Pubmed du 06/12/14

Pubmed du jour

2014-12-06 12:03:50

1. Casanova EL, Casanova MF. {{Genetics studies indicate that neural induction and early neuronal maturation are disturbed in autism}}. {Front Cell Neurosci}. 2014; 8: 397.

Postmortem neuropathological studies of autism consistently reveal distinctive types of malformations, including cortical dysplasias, heterotopias, and various neuronomorphometric abnormalities. In keeping with these observations, we review here that 88% of high-risk genes for autism influence neural induction and early maturation of the neuroblast. In addition, 80% of these same genes influence later stages of differentiation, including neurite and synapse development, suggesting that these gene products exhibit long-lasting developmental effects on cell development as well as elements of redundancy in processes of neural proliferation, growth, and maturation. We also address the putative genetic overlap of autism with conditions like epilepsy and schizophrenia, with implications to shared and divergent etiologies. This review imports the necessity of a frameshift in our understanding of the neurodevelopmental basis of autism to include all stages of neuronal maturation, ranging from neural induction to synaptogenesis.

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2. Costescu CA, Vanderborght B, David DO. {{Reversal Learning Task in Children with Autism Spectrum Disorder: A Robot-Based Approach}}. {J Autism Dev Disord}. 2014.

Children with autism spectrum disorder (ASD) engage in highly perseverative and inflexible behaviours. Technological tools, such as robots, received increased attention as social reinforces and/or assisting tools for improving the performance of children with ASD. The aim of our study is to investigate the role of the robotic toy Keepon in a cognitive flexibility task performed by children with ASD and typically developing (TD) children. The number of participants included in this study is 81 children: 40 TD children and 41 children with ASD. Each participant had to go through two conditions: robot interaction and human interaction in which they had performed the reversal learning task. Our primary outcomes are the number of errors from acquisition phase and from reversal phase of the task; as secondary outcomes we have measured attentional engagement and positive affect. The results of this study showed that children with ASD are more engaged in the task and they seem to enjoy more the task when interacting with the robot compared with the interaction with the adult. On the other hand their cognitive flexibility performance is, in general, similar in the robot and the human conditions with the exception of the learning phase where the robot can interfere with the performance. Implication for future research and practice are discussed.

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3. de Bruin EI, Graham JH, Louwerse A, Huizink AC. {{Mild Dermatoglyphic Deviations in Adolescents with Autism Spectrum Disorders and Average Intellectual Abilities as Compared to Typically Developing Boys}}. {Autism Res Treat}. 2014; 2014: 968134.

Dermatoglyphics, ridge constellations on the hands and feet, are permanently formed by the second trimester of pregnancy. Consequently, they are considered « fossilized » evidence of a specific prenatal period. A high frequency of dermatoglyphic anomalies, or a high rate of dermatoglyphic asymmetry (discordance), is an indication of developmental instability (prenatal disturbances) prior to 24-week gestation. Most dermatoglyphic studies in psychiatry focus on adult schizophrenia. Studies on dermatoglyphic deviances and autism are sparse, include severely disturbed and intellectually retarded patients with autism, and are carried out mainly in non-Western European populations. In this study, finger print patterns, atd-angles, and palmar flexion crease patterns (PFCs) are compared between Western European adolescent teenage males, of average intellect, with Autism Spectrum Disorders (ASD; n = 46) and typically developing adolescent teenage males (TD; n = 49). Boys with ASD had a higher rate of discordance in their finger print patterns than TD boys. Thus, the hypothesized prenatal disturbances that play a role in the etiology of schizophrenia and severe autism might not be specific to these severe psychiatric disorders but might also be involved in the etiology of varying degrees of ASD.

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4. De Pablo-Fernandez E, Doherty KM, Holton JL, Revesz T, Djamshidian A, Limousin P, Bhatia KP, Warner TT, Lees AJ, Ling H. {{Concomitant fragile X-associated tremor ataxia syndrome and Parkinson’s disease: a clinicopathological report of two cases}}. {J Neurol Neurosurg Psychiatry}. 2014.

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5. Garg S, Plasschaert E, Descheemaeker MJ, Huson S, Borghgraef M, Vogels A, Evans DG, Legius E, Green J. {{Autism Spectrum Disorder Profile in Neurofibromatosis Type I}}. {J Autism Dev Disord}. 2014.

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40 %. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4-16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills.

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6. Guy A, Seaton SE, Boyle EM, Draper ES, Field DJ, Manktelow BN, Marlow N, Smith LK, Johnson S. {{Infants Born Late/Moderately Preterm Are at Increased Risk for a Positive Autism Screen at 2 Years of Age}}. {J Pediatr}. 2014.

OBJECTIVES: To assess the prevalence of positive screens using the Modified Checklist for Autism in Toddlers (M-CHAT) questionnaire and follow-up interview in late and moderately preterm (LMPT; 32-36 weeks) infants and term-born controls. STUDY DESIGN: Population-based prospective cohort study of 1130 LMPT and 1255 term-born infants. Parents completed the M-CHAT questionnaire at 2-years corrected age. Parents of infants with positive questionnaire screens were followed up with a telephone interview to clarify failed items. The M-CHAT questionnaire was re-scored, and infants were classified as true or false positives. Neurosensory, cognitive, and behavioral outcomes were assessed using parent report. RESULTS: Parents of 634 (57%) LMPT and 761 (62%) term-born infants completed the M-CHAT questionnaire. LMPT infants had significantly higher risk of a positive questionnaire screen compared with controls (14.5% vs 9.2%; relative risk [RR] 1.58; 95% CI 1.18, 2.11). After follow-up, significantly more LMPT infants than controls had a true positive screen (2.4% vs 0.5%; RR 4.52; 1.51, 13.56). This remained significant after excluding infants with neurosensory impairments (2.0% vs 0.5%; RR 3.67; 1.19, 11.3). CONCLUSIONS: LMPT infants are at significantly increased risk for positive autistic screen. An M-CHAT follow-up interview is essential as screening for autism spectrum disorders is especially confounded in preterm populations. Infants with false positive screens are at risk for cognitive and behavioral problems.

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7. Heyn PC, Baumgardner CA, McLachlan L, Bodine C. {{Mixed-Reality Exercise Effects on Participation of Individuals with Spinal Cord Injuries and Developmental Disabilities: A Pilot Study}}. {Top Spinal Cord Inj Rehabil}. 2014; 20(4): 338-45.

OBJECTIVE: The purpose of this pilot study was to investigate the effectiveness of a mixed-reality (MR) exercise environment on engagement and enjoyment levels of individuals with spinal cord injury (SCI) and intellectual and developmental disabilities (IDD). METHODS: Six people participated in this cross-sectional, observational pilot study involving one MR exercise trial. The augmented reality environment was based on a first-person perspective video of a scenic biking/walking trail in Colorado. Males and females (mean age, 43.3 +/- 13.7 years) were recruited from a research database for their participation in previous clinical studies. Of the 6 participants, 2 had SCI, 2 had IDD, and 2 were without disability. The primary outcome measurement of this pilot study was the self-reported engagement and enjoyment level of each participant after the exercise trial. RESULTS: All participants reported increased levels of engagement, enjoyment, and immersion involving the MR exercise environment as well as positive feedback recommending this type of exercise approach to peers with similar disabilities. All the participants reported higher than normal levels of enjoyment and 66.7% reported higher than normal levels of being on a real trail. CONCLUSION: Participants’ feedback suggested that the MR environment could be entertaining, motivating, and engaging for users with disabilities, resulting in a foundation for further development of this technology for use in individuals with cognitive and physical disabilities.

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8. Idring S, Lundberg M, Sturm H, Dalman C, Gumpert C, Rai D, Lee BK, Magnusson C. {{Changes in Prevalence of Autism Spectrum Disorders in 2001-2011: Findings from the Stockholm Youth Cohort}}. {J Autism Dev Disord}. 2014.

In a record-linkage study in Stockholm, Sweden, the year 2011 prevalence of diagnosed autism spectrum disorders (ASD) was found to be 0.40, 1.74, 2.46, and 1.76 % among 0-5, 6-12, 13-17, and 18-27 year olds, respectively. The corresponding proportion of cases with a recorded diagnosis of intellectual disability was 17.4, 22.1, 26.1 and 29.4 %. Between 2001 and 2011, ASD prevalence increased almost 3.5 fold among children aged 2-17 years. The increase was mainly accounted for by an eightfold increase of ASD without intellectual disability (from 0.14 to 1.10 %), while the prevalence of ASD with intellectual disability increased only slightly (from 0.28 to 0.34 %). The increase in ASD prevalence is likely contributed to by extrinsic factors such as increased awareness and diagnostics.

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9. Laugeray A, Herzine A, Perche O, Hebert B, Aguillon-Naury M, Richard O, Menuet A, Mazaud-Guittot S, Lesne L, Briault S, Jegou B, Pichon J, Montecot-Dubourg C, Mortaud S. {{Pre- and Postnatal Exposure to Low Dose Glufosinate Ammonium Induces Autism-Like Phenotypes in Mice}}. {Front Behav Neurosci}. 2014; 8: 390.

Glufosinate ammonium (GLA) is one of the most widely used herbicides in agriculture. As is the case for most pesticides, potential adverse effects of GLA have not been studied from the perspective of developmental neurotoxicity. Early pesticides exposure may weaken the basic structure of the developing brain and cause permanent changes leading to a wide range of lifelong effects on health and/or behavior. Here, we addressed the developmental impact of GLA by exposing female mice to low dose GLA during both pre- and postnatal periods and analyzed potential developmental and behavioral changes of the offspring during infancy and adulthood. A neurobehavioral test battery revealed significant effects of GLA maternal exposure on early reflex development, pup communication, affiliative behaviors, and preference for social olfactory cues, but emotional reactivity and emotional memory remained unaltered. These behavioral alterations showed a striking resemblance to changes seen in animal models of Autistic Spectrum Disorders. At the brain level, GLA maternal exposure caused some increase in relative brain weight of the offspring. In addition, reduced expression of Pten and Peg3 – two genes implicated in autism-like deficits – was observed in the brain of GLA-exposed pups at postnatal day 15. Our work thus provides new data on the link between pre- and postnatal exposure to the herbicide GLA and the onset of autism-like symptoms later in life. It also raises fundamental concerns about the ability of current safety testing to assess risks of pesticide exposure during critical developmental periods.

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10. Shire SY, Goods K, Shih W, Distefano C, Kaiser A, Wright C, Mathy P, Landa R, Kasari C. {{Parents’ Adoption of Social Communication Intervention Strategies: Families Including Children with Autism Spectrum Disorder Who are Minimally Verbal}}. {J Autism Dev Disord}. 2014.

Notably absent from the intervention literature are parent training programs targeting school-aged children with autism who have limited communication skills (Tager-Flusberg and Kasari in Autism Res 6:468-478, 2013). Sixty-one children with autism age 5-8 with minimal spontaneous communication received a 6-month social communication intervention including parent training. Parent-child play interactions were coded for parents’ strategy implementation and children’s time jointly engaged (Adamson et al. in J Autism Dev Disord 39:84-96, 2009). Parents mastered an average of 70 % of the strategies. Further analyses indicated some gains in implementation occurred from mere observation of sessions, while the greatest gains occurred in the first month of active coaching and workshops. Children’s joint engagement was associated with parents’ implementation success across time demonstrating parents’ implementation was relevant to children’s social engagement.

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