1. Anitha A, Nakamura K, Thanseem I, Yamada K, Iwayama Y, Toyota T, Matsuzaki H, Miyachi T, Yamada S, Tsujii M, Tsuchiya KJ, Matsumoto K, Iwata Y, Suzuki K, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N. {{Brain region-specific altered expression and association of mitochondria-related genes in autism}}. {Mol Autism};2012 (Nov 1);3(1):12.
ABSTRACT: BACKGROUND: Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions. METHODS: For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism. RESULTS: Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients. CONCLUSIONS: Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted.
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2. Blaurock-Busch E, Amin OR, Dessoki HH, Rabah T. {{Toxic Metals and Essential Elements in Hair and Severity of Symptoms among Children with Autism}}. {Maedica (Buchar)};2012 (Jan);7(1):38-48.
Objective: The objective of this study was to assess the levels of ten toxic metals and essential elements in hair samples of children with autism, and to correlate the level of these elements with the severity of autism.Method: The participants were 44 children, age 3 to 9 years, with Autistic Spectrum Disorder (ASD) according to Diagnostic and Statistical Manual of Mental Disorders 4th Edition, (DSM-IV). The severity of autistic symptomatology was measured by the Childhood Autism Rating Scale (CARS). Hair analysis was performed to evaluate the long term metal exposure and mineral level.Results: By comparing hair concentration of autistic vs nonautistic children, elevated hair concentrations were noted for aluminum, arsenic, cadmium, mercury, antimony, nickel, lead, and vanadium. Hair levels of calcium, iron, iodine, magnesium, manganese, molybdenum, zinc, and selenium were considered deficient. There was a significant positive correlation between lead & verbal communication (p = 0.020) and general impression (p = 0.008). In addition, there was a significant negative correlation between zinc & fear and nervousness (p = 0.022).Conclusion: Our data supports the historic evidence that heavy metals play a role in the development of ASD. In combination with an inadequate nutritional status the toxic effect of metals increase along with the severity of symptoms.
3. Gerdts JA, Bernier R, Dawson G, Estes A. {{The Broader Autism Phenotype in Simplex and Multiplex Families}}. {J Autism Dev Disord};2012 (Nov 2)
Mothers, fathers, and siblings from 87 multiplex (M-mothers, M-fathers, and M-siblings) and 41 simplex (S-mothers, S-fathers, and S-siblings) Autism spectrum disorder families were assessed using the Broader Phenotype Autism Symptom Scale. S-mothers, S-fathers, and S-siblings showed more social interest and were more expressive in their use of nonverbal communication compared to M-mothers, M-fathers, and M-siblings. Conversational skills were also improved in S-fathers and S-siblings compared to M-fathers and M-siblings. S-siblings showed significantly lower rigidity and intense interests compared to M-siblings. The decreased number and intensity of broader autism phenotype traits observed in parents and siblings within simplex families provide behavioral evidence consistent with findings of increased de novo genetic events in simplex families.
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4. Harrington JW, Bai R, Perkins AM. {{Screening Children for Autism in an Urban Clinic Using an Electronic M-CHAT}}. {Clin Pediatr (Phila)};2012 (Nov 1)
Background. The Modified Checklist for Autism in Toddlers (M-CHAT) is a screening tool for autism spectrum disorders in the clinic. However, the follow-up questions in the M-CHAT are difficult to implement on a paper format. Objective. To compare the effectiveness of the M-CHAT on an electronic format versus paper format in an outpatient clinic setting. Methods. A prospective study used electronic M-CHAT on the iPad. A retrospective review of paper M-CHATs 6 months prior to implementation was used as the comparison group. Results. A total of 176 participants completed the electronic M-CHAT format and 197 paper M-CHATs were retrospectively reviewed. The electronic format (3%) resulted in a significant difference in the frequency of children found to be at risk for autism compared with the paper version (11%); 99% of parents rated the experience as « good » or « excellent. » Conclusion. The electronic format lowered both false at-risk screens and false not-at-risk screens and had higher parental satisfaction.
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5. Milacic Vidojevic I, Gligorovic M, Dragojevic N. {{Tendency towards stigmatization of families of a person with autistic spectrum disorders}}. {Int J Soc Psychiatry};2012 (Oct 30)
BACKGROUND: Family members experience stigma via their connection with the affected member. Family stigma contains stereotypes of blame, shame and contamination. AIM: To establish the tendency towards stigmatization of family members of a person with autistic spectrum disorders (ASD) by a sample of the general public of Belgrade. METHODS: The sample encompassed 181 participants, of various ages and levels of education, and of different, self-assessed levels of knowledge about autism. The structure of stigmatization of family members of a person with ASD was explored applying the Family Stigma Questionnaire (FSQ) and the Level of Familiarity Questionnaire (LFQ). RESULTS: Analysis of the obtained results established that scores indicating the tendency towards stigmatization were most pronounced for variables connected to blame for deterioration of the condition of the person with autism, contamination of the individual family members by the condition, and to feeling pity for family members of a person with ASD. Statistically significant differences were established when the FSQ scores stigmatizing parents and siblings were compared. Significant differences in stigmatizing stereotypes were established according to gender and level of education, and according to the self-assessment of knowledge about autism and the level of previous contact to persons with mental disorders. CONCLUSION: Anti-stigma programmes are important especially bearing in mind that participants who self-evaluated as having the least knowledge about ASD demonstrated the highest tendency towards stigmatizing the parents of a person suffering from ASD, and those of lower education demonstrated the highest tendency towards stigmatizing the family members.
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6. Nebel MB, Joel SE, Muschelli J, Barber AD, Caffo BS, Pekar JJ, Mostofsky SH. {{Disruption of functional organization within the primary motor cortex in children with autism}}. {Hum Brain Mapp};2012 (Nov 1)
Accumulating evidence suggests that motor impairments are prevalent in autism spectrum disorder (ASD), relate to the social and communicative deficits at the core of the diagnosis and may reflect abnormal connectivity within brain networks underlying motor control and learning. Parcellation of resting-state functional connectivity data using spectral clustering approaches has been shown to be an effective means of visualizing functional organization within the brain but has most commonly been applied to explorations of normal brain function. This article presents a parcellation of a key area of the motor network, the primary motor cortex (M1), a key area of the motor control network, in adults, typically developing (TD) children and children with ASD and introduces methods for selecting the number of parcels, matching parcels across groups and testing group differences. The parcellation is based solely on patterns of connectivity between individual M1 voxels and all voxels outside of M1, and within all groups, a gross dorsomedial to ventrolateral organization emerged within M1 which was left-right symmetric. Although this gross organizational scheme was present in both groups of children, statistically significant group differences in the size and segregation of M1 parcels within regions of the motor homunculus corresponding to the upper and lower limbs were observed. Qualitative comparison of the M1 parcellation for children with ASD with that of younger and older TD children suggests that these organizational differences, with a lack of differentiation between lower limb/trunk regions and upper limb/hand regions, may be due, at least in part, to a delay in functional specialization within the motor cortex. Hum Brain Mapp, 2012. (c) 2012 Wiley Periodicals, Inc.
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7. Rombough A, Iarocci G. {{Orienting in Response to Gaze and the Social Use of Gaze among Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Nov 3)
Potential relations between gaze cueing, social use of gaze, and ability to follow line of sight were examined in children with autism and typically developing peers. Children with autism (mean age = 10 years) demonstrated intact gaze cueing. However, they preferred to follow arrows instead of eyes to infer mental state, and showed decreased accuracy in following line of sight when several visual distracters were present. Performance across tasks was not correlated for either group. Findings suggest that children with autism are less inclined to prioritize and select eyes, particularly in visually-rich environments. Gaze-following deficits may lie at the level of selective attention, rather than cueing-a possibility that can be explored with more complex and ecologically valid tasks.
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8. Seymour M, Wood C, Giallo R, Jellett R. {{Fatigue, Stress and Coping in Mothers of Children with an Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Nov 3)
Raising a child with an autism spectrum disorder (ASD) can be exhausting, which has the potential to impact on parental health and wellbeing. The current study investigated the influence of maternal fatigue and coping on the relationship between children’s problematic behaviours and maternal stress for 65 mothers of young children (aged 2-5 years) with ASDs. Results showed that maternal fatigue but not maladaptive coping mediated the relationship between problematic child behaviours and maternal stress. These findings suggest child behaviour difficulties may contribute to parental fatigue, which in turn may influence use of ineffective coping strategies and increased stress. The significance of fatigue on maternal wellbeing was highlighted as an important area for consideration in families of children with an ASD.
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9. Swettenham J, Remington A, Laing K, Fletcher R, Coleman M, Gomez JC. {{Perception of Pointing from Biological Motion Point-Light Displays in Typically Developing Children and Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Nov 3)
We examined whether the movement involved in a pointing gesture, depicted using point-light displays, is sufficient to cue attention in typically developing children (TD) and children with autism spectrum disorder (ASD) (aged 8-11 years). Using a Posner-type paradigm, a centrally located display indicated the location of a forthcoming target on 80 % of trials and the opposite location on 20 % of trials. TD children, but not children with ASD, were faster to identify a validly cued target than an invalidly cued target. A scrambled version of the point-light pointing gesture, retaining individual dot speed and direction of movement but not the configuration, produced no validity effect in either group. A video of a pointing gesture produced validity effects in both groups.
