1. Burkett K, Morris E, Anthony J, Shambley-Ebron D, Manning-Courtney P. {{Parenting African American Children With Autism: The Influence of Respect and Faith in Mother, Father, Single-, and Two-Parent Care}}. {J Transcult Nurs};2016 (Aug 10)
PURPOSE: Parents are the most significant contributor to care of children with autism spectrum disorder (ASD), and as such research on African American parenting in ASD is conspicuously absent. Findings relevant to parenting are discussed from a study with urban African American families caring for children with ASD. DESIGN: An ethnonursing study was conducted with 24 African American family members of children with ASD and 28 professionals. Data were analyzed and reported as themes. FINDINGS: Two universal themes of were found of respect and faith in God and family that influenced parental care. Two diverse themes of mother’s watchful care and father’s protective care, along with differences in feelings of isolation and dependence on supports were found among single- and two-parent families. DISCUSSION AND PRACTICE IMPLICATIONS: When health care professionals increase their knowledge and understanding of cultural practices in the parental care of children with ASD, they provide health care that is culturally congruent.
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2. Defense-Netrval DA, Fernandes FD. {{The provision of speech-language therapy in services destined to individuals with Autism Spectrum Disorder (ASD)}}. {Codas};2016 (Aug 4);0:0.
The increased prevalence of autism spectrum disorder (ASD) worldwide has been a major public health concern; therefore, discussion about the services and therapies required has become important. This study aimed to characterize the provision of speech-language therapy services in the metropolitan area of Sao Paulo. To this end, a questionnaire with 23 questions was developed based on the Balanced Scorecard methodology. This questionnaire was applied to 854 individuals assisted in 25 ASD services. The results show that only 64% of the ASD services offer speech-language therapy and that the number of individuals assisted is below the expected. Therefore, there is a necessity for better management in the speech-language therapy services offered to the ASD population.
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3. Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs L. {{New insights in Rett syndrome using pathway analysis for transcriptomics data}}. {Wien Med Wochenschr};2016 (Aug 12)
The analysis of transcriptomics data is able to give an overview of cellular processes, but requires sophisticated bioinformatics tools and methods to identify the changes. Pathway analysis software, like PathVisio, captures the information about biological pathways from databases and brings this together with the experimental data to enable visualization and understanding of the underlying processes. Rett syndrome is a rare disease, but still one of the most abundant causes of intellectual disability in females. Cause of this neurological disorder is mutation of one single gene, the methyl-CpG-binding protein 2 (MECP2) gene. This gene is responsible for many steps in neuronal development and function. Although the genetic mutation and the clinical phenotype are well described, the molecular pathways linking them are not yet fully elucidated. In this study we demonstrate a workflow for the analysis of transcriptomics data to identify biological pathways and processes which are changed in a Mecp2 -/y mouse model.
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4. Horne T, Leonard H, Stannage K, Downs J. {{A qualitative investigation of recovery after femoral fracture in Rett syndrome}}. {Child Care Health Dev};2016 (Aug 11)
BACKGROUND: Children with severe disability often develop osteoporosis and have an increased risk of fracture. In Rett syndrome, the prevalence of fracture is four times greater than in the general population, and the femur is commonly affected. This study used qualitative methods to investigate the regaining of mobility within 12 months following femoral fracture in Rett syndrome and parent caregiver experiences. METHODS: Caregivers (n = 14) of cases registered with the Australian Rett Syndrome Database with a daughter with Rett syndrome were recruited if their daughter sustained a femoral fracture between 2009 and 2014. Median (interquartile range) age at fracture was 11 years and 4 months (8 years and 8 months to 22 years and 3 months). Qualitative methods were used to investigate parent/caregiver experiences and their daughter’s recovery following fracture. Themes in the interview data were identified with thematic analysis. RESULTS: Operative management was chosen for those walking independently and non-operative management for most of the remaining. All who walked independently and one of the four who required assistance recovered pre-operative walking skills within 6 months. Themes identified by caregivers related to the complexities of pain recognition, the caregiver emotional journey and later rebuilding of relationships with service providers. CONCLUSIONS: Those who walked with assistance were vulnerable to loss of this skill. Difficulties in pain recognition increased time to diagnose fracture, and the acute episode was associated with heightened caregiver stress. Service providers can use family-centred practice models to support the strengthening of family functioning following this acute event that is surprisingly common in those with severe disability.
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5. Hundley RJ, Shui A, Malow BA. {{Relationship Between Subtypes of Restricted and Repetitive Behaviors and Sleep Disturbance in Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Aug 10)
We examined the association of two types of restricted and repetitive behaviors, repetitive sensory motor (RSM) and insistence on sameness (IS), with sleep problems in children with autism spectrum disorder (ASD). Participants included 532 children (aged 2-17) who participated in the Autism Speaks Autism Treatment Network research registry. Confirmatory factor analysis of the Autism Diagnostic Interview-Revised detected the presence of RSM and IS. RSM behaviors were positively associated with parent-reported sleep problems, and this relationship remained significant after controlling for anxiety symptoms. IS was not significantly associated with sleep problems. Better understanding of the relationship between specific types of repetitive behaviors and sleep problems may allow providers to tailor interventions to the individual presentations of their patients with ASD.
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6. Jackson JL. {{Capsule Commentary on Nicolaidis et al., The Development and Evaluation of an Online Healthcare Toolkit for Autistic Adults and their Primary Care Providers}}. {J Gen Intern Med};2016 (Aug 10)
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7. Koolschijn PC, Caan MW, Teeuw J, Olabarriaga SD, Geurts HM. {{Age-related differences in autism: The case of white matter microstructure}}. {Hum Brain Mapp};2016 (Aug 11)
Autism spectrum disorder (ASD) is typified as a brain connectivity disorder in which white matter abnormalities are already present early on in life. However, it is unknown if and to which extent these abnormalities are hard-wired in (older) adults with ASD and how this interacts with age-related white matter changes as observed in typical aging. The aim of this first cross-sectional study in mid- and late-aged adults with ASD was to characterize white matter microstructure and its relationship with age. We utilized diffusion tensor imaging with head motion control in 48 adults with ASD and 48 age-matched controls (30-74 years), who also completed a Flanker task. Intra-individual variability of reaction times (IIVRT) measures based on performance on the Flanker interference task were used to assess IIVRT-white matter microstructure associations. We observed primarily higher mean and radial diffusivity in white matter microstructure in ASD, particularly in long-range fibers, which persisted after taking head motion into account. Importantly, group-by-age interactions revealed higher age-related mean and radial diffusivity in ASD, in projection and association fiber tracts. Subtle dissociations were observed in IIVRT-white matter microstructure relations between groups, with the IIVRT-white matter association pattern in ASD resembling observations in cognitive aging. The observed white matter microstructure differences are lending support to the structural underconnectivity hypothesis in ASD. These reductions seem to have behavioral percussions given the atypical relationship with IIVRT. Taken together, the current results may indicate different age-related patterns of white matter microstructure in adults with ASD. Hum Brain Mapp, 2016. (c) 2016 Wiley Periodicals, Inc.
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8. Majumder P, Chu JF, Chatterjee B, Swamy KB, Shen CJ. {{Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP}}. {Acta Neuropathol};2016 (Aug 12)
For proper mammalian brain development and functioning, the translation of many neuronal mRNAs needs to be repressed without neuronal activity stimulations. We have discovered that the expression of a subclass of neuronal proteins essential for neurodevelopment and neuron plasticity is co-regulated at the translational level by TDP-43 and the Fragile X Syndrome protein FMRP. Using molecular, cellular and imaging approaches, we show that these two RNA-binding proteins (RBP) co-repress the translation initiation of Rac1, Map1b and GluR1 mRNAs, and consequently the hippocampal spinogenesis. The co-repression occurs through binding of TDP-43 to mRNA(s) at specific UG/GU sequences and recruitment of the inhibitory CYFIP1-FMRP complex by its glycine-rich domain. This novel regulatory scenario could be utilized to silence a significant portion of around 160 common target mRNAs of the two RBPs. The study establishes a functional/physical partnership between FMRP and TDP-43 that mechanistically links several neurodevelopmental disorders and neurodegenerative diseases.
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9. Shen Y, Oua J, Liu M, Shi L, Li Y, Xiao L, Dong H, Zhang F, Xia K, Zhao J. {{Altered plasma levels of chemokines in autism and their association with social behaviors}}. {Psychiatry Res};2016 (Aug 2);244:300-305.
Autism Spectrum Disorder (ASD) is a group of neurodevelopment disorders with an unclear etiology. Chemokines have been implicated in the etiology and pathogenesis of ASD. The current study investigated the plasma levels of seven chemokines (RANTES, Eotaxin, MIP-1 alpha, MIP-1 beta, MCP-1, IP-10, and MIG) in 42 young autistic patients and 35 age-matched typically developing (TD) children. The study also tested the association between these chemokine levels and social behaviors, as measured by the Social Responsiveness Scale (SRS). Compared to the TD children, RANTES, MIP-1alpha, and MIP-1beta were higher, while IP-10 and MIG were lower in the autistic patients, after correcting for multiple comparisons. Among these seven chemokines, MIP-1alpha, MIP-1beta and IP-10 levels were found to be associated with social behaviors in all the participants. Moreover, MIP-1alpha and IP-10 were found to be independent predictors of social behaviors. The results of our study support the hypothesis that altered chemokine levels are involved in the pathophysiology of ASD and they indicate that chemokines plasma levels could be potential biomarkers for ASD.
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10. Singer AB, Windham GC, Croen LA, Daniels JL, Lee BK, Qian Y, Schendel DE, Fallin MD, Burstyn I. {{Maternal Exposure to Occupational Asthmagens During Pregnancy and Autism Spectrum Disorder in the Study to Explore Early Development}}. {J Autism Dev Disord};2016 (Aug 10)
Maternal immune activity has been linked to children with autism spectrum disorder (ASD). We examined maternal occupational exposure to asthma-causing agents during pregnancy in relation to ASD risk. Our sample included 463 ASD cases and 710 general population controls from the Study to Explore Early Development whose mothers reported at least one job during pregnancy. Asthmagen exposure was estimated from a published job-exposure matrix. The adjusted odds ratio for ASD comparing asthmagen-exposed to unexposed was 1.39 (95 % CI 0.96-2.02). Maternal workplace asthmagen exposure was not associated with ASD risk in this study, but this result does not exclude some involvement of maternal exposure to asthma-causing agents in ASD.
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11. Smallwood M, Sareen A, Baker E, Hannusch R, Kwessi E, Williams T. {{Increased Risk of Autism Development in Children Whose Mothers Experienced Birth Complications or Received Labor and Delivery Drugs}}. {ASN Neuro};2016 (Aug);8(4)
Autism spectrum disorder (ASD) is a perplexing and pervasive developmental disorder characterized by social difficulties, communicative deficits, and repetitive behavior. The increased rate of ASD diagnosis has raised questions concerning the genetic and environmental factors contributing to the development of this disorder; meanwhile, the cause of ASD remains unknown. This study surveyed mothers of ASD and non-ASD children to determine possible effects of labor and delivery (L&D) drugs on the development of ASD. The survey was administered to mothers; however, the results were analyzed by child, as the study focused on the development of autism. Furthermore, an independent ASD dataset from the Southwest Autism Research and Resource Center was analyzed and compared. Indeed, L&D drugs are associated with ASD (p = .039). Moreover, the Southwest Autism Research and Resource Center dataset shows that the labor induction drug, Pitocin, is significantly associated with ASD (p = .004). We also observed a synergistic effect between administrations of L&D drugs and experiencing a birth complication, in which both obstetrics factors occurring together increased the likelihood of the fetus developing ASD later in life (p = .0003). The present study shows the possible effects of L&D drugs, such as Pitocin labor-inducing and analgesic drugs, on children and ASD.
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12. Tseng KC, Tseng SH, Cheng HY. {{Design, development, and clinical validation of therapeutic toys for autistic children}}. {J Phys Ther Sci};2016 (Jul);28(7):1972-1980.
[Purpose] One of the characteristics of autistic children is social interaction difficulties. Although therapeutic toys can promote social interaction, however its related research remains insufficient. The aim of the present study was to build a set of cooperative play toys that are suitable for autistic children. [Subjects and Methods] This study used an innovative product design and development approach as the basis for the creation of cooperative play toys. [Results] The present study has successfully developed cooperative play toys. Compared to the traditional game therapy for autism, cooperative play toy therapy can significantly improve the interactions between autistic children and their peers. [Conclusion] The most critical design theme of cooperative play toys focuses on captivating the interest of autistic children. Based on the needs of the individual cases, the design of the therapeutic toy set was specifically tailored, i.e., by reinforcing the sound and light effects to improve the attractiveness of the toys. In the future, different play modes can be combined with this toy set to further enhance the degree of interaction of autistic children and improve their quality of life and social skills.
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13. Zalla T, Fernandez LG, Pieron M, Seassau M, Leboyer M. {{Reduced saccadic inhibition of return to moving eyes in autism spectrum disorders}}. {Vision Res};2016 (Aug 12);127:115-121.
Inhibition of Return (IOR) refers to slower reaction time to a target presented at the same location as a preceding stimulus. Here, we examine reflexive attention orienting via the saccadic IOR using a shift in gaze direction (i.e. from averted to direct) in faces presented as a peripheral cue, in upright and inverted orientations, in adults with Autism Spectrum Disorder (ASD) and typically developed comparison participants. While both groups showed an IOR in the inverted face condition, this effect was reduced in participants with ASD in the upright face condition, as compared to comparison participants, suggesting that moving eyes do not trigger reflexive exogenous orienting in individuals with ASD. Impaired reflexive orienting to eye gaze might severely compromise the later development of social functions in ASD, such as joint attention, face emotion recognition and mindreading.
