1. Berzhanskaya J, Phillips MA, Shen J, Colonnese MT. {{Erratum: Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome}}. {Sci Rep};2017 (Mar 15);7:44515.
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2. Hurtubise K, Carpenter C. {{Learning Experiences and Strategies of Parents of Young Children with Developmental Disabilities: Implications for Rehabilitation Professionals}}. {Phys Occup Ther Pediatr};2017 (Mar 15):1-14.
AIM: To better understand the learning experiences of parents of children with developmental disabilities and the strategies they develop to support their caregiving role. METHODS: A qualitative secondary analysis of in-depth interviews with parents of children with developmental disability was conducted to better understand parents’ learning experiences and the strategies they developed to use this learning in supporting their children. A foundational thematic analysis process was used to identify the main themes, and the interpretive process was influenced by adult education theories. RESULTS: Findings suggest that participants are highly motivated to learn by a need to understand, to do, and to belong. They also demonstrated varying levels of cognitive, affective, and psychomotor learning. Learning style preferences are evident in participants’ narratives and in their self-reported learning strategies. CONCLUSIONS: Conceptualizing parents, as adult learners, can be helpful in designing clinical interactions and education initiatives. Knowledge of adult learning principles may enable pediatric therapists to better meet the needs of parents and fulfill their information sharing responsibilities.
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3. Krishnan V, Stoppel DC, Nong Y, Johnson MA, Nadler MJ, Ozkaynak E, Teng BL, Nagakura I, Mohammad F, Silva MA, Peterson S, Cruz TJ, Kasper EM, Arnaout R, Anderson MP. {{Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1}}. {Nature};2017 (Mar 15)
Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase with transcriptional co-regulatory functions. Here, using in vivo mouse genetics, we show that increasing UBE3A in the nucleus downregulates the glutamatergic synapse organizer Cbln1, which is needed for sociability in mice. Epileptic seizures also repress Cbln1 and are found to expose sociability impairments in mice with asymptomatic increases in UBE3A. This Ube3a-seizure synergy maps to glutamate neurons of the midbrain ventral tegmental area (VTA), where Cbln1 deletions impair sociability and weaken glutamatergic transmission. We provide preclinical evidence that viral-vector-based chemogenetic activation of, or restoration of Cbln1 in, VTA glutamatergic neurons reverses the sociability deficits induced by Ube3a and/or seizures. Our results suggest that gene and seizure interactions in VTA glutamatergic neurons impair sociability by downregulating Cbln1, a key node in the expanding protein interaction network of autism genes.
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4. MacFarlane H, Gorman K, Ingham R, Presmanes Hill A, Papadakis K, Kiss G, van Santen J. {{Quantitative analysis of disfluency in children with autism spectrum disorder or language impairment}}. {PLoS One};2017;12(3):e0173936.
Deficits in social communication, particularly pragmatic language, are characteristic of individuals with autism spectrum disorder (ASD). Speech disfluencies may serve pragmatic functions such as cueing speaking problems. Previous studies have found that speakers with ASD differ from typically developing (TD) speakers in the types and patterns of disfluencies they produce, but fail to provide sufficiently detailed characterizations of the methods used to categorize and quantify disfluency, making cross-study comparison difficult. In this study we propose a simple schema for classifying major disfluency types, and use this schema in an exploratory analysis of differences in disfluency rates and patterns among children with ASD compared to TD and language impaired (SLI) groups. 115 children ages 4-8 participated in the study (ASD = 51; SLI = 20; TD = 44), completing a battery of experimental tasks and assessments. Measures of morphological and syntactic complexity, as well as word and disfluency counts, were derived from transcripts of the Autism Diagnostic Observation Schedule (ADOS). High inter-annotator agreement was obtained with the use of the proposed schema. Analyses showed ASD children produced a higher ratio of content to filler disfluencies than TD children. Relative frequencies of repetitions, revisions, and false starts did not differ significantly between groups. TD children also produced more cued disfluencies than ASD children.
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5. Melancia F, Servadio M, Schiavi S, Campolongo P, Giusti-Paiva A, Trezza V. {{Testing the correlation between experimentally-induced hypothyroidism during pregnancy and autistic-like symptoms in the rat offspring}}. {Behav Brain Res};2017 (Mar 15);321:113-122.
Thyroid hormones are important for the development of the central nervous system. Since the fetal thyroid gland is not functioning until mid-gestation, transport of maternal thyroid hormones across the placenta is essential during the early phases of gestation. Maternal thyroid deficiency has been associated with a higher incidence of neurodevelopmental disorders in the newborns. The relationship between maternal hypothyroidism and the onset of autism spectrum disorders (ASD) in the offspring, however, is still debated. To address this issue, we used a validated animal model of prenatal hypothyroidism based on the administration of the thyroid peroxidase inhibitor methimazole (MMI, 0.02g/100ml in tap water) to rat dams from gestational day 9 up to delivery. The offspring was tested in behavioral tasks during infancy (PNDs 5, 9, 13) and adolescence (PND 35-40) to capture some of the core and associated symptoms of ASD. MMI-exposed pups were able to vocalize as controls when separated from the nest, and showed intact social discrimination abilities in the homing behavior test. At adolescence, the offspring from both sexes did not show an anxious-phenotype in the elevated plus maze and showed intact object recognition. However, MMI-exposed male rats showed increased novelty-directed exploratory behaviors: they solicited their partner to play more and showed more interest for novel rather than familiar objects compared to control rats. Our results show that prenatal MMI-induced hypothyroidism does not cause in the rat offspring behaviors that resemble core and associated ASD symptoms, like deficits in communication and social interaction and anxiety.
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6. Mouridsen SE, Rich B, Isager T. {{Eye Disorders among Adult People Diagnosed with Infantile Autism in Childhood: A Longitudinal Case Control Study}}. {Ophthalmic Epidemiol};2017 (Mar 15):1-4.
PURPOSE: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population. METHODS: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period. RESULTS: The overall prevalence of any eye disorder was 15.3% (18/118) in cases with IA, compared to 10.1% (34/336) in controls (p = 0.18). Refraction and accommodation disorders were significantly associated with IA: 7.6% (9/118) vs 1.2% (4/336) (p = 0.001). The rate of eye disorder was particularly high (24.5%) in those with a co-occurring profound or severe learning disability (IQ < 50). CONCLUSIONS: Refraction and accommodation disorders were more frequently present in Danish adults with IA, particularly when a profound or severe learning disability was co-present. The increased prevalence of eye disorders in participants with a severe or profound learning disability, and the fact that people with IA do not necessarily realize the presence of a vision deficit, necessitates increased ophthalmological attention. Lien vers le texte intégral (Open Access ou abonnement)
7. Naguy A. {{Successful Use of Sertindole for Severe Behavioral Dyscontrol in a Pediatric Case of Syndromic Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2017 (Mar 15)
Autism spectrum disorder (ASD) is commonly associated with a host of challenging behaviors. Pharmacotherapy is indicated if psychosocial and educational interventions fail. Atypical antipsychotics have the strongest evidence base so far, with both risperidone and aripiprazole being FDA approved. Unfortunately, their use is fraught with metabolic and neurohormonal side effects. In this study, the author is reporting on a case of syndromic ASD/moderate intellectual disability with severe behavioral component that failed multiple psychotropic trials and ultimately responded dramatically to sertindole. Sertindole reversed metabolic derangements and was highly tolerated. This is one of earliest cases to report use of sertindole in autism. This might open new venues in such complicated cases.
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8. Nathenson RA, Zablotsky B. {{The Transition to the Adult Health Care System Among Youths With Autism Spectrum Disorder}}. {Psychiatr Serv};2017 (Mar 15):appips201600239.
OBJECTIVE: The study examined how health care utilization patterns among youths with autism spectrum disorder (ASD) change as they transition into the adult health care system. METHODS: Data came from the Clinformatics Data Mart Database, a nationally diverse, clinically rich, private insurance claims database. The analytic sample consisted of youths ages 16 to 23 who were diagnosed as having ASD (N=16,338). Cross-sectional multivariate linear regressions determined whether service usage in home, office or outpatient, inpatient, and emergency department (ED) settings differed by age. RESULTS: The proportion of youths with ASD who received services declined with age in each setting except the ED. A similar reduction existed in number of visits to office or outpatient settings and inpatient settings, while home and ED visits remained stable. Service utilization declined faster among youths with co-occurring intellectual disability. CONCLUSIONS: There is a notable decline in service utilization across multiple settings as youths with ASD transition from pediatric to adult health care.
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9. Wu H, Wang X, Gao J, Liang S, Hao Y, Sun C, Xia W, Cao Y, Wu L. {{Fingolimod (FTY720) attenuates social deficits, learning and memory impairments, neuronal loss and neuroinflammation in the rat model of autism}}. {Life Sci};2017 (Mar 15);173:43-54.
AIMS: To investigate the effect of FTY720 on the valproic acid (VPA) rat model of autism. MAIN METHODS: As an animal model of autism, we used intraperitoneal injection of VPA on embryonic day 12.5 in Wistar rats. The pups were given FTY720 orally at doses of 0.25, 0.5 and 1mg/kg daily from postnatal day 15 to 35. Social behavior, spatial learning and memory were assessed at the end of FTY720 treatment. The histological change, oxidative stress, neuroinflammatory responses, and apoptosis-related proteins in the hippocampus were evaluated. KEY FINDINGS: FTY720 (1mg/kg) administration to VPA-exposed rats (1) improved social behavior, spatial learning and memory impairment; (2) resulted in a reduction in neuronal loss and apoptosis of pyramidal cells in hippocampal CA1 regions; (3) inhibited activation of microglial cells, in turn lowering the level of pro-inflammatory cytokines interleukin-1beta (IL-1beta) and IL-6 in the hippocampus; (4) changed Malondialdehyde (MDA) levels, Glutathione (GSH) levels, superoxide dismutase (SOD) activity and Glutathione Peroxidase (GSH-Px) activity in the hippocampus; (6) inhibited the elevated Bax and caspase-3 protein levels and enhanced the relative expression level of Bcl-2 in the hippocampus; and (7) increased phospho-Ca2+/calmodulin-dependent protein kinase II (p-CaMKII), phospho-cAMP-response element binding protein (p-CREB) and Brain Derived Neurotrophic Factor (BDNF) protein expression in the hippocampus. SIGNIFICANCE: FTY720 rescues social deficit, spatial learning and memory impairment in VPA-exposed rats. FTY720 exerts both a direct protection for neurons and an indirect modulation of inflammation-mediated neuron loss as a possible mechanism of neuroprotection.
