Pubmed du 25/07/23
1. Bodde AE, White DA, Forseth B, Hastert M, Washburn R, Donnelly J, Sullivan D, Ptomey LT. Parent factors associated with BMI, diet, and physical activity of adolescents with intellectual and developmental disabilities. Disabil Health J;2023 (Jul 7):101507.
BACKGROUND: Adolescents with intellectual and developmental disabilities (IDD) experience overweight and obesity (OW/OB) up to 1.8 times the rate of their typically developing peers. Parents may influence adolescent weight management behaviors in this population, but the association between parent factors and adolescent weight management behaviors is unclear. OBJECTIVE: To examine the associations between parent BMI and sociodemographic characteristics with adolescents’ BMI, diet quality, daily energy intake, moderate to vigorous physical activity (MVPA), and sedentary behavior. METHODS: This study analyzed baseline data from an 18-month randomized controlled weight loss trial for adolescents with IDD. We assessed parent BMI (kg/m(2)) and sociodemographic factors, and adolescent BMI z-score, MVPA, sedentary time, daily energy intake, and diet quality. Associations between parent and adolescent factors were assessed with Pearson, Spearman or Kendall Tau-b correlations; mean differences for categorical outcomes were assessed with independent samples t-tests/Mann-Whitney U tests or ANOVA/Kruskall-Wallis tests. RESULTS: Ninety-five adolescent and parent dyads were included. Parent BMI was positively correlated with adolescent BMI z-score (n = 94: r(s) = 0.37, p < 0.01). Household income was inversely correlated with adolescent BMI z-score (n = 95: T(b) = -0.18, p = 0.02). Parents with less than a bachelor's degree had adolescents with higher BMI z-scores than those with bachelor's or higher (2.1 ± 0.5 vs. 1.8 ± 0.5, p = 0.02) as well as higher sedentary behavior (n = 28, 515.2 ± 102.6 min/day vs. n = 40, 463.9 ± 148.1 min/day, p = 0.02). CONCLUSION: We found parent BMI, income, and education associated with adolescent BMI z-score. These findings contribute to the sparse literature on parental factors associated with OW/OB in this population. CLINICAL TRIALS NUMBER: NCT02561754.
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2. Davide G, Rebecca C, Irene P, Luciano C, Francesco R, Marta N, Miriam O, Natascia B, Pierluigi P. Epigenetics of Autism Spectrum Disorders: A Multi-level Analysis Combining Epi-signature, Age Acceleration, Epigenetic Drift and Rare Epivariations Using Public Datasets. Curr Neuropharmacol;2023 (Jul 25)
BACKGROUND: Epigenetics of Autism Spectrum Disorders (ASD) is still an understudied field. The majority of the studies on the topic used an approach based on mere classification of cases and controls. OBJECTIVE: The present study aimed at providing a multi-level approach in which different types of ep- igenetic analysis (epigenetic drift, age acceleration) are combined. METHODS: We used publicly available datasets from blood (n = 3) and brain tissues (n = 3), separately. Firstly, we evaluated for each dataset and meta-analyzed the differential methylation profile between cas- es and controls. Secondly, we analyzed age acceleration, epigenetic drift and rare epigenetic variations. RESULTS: We observed a significant epi-signature of ASD in blood but not in brain specimens. We did not observe significant age acceleration in ASD, while epigenetic drift was significantly higher com- pared to controls. We reported the presence of significant rare epigenetic variations in 41 genes, 35 of which were never associated with ASD. Almost all genes were involved in pathways linked to ASD etiopathogenesis (i.e., neuronal development, mitochondrial metabolism, lipid biosynthesis and anti- gen presentation). CONCLUSION: Our data support the hypothesis of the use of blood epi-signature as a potential tool for diagnosis and prognosis of ASD. The presence of an enhanced epigenetic drift, especially in brain, which is linked to cellular replication, may suggest that alteration in epigenetics may occur at a very early developmental stage (i.e., fetal) when neuronal replication is still high.
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3. Jiang P, Zhou L, Zhao L, Fei X, Wang Z, Liu T, Tang Y, Li D, Gong H, Luo Y, Li S, Yang H, Liao H, Fan X. Puerarin attenuates valproate-induced features of ASD in male mice via regulating Slc7a11-dependent ferroptosis. Neuropsychopharmacology;2023 (Jul 25)
Autism spectrum disorder (ASD) is a complicated, neurodevelopmental disorder characterized by social deficits and stereotyped behaviors. Accumulating evidence suggests that ferroptosis is involved in the development of ASD, but the underlying mechanism remains elusive. Puerarin has an anti-ferroptosis function. Here, we found that the administration of puerarin from P12 to P15 ameliorated the autism-associated behaviors in the VPA-exposed male mouse model of autism by inhibiting ferroptosis in neural stem cells of the hippocampus. We highlight the role of ferroptosis in the hippocampus neurogenesis and confirm that puerarin treatment inhibited iron overload, lipid peroxidation accumulation, and mitochondrial dysfunction, as well as enhanced the expression of ferroptosis inhibitory proteins, including Nrf2, GPX4, Slc7a11, and FTH1 in the hippocampus of VPA mouse model of autism. In addition, we confirmed that inhibition of xCT/Slc7a11-mediated ferroptosis occurring in the hippocampus is closely related to puerarin-exerted therapeutic effects. In conclusion, our study suggests that puerarin targets core symptoms and hippocampal neurogenesis reduction through ferroptosis inhibition, which might be a potential drug for autism intervention.
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4. Kalb LG, Kramer JM, Goode TD, Black SJ, Klick S, Caoili A, Klipsch S, Klein A, Urquilla MP, Beasley JB. Evaluation of telemental health services for people with intellectual and developmental disabilities: protocol for a randomized non-inferiority trial. BMC Health Serv Res;2023 (Jul 25);23(1):795.
BACKGROUND: Roughly 40% of those with intellectual/developmental disabilities (IDD) have mental health needs, twice the national average. Unfortunately, outpatient mental health services are often inaccessible, increasing reliance on hospital-based services. While telemental health services hold potential to address this gap, little is known about the effectiveness of telemental health for the diversity of persons with IDD, especially as it relates to crisis prevention and intervention services. Accordingly, the aims of this study are to: (1) compare telemental health versus in-person crisis prevention and intervention services among people with IDD; and (2) understand if outcomes vary across subpopulations, in order to identify potential disparities. METHODS: This study will take place within START (Systemic, Therapeutic, Assessment, Resources, and Treatment), a national evidence-based model of mental health crisis prevention and intervention for people with IDD. A total of 500 youth and adults, located across nine states, will be randomized 1:1 to telemental health vs. in-person. Participant inclusion criteria are ages 12-45 years, living in a family setting, and newly enrolled (within 90 days) to START. Outcomes will be assessed, using a non-inferiority design, for up to 1 year or until discharge. The intervention is comprised of four components: (1) outreach; (2) consultation/coping skills; (3) intake/assessment; and, (4) 24-hour crisis response. The in-person condition will deliver all components in-person. The telemental health condition will deliver components 1 & 2, via telephonic or other communication technology, and components 3 & 4 in-person. Outcomes include mental health crisis contacts, mental health symptoms, emergency psychiatric service use, perceived quality of mental healthcare, and time to discharge. DISCUSSION: To our knowledge, this will be the first trial of a telemental health crisis program for the IDD population. The study will be executed by an interdisciplinary team of experts that includes persons with lived experience of disability. Understanding the benefits of specific telemental health methods has important implications to the design of interventions. This telemental health study offers promise to address disparities in access to mental health care for people with IDD across diverse racial, ethnic, linguistic, and cultural groups. TRIAL REGISTRATION: Clinicaltrials.gov ( #NCT05336955 ; Registration Date: 4/20/2022).
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5. Krieger B, Piškur B, Beurskens A, Moser A. Parents’ perceptions: Participation patterns and desires for change for children and adolescents with autism spectrum disorder-A descriptive population-based study from Switzerland. Child Care Health Dev;2023 (Jul 24)
BACKGROUND: Low participation in youth with autism spectrum disorder (ASD) has been reported, but age-related and contextual information is rare. OBJECTIVE: This study aimed to describe, from parental perspectives, two patterns of participation and parental desires for change of children (age: 5-11) and adolescents (age: 12-17) with ASD in Switzerland. METHOD: A cross-sectional design used the German version of the Participation and Environment Measure-Child and Youth to describe and juxtapose the participation results of 60 children and 55 adolescents with ASD in 45 activities at home, school and in the community and parental desires for change. RESULTS: Participation patterns differed between settings and age groups. Both groups were found to participate most at home, followed by school, whereas community participation was either low or nonexistent. Children were more involved at home than adolescents, while school involvement was higher than participation frequency in both age groups. Community participation frequency was generally low but higher in children than in adolescents, while involvement was similarly low in both groups. Half the parents expressed desire for change with three tendencies: (1) widespread desire for change at home due to high support needs, (2) parents of adolescents expressed more desire for change in all settings than those of children and (3) all parents mainly desired to increase participation frequency and involvement. CONCLUSIONS: This study informs research and social, health and community service providers to further reshape their programmes to meet parental needs and increase the participation of youth with ASD.
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6. Kustov GV, Rider FK, Zinchuk MS, Semenovykh NS, Akzhigitov RG, Guekht AB. [Psychogenic non-epileptic seizures in autistic spectrum disorder]. Zh Nevrol Psikhiatr Im S S Korsakova;2023;123(7):112-117.
Psychogenic non-epileptic seizures (PNES) are paroxysmal conditions that resemble epileptic seizures, but are not accompanied by epileptiform activity on the electroencephalogram and are not associated with other neurological or somatic disorders. Unrecognized PNES places a heavy burden on the patient and family, and on the health care system. Among many possible combinations of PNES with psychiatric disorders, autistic spectrum disorders are the least studied. This article presents a case of a 19-year-old female patient with autistic spectrum disorder and paroxysmal events and the presence of potentially epileptogenic changes in the brain. A multidisciplinary approach made it possible to diagnose PNEP in the patient.
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7. Lee JH, Hwang H, Yun J, Kim HJ, Yoo SK, Chung US, Han DH. Developing an Attention Assessment Tool for Individuals With Autism Spectrum Disorder Using Timbre, Rhythm, and Pitch. J Korean Med Sci;2023 (Jul 24);38(29):e228.
BACKGROUND: Music is regarded as a beneficial tool for assessing the clinical symptoms and communication skills in individuals with autism spectrum disorder (ASD) or autism. The present study developed a music-based attention test (MAT) for individuals with autism using music parameters and the algorithm of the comprehensive attention test (CAT). METHODS: We recruited 51 autistic individuals and 50 neurotypical individuals to participate in the CAT, MAT, and social intelligence tests. The reliability and validity of the MAT were assessed using exploratory factor analysis, concurrent validity, and criterion-related validity. RESULTS: The MAT had sound internal consistency (high Cronbach’s α = 0.948). In addition, the MAT had suitable concurrent validity in the correlation between CAT and MAT, as well as good criterion validity when attention was measured using the MAT and was compared between autistic individuals and neurotypical individuals. Attention evaluated using the MAT was associated with the social quotient in individuals with autism. CONCLUSIONS: The MAT could be a relevant tool for gauging attention in individuals with ASD. Furthermore, attention determined using the MAT may be correlated with social quotient in autistic individuals. Future studies should consider that using music in the field of attention could improve the social quotient of individuals with autism.
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8. Shankar VG, Klann E. Size matters: Fighting repeat expansion size in fragile X syndrome using antisense oligonucleotides. Proc Natl Acad Sci U S A;2023 (Jul 25);120(30):e2309678120.
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9. Wang L, Xiao S, Jiang C, Hou Q, Chan AHD, Wong PCM, Liu F. The form and function processing of lexical tone and intonation in tone-language-speaking children with autism spectrum disorder. J Acoust Soc Am;2023 (Jul 1);154(1):467-481.
Studies on how the form versus function aspect of tone and intonation is processed by autistic individuals have mainly focused on speakers of non-tonal languages (e.g., English) with equivocal results. While the samples’ heterogeneous cognitive abilities may be contributing factors, the phenotype of tone and intonation processing in autism may also vary with one’s language background. Thirty-eight cognitively able autistic and 32 non-autistic Mandarin-speaking children completed tone and intonation perception tasks, each containing a function and form condition. Results suggested that the abilities to discriminate tone and intonation were not impaired at either the form or function level in these autistic children, and that these abilities were positively associated with one another in both autistic and non-autistic groups. The more severe the autism symptoms, the worse the form- and function-level of tone and intonation processing. While enhanced tone and intonation processing has been found in a subgroup of autistic children, it may not be a general characteristic of the autistic population with long-term tone language experience. These findings reveal typical tone and intonation processing at both the form and function levels in cognitively able Mandarin-speaking autistic children and provide evidence for associated tone and intonation processing abilities across levels.
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10. Zovko M, Šimleša S, Olujić Tomazin M. Parenting stress, coping strategies and social support for mothers of preschool children with autism spectrum disorder in the Republic of Croatia. Clin Child Psychol Psychiatry;2023 (Jul 25):13591045231191802.
Parents of children with autism spectrum disorder (ASD) report experiencing more parenting stress than parents of children with typical development or other developmental disorders. Eighty mothers of preschool children with ASD completed questionnaires with the purpose of exploring the extent and characteristics of parenting stress and the possibility of predicting parenting stress based on the mother’s coping strategies, perceived social and professional support, the severity of the child’s symptoms, and certain sociodemographic characteristics. The results show that 19% of the mothers had clinically significant parental stress. Most of the mothers experienced increased stress levels related to the following: poor interactions with their children (34%), the child’s demandingness (27%), and their personal ability to cope with parental distress (20%). The predictors significantly explained 42.8% of the variance in total parental stress, with support from friends and severity of the child’s symptoms being significant unique contributors.