Pubmed du 27/04/20

lundi 27 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. Crowley JG, Peterson KM, Fisher WW, Piazza CC. Treating food selectivity as resistance to change in children with autism spectrum disorder. Journal of applied behavior analysis. 2020.

Change-resistant behavior, such as rigid and selective food consumption, is a core symptom of autism that can have significant negative consequences for the child (Flygare Wallen et al., 2018 ; Levy et al., 2019). In the current study, we used a matching-law-based intervention (Fisher et al., 2019) to treat the change-resistant feeding behavior of 7 young children with autism. The feeder gave the participant a choice between a change-resistant and an alternative food during free- and asymmetrical-choice conditions. Alternative-food consumption increased for 2 participants during asymmetrical choice when the feeder provided a preferred item for consuming the alternative food and no programmed consequence for consuming the change-resistant food. Alternative-food consumption increased for the other 5 participants after the feeder exposed at least 1 food to single choice in which the feeder guided the participant to put the bite of alternative food in his or her mouth if he or she did not do so within 8 s of presentation. Effects of the single-choice contingencies maintained during reversals and generalized to other alternative foods the feeder did not expose to single choice. These results are important because participants consumed alternative foods even when their change-resistant foods were present, which is similar to typical mealtime contexts in which children have choices among foods.

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3. Erickson SR. In-home comprehensive medication reviews for adults with intellectual or developmental disability : A pilot study. Journal of the American Pharmacists Association : JAPhA. 2020.

OBJECTIVES : To assess the feasibility of conducting in-home comprehensive medication reviews (CMRs) and to identify and intervene when appropriate for medication-related problems (MRPs) found in medication regimens taken by people with an intellectual or developmental disability (IDD). SETTING : Community-based group homes in southeast Michigan. PRACTICE DESCRIPTION : Implementation and evaluation of a pilot program conducting CMRs within community-based group homes. PRACTICE INNOVATION : An in-home CMR conducted by a clinical pharmacist. EVALUATION : Identified MRPs, pharmacist recommendations, recommendation acceptance, time spent directly on intervention, and barriers to implementation. RESULTS : CMRs were conducted for 15 patients identified as receiving 5 or more medications by their community support agency. Thirty-six MRPs were identified (mean +/- SD of 2.4 +/- 1.5 per person). The most common MRPs were a medication that was being taken with no indication for its use (7 occurrences) and identification of an untreated medical problem (7). Other MRPs included wrong dose (5) ; patient or caregiver indicated that the medication was not working (4) ; wrong dosage form was being used or given (3) ; duplication of therapy (2) ; pharmacy error (2) ; extended release medications were being crushed before administration (2) ; and wrong administration time, drug ordered but not given, drug-disease potential interaction, and poor drug administration technique (1 for each). The interventions included sending information letters to the group home manager containing information to be discussed with the patient’s physician or telephone calls made directly to the prescriber or pharmacy. The interventions made by telephone calls to prescribers included 3 calls to physicians to discuss 5 MRPs, and 3 telephone calls for pharmacy-related MRPs, all of which were accepted. CONCLUSION : The results of this prospective pilot project provide justification to further explore the role of conducting independent CMRs for patients with an IDD living in the community to ensure safe and effective use of their medications.

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4. 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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5. Hilvert E, Hoover J, Sterling A, Schroeder S. Comparing Tense and Agreement Productivity in Boys With Fragile X Syndrome, Children With Developmental Language Disorder, and Children With Typical Development. Journal of speech, language, and hearing research : JSLHR. 2020 ; 63(4) : 1181-94.

Purpose This study compared and characterized the tense and agreement productivity of boys with fragile X syndrome (FXS), children with developmental language disorder (DLD), and children with typical development (TD) matched on mean length of utterance. Method Twenty-two boys with FXS (M age = 12.22 years), 19 children with DLD (M age = 4.81 years), and 20 children with TD (M age = 3.23 years) produced language samples that were coded for their productive use of five tense markers (i.e., third-person singular, past tense -ed, copula BE, auxiliary BE, and auxiliary DO) using the tense and agreement productivity score. Children also completed norm-referenced cognitive and linguistic assessments. Results Children with DLD generally used tense and agreement markers less productively than children with TD, particularly third-person singular and auxiliary BE. However, boys with FXS demonstrated a more complicated pattern of productivity, where they were similar to children with DLD and TD, depending on the tense marker examined. Results revealed that children with DLD and TD showed a specific developmental sequence of the individual tense markers that aligns with patterns documented by previous studies, whereas boys with FXS demonstrated a more even profile of productivity. Conclusions These findings help to further clarify areas of overlap and discrepancy in tense and agreement productivity among boys with FXS and children with DLD. Additional clinical implications of these results are discussed.

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6. Hong T, Falcone C, Dufour B, Amina S, Perez Castro R, Regalado J, Pearson W, Noctor SC, Martinez-Cerdeno V. GABAARalpha2 is decreased in the axon initial segment of pyramidal cells in specific areas of the prefrontal cortex in autism. Neuroscience. 2020.

Some forms of Autism Spectrum Disorder, a neurodevelopmental syndrome characterized by impaired communication and social skills as well as repetitive behaviors, are purportedly associated with dysregulation of the excitation/inhibition balance in the cerebral cortex. Through human postmortem tissue analysis, we previously found a significant decrease in the number of a gamma-aminobutyric acid (GABA)ergic interneuron subtype, the chandelier (Ch) cell, in the prefrontal cortex of subjects with autism. Ch cells exclusively target the axon initial segment (AIS) of excitatory pyramidal (Pyr) neurons, and a single Ch cell forms synapses on hundreds of Pyr cells, indicating a possible role in maintaining electrical balance. Thus, we herein investigated this crucial link between Ch and Pyr cells in the anatomy of autism neuropathology by examining GABA receptor protein expression in the Pyr cell AIS in subjects with autism. We collected tissue from the prefrontal cortex (Brodmann Areas (BA) 9, 46, and 47) of 20 subjects with autism and 20 age- and sex-matched control subjects. Immunohistochemical staining with antibodies against the GABAA receptor subunit alpha2 (GABAARalpha2) - the subunit most prevalent in the Pyr cell AIS - revealed a significantly decreased percent area of GABAARalpha2 protein labeling in the Pyr cell AIS in supragranular layers of prefrontal cortex areas BA9 and BA47 in autism. Downregulated GABAARalpha2 protein in the Pyr cell AIS may result from decreased GABA synthesis in the prefrontal cortex of subjects with autism, and thereby contribute to an excitation/inhibition imbalance. Our findings support the potential forGABA receptor agonists asa therapeutic tool for autism. Glossary : Pyramidal cell:The main excitatory neuron in the mammalian prefrontal cortex Chandelier cell : A fast-spiking parvalbumin-positive GABAergic interneuron Cartridge : Chandelier cell axonal structure containing synaptic terminal boutons Axon initial segment : Proximal segment of the pyramidal cell axon and the site of chandelier cell synapses.

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7. Krakowski AD, Cost KT, Anagnostou E, Lai MC, Crosbie J, Schachar R, Georgiades S, Duku E, Szatmari P. Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample. Mol Autism. 2020 ; 11(1) : 28.

BACKGROUND : Although there is high co-occurrence between ASD and ADHD, the nature of this co-occurrence remains unclear. Our study aimed to examine the underlying relationship between ASD and ADHD symptoms in a combined sample of children with a primary clinical diagnosis of ASD or ADHD. METHODS : Participants included children and youth (aged 3-20 years) with a clinical diagnosis of ASD (n = 303) or ADHD (n = 319) for a total of 622 participants. Parents of these children completed the social communication questionnaire (SCQ), a measure of autism symptoms, and the strengths and weaknesses of ADHD and normal behavior (SWAN) questionnaire, a measure of ADHD symptoms. A principal component analysis (PCA) was performed on combined SCQ and SWAN items, followed by a profile analysis comparing normalized component scores between diagnostic groups and gender. RESULTS : PCA revealed a four-component solution (inattention, hyperactivity/impulsivity, social-communication, and restricted, repetitive, behaviors, and interests (RRBI)), with no overlap between SCQ and SWAN items in the components. Children with ASD had higher component scores in social-communication and RRBI than children with ADHD, while there was no difference in inattentive and hyperactive/impulsive scores between diagnostic groups. Males had higher scores than females in social-communication, RRBI, and hyperactivity/impulsivity components in each diagnostic group. LIMITATIONS : We did not formally assess children with ASD for ADHD using our research-criteria for ADHD, and vice versa. High rates of co-occurring ADHD in ASD, for example, may have inflated component scores in inattention and hyperactivity/impulsivity. A disadvantage with using single informant-based reports (i.e., parent-rated questionnaires) is that ASD and ADHD symptoms may be difficult to distinguish by parents, and may be interpreted differently between parents and clinicians. CONCLUSIONS : ASD and ADHD items loaded on separate components in our sample, suggesting that the measurement structure cannot explain the covariation between the two disorders in clinical samples. High levels of inattention and hyperactivity/impulsivity were seen in both ASD and ADHD in our clinical sample. This supports the need for a dimensional framework that examines neurodevelopmental domains across traditional diagnostic boundaries. Females also had lower component scores across social-communication, RRBI, and hyperactivity/impulsivity than males, suggesting that there may be gender-specific phenotypes related to the two conditions.

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8. Oztan O, Garner JP, Constantino JN, Parker KJ. Neonatal CSF vasopressin concentration predicts later medical record diagnoses of autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America. 2020.

Autism spectrum disorder (ASD) is a brain disorder characterized by social impairments. ASD is currently diagnosed on the basis of behavioral criteria because no robust biomarkers have been identified. However, we recently found that cerebrospinal fluid (CSF) concentration of the "social" neuropeptide arginine vasopressin (AVP) is significantly lower in pediatric ASD cases vs. controls. As an initial step in establishing the direction of causation for this association, we capitalized upon a rare biomaterials collection of newborn CSF samples to conduct a quasi-prospective test of whether this association held before the developmental period when ASD first manifests. CSF samples had been collected in the course of medical care of 0- to 3-mo-old febrile infants (n = 913) and subsequently archived at -70 degrees C. We identified a subset of CSF samples from individuals later diagnosed with ASD, matched them 1:2 with appropriate controls (n = 33 total), and quantified their AVP and oxytocin (OXT) concentrations. Neonatal CSF AVP concentrations were significantly lower among ASD cases than controls and individually predicted case status, with highest precision when cases with comorbid attention-deficit/hyperactivity disorder were removed from the analysis. The associations were specific to AVP, as ASD cases and controls did not differ in neonatal CSF concentrations of the structurally related neuropeptide, OXT. These preliminary findings suggest that a neurochemical marker of ASD may be present very early in life, and if replicated in a larger, prospective study, this approach could transform how ASD is detected, both in behaviorally symptomatic children, and in infants at risk for developing it.

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9. Soker-Elimaliah S, Jennings CA, Hashimi MM, Cassim TZ, Lehrfield A, Wagner JB. Autistic traits moderate relations between cardiac autonomic activity, interoceptive accuracy, and emotion processing in college students. International journal of psychophysiology : official journal of the International Organization of Psychophysiology. 2020.

The autonomic nervous system (ANS) plays a key role in maintaining physiological homeostasis, and research with neurotypical and autistic individuals has found relations between cardiac autonomic responses, as well as awareness of one’s cardiac responses, and social and emotional processing. The current study examined relations between cardiac autonomic activity, heartbeat perception, emotion processing, and levels of autistic traits in a group of college students. Cardiac ANS at baseline and during an emotional picture task was measured, and a heartbeat perception task was used to assess interoceptive accuracy (IA). Questionnaires then assessed autistic traits, alexithymia (difficulties processing one’s own emotions), and emotion recognition. Consistent with past work, greatest heart rate deceleration was seen to negative images. In the overall sample, no correlations were found between cardiac ANS, IA, autistic traits, and aspects of emotion processing, but when examining individuals high and low on autistic traits separately, distinct associations were found. Within the group of participants with elevated autistic traits, greater baseline respiratory sinus arrhythmia (RSA) was predictive of lower levels of alexithymia and autistic traits, as well as higher IA, but these associations were not seen in participants low on autistic traits. These findings suggest that variability in autistic traits in a non-autistic sample can lead to differential relations between cardiac autonomic responses, awareness of one’s cardiac responses, and emotion processing.

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10. Strand M. Eggs, sugar, grated bones : colour-based food preferences in autism, eating disorders, and beyond. Medical humanities. 2020.

In 1913, eccentric French composer Erik Satie wrote a fragmentary, diary-like essay where he depicted a strikingly rigid diet consisting solely of white foods : eggs, sugar, coconuts, rice, cream cheese, fuchsia juice and so on. Satie’s brief essay has later been used as one of many puzzle pieces in attempts to retrospectively diagnose him with autism spectrum disorder. With Satie’s white meal as a starting point, this paper explores colour-based food preferences and selective eating in clinical and non-clinical populations, with a special focus on autism spectrum disorder and avoidant/restrictive food intake disorder (ARFID). General colour preferences and their causes as well as the impact of colour on taste and food identification are also explored. Selective eating during childhood is immensely common and does not generally lead to disordered eating in the long run, although subgroups may experience rigidity around food of a more enduring nature. Problems related to eating were repeatedly described in Kanner’s original 1943 autism case series and continue to be common in autism. Most studies on eating and sensory sensitivity in autism show that the texture and consistency of the food are the most common factors behind selective eating. In contrast, colour-based food preferences appear to be relatively rare, although numerous anecdotal reports exist. Foods that are white or colourless may be particularly appealing or tolerable for individuals with sensory hypersensitivity, which can occur in autism or ARFID. Ultimately, in the case of Erik Satie, this paper concludes that his description of a strictly white diet should not be read as an autobiographical account but rather as an ironic take on contemporary symbolist literature, with the famously decadent all-black dinner party in French novelist Joris-Karl Huysmans’ A Rebours (1884 ; also known as Against Nature) as an obvious source of inspiration.

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11. West KL, Roemer EJ, Northrup JB, Iverson JM. Profiles of Early Actions and Gestures in Infants With an Older Sibling With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2020 ; 63(4) : 1195-211.

Purpose Infants with autism spectrum disorder (ASD) produce fewer play actions and gestures than neurotypical infants (e.g., Mastrogiuseppe et al., 2015 ; Veness et al., 2012 ; Zwaigenbaum et al., 2005). The purpose of this study was to investigate whether different "types" of actions and gestures are more or less likely to develop atypically in ASD. Method We examined eight types of actions and gestures longitudinally from ages 8 to 14 months in 80 infants with a heightened risk for developing ASD by virtue of having an affected older sibling (high risk [HR] ; e.g., Ozonoff et al., 2011) and 25 infants with no such familial risk (low risk). Data were collected using the MacArthur-Bates Communicative Development Inventories (Fenson et al., 1994, 1993). Results HR infants later diagnosed with ASD showed less growth across nearly all types of actions and gestures compared to the low-risk comparison group. Importantly, these HR infants who were later diagnosed with ASD also exhibited reduced growth in frequent deictic gestures and in actions that involve object manipulation relative to HR infants with non-ASD language delay. Conclusions During infancy, it is challenging for clinicians to distinguish ASD from other early communicative delays (e.g., Camarata, 2014). Our results indicate that deictic gestures, as well as actions and gestures involving object manipulation, may be useful targets of surveillance strategies for HR infants and could support early detection efforts for ASD.

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12. 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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