1. Burrows EL, Laskaris L, Koyama L, Churilov L, Bornstein JC, Hill-Yardin EL, Hannan AJ. {{A neuroligin-3 mutation implicated in autism causes abnormal aggression and increases repetitive behavior in mice}}. {Mol Autism};2015;6:62.
BACKGROUND: Aggression is common in patients with autism spectrum disorders (ASD) along with the core symptoms of impairments in social communication and repetitive behavior. Risperidone, an atypical antipsychotic, is widely used to treat aggression in ASD. In order to understand the neurobiological underpinnings of these challenging behaviors, a thorough characterisation of behavioral endophenotypes in animal models is required. METHODS: We investigated aggression in mice containing the ASD-associated R451C (arginine to cysteine residue 451 substitution) mutation in neuroligin-3 (NL3). Furthermore, we sought to verify social interaction impairments and assess olfaction, anxiety, and repetitive and restrictive behavior in NL3R451C mutant mice. RESULTS: We show a pronounced elevation in aggressive behavior in NL3R451C mutant mice. Treatment with risperidone reduced this aggression to wild-type (WT) levels. Juvenile and adult social interactions were also investigated, and subtle differences in initiation of interaction were seen in juvenile NL3R451C mice. No genotype differences in olfactory discrimination or anxiety were observed indicating that aggression was not dependent on altered olfaction, stress response, or social preference. We also describe repetitive behavior in NL3R451C mice as assessed by a clinically relevant object exploration task. CONCLUSIONS: The presence of aberrant aggression and other behavioral phenotypes in NL3R451C mice consistent with clinical traits strengthen face validity of this model of ASD. Furthermore, we demonstrate predictive validity in this model through the reversal of the aggressive phenotype with risperidone. This is the first demonstration that risperidone can ameliorate aggression in an animal model of ASD and will inform mechanistic and therapeutic research into the neurobiology underlying abnormal behaviors in ASD.
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2. Ekman E, Hiltunen AJ. {{Modified CBT using visualization for Autism Spectrum Disorder (ASD), anxiety and avoidance behavior – a quasi-experimental open pilot study}}. {Scand J Psychol};2015 (Dec);56(6):641-648.
In recent studies it has been suggested that Cognitive Behavior Therapy (CBT) is beneficial to people with Autism Spectrum Disorder (ASD) but that the method needs to be modified in relation to their cognitive profile. The aim of this study is to measure the effect of modified CBT, that is, using visualized language throughout the entire session for clients with ASD and anxiety and avoidance behavior. The modification of CBT in this study consists of focusing on CBT protocols for anxiety disorders and depression, while visualizing and systematizing « the invisible » in the conversation, in order for the clients to understand the social, cognitive and emotional context of self and others and how they should interact to avoid misunderstandings. ASD clients may need help to detect the invisible code of social interaction and communication. The level of anxiety and the frequency of target behavior were measured. Four assessments were made, two at the pre-assessment, and one in mid-therapy and end of therapy respectively. Generally, results suggest no improvement during pre-treatment period but a significant improvement during treatment. The values of the clients’ psychological, social and occupational ability to function improved on the Global Function Rating scale. The preliminary conclusion of this pilot study indicates that the use of visualized language throughout the CBT therapy sessions is a promising modification of current CBT protocols for individuals with ASD. After manualization, larger studies with randomized controlled study designs can replicate or challenge these results.
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3. Lajonchere CM, Wheeler BY, Valente TW, Kreutzer C, Munson A, Narayanan S, Kazemzadeh A, Cruz R, Martinez I, Schrager SM, Schweitzer L, Chklovski T, Hwang D. {{Strategies for Disseminating Information on Biomedical Research on Autism to Hispanic Parents}}. {J Autism Dev Disord};2015 (Nov 12)
Low income Hispanic families experience multiple barriers to accessing evidence-based information on Autism Spectrum Disorders (ASD). This study utilized a mixed-strategy intervention to create access to information in published bio-medical research articles on ASD by distilling the content into parent-friendly English- and Spanish-language ASD Science Briefs and presenting them to participants using two socially-oriented dissemination methods. There was a main effect for short-term knowledge gains associated with the Science Briefs but no effect for the dissemination method. After 5 months, participants reported utilizing the information learned and 90 % wanted to read more Science Briefs. These preliminary findings highlight the potential benefits of distilling biomedical research articles on ASD into parent-friendly educational products for currently underserved Hispanic parents.
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4. Li J, You Y, Yue W, Jia M, Yu H, Lu T, Wu Z, Ruan Y, Wang L, Zhang D. {{Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population}}. {PLoS One};2015;10(11):e0142887.
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders. Recent studies suggested that calcium channel genes might be involved in the genetic etiology of ASD. CACNA1A, encoding an alpha-1 subunit of voltage-gated calcium channel, has been reported to play an important role in neural development. Previous study detected that a single nucleotide polymorphism (SNP) in CACNA1A confers risk to ASD in Central European population. However, the genetic relationship between autism and CACNA1A in Chinese Han population remains unclear. To explore the association of CACNA1A with autism, we performed a family-based association study. First, we carried out a family-based association test between twelve tagged SNPs and autism in 239 trios. To further confirm the association, the sample size was expanded to 553 trios by recruiting 314 additional trios. In a total of 553 trios, we identified association of rs7249246 and rs12609735 with autism though this would not survive after Bonferroni correction. Our findings suggest that CACNA1A might play a role in the etiology of autism.
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5. Nazareth T, Li N, Marynchenko M, Zhou Z, Chopra P, Signorovitch J, Wu E, Ahmed S, Marvel J, Sasane R. {{Burden of Illness among Patients with Fragile X Syndrome (FXS): A Medicaid Perspective}}. {Curr Med Res Opin};2015 (Nov 13):1-47.
BACKGROUND: Fragile X Syndrome (FXS) is an inherited intellectual disability that imposes a substantial clinical and humanistic burden on patients and caregivers. This study aimed to quantify the incremental burden of illness following FXS diagnosis in Medicaid populations. METHODS: A retrospective matched-cohort study was conducted using FL, NJ, MO, IA, and KS Medicaid claims (1997-2012). Patients with FXS were matched 1:5 to a comparison group without FXS, based on age, gender, state, and continuous Medicaid coverage. Healthcare resource utilization and costs were compared among cohorts over 1 year following first diagnosis. RESULTS: Overall, 697 patients with FXS were matched to 3,485 non-FXS patients. Median age was 12.0 years; 82% were male. Newly diagnosed FXS patients were younger (median age: 7.0 years). During the follow-up, patients with FXS had significantly higher medication use, medical procedure use, medical specialist visits, and associated costs than the non-FXS comparison group. One-fourth of FXS patients filled prescriptions for stimulants, antipsychotics, or anticonvulsants; 25% of patients with FXS had speech and language therapy and 39% had physical therapy (versus 9%, 4% and 8%, respectively, for the comparison group). At least 44% of FXS patients visited a neurologist, cardiologist, otolaryngologist, or gastroenterologist; 92% of patients with FXS had an outpatient visit, 35% had an emergency room visit, and 34% used home services (compared to 31%-32%, 64%, 27%, and 10%, respectively, for the comparison group) (all p<0.05). Patients with FXS had an incremental annual total healthcare cost of $33,409 (2012$) per person relative to the comparison group, while newly diagnosed FXS patients had incremental total annual healthcare costs of $17,617 (2012$) per person. CONCLUSIONS: Both established and newly diagnosed FXS were associated with significantly increased use of multiple medications and medical services, and increased healthcare costs. Treatments that could help reduce this disease burden are urgently needed. Lien vers le texte intégral (Open Access ou abonnement)
6. Nikolaou KN, Gournellis R, Michopoulos I, Dervenoulas G, Christodoulou C, Douzenis A. {{Neurotoxic syndrome induced by clomipramine plus risperidone in a patient with autistic spectrum disorder: serotonin or neuroleptic malignant syndrome?}}. {Ann Gen Psychiatry};2015;14:38.
To the best of our knowledge, there are no case studies of serotonin syndrome (SS) in patients with autism spectrum disorder. We report the case of a 33-year-old male who presented SS under the combined use of clomipramine and risperidone. More specifically, within 2 days after clomipramine (10 mg/BID-two times a day) was added to risperidone (4 mg/OD-once a day), mirtazapine 45 mg/OD and alprazolam (0,5 mg/TID-three times a day) he began to present mental, neurological and autonomic symptoms. All his psychopathological manifestations and laboratory findings normalized after the above-mentioned drugs’ discontinuation, and the administration of supportive medical care and lorazepam 2,5 mg/TID. The diagnosis of serotonin syndrome was challenging due to the relatively low dose of clomipramine, an increase of risperidone which had taken place before clomipramine administration and clinical symptoms which could be attributed to both serotonin and neuroleptic malignant syndrome.
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7. Primeau M, Gershon A, Talbot L, Cotto I, Lotspeich L, Hardan A, Hallmayer J, O’Hara R. {{Individuals With Autism Spectrum Disorders Have Equal Success Rate But Require Longer Periods of Systematic Desensitization Than Control Patients to Complete Ambulatory Polysomnography}}. {J Clin Sleep Med};2015 (Nov 6)
ABSTRACT: Polysomnography (PSG) is the gold standard for the assessment of sleep, and provides valuable information for researchers and clinicians alike. However, the extensive apparatus required for monitoring with PSG can be difficult to tolerate, particularly in children. Clinical populations, such as those with anxiety or tactile sensitivity, may have even greater difficulty tolerating the PSG equipment. A protocol using ambulatory PSG and systematic desensitization is described that was developed to study sleep in individuals with autism spectrum disorders (ASD) or developmental delay (DD), as well as typically developing controls (TD). Using this procedure, PSG was successfully attained in 144 subjects (89.4%). Individuals with ASD were equally able to obtain successful PSG; however, they did take significantly longer to desensitize to the equipment than DD or TD subjects. Age, sex, IQ, and tactile sensitivity did not predict the duration of time required for successful desensitization. Clinicians and researchers might consider use of a similar protocol to facilitate future sleep investigations.
8. Seeberger C. {{Book Review: Adults with intellectual and developmental disabilities: Strategies for occupational therapy}}. {Can J Occup Ther};2015 (Nov 12)
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9. Tanner K, Case-Smith J, Nahikian-Nelms M, Ratliff-Schaub K, Spees C, Darragh AR. {{Behavioral and Physiological Factors Associated With Selective Eating in Children With Autism Spectrum Disorder}}. {Am J Occup Ther};2015 (Nov-Dec);69(6):6906180030p6906180031-6906180038.
Selective eating is common in children with autism spectrum disorder (ASD), but it is not yet well understood. The objectives of this study were to examine a new definition of selective eating, compare behavioral measures between children with ASD and selective eating and those without selective eating, and determine relationships among behavioral measures and measures of selective eating. Participants were assigned to groups on the basis of number of foods eaten compared with a population-based sample. Results of one-way multivariate analysis of variance indicated no overall effect of group for challenging behaviors, sensory reactivity, or repetitive behaviors. Between-participant tests indicated that scores for compulsive behaviors were significantly lower (p = .036) for the selective eating group. Correlations were moderately strong among variables relating to food intake and behavioral variables, but were not significant between selective eating and behavioral variables. Further research is needed to validate the definition of selective eating and to identify targets for intervention.
