1. Ahlstrom BH, Wentz E. {{Difficulties in everyday life: Young persons with attention-deficit/hyperactivity disorder and autism spectrum disorders perspectives. A chat-log analysis}}. {Int J Qual Stud Health Well-being};2014;9:23376.
This study focuses on the everyday life of young persons with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). There are follow-up studies describing ADHD, and ASD in adults, and residual impairments that affect life. Few qualitative studies have been conducted on the subject of their experiences of everyday life, and even fewer are from young persons’ perspectives. This study’s aim was to describe how young persons with ADHD and ASD function and how they manage their everyday life based on analyses of Internet-based chat logs. Twelve young persons (7 males and 5 females aged 15-26) diagnosed with ADHD and ASD were included consecutively and offered 8 weeks of Internet-based Support and Coaching (IBSC). Data were collected from 12 chat logs (445 pages of text) produced interactively by the participants and the coaches. Qualitative content analysis was applied. The text was coded and sorted into subthemes and further interpreted into themes. The findings revealed two themes: « fighting against an everyday life lived in vulnerability » with the following subthemes: « difficult things, » « stress and rest, » and « when feelings and thoughts are a concern »; and the theme « struggling to find a life of one’s own » with the following subthemes: « decide and carry out, » « making life choices, » and « taking care of oneself. » Dealing with the problematic situations that everyday encompasses requires personal strength and a desire to find adequate solutions, as well as to discover a role in society. This study, into the provision of support and coaching over the Internet, led to more in-depth knowledge about these young persons’ everyday lives and revealed their ability to use IBSC to express the complexity of everyday life for young persons with ADHD and ASD. The implications of the findings are that using online coaching makes available new opportunities for healthcare professionals to acknowledge these young persons’ problems.
2. Berko ER, Suzuki M, Beren F, Lemetre C, Alaimo CM, Calder RB, Ballaban-Gil K, Gounder B, Kampf K, Kirschen J, Maqbool SB, Momin Z, Reynolds DM, Russo N, Shulman L, Stasiek E, Tozour J, Valicenti-McDermott M, Wang S, Abrahams BS, Hargitai J, Inbar D, Zhang Z, Buxbaum JD, Molholm S, Foxe JJ, Marion RW, Auton A, Greally JM. {{Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder}}. {PLoS Genet};2014 (May);10(5):e1004402.
DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a possible mediator of environmental effects during development, encoding a cellular memory reflected by altered function of progeny cells. Advanced maternal age (AMA) is associated with an increased risk of having a child with ASD for reasons that are not understood. To explore whether AMA involves covert aneuploidy or epigenetic dysregulation leading to ASD in the offspring, we tested a homogeneous ectodermal cell type from 47 individuals with ASD compared with 48 typically developing (TD) controls born to mothers of >/=35 years, using a quantitative genome-wide DNA methylation assay. We show that DNA methylation patterns are dysregulated in ectodermal cells in these individuals, having accounted for confounding effects due to subject age, sex and ancestral haplotype. We did not find mosaic aneuploidy or copy number variability to occur at differentially-methylated regions in these subjects. Of note, the loci with distinctive DNA methylation were found at genes expressed in the brain and encoding protein products significantly enriched for interactions with those produced by known ASD-causing genes, representing a perturbation by epigenomic dysregulation of the same networks compromised by DNA mutational mechanisms. The results indicate the presence of a mosaic subpopulation of epigenetically-dysregulated, ectodermally-derived cells in subjects with ASD. The epigenetic dysregulation observed in these ASD subjects born to older mothers may be associated with aging parental gametes, environmental influences during embryogenesis or could be the consequence of mutations of the chromatin regulatory genes increasingly implicated in ASD. The results indicate that epigenetic dysregulatory mechanisms may complement and interact with DNA mutations in the pathogenesis of the disorder.
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3. Knoth IS, Vannasing P, Major P, Michaud JL, Lippe S. {{Alterations of visual and auditory evoked potentials in fragile X syndrome}}. {Int J Dev Neurosci};2014 (May 27)
BACKGROUND: Fragile X Syndrome (FXS) is the most common monogenic form of intellectual disability and one of the few known monogenic causes of autism. It is caused by a trinucleotide repeat expansion in the FMR1 (‘Fragile X Mental Retardation 1’) gene, which prevents expression of the ‘Fragile X Mental Retardation Protein’ (FMRP). In FXS, the absence of FMRP leads to altered structural and functional development of the synapse, while preventing activity-based synapse maturation and synaptic pruning, which are essential for normal brain development and cognitive development. Possible impairments in information processing can be non-invasively investigated using electrophysiology. METHODS: We compared auditory (AEP) and visual (VEP) evoked potentials in twelve adolescents and young adults (10-22 years) affected by FXS to healthy controls matched by chronological age (N=12) and developmental age of cognitive functioning (N=9; 5-7 years), using analysis of variance. RESULTS: In the visual modality, the N70 and N2 amplitude have been found increased in FXS in comparison to the chronological, but not the developmental control group at occipital sites, whereas in the auditory modality N1, P2 and N2 amplitude as well as N2 latency have been found increased in FXS, relative to both chronological and developmental control groups at mid-central sites. CONCLUSIONS: The AEP/VEP profile suggests disruptions in sensory processing specific to FXS that exceed immaturity of physiological activity. In addition, the auditory modality seems to be more affected than the visual modality. Results are discussed in light of possible underlying neuronal mechanisms, including deficits in synaptic pruning and neuronal inhibition that might account for a hyperreactive nervous system in FXS.
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4. Mukaddes NM, Tutkunkardas MD, Sari O, Aydin A, Kozanoglu P. {{Characteristics of children who lost the diagnosis of autism: a sample from istanbul, Turkey}}. {Autism Res Treat};2014;2014:472120.
Aim. The aim of this study was to describe a group of children who lost a diagnosis of autism following participation in early educational programs. Method. This is a descriptive study reporting the characteristics of children (n: 39) who lost their diagnosis of autism and explaining the educational programs that these children followed. The data were collected by reviewing the participants’ files and through examinations. Results. All of the children were placed at regular psychiatric follow-ups. The mean age at referral was 2.39+/-0.75 years, whereas the mean age at the time of optimal outcome reported was 5.11 +/- 1.95 years. Two of the children were in early intensive behavioral intervention (EIBI), and the rest were in a comprehensive naturalistic behavioral program. The childhood autism rating scale (CARS) total scores at baseline and final were 32.75 +/- 3.15 and 18.01 +/- 1.76, respectively. The mean IQ of the group at final examination was 116.70 +/- 18.88. Conclusion. It could be concluded that a group of children with an autism diagnosis could lose the diagnosis of autism upon early intervention. High IQ and the development of communicative and language skills at an early age could be the most powerful factors contributing to an optimal outcome.
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5. Murphy CM, Christakou A, Daly EM, Ecker C, Giampietro V, Brammer M, Smith AB, Johnston P, Robertson DM, Murphy DG, Rubia K. {{Abnormal Functional Activation and Maturation of Fronto-Striato-Temporal and Cerebellar Regions During Sustained Attention in Autism Spectrum Disorder}}. {Am J Psychiatry};2014 (May 30)
OBJECTIVE Sustained attention problems are common in people with autism spectrum disorder (ASD) and may have significant implications for the diagnosis and management of ASD and associated comorbidities. Furthermore, ASD has been associated with atypical structural brain development. The authors used functional MRI to investigate the functional brain maturation of attention between childhood and adulthood in people with ASD. METHOD Using a parametrically modulated sustained attention/vigilance task, the authors examined brain activation and its linear correlation with age between childhood and adulthood in 46 healthy male adolescents and adults (ages 11-35 years) with ASD and 44 age- and IQ-matched typically developing comparison subjects. RESULTS Relative to the comparison group, the ASD group had significantly poorer task performance and significantly lower activation in inferior prefrontal cortical, medial prefrontal cortical, striato-thalamic, and lateral cerebellar regions. A conjunction analysis of this analysis with group differences in brain-age correlations showed that the comparison group, but not the ASD group, had significantly progressively increased activation with age in these regions between childhood and adulthood, suggesting abnormal functional brain maturation in ASD. Several regions that showed both abnormal activation and functional maturation were associated with poorer task performance and clinical measures of ASD and inattention. CONCLUSIONS The results provide first evidence that abnormalities in sustained attention networks in individuals with ASD are associated with underlying abnormalities in the functional brain maturation of these networks between late childhood and adulthood.
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6. Peterson C. {{Theory of mind understanding and empathic behavior in children with autism spectrum disorders}}. {Int J Dev Neurosci};2014 (May 27)
This paper begins with a review of past research on theory of mind and empathy in children with ASD. Using varied operational definitions of empathy ranging from physiological heart rate through story vignettes to reports by privileged observers (e.g., teachers) of children’s empathic behavior, results of previous studies are limited and contradictory. Thus new evidence is needed to answer two key questions: Are children with ASD less empathic than typically developing children? Do individual differences in theory of mind (ToM) understanding among children with ASD predict differences in their behavioral empathy? An original empirical study of 76 children aged 3-12 years (37 with ASD; 39 with typical development) addressed these. Results showed that children with ASD were significantly less empathic, according to their teachers, than typically developing children. However, this was not because of their slower ToM development. Findings showed equally clearly that ToM understanding was unrelated to empathy in children with ASD. The same was true for typically developing children once age and verbal maturity were controlled. Indeed, even the subgroup of older children with ASD in the sample who passed false belief tests were significantly less empathic than younger preschoolers who failed them.
