Pubmed du 04/05/24

Pubmed du jour

1. Clarke L, O’Neill N, Patel B, Steeman S, Segal G, Merrell SB, Gisondi MA. Trainee advocacy for medical education on the care of people with intellectual and/or developmental disabilities: a sequential mixed methods analysis. BMC Med Educ. 2024; 24(1): 491.

BACKGROUND: Medical trainees (medical students, residents, and fellows) are playing an active role in the development of new curricular initiatives; however, examinations of their advocacy efforts are rarely reported. The purpose of this study was to understand the experiences of trainees advocating for improved medical education on the care of people with intellectual and/or developmental disabilities. METHODS: In 2022-23, the authors conducted an explanatory, sequential, mixed methods study using a constructivist paradigm to analyze the experiences of trainee advocates. They used descriptive statistics to analyze quantitative data collected through surveys. Participant interviews then yielded qualitative data that they examined using team-based deductive and inductive thematic analysis. The authors applied Kern’s six-step approach to curriculum development as a framework for analyzing and reporting results. RESULTS: A total of 24 participants completed the surveys, of whom 12 volunteered to be interviewed. Most survey participants were medical students who reported successful advocacy efforts despite administrative challenges. Several themes were identified that mapped to Steps 2, 4, and 5 of the Kern framework: « Utilizing Trainee Feedback » related to Needs Assessment of Targeted Learners (Kern Step 2); « Inclusion » related to Educational Strategies (Kern Step 4); and « Obstacles », « Catalysts », and « Sustainability » related to Curriculum Implementation (Kern Step 5). CONCLUSIONS: Trainee advocates are influencing the development and implementation of medical education related to the care of people with intellectual and/or developmental disabilities. Their successes are influenced by engaged mentors, patient partners, and receptive institutions and their experiences provide a novel insight into the process of trainee-driven curriculum advocacy.

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2. Cohenour T, Dickinson A, Jeste S, Gulsrud A, Kasari C. Patterns of spontaneous neural activity associated with social communication abilities among infants and toddlers showing signs of autism. Eur J Neurosci. 2024.

Early disruptions to social communication development, including delays in joint attention and language, are among the earliest markers of autism spectrum disorder (autism, henceforth). Although social communication differences are a core feature of autism, there is marked heterogeneity in social communication-related development among infants and toddlers exhibiting autism symptoms. Neural markers of individual differences in joint attention and language abilities may provide important insight into heterogeneity in autism symptom expression during infancy and toddlerhood. This study examined patterns of spontaneous electroencephalography (EEG) activity associated with joint attention and language skills in 70 community-referred 12- to 23-month-olds with autism symptoms and elevated scores on an autism diagnostic instrument. Data-driven cluster-based permutation analyses revealed significant positive associations between relative alpha power (6-9 Hz) and concurrent response to joint attention skills, receptive language, and expressive language abilities. Exploratory analyses also revealed significant negative associations between relative alpha power and measures of core autism features (i.e., social communication difficulties and restricted/repetitive behaviors). These findings shed light on the neural mechanisms underlying typical and atypical social communication development in emerging autism and provide a foundation for future work examining neural predictors of social communication growth and markers of intervention response.

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3. Garcia JM, Hahs-Vaughn D, Murray M, Perry C, Brazendale K, Rice DJ, Fukuda DH. The physical and psychosocial benefits of a family judo program for parents of children with Autism Spectrum Disorder: A pilot study. Disabil Health J. 2024: 101631.

BACKGROUND: Parents of children with Autism Spectrum Disorder (ASD) tend to have high levels of stress and poor health habits. There is a lack of interventions that focus on improving health outcomes in parents of children with ASD. OBJECTIVE: To examine the physical and psychosocial effects of a family-based judo program on parents of children diagnosed with ASD. METHODS: This study utilized a pre-post single group design. Eighteen parent-child dyads participated in a 14-week judo program for families of children with ASD. Judo sessions were held once a week for 45 min. Parents wore wrist accelerometers to assess physical activity/sleep quality, and completed surveys regarding self-reported stress levels pre- and post-judo. Parents also completed open-ended questions regarding their experience in the program. Paired sample t-tests were conducted to examine changes in stress, physical activity, and sleep quality from pre-to post-program. RESULTS: Both a decrease in parental stress (47.77 vs. 41.61, p < 0.01) and an increase in minutes per day of physical activity (35.49 vs 45.94, p = 0.002) were observed from baseline to post-program. Fourteen of the 18 parents (78 %) reported at least one psychosocial benefit (e.g. increased self-confidence) or physical health benefit (e.g. increased physical activity) from participation in the program. CONCLUSIONS: A family judo program may provide health benefits, such as reducing stress levels and increasing physical activity in parents of children with ASD. Further research involving larger sample sizes is necessary to better determine the effects of judo on both parents and their children with ASD.

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4. Janes A, McClay E, Gurm M, Boucher TQ, Yeung HH, Iarocci G, Scheerer NE. Predicting Social Competence in Autistic and Non-Autistic Children: Effects of Prosody and the Amount of Speech Input. J Autism Dev Disord. 2024.

PURPOSE: Autistic individuals often face challenges perceiving and expressing emotions, potentially stemming from differences in speech prosody. Here we explore how autism diagnoses between groups, and measures of social competence within groups may be related to, first, children’s speech characteristics (both prosodic features and amount of spontaneous speech), and second, to these two factors in mothers’ speech to their children. METHODS: Autistic (n = 21) and non-autistic (n = 18) children, aged 7-12 years, participated in a Lego-building task with their mothers, while conversational speech was recorded. Mean F0, pitch range, pitch variability, and amount of spontaneous speech were calculated for each child and their mother. RESULTS: The results indicated no differences in speech characteristics across autistic and non-autistic children, or across their mothers, suggesting that conversational context may have large effects on whether differences between autistic and non-autistic populations are found. However, variability in social competence within the group of non-autistic children (but not within autistic children) was predictive of children’s mean F0, pitch range and pitch variability. The amount of spontaneous speech produced by mothers (but not their prosody) predicted their autistic children’s social competence, which may suggest a heightened impact of scaffolding for mothers of autistic children. CONCLUSION: Together, results suggest complex interactions between context, social competence, and adaptive parenting strategies in driving prosodic differences in children’s speech.

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5. Lai W, Zhao Y, Chen Y, Dai Z, Chen R, Niu Y, Chen X, Chen S, Huang G, Shan Z, Zheng J, Hu Y, Chen Q, Gong S, Kang S, Guo H, Ma X, Song Y, Xia K, Wang J, Zhou L, So KF, Wang K, Qiu S, Zhang L, Chen J, Shi L. Autism patient-derived SHANK2B(Y29X) mutation affects the development of ALDH1A1 negative dopamine neuron. Mol Psychiatry. 2024.

Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneity of disease phenotypes, possibly due to functional diversity of generated isoforms. SHANK2, a causative gene in ASD, demonstrates this phenomenon, but there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here, we report a point mutation on SHANK2, which is found in a patient with autism, located on exon of the SHANK2B transcript variant (NM_133266.5), hereby SHANK2B(Y29X). This mutation results in an early stop codon and an aberrant splicing event that impacts SHANK2 transcript variants distinctly. Induced pluripotent stem cells (iPSCs) carrying this mutation, from the patient or isogenic editing, fail to differentiate into functional dopamine (DA) neurons, which can be rescued by genetic correction. Available SMART-Seq single-cell data from human midbrain reveals the abundance of SHANK2B transcript in the ALDH1A1 negative DA neurons. We then show that SHANK2B(Y29X) mutation primarily affects SHANK2B expression and ALDH1A1 negative DA neurons in vitro during early neuronal developmental stage. Mice knocked in with the identical mutation exhibit autistic-like behavior, decreased occupancy of ALDH1A1 negative DA neurons and decreased dopamine release in ventral tegmental area (VTA). Our study provides novel insights on a SHANK2 mutation derived from autism patient and highlights SHANK2B significance in ALDH1A1 negative DA neuron.

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6. Međaković J, Čivljak A, Zorčec T, Vučić V, Ristić-Medić D, Veselinović A, Čivljak M, Puljak L. Perceptions on support, challenges and needs among parents and caregivers of children with developmental disabilities in Croatia, North Macedonia and Serbia: a cross-sectional study. BMC Pediatr. 2024; 24(1): 297.

BACKGROUND: Parents/caregivers of children with developmental disabilities (CDD) have a wide range of support needs and there are various interventions available. Support, challenges, and needs among parents/caregivers of CDD likely vary in different geographical settings. This study aimed to analyze the perceptions of support, challenges, and needs among parents/caregivers of CDD in Croatia, North Macedonia, and Serbia. METHODS: We conducted a cross-sectional study in March-April 2023 within the Erasmus + SynergyEd project. The eligible participants were parents and caregivers of CDD in Croatia, North Macedonia, and Serbia, who filled out a modified Caregiver Needs Survey online. RESULTS: Among 953 participants, 542 (57%) were from Croatia, 205 (21%) were from North Macedonia and 206 (22%) were from Serbia. The most common diagnosis of participants’ children was autism spectrum disorder (26%). The child most often received the first diagnosis at the median of 2 years, diagnosed by a team of professionals. More than half (58%) of children attended preschool and public school, while 22% did not attend any schooling. Additional support from the state/city/county was received by 66% of CDD. Most participants declared not participating in association/organization for family support. Participants mostly (68%) used experts who work with the child as a source of information about their child’s condition, followed by the Internet (53%). In the last 12 months, 60% of participants had difficulties with the availability of services in their area or problems getting appointments. The biggest problem in getting support was ensuring the child’s basic rights were protected. Participants stated that ensuring greater rights for CDD was the greatest need for their families. CONCLUSION: Parents/caregivers of CDD in Croatia, North Macedonia, and Serbia faced multiple challenges, but most of them were satisfied with the services provided to their children. Future efforts to develop policies and services related to CDD should consider the opinions of their parents/caregivers and disparities in access to services.

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7. Miller C, Kieling RR, Ziegler B, Giesta JM, Signorini AV, Pires GQ, Feldens L, Ceza MR, Adami MR, Kieling CO, Goldani HAS. Is neurodevelopment impaired in Brazilian children with intestinal failure on prolonged parenteral nutrition? A single center study. Pediatr Surg Int. 2024; 40(1): 120.

PURPOSE: To assess the neurodevelopment outcomes of children younger than 42 months of age with intestinal failure (IF) using prolonged parenteral nutrition (PN) followed by a Pediatric Multidisciplinary Intestinal Rehabilitation Program from a public tertiary hospital in Brazil. METHODS: Bayley III scale was administered in children aged 2 to 42 months with IF and receiving PN for more than 60 days. Composite scores in cognitive, motor, and language domains were analyzed. Developmental delay was defined as a performance 2 standard deviations (SD) below the average at the 3 domains. Association between Bayley III composite scores and clinical variables related to IF were tested. RESULTS: Twenty-four children with median (IQR) age of 17.5 months (9-28.5) were studied, 58.3% were male. Developmental delay was found in 34%, 33% and 27% of the patients in cognitive, motor, and language domains, respectively. There was no significant association between the Bayley-III composite scores and length of hospitalization, prematurity, and number of surgical procedures with anesthesia. CONCLUSION: The study demonstrated impairments in the cognitive, motor and language domains in approximately one-third of young patients with IF on prolonged PN.

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8. Taylor JL, Sullivan V, Bishop SL, Zheng S, Adams RE. Associations between Social Experiences and Psychological Health for Autistic Youth with Low IQ. J Autism Dev Disord. 2024.

PURPOSE: Social experiences are consistently associated with psychological health among autistic individuals. However, most extant studies on this topic exclude individuals with autism who have lower IQ or are otherwise unable to self-report. The current study addresses this gap by examining associations of negative peer experiences and social participation with psychological health among autistic youth with low IQ. METHODS: An online survey was collected from 268 parents of autistic adolescents and adults ages 15-25. Negative peer experiences included measures of peer victimization and being ignored. Social participation was assessed by the amount of participation and parents’ perceptions of whether their youth felt the amount of participation was meeting their needs. Psychological health was assessed by parents’ report of their youth’s psychological quality of life, as well as whether they felt their son/daughter was currently depressed. RESULTS: Results suggested low rates of social participation in this sample, with relatively high rates of being ignored. Regression analysis found that lower rates of peer victimization and more activities in which parents perceived that the amount of time was meeting their youth’s needs was associated with higher psychological quality of life and lower likelihood that parents felt their son/daughter was depressed. CONCLUSION: Though youth with autism and low IQ are often excluded from interventions aimed at improving social experiences, these findings suggest that promoting positive social experiences and ameliorating negative ones might be an avenue to improving psychological health in this group.

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9. Xavier JS, Orsati FT, Laurence PG, Barbosa LK, Gouveia AS, D’Antino MEF, Lukasova K, Macedo EC, Schwartzman JS. Insights into Rett Syndrome girls’ receptive vocabulary through eye movements and parental perception. Eur J Paediatr Neurol. 2024; 51: 1-8.

OBJECTIVE: This study evaluated the receptive vocabulary of girls diagnosed with Rett Syndrome (RS) by employing eye-tracking technology and examined how these objective measures compared with parents’ perceptions of their daughters’ language abilities. METHOD: Fourteen girls with RS and eleven typically developing peers participated. Instruments included the Kerr Scale, a parental questionnaire on communication skills, the Peabody Picture Vocabulary Test – PPVT-4, and eye-tracking equipment. The PPVT-4’s initial 12 cards, each displaying four images, were presented on screen for 5 s for the child’s initial inspection. Subsequently, the same card was shown for 5 s with instructions to identify the picture matching the word, repeated three times in a randomized order. RESULTS: Eye-tracking assessments revealed that girls with RS with less severe symptoms, performed below typically developing peers with aged 3-4 years. The number of eye fixations emerged as a reliable metric for assessing their performance. A positive correlation was found between parental reports of their daughters’ vocabulary knowledge and their ability to identify the correct stimulus, suggesting comprehension and active engagement in the testing process. CONCLUSION: This study presents a pioneering approach by combining parental perceptions with eye-tracking measures to assess receptive vocabulary in girls diagnosed with Rett Syndrome. Despite showing lower performance levels compared to significantly younger peers, the findings suggest that these individuals use less effectively eye contact as a mode of communication.

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