1. Bouck EC, Satsangi R, Doughty TT, Courtney WT. {{Virtual and Concrete Manipulatives: A Comparison of Approaches for Solving Mathematics Problems for Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Jun 7)
Students with autism spectrum disorder (ASD) are included in general education classes and expected to participate in general education content, such as mathematics. Yet, little research explores academically-based mathematics instruction for this population. This single subject alternating treatment design study explored the effectiveness of concrete (physical objects that can be manipulated) and virtual (3-D objects from the Internet that can be manipulated) manipulatives to teach single- and double-digit subtraction skills. Participants in this study included three elementary-aged students (ages ranging from 6 to 10) diagnosed with ASD. Students were selected from a clinic-based setting, where all participants received medically necessary intensive services provided via one-to-one, trained therapists. Both forms of manipulatives successfully assisted students in accurately and independently solving subtraction problem. However, all three students demonstrated greater accuracy and faster independence with the virtual manipulatives as compared to the concrete manipulatives. Beyond correctly solving the subtraction problems, students were also able to generalize their learning of subtraction through concrete and virtual manipulatives to more real-world applications.
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2. Chmielnicki E. {{Autism spectrum disorders: Mutual mutation mechanisms}}. {Nat Med};2013 (Jun);19(6):682.
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3. Dajani R, Koo SE, Sullivan GJ, Park IH. {{Investigation of Rett syndrome using pluripotent stem cells}}. {J Cell Biochem};2013 (Jun 6)
Rett Syndrome (RTT) is one of most prevalent female neurodevelopmental disorders. De novo mutations in X-linked MECP2 are mostly responsible for RTT. Since the identification of MeCP2 as the underlying cause of RTT, murine models have contributed to understanding the pathophysiology of RTT and function of MeCP2. Reprogramming is a procedure to produce induced pluripotent stem cells (iPSCs) by overexpression of four transcription factors. iPSCs obtain similar features as embryonic stem cells and are capable of self-renewing and differentiating into cells of all three layers. iPSCs have been utilized in modeling human diseases in vitro. Neurons differentiated from RTT-iPSCs showed the recapitulation of RTT phenotypes. Despite the early success, genetic and epigenetic instability upon reprogramming and ensuing maintenance of iPSCs raise concerns in using RTT-iPSCs as an accurate in vitro model. In this review, we update the current of iPSC-based RTT modeling, and concerns and challenges. J. Cell. Biochem. (c) 2013 Wiley Periodicals, Inc.
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4. de Andres-Garcia S, Sarinana-Gonzalez P, Romero-Martinez A, Moya-Albiol L, Gonzalez-Bono E. {{Cortisol response to stress in caregivers of offspring with autism spectrum disorder is associated with care recipient characteristics}}. {Stress};2013 (Jun 6)
Abstract Providing care for people with autism spectrum disorder (ASD) is particularly stressful and frequently associated with disturbances in the hypothalamic-pituitary-adrenal (HPA) axis of the caregiver. This study examined whether the stress response is modulated by factors such as age of the care recipient and number of years spent by the caregiver in providing care for the ASD individual. Caregivers of children (n = 15), adolescents (n = 12), and adults (n = 11) with ASD were exposed to two episodes of acute psychosocial stressor in a 1 day session. Salivary cortisol samples were obtained before, during, and after the stressor episodes. Psychological characteristics (states of anxiety, anger, and mood) were measured before and after the stressor episodes. The characteristics of the ASD individuals (age, degree of autism, global activity, and level of autonomy) were also registered. A difference in stress response was found when caregivers of ASD children were compared with those of ASD adolescents and adults, epsilon = 0.25, F(2.24,53.65) = 5.82, p < 0.004; epsilon = 0.23 and F(2.11,48.43) = 4.88, p < 0.01, respectively. Thus, upon acute-stressor exposure, caregivers of ASD individuals presented a stress response that correlated with the age of the patient (the older the patient, the lower the cortisol response). Additional factors, such as number of years spent providing care and level of autonomy of the recipient, also significantly contributed to the stress response. Together, the results demonstrate that recipient characteristics contribute to the detection of high-risk individuals within a caregiver population.
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5. Delorme R, Ey E, Toro R, Leboyer M, Gillberg C, Bourgeron T. {{Progress toward treatments for synaptic defects in autism}}. {Nat Med};2013 (Jun);19(6):685-694.
Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized by social and communication deficits and repetitive behaviors. For the majority of affected individuals, the cause of ASD remains unknown, but in at least 20% of the cases, a genetic cause can be identified. There is currently no cure for ASD; however, results from mouse models indicate that some forms of the disorder could be alleviated even at the adult stage. Genes involved in ASD seem to converge on common pathways altering synaptic homeostasis. We propose, given the clinical heterogeneity of ASD, that specific ‘synaptic clinical trials’ should be designed and launched with the aim of establishing whether phenotype ‘reversals’ could also occur in humans.
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6. Fisher MH, Moskowitz AL, Hodapp RM. {{Differences in Social Vulnerability among Individuals with Autism Spectrum Disorder, Williams Syndrome, and Down Syndrome}}. {Res Autism Spectr Disord};2013 (Aug 1);7(8):931-937.
Although individuals with disabilities are at increased risk of victimization, few studies examine persons with different disability conditions to determine whether distinctive cognitive-behavioral profiles are associated with different levels of social vulnerability. To determine the differences in social vulnerability and experiences of victimization, caregiver responses to a Social Vulnerability Questionnaire were examined for 103 caregivers of individuals with autism spectrum disorder (ASD), Williams syndrome (WS), and Down syndrome (DS). Although all three groups experienced similar rates and types of victimization, the specific correlates of social vulnerability differed by disability. Individuals with ASD displayed less risk awareness and had less social protection; those with WS were rated higher on risk factors related to perceived vulnerability and parental independence; and those with DS had less risk awareness and were perceived to be more vulnerable. Safety interventions should be tailored to address each group’s specific correlates of social vulnerability.
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7. Kapp SK. {{Empathizing with sensory and movement differences: moving toward sensitive understanding of autism}}. {Front Integr Neurosci};2013;7:38.
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8. Nath S, Roy R, Mukherjee S. {{Perinatal complications associated with autism–a case control study in a neurodevelopment and early intervention clinic}}. {J Indian Med Assoc};2012 (Aug);110(8):526-529.
Early and intensive intervention can have a profound impact on the quality of life for children at risk for autism. Hence a high degree of suspicion towards babies exposed to known risk factors is warranted. Previous studies have shown that different perinatal factors like antepartum bleeding, postmaturity, birth asphyxia, meconium aspiration syndrome, anaemia in early infancy and exposure to toxins of various origins makes an infant susceptible to development of autism; attention deficit hyperactivity disorder (ADHD) and other neurodevelopmental disorders in later life.This study aims to find out the association of perinatal risk factors in relation to development of autism spectrum disorders. All babies who are at least three years of age, attending the neurodevelopment and early intervention clinic at SSKM Hospital at Kolkata taken as cases. Age matched controls were taken from general paediatric OPD of the same hospital. After history taking, physical and neurological examination, developmental maturity was assessed by the Denver Developmental Screening Test (DDST) and Vineland Social Maturity Scale (VSMS). A semi-structured parent’s questionnaire and the modified checklist for autism in toddlers (M-CHAT) was used to screen for autism. Diagnosis was confirmed by DSM-IV-TR (Diagnostic and Statistical Manual of Mental Disorders – Fourth Edition, Text Revision) criteria. Significant correlation was found between presence of antepartum haemorrhage, pregnancy induced hypertension, preterm delivery and autism in the baby. Perinatal complications are important risk factor for autism. Knowing the risk factors will help clinicians to be aware of the avoidable complications, and to undertake either preventive steps or intense intervention to reduce the degree of disability.
9. Schaevitz LR, Berger-Sweeney JE. {{Gene-environment interactions and epigenetic pathways in autism: the importance of one-carbon metabolism}}. {ILAR J};2012 (Dec);53(3-4):322-340.
Both genetic and epigenetic factors play important roles in the rate and severity of classic autism and autism spectrum disorders (ASDs). This review focuses on DNA methylation as a key epigenetic mechanism in autism. The critical role that one-carbon (C1) metabolism plays in establishing and maintaining DNA methylation patterns makes it a likely candidate pathway to regulate epigenetic processes in ASDs. This review is the first, to our knowledge, to examine how altering C1 metabolic function through genetic and environmental factors (focusing on diet) may lead to aberrant DNA methylation and increase susceptibility to ASDs. Additionally, the critical time windows for sensitivity to genetic and dietary factors both during the development of cortical networks implicated in ASDs and in regard to potential treatments are discussed. One thing is clear, if C1 metabolism plays a critical role in ASDs, it provides a potential avenue for treatment and perhaps, ultimately, prevention.
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10. Selim ME, Al-Ayadhi LY. {{Possible ameliorative effect of breastfeeding and the uptake of human colostrum against coeliac disease in autistic rats}}. {World J Gastroenterol};2013 (Jun 7);19(21):3281-3290.
AIM: To examine the possible ameliorative effect of breastfeeding and the uptake of human colostrum against coeliac disease in autistic rats. METHODS: Female rats were fed a standard diet and received a single intraperitoneal injection of 600 mg/kg sodium valproate on day 12.5 after conception. In study 1, neonatal rats were randomly subjected to blood tests to investigate autism. In study 2, the 1(st) group was fed by the mother after an injection of interferon-gamma (IFN-gamma) and administration of gliadin. The pups in the 2(nd) group were prevented from accessing maternal milk, injected IFN-gamma, administered gliadin, and hand-fed human colostrum. The normal littermates fed by the table mothers were injected with physiological saline and served as normal controls in this study. RESULTS: The protein concentration was higher in group 2 than in group 1 in the duodenum (161.6 +/- 9 and 135.4 +/- 7 mg/g of tissue, respectively, P < 0.01). A significant increase (P < 0.001) in body weight was detected in human colostrum-treated pups on post natal day (PND) 7 and 21 vs suckling pups in group 1. A delay in eye opening was noticed in the treated rats in group 1 on PND 13 compared with the control group and group 2. Administration of a single intraperitoneal injection of 600 mg/kg sodium valproate on day 12.5 after conception resulted in significantly reduced calcium and vitamin D levels in study 1 compared with the control groups (P < 0.001). However, human colostrum uptake inhibited increases in the level of transglutaminase antibody in autistic pups with coeliac disease. CONCLUSION: The effects of early-life nutrition and human colostrum on the functional maturation of the duodenal villi in autistic rats with coeliac disease that might limit or prevent the coeliac risk with autism.
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11. Vernazza-Martin S, Longuet S, Chamot JM, Oreve MJ. {{Emotions and voluntary action: What link in children with autism?}}. {Behav Brain Res};2013 (Jun 3)
This research focuses on the impact of emotions – defined as « motivational states » – on the organization of goal directed locomotion in children with autism. Walking toward a goal involves both cognitive processes responsible for movement planning and automatic processes linked to movement programming. To these processes, motivation leading to achieving the goal is added. For some authors, a deficit of planning and/or programming processes is highlighted in autism. Others stand for some impairment of the emotional system. The aim of this research is to link these two viewpoints and to determine if, in children with autism, the organization of locomotion is affected by a positive/aversive emotion conferred to an object to fetch. Twenty-nine children participated in the study (11 children with autism – mean age 122 months; 9 mental age-matched controls – mean age 36 months; and 9 chronological age-matched controls – mean age 122 months). They were instructed to go and get a positive or aversive emotional valence object located straight ahead, at 30 degrees to the right or straight ahead then moved at mid-distance to the right. Gait analysis was performed using the Vicon system. The main results suggest that a positive emotional context promotes the cognitive processes involved in movement planning while an aversive emotional context blocks it or disturbs it in children with autism. No emotions effect is observed on movement programming. It is suggested that emotions triggered off and modulated movement planning and that the deficit observed was related to a developmental impairment rather than to a developmental delay.
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12. Whitehouse AJ. {{Autism spectrum disorders are associated with fetal growth extremely below or above average for gestational age}}. {Evid Based Ment Health};2013 (Jun 6)