1. Bozzetti MP, Specchia V, Cattenoz P, Laneve P, Geusa A, Sahin HB, Di Tommaso S, Friscini A, Massari S, Diebold C, Giangrande A. {{The Drosophila Fragile X Mental Retardation Protein participates in the piRNA pathway}}. {J Cell Sci};2015 (Apr 23)
RNA metabolism controls multiple biological processes and a specific class of small RNAs, called piRNAs, act as genome guardians by silencing the expression of transposons and repetitive sequences in the gonads. Defects in the piRNA pathway affect genome integrity and fertility. The possible implications in physiopathological mechanisms of human diseases have made the piRNA pathway the object of intense investigation and recent work calls for a role of this pathway in somatic processes including synaptic plasticity. The RNA-binding Fragile X Mental Retardation Protein (FMRP) controls translation and its loss triggers the most frequent syndromic form of mental retardation as well as gonadal defects in humans. We here demonstrate for the first time that germline as well as somatic expression of dFmr1, the Drosophila ortholog of FMRP, are necessary in a pathway mediated by piRNAs. Moreover, dFmr1 interacts genetically and biochemically with Aubergine, an Argonaute protein and a key player in this pathway. Our data open novel perspectives for understanding the phenotypes observed in Fragile X patients and support the view that piRNAs may be at work in the nervous system.
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2. Chakraborty A, Chakrabarti B. {{Is it me? Self-recognition bias across sensory modalities and its relationship to autistic traits}}. {Mol Autism};2015;6:20.
BACKGROUND: Atypical self-processing is an emerging theme in autism research, suggested by lower self-reference effect in memory, and atypical neural responses to visual self-representations. Most research on physical self-processing in autism uses visual stimuli. However, the self is a multimodal construct, and therefore, it is essential to test self-recognition in other sensory modalities as well. Self-recognition in the auditory modality remains relatively unexplored and has not been tested in relation to autism and related traits. This study investigates self-recognition in auditory and visual domain in the general population and tests if it is associated with autistic traits. METHODS: Thirty-nine neurotypical adults participated in a two-part study. In the first session, individual participant’s voice was recorded and face was photographed and morphed respectively with voices and faces from unfamiliar identities. In the second session, participants performed a ‘self-identification’ task, classifying each morph as ‘self’ voice (or face) or an ‘other’ voice (or face). All participants also completed the Autism Spectrum Quotient (AQ). For each sensory modality, slope of the self-recognition curve was used as individual self-recognition metric. These two self-recognition metrics were tested for association between each other, and with autistic traits. RESULTS: Fifty percent ‘self’ response was reached for a higher percentage of self in the auditory domain compared to the visual domain (t = 3.142; P < 0.01). No significant correlation was noted between self-recognition bias across sensory modalities (tau = -0.165, P = 0.204). Higher recognition bias for self-voice was observed in individuals higher in autistic traits (tau AQ = 0.301, P = 0.008). No such correlation was observed between recognition bias for self-face and autistic traits (tau AQ = -0.020, P = 0.438). CONCLUSIONS: Our data shows that recognition bias for physical self-representation is not related across sensory modalities. Further, individuals with higher autistic traits were better able to discriminate self from other voices, but this relation was not observed with self-face. A narrow self-other overlap in the auditory domain seen in individuals with high autistic traits could arise due to enhanced perceptual processing of auditory stimuli often observed in individuals with autism.
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3. Hara Y, Takuma K, Takano E, Katashiba K, Taruta A, Higashino K, Hashimoto H, Ago Y, Matsuda T. {{Reduced prefrontal dopaminergic activity in valproic acid-treated mouse autism model}}. {Behav Brain Res};2015 (Apr 20)
Previous studies suggest that dysfunction of neurotransmitter systems is associated with the pathology of autism in humans and the disease model rodents, but the precise mechanism is not known. Rodent offspring exposed prenatally to VPA shows autism-related behavioral abnormalities. The present study examined the effect of prenatal VPA exposure on brain monoamine neurotransmitter systems in male and female mice. The prenatal VPA exposure did not affect the levels of dopamine (DA), noradrenaline (NA), serotonin (5-HT) and their metabolites in the prefrontal cortex and striatum, while it significantly reduced methamphetamine (METH) (1.0mg/kg)-induced hyperlocomotion in male offspring. In vivo microdialysis study demonstrated that prenatal VPA exposure attenuated METH-induced increases in extracellular DA levels in the prefrontal cortex, while it did not affect those in extracellular NA and 5-HT levels. Prenatal VPA exposure also decreased METH-induced c-Fos expression in the prefrontal cortex and the mRNA levels of DA D1 and D2 receptors in the prefrontal cortex. These effects of VPA were not observed in the striatum. In contrast to male offspring, prenatal VPA exposure did not affect METH-induced increase in locomotor activity and prefrontal DA levels and the D1 and D2 receptor mRNA levels in the prefrontal cortex in female offspring. These findings suggest that prenatal VPA exposure causes hypofunction of prefrontal DA system in a sex-dependent way.
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4. Huang SF, Oi M, Taguchi A. {{Comprehension of figurative language in Taiwanese children with autism: The role of theory of mind and receptive vocabulary}}. {Clin Linguist Phon};2015 (Apr 24):1-12.
First-order theory of mind (ToM) is necessary for comprehension of metaphors, and second-order ToM is necessary for comprehension of irony. This study investigated the role of ToM and language ability in comprehending figurative language in 50 Taiwanese children with high-functioning autism spectrum disorders (HFASDs) compared with 50 typically developing children. Results showed that the No-ToM HFASDs group performed worse than the first-order ToM HFASDs group and the second-order ToM HFASDs group in comprehension of metaphors, irony, sarcasm and indirect reproach, but not for indirect request. Receptive vocabulary correlated only with metaphor comprehension. The volatility of results seen among studies in terms of the relationship between ToM and figurative language comprehension is discussed.
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5. Kreibich SR, Chen M, Reichle J. {{Teaching a Child with Autism to Request Breaks While Concurrently Increasing Task Engagement}}. {Lang Speech Hear Serv Sch};2015 (Apr 22)
Purpose: An intervention package including teaching break requests and tolerance for delay in reinforcement delivery (TFD) to increase task engagement was implemented with a 4-year-old child with an ASD who did not engage for a duration commensurate with IEP team expectations. Method: A multiple-probe design across tasks was implemented. Dependent measures taken included engagement duration and the production of spoken break requests after work completion. Intervention was implemented with tasks involving short periods of engagement prior to the learner’s disengagement. The possibility of the learner’s overgeneralized production of break requests with tasks originally associated with longer engagement was also examined. Results: The participant learned to request breaks in short engagement tasks. Additionally, engagement increased dramatically without off-task behavior. Overgeneralized use of break requests with long engagement tasks did not occur. Generalization of break requests to untrained short engagement tasks that were not the focus of intervention (but were associated with escape and short engagement) did not occur until the intervention package was implemented. Conclusions: The combination of teaching break requests and TFD was effective in addressing problem behavior. Implications for enhancing properly generalized and moderated use of break requests across different tasks or contexts are discussed.
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6. Rollins PR, Campbell M, Hoffman RT, Self K. {{A community-based early intervention program for toddlers with autism spectrum disorders}}. {Autism};2015 (Apr 23)
This study examined Pathways Early Autism Intervention, a community-based, parent-mediated, intensive behavioral and developmental intervention program for children with autism spectrum disorders that could be used as a model for state-funded early intervention programs. A single-subject, multiple-baseline, across-participants design was used. Four boys with autism spectrum disorder and their mothers participated. Interventionists made weekly home visits and worked with caregivers to establish and maintain face-to-face reciprocal social interaction and eye contact. Each session included a 10-min video of parent-child interaction. Evidence of intervention effectiveness was measured by percentage of nonoverlapping data points. Social validity was measured using questionnaire items in regard to parents’ perception of the intervention. The intervention was effective for the measures of eye contact, social engagement, and verbal reciprocity but not for nonverbal turn taking. Parents perceived the intervention as beneficial and easy to learn and incorporate into daily life.
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7. Segal NL. {{Centenary Celebration for Scottish Missionary Mary Slessor: A Lasting Legacy for Twins/Twin Research: Twins With Kleinfelter’s Syndrome; Twin Research on Atopic Diseases; Twin Study of Autism; Psychotherapy with Twins / General Interest: Female Twin Pole-Vaulters; Longest Twin Birth Interval; Pair of Franco-Cuban Vocalists; Croatian Twin Models}}. {Twin Res Hum Genet};2015 (Apr 24):1-6.
