1. Chilosi AM, Brovedani P, Ferrari AR, Ziegler AL, Guerrini R, Deonna T. {{Language Regression Associated With Autistic Regression and Electroencephalographic (EEG) Abnormalities: A Prospective Study}}. {J Child Neurol};2013 (Apr 4)
We report a boy, referred at 25 months following a dramatic isolated language regression antedating autistic-like symptomatology. His sleep electroencephalogram (EEG) showed persistent focal epileptiform activity over the left parietal and vertex areas never associated with clinical seizures. He was started on adrenocorticotropic hormone (ACTH) with a significant improvement in language, behavior, and in EEG discharges in rapid eye movement (REM) sleep. Later course was characterized by fluctuations/regressions in language and behavior abilities, in phase with recrudescence of EEG abnormalities prompting additional ACTH courses that led to remarkable decrease in EEG abnormalities, improvement in language, and to a lesser degree, in autistic behavior. The timely documentation of regression episodes suggesting an « atypical » autistic regression, striking therapy-induced improvement, fluctuation of symptomatology over time could be ascribed to recurrent and persisting EEG abnormalities.
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2. Dhingra RR, Zhu Y, Jacono FJ, Katz DM, Galan RF, Dick TE. {{Decreased hering-breuer input-output entrainment in a mouse model of rett syndrome}}. {Front Neural Circuits};2013;7:42.
Rett syndrome, a severe X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (Mecp2), is associated with a highly irregular respiratory pattern including severe upper-airway dysfunction. Recent work suggests that hyperexcitability of the Hering-Breuer reflex (HBR) pathway contributes to respiratory dysrhythmia in Mecp2 mutant mice. To assess how enhanced HBR input impacts respiratory entrainment by sensory afferents in closed-loop in vivo-like conditions, we investigated the input (vagal stimulus trains) – output (phrenic bursting) entrainment via the HBR in wild-type and MeCP2-deficient mice. Using the in situ perfused brainstem preparation, which maintains an intact pontomedullary axis capable of generating an in vivo-like respiratory rhythm in the absence of the HBR, we mimicked the HBR feedback input by stimulating the vagus nerve (at threshold current, 0.5 ms pulse duration, 75 Hz pulse frequency, 100 ms train duration) at an inter-burst frequency matching that of the intrinsic oscillation of the inspiratory motor output of each preparation. Using this approach, we observed significant input-output entrainment in wild-type mice as measured by the maximum of the cross-correlation function, the peak of the instantaneous relative phase distribution, and the mutual information of the instantaneous phases. This entrainment was associated with a reduction in inspiratory duration during feedback stimulation. In contrast, the strength of input-output entrainment was significantly weaker in Mecp2 (-/+) mice. However, Mecp2 (-/+) mice also had a reduced inspiratory duration during stimulation, indicating that reflex behavior in the HBR pathway was intact. Together, these observations suggest that the respiratory network compensates for enhanced sensitivity of HBR inputs by reducing HBR input-output entrainment.
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3. Ellmore TM, Li H, Xue Z, Wong ST, Frye RE. {{Tract-Based Spatial Statistics Reveal Altered Relationship Between Non-verbal Reasoning Abilities and White Matter Integrity in Autism Spectrum Disorder}}. {J Int Neuropsychol Soc};2013 (Apr 8):1-6.
Altered brain connectivity accompanies autism spectrum disorders (ASD), but the relationship between connectivity and intellectual abilities, which often differs within ASD, and between ASD and typically developing (TD) children, is not understood. Here, diffusion tensor imaging (DTI) was used to explore the relationship between white matter integrity and non-verbal intelligence quotients (IQ) in children with ASD and in age- and gender-matched TD children. Tract-based spatial statistical analyses (TBSS) of DTI fractional anisotropy (FA) revealed altered relationships between white matter and IQ. Different relationships were found using within-group analyses, where regions of significant (p < .05, corrected) correlations in ASD overlapped minimally with regions of FA-IQ correlations in TD subjects. An additional between-groups analysis revealed significant correlation differences in widespread cortical and subcortical areas. These preliminary findings suggest altered brain connectivity may underlie some differences in intellectual abilities of ASD, and should be investigated further in larger samples as a function of development. (JINS, 2013, 19, 1-6).
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4. Ewing L, Pellicano E, Rhodes G. {{Reevaluating the selectivity of face-processing difficulties in children and adolescents with autism}}. {J Exp Child Psychol};2013 (Apr 2);115(2):342-355.
There are few direct examinations of whether face-processing difficulties in autism are disproportionate to difficulties with other complex non-face stimuli. Here we examined discrimination ability and memory for faces, cars, and inverted faces in children and adolescents with and without autism. Results showed that, relative to typical children, the difficulties of children and adolescents with autism were not limited to, or disproportionately severe for, faces. Rather, these participants demonstrated significant difficulties in remembering and discriminating between faces and cars. This lack of face selectivity is inconsistent with prominent theories that attribute face-processing difficulties in autism to fundamental problems with social motivation or social attention. Instead, our results are consistent with a more pervasive perceptual atypicality that may affect autistic processing of non-face stimuli as well as face stimuli.
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5. Genereux DP, Laird CD. {{At what rate do new premutation alleles arise at the fragile X locus?}}. {Hum Genet};2013 (Apr 7)
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6. Hanaie R, Mohri I, Kagitani-Shimono K, Tachibana M, Azuma J, Matsuzaki J, Watanabe Y, Fujita N, Taniike M. {{Altered Microstructural Connectivity of the Superior Cerebellar Peduncle is Related to Motor Dysfunction in Children with Autistic Spectrum Disorders}}. {Cerebellum};2013 (Apr 6)
Many studies have reported motor impairments in autistic spectrum disorders (ASD). However, the brain mechanism underlying motor impairment in ASD remains unclear. Recent neuroimaging studies have suggested that underconnectivity between the cerebellum and other brain regions contributes to the features of ASD. In this study, we investigated the microstructural integrity of the cerebellar pathways, including the superior, middle, and inferior cerebellar peduncles, of children with and without ASD by using diffusion tensor imaging (DTI) tractography to determine whether the microstructural integrity of the cerebellar pathways is related to motor function in children with ASD. Thirteen children with ASD and 11 age-, gender-, handedness-, and IQ-matched typically developing (TD) controls were enrolled in this study. DTI outcome measurements, such as fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD), for the cerebellar pathways were calculated. The Movement Assessment Battery for Children 2 (M-ABC 2) was used for assessing motor functions. There were no significant differences between the two groups in RD. However, compared to the TD subjects, patients with ASD had a significantly lower FA in the right superior cerebellar peduncle and lower AD in the left superior cerebellar peduncle, in addition to a significantly lower score in ball skills and the total test score of M-ABC 2. There was a significant positive correlation between the total test score of M-ABC 2 and FA in the right superior cerebellar peduncle in the ASD group. These findings suggest that the altered microstructural integrity of the superior cerebellar peduncle may be related to motor impairment in ASD.
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7. Johnson BP, Rinehart NJ, White O, Millist L, Fielding J. {{Saccade adaptation in autism and Asperger’s disorder}}. {Neuroscience};2013 (Apr 2)
Autism and Asperger’s disorder (AD) are neurodevelopmental disorders primarily characterized by deficits in social interaction and communication, however motor coordination deficits are increasingly recognized as a prevalent feature of these conditions. Although it has been proposed that children with autism and AD may have difficulty utilizing visual feedback during motor learning tasks, this has not been directly examined. Significantly, changes within the cerebellum, which is implicated in motor learning, are known to be more pronounced in autism compared to AD. We used the classic double-step saccade adaptation paradigm, known to depend on cerebellar integrity, to investigate differences in motor learning and the use of visual feedback in children aged 9-14 years with high-functioning autism (HFA; IQ>80; n=10) and AD (n=13). Performance was compared to age and IQ matched typically developing children (n=12). Both HFA and AD groups successfully adapted the gain of their saccades in response to perceived visual error, however the time course for adaptation was prolonged in the HFA group. While a shift in saccade dynamics typically occurs during adaptation, we revealed aberrant changes in both HFA and AD groups. This study contributes to a growing body of evidence centrally implicating the cerebellum in ocular motor dysfunction in autism. Specifically, these findings collectively imply functional impairment of the cerebellar network and its inflow and outflow tracts that underpin saccade adaptation, with greater disturbance in HFA compared to AD.
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8. Nicolaidis C, Raymaker D. {{Healthcare Experiences of Autistic Adults}}. {J Gen Intern Med};2013 (Apr 9)
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9. Nissen B. {{On psychic elements in a case of autistoid perversion}}. {Int J Psychoanal};2013 (Apr);94(2):239-256.
The paper explores the formation of psychic elements from an epistemological point of view, drawing on the work of Bion to examine a clinical case of autistoid perversion. Distinguishing the qualification of psychic elements from the realization of pre-conceptions, the paper argues that psychical elements are constituted through a mutually shared experience of presence, and so they should be understood in a paradoxical way – through being-O and transformations into K. These ideas are explored via a clinical case concerning a patient with an autistoid-perverse organization. The patient had been denied any bodily contact with her parents during her first year of life due to an infection; in later life she exhibited an autistoid coprophilic perversion. During the course of her treatment, as it became possible to break down the autistoid organization, the nameless contents surfaced in a mutually shared experience of presence. The analyst was able to hold on to their meaning, which was unavailable to the patient. The absent analyst, however, turned into the mother who ‘put the child down’ and was experienced by the patient as a suicidal threat. In being-O, the analyst was able to endure the paradox of being the one who ‘put her down’ in order not to put her down; the paradox of being-O functioned as a container for the destructive objectal dimension of the state of ‘being put down’.
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10. Schendel DE, Bresnahan M, Carter KW, Francis RW, Gissler M, Gronborg TK, Gross R, Gunnes N, Hornig M, Hultman CM, Langridge A, Lauritsen MB, Leonard H, Parner ET, Reichenberg A, Sandin S, Sourander A, Stoltenberg C, Suominen A, Suren P, Susser E. {{The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends}}. {J Autism Dev Disord};2013 (Apr 7)
The International Collaboration for Autism Registry Epidemiology (iCARE) is the first multinational research consortium (Australia, Denmark, Finland, Israel, Norway, Sweden, USA) to promote research in autism geographical and temporal heterogeneity, phenotype, family and life course patterns, and etiology. iCARE devised solutions to challenges in multinational collaboration concerning data access security, confidentiality and management. Data are obtained by integrating existing national or state-wide, population-based, individual-level data systems and undergo rigorous harmonization and quality control processes. Analyses are performed using database federation via a computational infrastructure with a secure, web-based, interface. iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic contributions to the causes and life course of autism.
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11. van Steijn DJ, Oerlemans AM, de Ruiter SW, van Aken MA, Buitelaar JK, Rommelse NN. {{Are parental autism spectrum disorder and/or attention-deficit/Hyperactivity disorder symptoms related to parenting styles in families with ASD (+ADHD) affected children?}}. {Eur Child Adolesc Psychiatry};2013 (Apr 6)
An understudied and sensitive topic nowadays is that even subthreshold symptoms of autism spectrum disorder (ASD) and attention-deficit/Hyperactivity disorder (ADHD) in parents may relate to their parenting styles. The aim of this study was to explore the influence of (the combined) effect of child diagnosis (ASD or ASD + ADHD affected/unaffected children) and parental ASD and/or ADHD on parenting styles. Ninety-six families were recruited with one child with a clinical ASD (+ADHD) diagnosis, and one unaffected sibling. Parental ASD and ADHD symptoms were assessed using self-report. The Parenting Styles Dimensions Questionnaire (PSDQ) self- and spouse-report were used to measure the authoritative, authoritarian, and permissive parenting styles. Fathers and mothers scored significantly higher than the norm data of the PSDQ on the permissive style regarding affected children, and lower on the authoritative and authoritarian parenting style for affected and unaffected children. Self- and spouse-report correlated modestly too strongly. Higher levels of paternal (not maternal) ADHD symptoms were suboptimally related to the three parenting styles. Further, two parent-child pathology interaction effects were found, indicating that fathers with high ADHD symptoms and mothers with high ASD symptoms reported to use a more permissive parenting style only towards their unaffected child. The results highlight the negative effects of paternal ADHD symptoms on parenting styles within families with ASD (+ADHD) affected offspring and the higher permissiveness towards unaffected offspring specifically when paternal ADHD and/or maternal ASD symptoms are high. Parenting training in these families may be beneficial for the well-being of all family members.
