Pubmed du 12/09/22
1. Bulut Ö F, Tanir Y. A Case of Priapism in a Child With Autism Spectrum Disorder, Possibly Due to Risperidone Treatment With Addition of Atomoxetine. Clin Neuropharmacol;2022 (Sep 12)
OBJECTIVES: Risperidone is an effective drug used for the treatment of irritability in children with autism spectrum disorder (ASD). Atomoxetine (ATX) is a well-tolerated drug used in first-line therapy in children with attention-deficit/hyperactivity disorder (ADHD). However, uncommon adverse effects of risperidone and ATX are a concern among mental health professionals. To our knowledge, this is the first case report of priapism after addition of ATX upon existing treatment with risperidone. METHODS: Written informed consent for publication was obtained from the patient and his parents, and their identities were concealed for ethical reasons. RESULTS: Here, we report a case of priapism as an adverse effect of ATX and risperidone treatment in a 7-year-old boy with ASD and comorbid ADHD. In this case, priapism was not observed with risperidone until ATX was added. CONCLUSIONS: Priapism is a condition viewed as a medical emergency. Although risperidone-induced priapism is a rare phenomenon, it is advised for clinicians to consider the drug interactions in treatment of ASD and ADHD in terms of early diagnosis and intervention.
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2. Colvin S, Lea N, Zhang Q, Wienisch M, Kaiser T, Aida T, Feng G. 341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model. eNeuro;2022 (Sep-Oct);9(5)
Fragile X syndrome (FXS) is a leading monogenic cause of intellectual disability and autism spectrum disorders, spurring decades of intense research and a multitude of mouse models. So far, these models do not recapitulate the genetic underpinning of classical FXS-CGG repeat-induced methylation of the Fmr1 locus-and their findings have failed to translate into the clinic. We sought to answer whether this disparity was because of low repeat length and generated a novel mouse line with 341 repeats, Fmr1(hs341) , which is the largest allele in mice reported to date. This repeat length is significantly longer than the 200 repeats generally required for methylation of the repeat tract and promoter region in FXS patients, which leads to silencing of the FMR1 gene. Bisulfite sequencing fails to detect the robust methylation expected of FXS in Fmr1(hs341) mice. Quantitative real-time PCR and Western blotting results also do not resemble FXS and instead produce a biochemical profile consistent with the fragile X-associated premutation disorders. These findings suggest that repeat length is unlikely to be the core determinant preventing methylation in mice, and other organisms phylogenetically closer to humans may be required to effectively model FXS.
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3. Cooper K, Mandy W, Butler C, Russell A. Phenomenology of gender dysphoria in autism: a multiperspective qualitative analysis. J Child Psychol Psychiatry;2022 (Sep 12)
BACKGROUND: Autistic people are overrepresented in gender clinic settings, but limited evidence is available to guide clinical decision making for this patient group. We aimed to generate a comprehensive understanding of the phenomenology of gender dysphoria in autistic people. METHODS: We conducted a multi-perspectival interpretative phenomenological analysis (IPA), from five different perspectives; autistic young people and adults with experience of gender dysphoria, parents of young people, and clinicians working with autistic people with gender dysphoria in both adult and young person settings (n = 68). RESULTS: IPA analysis resulted in two themes, ‘discovering gender identity’ and ‘the complexities of moving towards gender comfort’. Participants agreed that there was often an interaction between gender dysphoria and features of autism such as sensory sensitivities. There was relative consensus across groups about the need for autism adaptations to be made in gender clinics. Autistic adults were more likely to see autism as an important identity than young people, but both groups were clear that autism did not impair their understanding of gender. In contrast, some parents and clinicians working with young people expressed concern that autism did impact self-understanding. DISCUSSION: While the groups tended to agree on the ways in which particular features of autism can compound gender dysphoria, there were a range of perspectives on the ways in which autism impacted on self-knowledge. CONCLUSION: Recommendations for adaptations when working with autistic people with gender dysphoria are presented.
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4. Girolamo T, Rice ML. Language Impairment in Autistic Adolescents and Young Adults. J Speech Lang Hear Res;2022 (Sep 12);65(9):3518-3530.
PURPOSE: Little is known about the specific nature of language abilities of autistic adolescents and young adults with language impairment (LI), limiting our knowledge of developmental trajectories and ability to develop efficacious speech/language supports. An important first step is establishing proof of concept of identification of LI in this population, with considerations for feasibility of assessment. This research note describes such a study in a sample of autistic adolescents and young adults with LI. METHOD: Thirteen autistic adolescents and young adults completed an assessment protocol of age-referenced language and nonverbal cognitive assessments. Assessment took place once per year for 3 years; the first two assessments were conducted in person, and the final was conducted online due to the pandemic. All assessments included measures of overall language and morphosyntax; the third added measures of expressive and receptive vocabulary, verbal working memory, and nonverbal intelligence (NVIQ). Analysis included descriptives and comparison of individual performance with epidemiological criteria for LI. RESULTS: All participants qualified for LI, with overall receptive and expressive language scores persistently in the LI range. Other outcomes were variable. Some participants had nonword repetition and vocabulary abilities within age expectations, and some consistently showed adultlike morphosyntactic performance. NVIQ was variable, with no consistent associations with language outcomes. DISCUSSION: Our findings support the use of the current protocol, as implemented in person or online, to identify LI in autistic adolescents and young adults. This exploratory work is limited by a small sample and missing data. The findings contribute to our understanding of linguistic strengths and variability in the language skills of autistic young adults with LI.
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5. Healy S, Brewer B, Hoopes E, Paller A, Mayberry S, Maguire J, Daly J, Laxton P, Patterson F. Identifying the most proximal multi-level factors associated with meeting each of the 24-h movement behavior recommendations in a sample of autistic adults. Disabil Health J;2022 (Aug 11):101367.
BACKGROUND: Autistic adults have poorer 24-h movement behaviors, including lower levels of physical activity, more time spent being sedentary, and shorter sleep duration than neurotypical adults. Social ecological frameworks posit that 24-h movement behaviors are determined by multi-level domains; however, not known is which multi-level factors are most important to meeting each of the 24-h movement behavior guidelines among autistic adults. OBJECTIVE: This study examined the relative importance of a range of multi-level determinants on meeting guidelines for the 24-h movement behaviors of aerobic physical activity, sedentary behavior, and sleep. METHODS: We administered at cross-sectional electronic survey to a national self-selecting, convenience sample of autistic adults and caregivers of autistic adults residing in the USA. We used machine learning to examine the relative variable importance (VIMP) of 55 multi-level variables with meeting recommendations for physical activity, sedentary behavior, and sleep duration. VIMPs >0 indicate predictive variables/domains. RESULTS: A greater number of group activities attended in the last 3-months, and greater independence in completing activities of daily living were most important to meeting aerobic physical activity guidelines. Group activity participation and marital status were important to meeting sedentary behavior guidelines while having a fewer number of comorbidities was most important to achieving adequate sleep. CONCLUSIONS: These data support hypotheses about the role of family and social level interventions targeting movement behaviors in autistic adults.
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6. Marston E, Cho CC, Pridham K, McPherson AC, Polfuss M. Parenting styles and dimensions in parents of children with developmental disabilities. Res Nurs Health;2022 (Sep 12)
Parenting influences child development. There is limited research, however, related to parenting children who have developmental disabilities. The aims of this study were to: (1) describe the parenting styles and dimensions of parents of children with developmental disabilities and (2) assess differences in parenting styles and dimensions among parents of children with autism spectrum disorder (ASD), Down syndrome (DS), and spina bifida (SB). Secondary data analysis was conducted from a nationwide cross-sectional study of 496 parents of children aged 5-16 years with ASD (n = 180), DS (n = 156), or SB (n = 160). Parent scores indicated high use of the authoritative parenting style and associated parenting dimensions, mid-to-low use of the permissive parenting style, and low use of the authoritarian parenting style and associated dimensions. Variation in parenting styles and dimensions among parents was primarily related to the child’s diagnosis and family income. An unanticipated but positive finding was that parents with lower family incomes had significantly higher scores for the authoritative parenting style. Results from this study can inform future research that might inform clinical practice.
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7. Xu L, Fields NL, Greer JA, Tamplain PM, Bricout JC, Sharma B, Doelling KL. Socially assistive robotics and older family caregivers of young adults with Intellectual and Developmental Disabilities (IDD): A pilot study exploring respite, acceptance, and usefulness. PLoS One;2022;17(9):e0273479.
INTRODUCTION: The need for caregiver respite is well-documented for the care of persons with IDD. Social Assistive Robotics (SAR) offer promise in addressing the need for caregiver respite through ‘complementary caregiving’ activities that promote engagement and learning opportunities for a care recipient (CR) with IDD. This study explored the acceptability and usefulness of a SAR caregiver respite program responsive to feedback from both young adults with IDD and their older family caregivers (age 55+). METHOD: Young adults with IDD and caregiver dyads (N = 11) were recruited. A mixed methods research design was deployed in three phases: Phase I with four focus groups to inform the program design; Phase II for program demonstration and evaluation with pre- and post-surveys; and Phase III with post-program interviews for feedback and suggestions. RESULTS: Both young adults with IDD and their caregivers scored favorably the social presence of, social engagement, and satisfaction with robot Pepper. Though there was no significant improvement of caregiving burden/stress as well as well-being of the young adults with IDD based on surveys, results from interviews suggested that the SAR may offer physical/emotional respite to caregivers by providing companionship/friendship as well as promoting independence, safety/monitoring, and interactive engagement with children. DISCUSSION: SAR has potential in providing respite for older family caregivers. Future studies need a longer program design and larger sample size to develop a promising intervention and test its feasibility and efficacy.