Pubmed du 28/04/20

mardi 28 avril 2020

1. Anderson J, Marley C, Gillespie-Smith K, Carter L, MacMahon K. When the mask comes off : Mothers’ experiences of parenting a daughter with autism spectrum condition. Autism. 2020 : 1362361320913668.

LAY ABSTRACT : Parents of children with autism spectrum condition report increased stress and difficulties compared with parents of typically developing children. Our knowledge and understanding of how autism spectrum condition presents in autistic females is currently limited and parents of this population may experience challenges when raising their daughter. Given that mothers are often the main caregiver of a child with autism spectrum condition, they may have useful insights into the experiences of parenting a daughter with autism spectrum condition. Therefore, a qualitative study was undertaken to explore what mothers’ experiences are of parenting a daughter with autism spectrum condition. Semi-structured interviews were conducted with 10 mothers of daughters with autism spectrum condition. The interviews were analysed using interpretative phenomenological analysis. Five main themes emerged from the qualitative study (’Girls have autism too’, ’She’s a chameleon’, ’The impact of the diagnosis’, ’Impact on mums’ and ’Day-to-day life’). The findings of this study expand our current knowledge of the experiences and challenges faced by mothers raising a daughter with autism spectrum condition. Mothers hold a vast amount of knowledge on their daughters’ autism spectrum condition which could inform the diagnostic process and clinical practice. Considering these results, it is important that clinicians support mothers and the family system around children with an autism spectrum condition diagnosis.

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2. Baron-Mendoza I, Gonzalez-Arenas A. Relationship between the effect of polyunsaturated fatty acids (PUFAs) on brain plasticity and the improvement on cognition and behavior in individuals with autism spectrum disorder. Nutr Neurosci. 2020 : 1-24.

Objective : This work aimed to compile information about the neuronal processes in which polyunsaturated fatty acids (PUFAs) could modulate brain plasticity, in order to analyze the role of nutritional intervention with the omega-3 and omega-6 fatty acids as a therapeutic strategy for the Autism Spectrum Disorder (ASD)-related signs and symptoms.Methods : We reviewed different articles reporting the effect of PUFAS on neurite elongation, membrane expansion, cytoskeleton rearrangement and neurotransmission, considering the ASD-related abnormalities in these processes.Results : In accordance to the reviewed studies, it is clear that ASD is one of the neurological conditions associated with an impairment in neuronal plasticity ; therefore, PUFAs-rich diet improvements on cognition and behavioral deficits in individuals with autism, could be involved with the regulation of neuronal processes implicated in the atypical brain plasticity related with this neurodevelopmental disorder.Discussion : The behavioral and cognitive improvement observed in individuals with ASD after PUFAs treatment might underlie, at least in part, in the ability of omega-3 and omega-6 fatty acids to induce neurite outgrowth, probably, through the dynamic regulation of the neuronal cytoskeleton along with the expansion of neuronal membranes. Furthermore, it might also be associated with an enhancement of the efficacy of synaptic transmission and the modulation of neurotransmitters release.

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3. Erickson SR, Basu T, Dorsch MP, Kamdar N. Disparities in the Use of Guideline-Based Pharmacotherapy Exist for Atherosclerotic Cardiovascular Disease and Heart Failure Patients Who Have Intellectual/Developmental Disabilities in a Commercially Insured Database. The Annals of pharmacotherapy. 2020 : 1060028020916842.

Background : Patients who have intellectual/developmental disabilities (IDDs) develop atherosclerotic cardiovascular disease (ASCVD) or heart failure (HF) at rates similar to or higher than the general population. They also face disparities accessing and using health care services. Objective : To determine if disparities exist in the use of guideline-based pharmacotherapy (GBP) for ASCVD or HF for adults with IDD. Methods : Using the 2014 Clinformatics Data Mart Database, adults with ASCVD or HF were divided into IDD or non-IDD groups. Patients with contraindications for GBP medications were excluded. Use of GBP between IDD and non-IDD groups was examined. Subgroup analysis included comparisons between IDD groups. Results : For HF, 1011 patients with IDD and 236,638 non-IDD patients were identified. For ASCVD, 2190 IDD and 790,343 non-IDD patients were identified. We found that 47.9%, 35.8%, and 13.1% of IDD and 58.7%, 48.4%, and 18.9% of non-IDD patients had pharmacy claims for statins (P < 0.001), beta-blockers (P < 0.001), or antiplatelet therapy (P < 0.001), respectively. For HF, 46.8% and 50.3% of IDD and 59.8% and 55.4% of non-IDD patients had pharmacy claims for beta-blockers (P < 0.001) and angiotensin-converting enzyme (ACE) inhibitors or angiotensin-receptor blockers (ARBs ; P = 0.003), respectively. In all but one multivariate regression models patients with IDD were less likely to use GBP than patients in the non-IDD group. Subgroup analysis revealed that patients who had Down syndrome had lower GBP use in 4 of the 5 measures. Conclusion and Relevance : Disparities exist in the use of GBP for patients with IDD with ASCVD or HF. Patients who have an IDD should be examined by clinicians to ensure appropriate access to and use of GBP.

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4. Falligant JM, Pence ST. Interventions for inappropriate sexual behavior in individuals with intellectual and developmental disabilities : A brief review. Journal of applied behavior analysis. 2020.

Although prevalence rates vary, 6% to 28% of individuals with intellectual or developmental disabilities (IDDs) engage in inappropriate sexual behavior (ISB), ranging from public masturbation to sexually aggressive behavior. Along with increased risk for contacting the criminal justice system, people with IDDs who display ISB may encounter negative social consequences, restricted community access and barriers to independence, and a variety of counter-therapeutic outcomes. The purpose of the present review is to highlight recent, efficacious behavior-analytic treatments for ISB in individuals with IDDs. Ethical considerations and areas for future research will be discussed.

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5. Frackowiak J, Mazur-Kolecka B, Mehta P, Wegiel J. Enhanced accumulation of N-terminally truncated Abeta with and without pyroglutamate-11 modification in parvalbumin-expressing GABAergic neurons in idiopathic and dup15q11.2-q13 autism. Acta neuropathologica communications. 2020 ; 8(1) : 58.

Autism, the most frequent neurodevelopmental disorder of a very complex etiopathology, is associated with dysregulation of cellular homeostatic mechanisms, including processing of amyloid-beta precursor protein (APP). Products of APP processing - N-terminally truncated amyloid-beta peptide (N-tr-Abeta) species - are accumulated in autism in neurons and glia in the cortex, cerebellum, and subcortical structures of the brain. This process in neurons is correlated with increased oxidative stress. Because abnormally high levels of N-tr-Abeta are detected in only a fraction of neurons in the prefrontal cortex, we applied immunocytochemical staining and confocal microscopy in autopsy brain material from idiopathic and chromosome 15q11.2-q13 duplication (dup-15) autism to measure the load of N-tr-Abeta in the cells and synapses and to identify the subpopulation of neurons affected by these pathophysiological processes. The peptides accumulated in autism are N-terminally truncated ; therefore, we produced a new antibody against Abeta truncated at N-terminal amino acid 11 modified to pyroglutamate to evaluate the presence and distribution of this peptide species in autism. We also quantified and characterized the oligomerization patterns of the Abeta-immunoreactive peptides in autism and control frozen brain samples. We provide morphological evidence, that in idiopathic and dup-15 autism, accumulation of N-tr-Abeta with and without pyroglutamate-11 modified N-terminus affects mainly the parvalbumin-expressing subpopulation of GABAergic neurons. N-tr-Abeta peptides are accumulated in neurons’ cytoplasm and nucleus as well as in GABAergic synapses. Abeta peptides with both C-terminus 40 and 42 were detected by immunoblotting in frozen cortex samples, in the form of dimers and complexes of the molecular sizes of 18-24kD and 32-34kD. We propose that deposition of N-tr-Abeta specifically affects the functions of the parvalbumin-expressing GABAergic neurons and results in a dysregulation of brain excitatory-inhibitory homeostasis in autism. This process may be the target of new therapies.

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6. Green HL, Edgar JC, Matsuzaki J, Roberts TPL. Magnetoencephalography Research in Pediatric Autism Spectrum Disorder. Neuroimaging clinics of North America. 2020 ; 30(2) : 193-203.

Magnetoencephalography (MEG) research indicates differences in neural brain measures in children with autism spectrum disorder (ASD) compared to typically developing (TD) children. As reviewed here, resting-state MEG exams are of interest as well as MEG paradigms that assess neural function across domains (e.g., auditory, resting state). To date, MEG research has primarily focused on group-level differences. Research is needed to explore whether MEG measures can predict, at the individual level, ASD diagnosis, prognosis (future severity), and response to therapy.

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7. Hawari I, Eskandar MB, Alzeer S. The Role of Lead, Manganese, and Zinc in Autism Spectrum Disorders (ASDs) and Attention-Deficient Hyperactivity Disorder (ADHD) : a Case-Control Study on Syrian Children Affected by the Syrian Crisis. Biological trace element research. 2020.

Autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are two developmental disorders that affect children worldwide, and are linked to both genetic and environmental factors. This study aims to investigate the levels of lead, manganese, and zinc in each of ASD, ADHD, and ASD with comorbid ADHD in Syrian children born or grown during the Syrian crisis. Lead and manganese were measured in the whole blood, and zinc was measured in the serum in 31 children with ASD, 29 children with ADHD, and 11 children with ASD with comorbid ADHD (ASD-C) compared with 30 healthy children, their ages ranged between 3 and 12 years. Blood lead levels were higher in the groups of ASD-C (245.42%), ASD (47.57%), and ADHD (14.19%) compared with control. Lead levels were significantly higher in children with ASD in the age of 5 or less compared with control, and they were also higher in the male ASD compared with females (P = 0.001). Blood manganese levels were lower in the groups of ASD-C (10.35%), ADHD (9.95%, P = 0.026), and ASD (9.64%, P = 0.046). However, serum zinc levels were within the reference range in all groups of study. Lead and manganese were positively correlated with each other (P = 0.01). Lead increase and manganese decrease may associate with the incidence of ASD, ADHD, or the co-occurrence of both of them together. Further studies are needed to examine the relationship between metal levels and the co-occurrence of ASD and ADHD together.

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8. Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH. Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome. Brain Dev. 2020.

BACKGROUND AND PURPOSE : Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical ; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. METHODS : All available females diagnosed with RTT in Norway were invited to the study. Parents were interviewed, the girl or woman with RTT examined and medical records reviewed. All diagnoses were revisited according to the current diagnostic criteria and exome-based sequencing analyses were performed in individuals without an identified causative mutation. Participants were categorized according to genotypes and RTT diagnosis. Individuals with RTT with and without mutations in MECP2 were compared. RESULTS : Ninety-one individuals were included. A presumed causative mutation was identified in 86 individuals, of these, mutations in MECP2 in 77 individuals and mutations in SMC1A, SYNGAP1, SCN1A, CDKL5, FOXG1 or chromosome 13q in nine. Seventy-two individuals fulfilled the diagnostic criteria for classic and 12 for atypical RTT. Significant differences in early development, loss of hand use and language, intense eye gaze and the presence of early onset epilepsy were revealed in individuals with RTT according to their MECP2 genotypic status. CONCLUSION : Using the current diagnostic criteria, genetic and clinical variation in RTT is considerable. Significant differences between individuals with RTT with and without MECP2 mutations indicate that MECP2 is a major determinant for the clinical phenotype in individuals with RTT.

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9. Maher GM, Dalman C, O’Keeffe GW, Kearney PM, McCarthy FP, Kenny LC, Khashan AS. Association between Preeclampsia and Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder : An Intergenerational Analysis. Acta Psychiatr Scand. 2020.

Using a large Swedish-based registry cohort, we estimated that preeclampsia is associated with a 25% increase in the likelihood of autism spectrum disorder (ASD), and a 15% increase in the likelihood of attention deficit hyperactivity disorder (ADHD) (n=2,842,230 and 2,047,619 respectively)(1, 2). Evidence suggests that certain non-communicable diseases may have an effect across several generations(3, 4). However, whether there is any intergenerational link between preeclampsia exposure and ASD or ADHD outcome in the child is unknown. Therefore, we conducted a cross family analysis to examine the intergenerational association between preeclampsia and ASD and ADHD using a large population-based cohort.

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10. Meisami A. Comment on "Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder". J Autism Dev Disord. 2020.

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11. Nitschke A, Deonandan R, Konkle AT. The link between autism spectrum disorder and gut microbiota : A scoping review. Autism. 2020 : 1362361320913364.

LAY ABSTRACT : Gastrointestinal distress and gut microbial imbalances are commonly found in children with autism spectrum disorder, and therefore may play a key role in the development of the disorder. This scoping review aimed to examine the extent, range and nature of research conducted in the past 6 years that focused on furthering our understanding of autism spectrum disorder and its association with gut microbiota. A literature review was performed with predetermined key words. Studies were screened and selected based on defined inclusion and exclusion criteria. A total of 19 studies were included for final analysis. While there are continuous reports of differences in gut microbiota between autism spectrum disorder and neurotypical individuals, knowledge about the consistency in the presence and abundance of bacterial species, as well as metabolites, remains deficient. Treatments such as special diets, vitamin, prebiotic, probiotic, and microbiota transfer therapy show promising therapeutic potential, yet are in their infancy of investigation. Overall, further research with rigorous methodologies is required to support and strengthen the reliability of existing findings. Future research should aim to increase sample sizes, eliminate biases, and subgroup autism spectrum disorder groups to help accommodate for inter-individual variation. As increasing evidence of a unique autism spectrum disorder microbiome and metabolome is acquired, autism spectrum disorder-specific biomarkers can be identified. These biomarkers have great implications in terms of elucidating the molecular mechanisms of autism spectrum disorder, preventing the onset of autism spectrum disorder, and improving treatments for individuals with autism spectrum disorder.

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12. Rafferty D, Tidman L, Ekas NV. Parenting experiences of fathers of children with autism spectrum disorder with or without intellectual disability. J Intellect Disabil Res. 2020.

BACKGROUND : Fathers of children with autism spectrum disorder (ASD) report more challenges than fathers of typically developing children, which also negatively impacts their psychological well-being. Although not studied to the same extent in fathers of children with ASD, the challenges experienced by fathers of typically developing children have been shown to impact parenting behaviours. Many children with ASD also have intellectual disability (ID), which adds additional parenting stress. The purpose of this qualitative study was to examine perceptions of parenting roles and father-child relationship quality in fathers of children with ASD and ASD/ID. METHODS : Twenty-eight fathers of children with ASD (n = 12) and ASD/ID (n = 16) completed a telephone interview. A phenomenological approach was used by two investigators to analyse the interviews. Both investigators coded the interviews and then discussed the final themes. RESULTS : Five major themes emerged. One theme that emerged was pre-birth expectations, and the remaining themes related to the post-diagnosis period : adjustments, experiences, co-parenting and quality of father-child relationship. Both fathers of a child with ASD and ASD/ID reported on all themes. CONCLUSIONS : Overall, fathers of children with ASD and ASD/ID reported similarly on the themes that emerged. Future research with more diverse samples is needed to continue to understand the fatherhood experience. The findings of this study have implications for the development of parent-focused programmes that are tailored to fathers’ unique experiences.

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13. Singh K, Singh IN, Diggins E, Connors SL, Karim MA, Lee D, Zimmerman AW, Frye RE. Developmental regression and mitochondrial function in children with autism. Annals of clinical and translational neurology. 2020.

BACKGROUND : Developmental regression (DR) occurs in about one-third of children with Autism Spectrum Disorder (ASD) yet it is poorly understood. Current evidence suggests that mitochondrial function in not normal in many children with ASD. However, the relationship between mitochondrial function and DR has not been well-studied in ASD. METHODS : This cross-sectional study of 32 children, 2 to 8 years old with ASD, with (n = 11) and without (n = 12) DR, and non-ASD controls (n = 9) compared mitochondrial respiration and mtDNA damage and copy number between groups and their relation to standardized measures of ASD severity. RESULTS : Individuals with ASD demonstrated lower ND1, ND4, and CYTB copy number (Ps < 0.01) as compared to controls. Children with ASD and DR had higher maximal oxygen consumption rate (Ps < 0.02), maximal respiratory capacity (P < 0.05), and reserve capacity (P = 0.01) than those with ASD without DR. Coupling Efficiency and Maximal Respiratory Capacity were associated with disruptive behaviors but these relationships were different for those with and without DR. Higher ND1 copy number was associated with better behavior. CONCLUSIONS : This study suggests that individuals with ASD and DR may represent a unique metabolic endophenotype with distinct abnormalities in respiratory function that may put their mitochondria in a state of vulnerability. This may allow physiological stress to trigger mitochondrial decompensation as is seen clinically as DR. Since mitochondrial function was found to be related to ASD symptoms, the mitochondria could be a potential target for novel therapeutics. Additionally, identifying those with vulnerable mitochondrial before DR could result in prevention of ASD.

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14. Suzuki T, Miyaki K, Tsutsumi A. Which autistic traits are related to depressive symptoms in Japanese workers ?. Industrial health. 2020.

Individuals with autism spectrum disorders are at a high risk of experiencing depressive symptoms. However, the relationship between autistic traits and depressive symptoms is unclear. This study aimed to identify which autistic traits are related to depressive symptoms in Japanese workers. The study participants included 2,049 workers from all areas of Japan. Autistic traits and depressive symptoms were measured using an abridged Japanese version of the Autism-Spectrum Quotient (AQ-Short) and the Japanese version of the K6 scale, respectively. The AQ-Short comprises five autistic trait subcomponents that assess fascination for numbers/patterns, difficulties with imagination, preference for routine, difficulties with social skills, and attention-switching difficulties. Linear regression analyses were performed to estimate the association between total and subcomponent autistic trait scores and depressive symptoms. Participants with higher total autistic trait scores were significantly more likely to have depressive symptoms (p<0.001). When scores on the five autistic trait subcomponents were entered simultaneously into the model, participants with higher scores on all subcomponents other than ’difficulties with imagination’ were significantly more likely to report depressive symptoms. Total autistic traits and autistic trait subcomponents could be used for early detection of the risk of depressive symptoms.

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15. Wilkenfeld DA, McCarthy AM. Ethical Concerns with Applied Behavior Analysis for Autism Spectrum "Disorder". Kennedy Institute of Ethics journal. 2020 ; 30(1) : 31-69.

This paper has both theoretical and practical ambitions. The theoretical ambitions are to explore what would constitute both effective and ethical treatment of Autism Spectrum Disorder (ASD). However, the practical ambition is perhaps more important : we argue that a dominant form of Applied Behavior Analysis (ABA), which is widely taken to be far-and-away the best "treatment" for ASD, manifests systematic violations of the fundamental tenets of bioethics. Moreover, the supposed benefits of the treatment not only fail to mitigate these violations, but often exacerbate them. Warnings of the perils of ABA are not original to us-autism advocates have been ringing this bell for some years. However, their pleas have been largely unheeded, and ABA continues to be offered to and quite frequently pushed upon parents as the appropriate treatment for autistic children. Our contribution is to argue that, from a bioethical perspective, autism advocates are fully justified in their concerns-the rights of autistic children and their parents are being regularly infringed upon. Specifically, we will argue that employing ABA violates the principles of justice and nonmaleficence and, most critically, infringes on the autonomy of children and (when pushed aggressively) of parents as well.

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16. Yu L, Stronach S, Harrison AJ. Public knowledge and stigma of autism spectrum disorder : Comparing China with the United States. Autism. 2020 : 1362361319900839.

Autism spectrum disorder in China differs considerably from autism spectrum disorder in the West in terms of prevalence estimates, education opportunities, and life outcomes of autistic people. The lack of autism spectrum disorder awareness could be a key factor underlying the disparities. To date, there has been no evaluation of autism spectrum disorder knowledge among the general public of China. Using the Autism Stigma and Knowledge Questionnaire developed for use in diverse cultural contexts, this study uncovered profoundly different public views about autism spectrum disorder in China compared with the United States. Determined by cognitive diagnosis modeling, 86%-91% of the surveyed U.S. citizens (N = 1127) achieved adequate autism spectrum disorder knowledge in diagnosis/symptoms, etiology, and treatment, whereas for the Chinese citizens (N = 1254) the percentages were only 57%-65%. Moreover, 14% of the participants from the United States were classified to endorse autism spectrum disorder stigma ; in comparison, 38% of the Chinese participants endorsed autism spectrum disorder stigma. The Chinese citizens displayed knowledge deficits primarily in the areas of autism spectrum disorder core symptoms, comorbid intellectual impairment, and prognosis. Sociodemographic factors associated with the Chinese citizen’s misconceptions included gender, ethnicity, social economic factors, among others. These results have important implications for increasing public awareness and promoting community participation for autistic individuals in China. Lay abstract ASD in China differs considerably from ASD in the West in terms of prevalence estimates, education opportunities and life outcomes of autistic people. The lack of ASD awareness could be a key factor underlying these disparities. We asked 1127 U.S. citizens and 1254 Chinese citizens about their autism knowledge using the Autism Stigma and Knowledge Questionnaire (ASK-Q).The results indicated profoundly different public views about ASD in China compared to the U.S. Specifically, only 57%-65% of the Chinese citizens demonstrated adequate ASD knowledge compared to 86%-91% in the U.S. citizens. Fourteen percent of the U.S. citizens were shown to hold stigma beliefs towards ASD ; in comparison, 38% of the Chinese citizens indicated ASD stigma. The Chinese citizens displayed misconceptions about ASD related to symptoms, causes, and possible long-term outcomes. In China but not in the U.S., male citizens and citizens with lower social economic status were more likely to have misconceptions about ASD than others were. The findings of this research can help increase public awareness about ASD and create a more inclusive environment for autistic people in China.

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