splenium and/or genu of the corpus callosum. Here, we review the complexities involved in the clinical management of FXTAS and consider how targeted treatment for these clinical features of FXTAS will result from advances in our understanding of the molecular mechanisms that underlie this neurodegenerative disorder. Such targeted approaches should also be more broadly applicable to earlier forms of clinical involvement among premutation carriers.
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5. Lieb-Lundell CC. {{Three Faces of Fragile X}}. {Phys Ther}. 2016.
Fragile X syndrome (FXS) is the first of three syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other two conditions are Fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS) which together are referred to as Fragile X-associated disorders (FXD). Collectively, this group comprises the three faces of Fragile X. Even though the three conditions share a common genetic defect each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains; and, for FXTAS, a late onset neurodegeneration. Although each FXD condition may benefit from physical therapy intervention, available evidence as to the efficacy of intervention appropriate to FXD is, as yet, lacking. This perspective will discuss the genetic basis of FMR1 gene dysfunction and describes health conditions related to this mutation which have a range of expressions within a family. Physical therapy concerns and possible assessment and intervention strategies will be introduced. Understanding the inter-generational effect of the FMR1 mutation with potential life span expression is a key component to identifying and treating the health conditions related to this specific genetic condition.
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6. Olexova L, Stefanik P, Krskova L. {{Increased anxiety-like behaviour and altered GABAergic system in the amygdala and cerebellum of VPA rats-An animal model of autism}}. {Neurosci Lett}. 2016.
Anxiety is one of the associated symptoms of autism spectrum disorder. According to the literature, increases in anxiety are accompanied by GABAergic system deregulation. The aim of our study, performed using an animal model of autism in the form of rats prenatally treated with valproic acid (VPA rats), was to investigate changes in anxiety-like behaviour and the gene expression of molecules that control levels of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) in the brain. Anxiety-like behaviours were investigated using zone preferences in the open field test. The levels of the 65 and 67kDa enzymes of L-glutamic acid decarboxylase (GAD) mRNAs and type 1 GABA transporter (GAT1) were evaluated in the amygdala, as well as GABA producing enzymes in the cortex layer of the cerebellum. Our research showed that adult VPA rats spent less time in the inner zone of the testing chamber and more time in the outer zone of the testing chamber in the open field test. We also found that adult VPA rats had increased expression of GAT1 in the amygdala, as well as decreased levels of GAD65 and GAD67 mRNA in the cerebellum compared to control animals. These findings support the existence of a relationship between increased anxiety-like behaviour and changes in the regulation of the GABAergic system in VPA rats.
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7. Polfuss M, Johnson N, Bonis SA, Hovis SL, Apollon F, Sawin KJ. {{Autism Spectrum Disorder and the Child’s Weight-Related Behaviors: A Parents’ Perspective}}. {J Pediatr Nurs}. 2016.
To explore parent perspectives of how the attributes of their child’s autism spectrum disorder(ASD) impact nutrition, physical activity, screen time behaviors and risk for obesity. Secondarily, we examined the parent’s perception of the healthcare providers (HCP) influence on these weight-related behaviors. DESIGN AND METHOD: We conducted and audio-recorded telephone interviews with parents of children with ASD (n=8) using a structured question guide. Data were transcribed and thematic analysis was conducted. Issues surrounding weight-related behaviors and parental strategies used were reported. RESULTS: Two overarching themes with eight subthemes emerged: (1) Challenges related to features of ASD (subthemes included fixation on food, sensory issues/rigidity, developmental factors, impaired social skills, and medication effects) and (2) Challenges related to the care of children with ASD (subthemes included lack of individualized care planning, picking your battles and the impact of ASD on family). CONCLUSION: Strategies extracted from the parent narratives promoted both healthy and unhealthy weight-related behaviors. The key finding in this study is that some parents did not follow HCP guidance when they perceived that the HCP did not understand their particular situation. PRACTICE IMPLICATIONS: Implementation of healthy weight-related behaviors can be optimized when providers consider the child’s challenging ASD behaviors, affirm the difficulties encountered by the family and provide guidance that builds on the individual child/family strengths.
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8. Shah P. {{Interoception: The Eighth Sensory System: Practical Solutions for Improving Self-Regulation, Self-Awareness and Social Understanding of Individuals with Autism Spectrum and Related Disorders : K. J. Mahler: Shawnee Mission KS, AAPC, 2015, 186 pp, $29.95 (paper), ISBN 978-1-942197-14-0}}. {J Autism Dev Disord}. 2016.
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9. Sun C, Zou M, Zhao D, Xia W, Wu L. {{Efficacy of Folic Acid Supplementation in Autistic Children Participating in Structured Teaching: An Open-Label Trial}}. {Nutrients}. 2016; 8(6).
Autism spectrum disorders (ASD) are recognized as a major public health issue. Here, we evaluated the effects of folic acid intervention on methylation cycles and oxidative stress in autistic children enrolled in structured teaching. Sixty-six autistic children enrolled in this open-label trial and participated in three months of structured teaching. Forty-four children were treated with 400 mug folic acid (two times/daily) for a period of three months during their structured teaching (intervention group), while the remaining 22 children were not given any supplement for the duration of the study (control group). The Autism Treatment Evaluation Checklist (ATEC) and Psychoeducational Profile-third edition (PEP-3) were measured at the beginning and end of the treatment period. Folic acid, homocysteine, and glutathione metabolism in plasma were measured before and after treatment in 29 autistic children randomly selected from the intervention group and were compared with 29 age-matched unaffected children (typical developmental group). The results illustrated folic acid intervention improved autism symptoms towards sociability, cognitive verbal/preverbal, receptive language, and affective expression and communication. Furthermore, this treatment also improved the concentrations of folic acid, homocysteine, and normalized glutathione redox metabolism. Folic acid supplementation may have a certain role in the treatment of children with autism.
