1. Dalla Vecchia E, Mortimer N, Palladino VS, Kittel-Schneider S, Lesch KP, Reif A, Schenck A, Norton WHJ. {{Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2}}. {Psychiatric genetics}. 2018.
Animal and cellular models are essential tools for all areas of biological research including neuroscience. Model systems can also be used to investigate the pathophysiology of psychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this review, we provide a summary of animal and cellular models for three genes linked to ADHD and ASD in human patients – CNTNAP2, ADGRL3, and PARK2. We also highlight the strengths and weaknesses of each model system. By bringing together behavioral and neurobiological data, we demonstrate how a cross-species approach can provide integrated insights into gene function and the pathogenesis of ADHD and ASD. The knowledge gained from transgenic models will be essential to discover and validate new treatment targets for these disorders.
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2. Dyson MW, Chlebowski C, Brookman-Frazee L. {{Therapists’ Adaptations to an Intervention to Reduce Challenging Behaviors in Children with Autism Spectrum Disorder in Publicly Funded Mental Health Services}}. {Journal of autism and developmental disorders}. 2018.
Publicly funded mental health services play an important role in serving children with autism spectrum disorder (ASD). Previous research indicates a high likelihood of adaptations when therapists deliver evidence based practices to non-ASD populations, though less is known about therapists’ use of adaptations for children with ASD receiving mental health services. The current study uses a mixed quantitative and qualitative approach to characterize the types and reasons therapists adapted a clinical intervention [An Individualized Mental Health Intervention for Children with ASD (AIM HI)] for delivery with clinically complex children with ASD served in publicly funded mental health settings and identify therapist characteristics that predict use of adaptations. The most common adaptations were characterized as augmenting AIM HI and were done to individualize the intervention to fit with therapeutic style, increase caregiver participation, and address clients’ and caregivers’ needs and functioning. No therapist characteristics emerged as significant predictors of adaptations. Results suggest that therapists’ adaptations were largely consistent with the AIM HI protocol while individualizing the model to address the complex needs of youth with ASD.
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3. Kovarski K, Mennella R, Wong SM, Dunkley BT, Taylor MJ, Batty M. {{Enhanced Early Visual Responses During Implicit Emotional Faces Processing in Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
Research on Autism Spectrum Disorder (ASD) has focused on processing of socially-relevant stimuli, such as faces. Nonetheless, before being ‘social’, faces are visual stimuli. The present magnetoencephalography study investigated the time course of brain activity during an implicit emotional task in visual emotion-related regions in 19 adults with ASD (mean age 26.3 +/- 4.4) and 19 typically developed controls (26.4 +/- 4). The results confirmed previously-reported differences between groups in brain responses to emotion and a hypo-activation in the ASD group in the right fusiform gyrus around 150 ms. However, the ASD group also presented early enhanced activity in the occipital region. These results support that impaired face processing in ASD might be sustained by atypical responses in primary visual areas.
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4. Krzysztofik K, Otrebski W. {{Measurement tools of autism syndrome severity and selected neurocognitive processes in individuals with ASD}}. {Psychiatria polska}. 2018; 52(4): 641-50.
According to the latest theories explaining the pathomechanism and course of autism spectrum disorder (ASD), this disorder is characterized by abnormalities in the development of neurocognitive processes, such as executive functions, « theory of mind », cognitive style, or sensory integration processes. The structure of these processes is not homogenous, which has implications for measurement methodology. The type of indicators of the course and development level of neurocognitive processes analyzed by a researcher entails the need to choose an appropriate measurement tool. The behavioral indicators (verbal and nonverbal behavior of the participants) are measured with the use of observation sheets. On the other hand, the neurophysiological indicators are measured with the use of high-technology equipment, such as: computed tomography (CT), functional magnetic resonance imaging (fMRI), or eye tracker. By systematizing the tools most often used by researchers to measure sensory integration processes, the level of development of « theory of mind » and empathizing skills, as well as autism severity in individuals with ASD, the article reveals the relationship between the formulated hypothesis and the type of measured indicators of the abovementioned variables. It therefore suggests that a project of research should be set by the investigator within a methodological approach that is relevant for the verification of the formulated hypothesis.
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5. Liu J, Tsang T, Jackson L, Ponting C, Jeste SS, Bookheimer SY, Dapretto M. {{Altered Lateralization of Dorsal Language Tracts in 6-Week-Old Infants at Risk for Autism}}. {Developmental science}. 2018: e12768.
Altered structural connectivity has been identified as a possible biomarker of autism spectrum disorder (ASD) risk in the developing brain. Core features of ASD include impaired social communication and early language delay. Thus, examining white matter tracts associated with language may lend further insight into early signs of ASD risk and the mechanisms that underlie language impairments associated with the disorder. Evidence of altered structural connectivity has previously been detected in 6-month-old infants at high familial risk for developing ASD. However, as language processing begins in utero, differences in structural connectivity between language regions may be present in the early infant brain shortly after birth. Here we investigated key white matter pathways of the dorsal language network in 6-week-old infants at high (HR) and low (LR) risk for ASD to identify atypicalities in structural connectivity that may predict altered developmental trajectories prior to overt language delays and the onset of ASD symptomatology. Compared to HR infants, LR infants showed higher fractional anisotropy (FA) in the left superior longitudinal fasciculus (SLF); in contrast, in the right SLF, HR infants showed higher FA than LR infants. Additionally, HR infants showed more rightward lateralization of the SLF. Across both groups, measures of FA and lateralization of these pathways at 6 weeks of age were related to later language development at 18 months of age as well as ASD symptomatology at 36 months of age. These findings indicate that early differences in the structure of language pathways may provide an early predictor of future language development and ASD risk. This article is protected by copyright. All rights reserved.
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6. McDonnell CG, Boan AD, Bradley CC, Seay KD, Charles JM, Carpenter LA. {{Child maltreatment in autism spectrum disorder and intellectual disability: results from a population-based sample}}. {Journal of child psychology and psychiatry, and allied disciplines}. 2018.
BACKGROUND: Children with developmental disabilities are at heightened risk for maltreatment. However, little is known regarding the prevalence of maltreatment among specific groups, such as autism spectrum disorder (ASD) and/or intellectual disability (ID). Information about maltreatment in these groups can aid in the development of supports and prevention strategies for vulnerable children and their families. METHODS: Using record linkage between the Department of Social Services (DSS) and the Autism and Developmental Disabilities Monitoring (ADDM) network, this study compares the prevalence and characteristics of maltreatment among children with ASD-only (n = 316), ASD and comorbid ID (ASD+ID; n = 291), ID-only (n = 1,280), and controls (n = 3,101). Behavioral correlates of maltreatment are examined. RESULTS: Controlling for demographic factors, this study found significantly higher odds of reported and substantiated maltreatment among children with ASD-only (odds ratio = 1.86 for reported, 1.51 for substantiated), ASD+ID (odds ratio = 2.35 for reported, 1.97 for substantiated), and ID-only (odds ratio = 2.45 for reported, 2.49 for substantiated) relative to a population control group, with large effects. In particular, children with ASD+ID and ID-only were between two and three times more likely to experience maltreatment. All groups were more likely to experience physical neglect, and children in the ASD+ID and ID-only groups were more likely to experience all forms of abuse. Children in the ASD-only group were more likely to experience physical abuse. Maltreated children in the ASD-only and ID-only groups experienced more cases of physical abuse and neglect, and were victimized by more perpetrators compared to other maltreated youth. Maltreatment was associated with higher likelihood of aggression, hyperactivity, and tantrums for children with ASD. CONCLUSIONS: Children with ASD and/or ID are at heightened risk for maltreatment. Empirically-supported assessment and intervention approaches for identifying and addressing traumatic stress related to maltreatment in ASD are urgently needed.
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7. Rynkiewicz A, Lucka I. {{Autism spectrum disorder (ASD) in girls. Co-occurring psychopathology. Sex differences in clinical manifestation}}. {Psychiatria polska}. 2018; 52(4): 629-39.
OBJECTIVES: The study aims to define the differences in clinical manifestation among adolescent girls and boys with autism spectrum disorder (ASD). METHODS: The study group consisted of 15 adolescent girls and 16 adolescent boys with diagnosis of autismor Asperger syndrome and their parents. Adolescents were assessed with ADOS (Autism Diagnostic Observation Schedule, Polish adaptation of the assessment), algorithms of ADOS and ADOS-2 (revised version) were compared. Structured interview was conducted with parents, they fulfilled AQ (Autism Quotient), ASAS (Australian Scale for Asperger Syndrome), GQ-ASC (Girls’ Questionnaire for Autism Spectrum Conditions). Medical records were analyzed. Results were analyzed using statistical methods. RESULTS: Patients were assessed with ADOS Module 4. Results indicated statistically significant differences between ASD girls and ASD boys in communication section, both verbal and gestures. The mean scores of AQ for ASD girls and ASD boys were M = 33.0 and M=30.9, and of ASAS M =57% and M =61% respectively. ASD girls had more psychiatric hospitalisations than ASD boys (60% vs. 31%), and they were more often treated with antidepressants (67% vs. 31%), anxiolytics (20% vs. 6%), mood stabilizers (40% vs. 19%). ASD boys were more often treated with psychotropic medications (50% vs. 47%) and stimulants (44% vs. 20%) than ASD girls. CONCLUSIONS: ASD girls are at risk of receiving non-spectrum classification in ADOS or ADOS-2 while their developmental history and clinical manifestation confirm ASD. Clinical data suggests that ASD girls present more abnormalities in sensory profile. ASD girls are at greater risk for developing anxiety, depression, suicidal ideation, and for psychiatric hospitalization. ASD boys appear to be at greater risk for co-occurring ADHD, OCD and tics.
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8. Saldarriaga W, Salcedo-Arellano MJ, Rodriguez-Guerrero T, Rios M, Fandino-Losada A, Ramirez-Cheyne J, Lein PJ, Tassone F, Hagerman RJ. {{Increased Severity of Fragile X Spectrum Disorders in the Agricultural Community of Ricaurte, Colombia}}. {International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience}. 2018.
Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder. Additionally, close to 50% have psychiatric problems such as anxiety, ADHD and/or depression. The spectrum of fragile X disorders also includes Fragile-X-associated primary ovarian insufficiency (FXPOI) in female carriers and Fragile-X-associated tremor/ataxia syndrome (FXTAS) in older male and female carriers. We evaluated 25 premutation carriers in the rural community of Ricaurte Colombia and documented all behavioral problems, social deficits and clinical signs of FXPOI and FXTAS as well as reviewed the medical and obstetric history. We found an increased frequency and severity of symptoms of fragile X spectrum disorders, which might be related to the vulnerability of FMR1 premutation carriers to higher exposure to neurotoxic pesticides in this rural community.
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9. Sato Y, Okabe S. {{Nano-scale analysis of synapse morphology in an autism mouse model with 15q11-13 copy number variation using focused ion beam milling and scanning electron microscopy}}. {Microscopy (Oxford, England)}. 2018.
Circuit-level alternations in patients of autism spectrum disorder (ASD) is under active investigation and detailed characterization of synapse morphology in ASD model mice should be informative. We utilized focused ion beam milling and scanning electron microscopy (FIB-SEM) to obtain three-dimensional images of synapses in the layer 2/3 of the somatosensory cortex from a mouse model for ASD with human 15q11-13 chromosomal duplication (15q dup mice). We found a trend of higher spine density and a higher fraction of astrocytic contact with both spine and shaft synapses in 15q dup mice. Measurement of spine synapse structure indicated that the size of the post-synaptic density (PSD), spine head volume, spine head width and spine neck width were smaller in 15q dup mice. Categorization of spine synapses into five classes suggested a trend of less frequent mushroom spines in 15q dup mice. These results suggest relative increase in excitatory synapses with immature morphology but more astrocytic contacts in 15q dup mice, which may be linked to enhanced synapse turnover seen in ASD mouse models.
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10. Stralin P, Hetta J. {{First episode psychosis and comorbid ADHD, autism and intellectual disability}}. {European psychiatry : the journal of the Association of European Psychiatrists}. 2018; 55: 18-22.
BACKGROUND: Comorbidity between neurodevelopmental disorders and psychotic disorders is common, but little is known about how neurodevelopmental disorders influence the presentation and outcome of first episode psychosis. METHODS: A nation-wide cohort (n = 2091) with a first hospitalization for psychosis between 2007-2011 and at ages between 16-25 at intake was identified from Swedish population registries. Comorbid diagnoses of neurodevelopmental disorders were identified at first psychosis hospitalization and for ADHD also by dispensations of psychostimulants before the first psychosis hospitalization. Data from the registers on hospitalizations and dispensations of antipsychotic and psychostimulant medications during the year before and 2 years after the first psychosis hospitalization were analysed. Self-harm and substance use disorders were identified by ICD10 codes at hospitalizations. RESULTS: 2.5% of the cohort was identified with a diagnosis of intellectual disability, 5.0% with autism and 8.1% with ADHD. A larger proportion of cases with Autism (OR = 1.8, p < 0.05) and intellectual disability (OR = 3.1, p < 0.01) were using antipsychotic medication year 2 compared to the rest of the cohort. Delusional disorder was more common in the autism group (OR = 2.3, p < 0.05) at first psychosis hospitalization. ADHD was associated with higher risks for substance use disorders and self-harm both before and after the first psychosis hospitalization. Year 2 substance use disorder had a OR = 2.6 (p < 0.001) and self-harm OR = 4.1 (p < 0.001). CONCLUSIONS: Psychosis with comorbid ADHD is associated with high risks for substance use disorders and for self-harm, while psychosis with comorbid autism and intellectual disability is associated with longer treatment and higher doses of antipsychotic medication. Lien vers le texte intégral (Open Access ou abonnement)
