1. Abbott M, Bernard P, Forge J. {{Communicating a diagnosis of Autism Spectrum Disorder – a qualitative study of parents’ experiences}}. {Clin Child Psychol Psychiatry}. 2012.
Not enough is known about parents’ experiences of receiving the news that their child warrants a diagnosis of Autism Spectrum Disorder (ASD). Sharing this information with parents is an important and difficult part of Child and Adolescent Mental Health (CAMH) practice. Qualitative methodology was used to explore the experiences of the ‘feedback session’ with nine sets of parents in a community Child and Adolescent Mental Health Service (CAMHS) in North East England. Parents gave vivid accounts of their experiences and described issues relating to the structure, style and content of the session. The experiences of CAMHS users should inform the development of good practice in this important area.
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2. Goines PE, Ashwood P. {{Cytokine dysregulation in autism spectrum disorders (ASD): Possible role of the environment}}. {Neurotoxicol Teratol}. 2012.
Autism spectrum disorders (ASD) are neurodevelopmental diseases that affect an alarming number of individuals. The etiological basis of ASD is unclear, and evidence suggests it involves both genetic and environmental factors. There are many reports of cytokine imbalances in ASD. These imbalances could have a pathogenic role, or they may be markers of underlying genetic and environmental influences. Cytokines act primarily as mediators of immunological activity, but they also have significant interactions with the nervous system. They participate in normal neural development and function, and inappropriate activity can have a variety of neurological implications. It is therefore possible that cytokine dysregulation contributes directly to neural dysfunction in ASD. Further, cytokine profiles change dramatically in the face of infection, disease, and toxic exposures. Therefore, imbalances may represent an immune response to environmental contributors to ASD. The following review is presented in two main parts. First, we discuss select cytokines implicated in ASD, including IL-1Beta, IL-6, IL-4, IFN-gamma, and TGF-Beta, and focus on their role in the nervous system. Second, we explore several neurotoxic environmental factors that may be involved in the disorders, and focus on their immunological impacts. This review represents an emerging model that recognizes the importance of both genetic and environmental factors in ASD etiology. We propose that the immune system provides critical clues regarding the nature of the gene by environment interactions that underlie ASD pathophysiology.
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3. Maskey M, Warnell F, Parr JR, Le Couteur A, McConachie H. {{Emotional and Behavioural Problems in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2012.
The type, frequency and inter-relationships of emotional and behavioural problems in 863 children with autism spectrum disorder (ASD) were investigated using the population-based Database of children with ASD living in the North East of England (Dasl(n)e). A high rate of problems was reported, with 53 % of children having 4 or more types of problems frequently. Sleep, toileting and eating problems, hyperactivity, self injury and sensory difficulties were greater in children with lower language level and in special schooling. However, anxiety, tantrums and aggression towards others were frequent regardless of age, ability or schooling. The frequency of co-existing conditions, including such emotional and behavioural problems, in children with ASD has implications for designing appropriate support services for children and families.
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4. Salowitz NM, Eccarius P, Karst J, Carson A, Schohl K, Stevens S, Van Hecke AV, Scheidt RA. {{Brief Report: Visuo-spatial Guidance of Movement during Gesture Imitation and Mirror Drawing in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2012.
Thirteen autistic and 14 typically developing children (controls) imitated hand/arm gestures and performed mirror drawing; both tasks assessed ability to reorganize the relationship between spatial goals and the motor commands needed to acquire them. During imitation, children with autism were less accurate than controls in replicating hand shape, hand orientation, and number of constituent limb movements. During shape tracing, children with autism performed accurately with direct visual feedback, but when viewing their hand in a mirror, some children with autism generated fewer errors than controls whereas others performed much worse. Large mirror drawing errors correlated with hand orientation and hand shape errors in imitation, suggesting that visuospatial information processing deficits may contribute importantly to functional motor coordination deficits in autism.
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5. Walker L, Gozzi M, Lenroot R, Thurm A, Behseta B, Swedo S, Pierpaoli C. {{Diffusion Tensor Imaging in Young Children with Autism: Biological Effects and Potential Confounds}}. {Biol Psychiatry}. 2012.
BACKGROUND: Diffusion tensor imaging (DTI) has been used over the past decade to study structural differences in the brains of children with autism compared with typically developing children. These studies generally find reduced fractional anisotropy (FA) and increased mean diffusivity (MD) in children with autism; however, the regional pattern of findings varies greatly. METHODS: We used DTI to investigate the brains of sedated children with autism (n = 39) and naturally asleep typically developing children (n = 39) between 2 and 8 years of age. Tract based spatial statistics and whole brain voxel-wise analysis were performed to investigate the regional distribution of differences between groups. RESULTS: In children with autism, we found significantly reduced FA in widespread regions and increased MD only in posterior brain regions. Significant age x group interaction was found, indicating a difference in developmental trends of FA and MD between children with autism and typically developing children. The magnitude of the measured differences between groups was small, on the order of approximately 1%-2%. Subjects and control subjects showed distinct regional differences in imaging artifacts that can affect DTI measures. CONCLUSIONS: We found statistically significant differences in DTI metrics between children with autism and typically developing children, including different developmental trends of these metrics. However, this study indicates that between-group differences in DTI studies of autism should be interpreted with caution, because their small magnitude make these measurements particularly vulnerable to the effects of artifacts and confounds, which might lead to false positive and/or false negative biological inferences.
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6. Winarni TI, Chonchaiya W, Sumekar TA, Ashwood P, Morales GM, Tassone F, Nguyen DV, Faradz SM, Van de Water J, Cook K, Hamlin A, Mu Y, Hagerman PJ, Hagerman RJ. {{Immune-mediated disorders among women carriers of fragile X premutation alleles}}. {Am J Med Genet A}. 2012.
The relative risk of immune-mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women (age 19-81 years; mean 46.35 and SD 12.60) and 72 controls (age 18-87 years; mean 52.40 and SD 15.40). One hundred fifty four (44.77%) women carrier had at least one IMD, as did 20 controls (27.78%). Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (IBS; 9.9%), Raynaud’s phenomenon (7.6%), rheumatoid arthritis (RA; 3.8%), Sjogren syndrome (2.6%), systemic lupus erythematosus (SLE; 2.03%), multiple sclerosis (1.74%). Of 55 carriers age 40 or older with FXTAS, 72.73% had at least one IMD, compared to 46.54% of those without FXTAS (n = 159), and 31.58% of controls (n = 57). The estimated odds ratio (OR) for IMD is 2.6 (95% CI 1.2-5.6, P = 0.015) for women with FXTAS relative to those without FXTAS; the likelihood of IMD in carriers without or with FXTAS was also significantly higher than for controls (OR 2.1, 95% CI 1.1-4.2, P = 0.034; OR 5.5, 95% CI 2.4-12.5, P < 0.001, respectively). Similarly, the odds of having an IMD among carriers with FXPOI is about 2.4 times higher when compared to carriers without FXPOI (95% CI 1.1-5.0; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1-5.0; P = 0.021) compared to that of controls. (c) 2012 Wiley Periodicals, Inc.
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7. Mostafa GA, Al-Ayadhi LY. {{Reduced serum concentrations of 25-hydroxy vitamin D in children with autism: Relation to autoimmunity}}. {J Neuroinflammation}. 2012; 9(1): 201.
ABSTRACT: BACKGROUND: Aside from the skeletal health affection, vitamin D deficiency has been implicated as a potential environmental factor triggering for some autoimmune disorders. Vitamin D might play a role in the regulation of the production of auto-antibodies. Immunomodulatory effects of vitamin D may act not only through modulation of T-helper cell function, but also through induction of CD4+CD25high regulatory T-cells. We are the first to investigate the relationship between serum levels of 25-hydroxy vitamin D and anti-myelin-associated glycoprotein (anti-MAG) auto-antibodies in autistic children. METHODS: Serum levels of 25-hydroxy vitamin D and anti-MAG auto-antibodies were measured in 50 autistic children, aged between 5 and 12 years, and 30 healthy-matched children. Serum 25-hydroxy vitamin D levels 10–30 ng/mL and < 10 ng/mL were defined as vitamin D insufficiency and deficiency, respectively. RESULTS: Autistic children had significantly lower serum levels of 25-hydroxy vitamin D than healthy children (P < 0.001) with 40% and 48% being vitamin D deficient and insufficient, respectively. Serum 25-hydroxy vitamin D had significant negative correlations with Childhood Autism Rating Scale (P < 0.001). Increased levels of serum anti-MAG auto-antibodies were found in 70% of autistic patients. Serum 25-hydroxy vitamin D levels had significant negative correlations with serum levels of anti-MAG auto-antibodies (P < 0.001). CONCLUSIONS: Vitamin D deficiency was found in some autistic children and this deficiency may contribute to the induction of the production of serum anti-MAG auto-antibodies in these children. However, future studies looking at a potential role of vitamin D in the pathophysiology and treatment of autism are warranted.
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8. Yamada T, Ohta H, Watanabe H, Kanai C, Tani M, Ohno T, Takayama Y, Iwanami A, Kato N, Hashimoto R. {{Functional alterations in neural substrates of geometric reasoning in adults with high-functioning autism}}. {PLoS One}. 2012; 7(8): e43220.
Individuals with autism spectrum condition (ASC) are known to excel in some perceptual cognitive tasks, but such developed functions have been often regarded as « islets of abilities » that do not significantly contribute to broader intellectual capacities. However, recent behavioral studies have reported that individuals with ASC have advantages for performing Raven’s (Standard) Progressive Matrices (RPM/RSPM), a standard neuropsychological test for general fluid intelligence, raising the possibility that ASC’s cognitive strength can be utilized for more general purposes like novel problem solving. Here, the brain activity of 25 adults with high-functioning ASC and 26 matched normal controls (NC) was measured using functional magnetic resonance imaging (fMRI) to examine neural substrates of geometric reasoning during the engagement of a modified version of the RSPM test. Among the frontal and parietal brain regions involved in fluid intelligence, ASC showed larger activation in the left lateral occipitotemporal cortex (LOTC) during an analytic condition with moderate difficulty than NC. Activation in the left LOTC and ventrolateral prefrontal cortex (VLPFC) increased with task difficulty in NC, whereas such modulation of activity was absent in ASC. Furthermore, functional connectivity analysis revealed a significant reduction of activation coupling between the left inferior parietal cortex and the right anterior prefrontal cortex during both figural and analytic conditions in ASC. These results indicate altered pattern of functional specialization and integration in the neural system for geometric reasoning in ASC, which may explain its atypical cognitive pattern, including performance on the Raven’s Matrices test.
