1. Archibald AD, Hickerton CL, Jaques AM, Wake S, Cohen J, Metcalfe SA. {{« It’s about having the choice »: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome}}. {Am J Med Genet A};2012 (Dec 13)
This project explored, the views of key stakeholders regarding population-based genetic carrier screening for fragile X syndrome (FXS). Interviews and focus groups were conducted with healthcare providers, relatives of individuals with FXS and members of the general population. Data were transcribed verbatim and coded into themes. 188 individuals took part in this study. Perceived benefits of carrier screening included: learning the risk of having a child with FXS; learning the risk of fragile X-associated primary ovarian insufficiency; and the opportunity for carriers to access reproductive options. Concerns included: the emotional impact of screening and receiving a carrier result; the predictive testing nature of the carrier test with respect to fragile X-associated tremor/ataxia syndrome; potential confusion created by receiving an intermediate result; and implications of genetic screening for society. Overall, population-based genetic carrier screening was perceived to be acceptable provided it is optional and offered at an appropriate stage of life. With the support of the participants to promote individual choice by offering a population-based carrier screening program for FXS, it is essential to carefully consider how screening might be offered in order to ensure broad accessibility and facilitation of decision-making. (c) 2012 Wiley Periodicals, Inc.
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2. Auyeung B, Ahluwalia J, Thomson L, Taylor K, Hackett G, KJ OD, Baron-Cohen S. {{Prenatal versus postnatal sex steroid hormone effects on autistic traits in children at 18 to 24 months of age}}. {Mol Autism};2012 (Dec 11);3(1):17.
ABSTRACT: BACKGROUND: Studies of prenatal exposure to sex steroid hormones predict autistic traits in children at 18 to 24 and at 96 months of age. However, it is not known whether postnatal exposure to these hormones has a similar effect. This study compares prenatal and postnatal sex steroid hormone levels in relation to autistic traits in 18 to 24-month-old children.Fetal testosterone (fT) and fetal estradiol (fE) levels were measured in amniotic fluid from pregnant women (n = 35) following routine second-trimester amniocentesis. Saliva samples were collected from these children when they reached three to four months of age and were analyzed for postnatal testosterone (pT) levels. Mothers were asked to complete the Quantitative Checklist for Autism in Toddlers (Q-CHAT), a measure of autistic traits in children 18 to 24 months old.Finding: fT (but not pT) levels were positively associated with scores on the Q-CHAT. fE and pT levels showed no sex differences and no relationships with fT levels. fT levels were the only variable that predicted Q-CHAT scores. CONCLUSIONS: These preliminary findings are consistent with the hypothesis that prenatal (but not postnatal) androgen exposure, coinciding with the critical period for sexual differentiation of the brain, is associated with the development of autistic traits in 18 to 24 month old toddlers. However, it is recognized that further work with a larger sample population is needed before the effects of postnatal androgen exposure on autistic traits can be ruled out. These results are also in line with the fetal androgen theory of autism, which suggests that prenatal, organizational effects of androgen hormones influence the development of autistic traits in later life.
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3. El-Ansary A, Al-Ayadhi L. {{Neuroinflammation in autism spectrum disorders}}. {J Neuroinflammation};2012 (Dec 11);9(1):265.
ABSTRACT: Objectives: The neurobiological basis for autism remains poorly understood. However, research suggests that environmentalfactors and neuroinflammation, as well as genetic factors, are contributors. This study aims to test the role that might be played by heat shock protein (HSP)70, transforming growth factor (TGF)-beta2, Caspase 7 and interferon-gamma (IFN-gamma)in the pathophysiology of autism.Materials and methods: HSP70, TGF-beta2, Caspase 7 and INF-gamma as biochemical parameters related to inflammation were determined in plasma of 20 Saudi autistic male patients and compared to 19 age- and gender-matched control samples. RESULTS: The obtained data recorded that Saudi autistic patients have remarkably higher plasma HSP70, TGF-beta2, Caspase 7 and INF-gamma compared to age and gender-matched controls. INF-gamma recorded the highest (67.8%) while TGF-beta recorded the lowest increase (49.04%). Receiver Operating Characteristics (ROC) analysis together with predictiveness diagrams proved that the measured parameters recorded satisfactory levels of specificity and sensitivity and all could be used as predictive biomarkers. CONCLUSION: Alteration of the selected parameters confirm the role of neuroinflammation and apoptosis mechanisms in the etiology of autism together with the possibility of the use of HSP70, TGF-beta2, Caspase 7 and INF-gamma as predictive biomarkers that could be used to predict safety, efficacy of a specific suggested therapy or natural supplements, thereby providing guidance in selecting it for patients or tailoring its dose.
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4. Lemonnier E, Degrez C, Phelep M, Tyzio R, Josse F, Grandgeorge M, Hadjikhani N, Ben-Ari Y. {{A randomised controlled trial of bumetanide in the treatment of autism in children}}. {Transl Psychiatry};2012;2:e202.
Gamma aminobutyric acid (GABA)-mediated synapses and the oscillations they orchestrate are altered in autism. GABA-acting benzodiazepines exert in some patients with autism paradoxical effects, raising the possibility that like in epilepsies, GABA excites neurons because of elevated intracellular concentrations of chloride. Following a successful pilot study,(1) we have now performed a double-blind clinical trial using the diuretic, chloride-importer antagonist bumetanide that reduces intracellular chloride reinforcing GABAergic inhibition. Sixty children with autism or Asperger syndrome (3-11 years old) received for 3 months placebo or bumetanide (1 mg daily), followed by 1-month wash out. Determination of the severity of autism was made with video films at day 0 (D0) and D90 by blind, independent evaluators. Bumetanide reduced significantly the Childhood Autism Rating Scale (CARS) (D90-D0; P<0.004 treated vs placebo), Clinical Global Impressions (P<0.017 treated vs placebo) and Autism Diagnostic Observation Schedule values when the most severe cases (CARS values above the mean+/-s.d.; n=9) were removed (Wilcoxon test: P-value=0.031; Student’s t-test: P-value=0.017). Side effects were restricted to an occasional mild hypokalaemia (3.0-3.5 mM l(-1) K(+)) that was treated with supplemental potassium. In a companion study, chronic bumetanide treatment significantly improved accuracy in facial emotional labelling, and increased brain activation in areas involved in social and emotional perception (Hadjikhani et al., submitted). Therefore, bumetanide is a promising novel therapeutic agent to treat autism. Larger trials are warranted to better determine the population best suited for this treatment.
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5. Parmanto B, Pulantara IW, Schutte JL, Saptono A, McCue MP. {{An Integrated Telehealth System for Remote Administration of an Adult Autism Assessment}}. {Telemed J E Health};2012 (Dec 11)
Abstract We developed a telehealth system to administer an autism assessment remotely. The remote assessment system integrates videoconferencing, stimuli presentation, recording, image and video presentation, and electronic assessment scoring into an intuitive software platform. This is an advancement over existing technologies used in telemental health, which currently require several devices. The number of children, adolescents, and adults with autism spectrum disorders (ASDs) has increased dramatically over the past 20 years and is expected to continue to increase in coming years. In general, there are not many clinicians trained in either the diagnosis or treatment of adults with ASD. Given the number of adults with autism in need, a remote assessment system can potentially provide a solution to the lack of trained clinicians. The goal is to make the remote assessment system as close to face-to-face assessment as possible, yet versatile enough to support deployment in underserved areas. The primary challenge to achieving this goal is that the assessment requires social interaction that appears natural and fluid, so the remote system needs to be able to support fluid natural interaction. For this study we developed components to support this type of interaction and integrated these components into a system capable of supporting the entire autistic assessment protocol. We then implemented the system and evaluated the system on real patients. The results suggest that we have achieved our goal in developing a system with high-quality interaction that is easy to use.
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6. Winder BM, Wozniak RH, Parlade MV, Iverson JM. {{Spontaneous Initiation of Communication in Infants at Low and Heightened Risk for Autism Spectrum Disorders}}. {Dev Psychol};2012 (Dec 10)
Communication spontaneously initiated by infants at heightened risk (HR; n = 15) for autism spectrum disorders (ASD) is compared with that in low-risk (LR; n = 15) infants at 13 and 18 months of age. Infants were observed longitudinally during naturalistic in-home interaction and semistructured play with caregivers. At both ages, HR infants spontaneously produced Words, Communicative Non-Word Vocalizations, show and point Gestures, and Gesture + Non-Word Vocalization combinations at lower rates than LR peers. This difference also held for Gesture + Word combinations at 18 but not 13 months. At 36 months, all HR children were evaluated for ASD, and 3 received a diagnosis of autistic disorder. At both 13 and 18 months, these 3 children had been at or near the bottom of the distribution on all spontaneous communication variables. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
