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Healthcare (Basel, Switzerland) Jun 2024With autism first recognized in the 1940s, the early cohorts of autistic children are beginning to enter older adulthood. Little is known about the experiences and... (Review)
Review
With autism first recognized in the 1940s, the early cohorts of autistic children are beginning to enter older adulthood. Little is known about the experiences and outcomes of autistic older adults. In the general population, "successful aging" is a dominant model among gerontologists and is used to evaluate outcomes in older adulthood. This narrative review aims to provide a framework for understanding and supporting successful aging in older autistic adults. Using Fernández-Ballesteros' four-domain model of "aging well" we review knowledge on aging and autism by examining outcomes in health and functioning, cognitive and physical functioning, positive affect and control, and social participation and engagement. Findings indicate that outcomes in autistic older adults are generally poor, marked by increased medical conditions, low adaptive skills, elevated risk of cognitive decline, limited physical activity, high rates of mental health conditions, low quality of life, and reduced social or community participation. Patterns of challenges are similar across cognitive abilities and profiles of autistic traits. Challenges and next steps in aging and autism research are identified, and future directions for the field are discussed.
PubMed: 38921321
DOI: 10.3390/healthcare12121207 -
European Journal of Investigation in... May 2024The prevalence of diagnosed cases of autism has increased rapidly, which has raised interest in studying the variables related to the well-being of these families. The... (Review)
Review
The prevalence of diagnosed cases of autism has increased rapidly, which has raised interest in studying the variables related to the well-being of these families. The purpose of this paper is to review the recent literature on other variables related to family well-being, such as parenting styles. We conducted a systematic review using the PRISMA check list and bias assessment with the aim of analyzing if the concepts of autism, well-being and parenting style are related. We screened 755 references from relevant databases like Scopus, Pubmed, PscyInfo EBSCO, Web of Science and Dialnet, updated on May 2024. Sixteen full text articles and abstracts were read. It was identified that the authoritative parenting style, as well as those based on warmth, establishing relationships and emotional bonding, and low expressed emotion were positively related to family well-being. On the other hand, authoritarian, permissive and overprotective styles, as well as critical, punishing and training-based, were negatively associated with well-being and quality of family life.
PubMed: 38921067
DOI: 10.3390/ejihpe14060101 -
Behavioral Sciences (Basel, Switzerland) May 2024Despite the consensus that early identification leads to better outcomes for individuals with autism spectrum disorder (ASD), recent research reveals that the average...
Despite the consensus that early identification leads to better outcomes for individuals with autism spectrum disorder (ASD), recent research reveals that the average age of diagnosis in the Greek population is approximately six years. However, this age of diagnosis is delayed by an additional two years for families from lower-income or minority backgrounds. These disparities result in adverse impacts on intervention outcomes, which are further burdened by the often time-consuming and labor-intensive language assessments for children with ASD. There is a crucial need for tools that increase access to early assessment and diagnosis that will be rigorous and objective. The current study leverages the capabilities of artificial intelligence to develop a reliable and practical model for distinguishing children with ASD from typically-developing peers based on their narrative and vocabulary skills. We applied natural language processing-based extraction techniques to automatically acquire language features (narrative and vocabulary skills) from storytelling in 68 children with ASD and 52 typically-developing children, and then trained machine learning models on the children's combined narrative and expressive vocabulary data to generate behavioral targets that effectively differentiate ASD from typically-developing children. According to the findings, the model could distinguish ASD from typically-developing children, achieving an accuracy of 96%. Specifically, out of the models used, hist gradient boosting and XGBoost showed slightly superior performance compared to the decision trees and gradient boosting models, particularly regarding accuracy and F1 score. These results bode well for the deployment of machine learning technology for children with ASD, especially those with limited access to early identification services.
PubMed: 38920791
DOI: 10.3390/bs14060459 -
Cells Jun 2024Neurological and neuropsychiatric disorders pose substantial challenges to public health, necessitating a comprehensive understanding of the molecular mechanisms... (Review)
Review
Neurological and neuropsychiatric disorders pose substantial challenges to public health, necessitating a comprehensive understanding of the molecular mechanisms underlying their pathogenesis. In recent years, the focus has shifted toward the intricate world of non-coding RNAs (ncRNAs), a class of RNA molecules that do not encode proteins but play pivotal roles in gene regulation and cellular processes. This review explores the emerging significance of ncRNAs in the context of neurological and neuropsychiatric disorders, shedding light on their diverse functions and regulatory mechanisms. The dysregulation of various ncRNAs, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), has been implicated in the pathophysiology of conditions such as Alzheimer's disease, Parkinson's disease, schizophrenia, and mood disorders. This review delves into the specific roles these ncRNAs play in modulating key cellular processes, including synaptic plasticity, neuroinflammation, and apoptosis, providing a nuanced understanding of their impact on disease progression. Furthermore, it discusses the potential diagnostic and therapeutic implications of targeting ncRNAs in neurological and neuropsychiatric disorders. The identification of specific ncRNA signatures holds promise for the development of novel biomarkers for early disease detection, while the manipulation of ncRNA expression offers innovative therapeutic avenues. Challenges and future directions in the field are also considered, highlighting the need for continued research to unravel the complexities of ncRNA-mediated regulatory networks in the context of neurological and neuropsychiatric disorders. This review aims to provide a comprehensive overview of the current state of knowledge and stimulate further exploration into the fascinating realm of ncRNAs in the brain's intricate landscape.
Topics: Humans; RNA, Untranslated; Nervous System Diseases; Mental Disorders; RNA, Circular; Animals; RNA, Long Noncoding; Gene Expression Regulation; MicroRNAs
PubMed: 38920691
DOI: 10.3390/cells13121063 -
Acta Odontologica Latinoamericana : AOL Apr 2024Language disorders may interfere with social integration and affectpersonal development. Beca-use the balance of the stomatognathic system can interfere with language,...
UNLABELLED
Language disorders may interfere with social integration and affectpersonal development. Beca-use the balance of the stomatognathic system can interfere with language, it is important for speech therapy and dentistry to work together, providing multidisciplinar y Healthcare.
AIM
To analyze the 100 most frequently cited articles on language disorders in children and adolescents and assess the interplay with dentistry by means of a bibliometric analysis.
MATERIALS AND METHOD
A search of the 100 most frequently cited articles up to December 2021 on language disorders was performed in the Web of Science Core Collection database. Four researchers extracted the data on number of citations, title, authors, country, year of publication, journals, study design, prevalent clinical conditions, and area of expertise. The analyses were performed using VOSviewer and Excel.
RESULTS
The total number of citations ranged from 251 to 1,431. Four articles were cited more than 1,000 times. Bishop DVM (10 articles; 3,653 citations) and Tomblin JD (10 articles; 4,261 citations) were the most frequently cited authors. The institutions with the largest number of publications were the University of Oxford/England (11%) and the University of Kansas/USA (8%). Observational study design was the most frequent (77%). Autism spectrum disorder (18%) and dyslexia (14%) were the most broadly investigated clinical conditions. Speech-language pathology (32%) was the area of expertise with the largest number of articles, and none of the top 100 studies showed interplay with dentistry.
CONCLUSION
The 100 most widely cited articles on language disorders are mostly observational, mainly address autism spectrum disorder, and are in the field of speech-language pathology No study reported interplay with dentistry.
Topics: Bibliometrics; Humans; Child; Adolescent; Language Development Disorders; Dentistry
PubMed: 38920128
DOI: 10.54589/aol.37/1/68 -
Frontiers in Psychiatry 2024Augmentative alternative communication (AAC) devices or systems are often prescribed to minimally verbal or nonspeaking autistic individuals and other individuals with...
Augmentative alternative communication (AAC) devices or systems are often prescribed to minimally verbal or nonspeaking autistic individuals and other individuals with complex communication needs to facilitate communication or as an alternative to spoken language. AAC use can result in communication gains and improved quality of life for minimally verbal or nonspeaking individuals. Despite this, AAC abandonment is high, limiting societal participation of the individual on the autism spectrum with complex communication needs. Our study is a novel exploration of the barriers of AAC use from a multi-stakeholder perspective, and a qualitative analysis of similarities and differences between stakeholders. We conducted semi-structured interviews and focus groups with 30 parent-carers, educators and clinicians currently supporting AAC users in Western Australia and analysed the data using reflexive thematic analysis. Barriers from each stakeholder group were coded, resulting in 17 subthemes forming five main themes common to all stakeholders: Stakeholder Knowledge, Stakeholder Attitudes and Stigma, Resources, AAC User Engagement, and Device Fit. Contrasting perspectives included actual and perceived stigma associated with AAC use (parent-carers vs clinicians); different struggles with resources and knowledge (parent-carers vs clinicians and educators); and a lack of clinician communication in the processes that determined AAC-fit for school environments (educators only). Findings are discussed in the context of improving inter-stakeholder collaboration and capacity building in Australian health service and practice to better support minimally verbal or nonspeaking autistic individuals and individuals with complex communication needs. Suggestions are also offered for communication partner training.
PubMed: 38919639
DOI: 10.3389/fpsyt.2024.1385947 -
Environmental Epidemiology... Aug 2024Maternal nutrient intake may moderate associations between environmental exposures and children's neurodevelopmental outcomes, but few studies have assessed joint...
Prenatal air pollution and children's autism traits score: Examination of joint associations with maternal intake of vitamin D, methyl donors, and polyunsaturated fatty acids using mixture methods.
BACKGROUND
Maternal nutrient intake may moderate associations between environmental exposures and children's neurodevelopmental outcomes, but few studies have assessed joint effects. We aimed to evaluate whether prenatal nutrient intake influences the association between air pollutants and autism-related trait scores.
METHODS
We included 126 participants from the EARLI (Early Autism Risk Longitudinal Investigation, 2009-2012) cohort, which followed US pregnant mothers who previously had a child with autism. Bayesian kernel machine regression and traditional regression models were used to examine joint associations of prenatal nutrient intake (vitamins D, B12, and B6; folate, choline, and betaine; and total omega 3 and 6 polyunsaturated fatty acids, reported via food frequency questionnaire), air pollutant exposure (particulate matter <2.5 μm [PM], nitrogen dioxide [NO], and ozone [O], estimated at the address level), and children's autism-related traits (measured by the Social Responsiveness Scale [SRS] at 36 months).
RESULTS
Most participants had nutrient intakes and air pollutant exposures that met US standards. Bayesian kernel machine regression mixture models and traditional regression models provided little evidence of individual or joint associations of nutrients and air pollutants with SRS scores or of an association between the overall mixture and SRS scores.
CONCLUSION
In this cohort with a high familial likelihood of autism, we did not observe evidence of joint associations between air pollution exposures and nutrient intake with autism-related traits. Future work should examine the use of these methods in larger, more diverse samples, as our results may have been influenced by familial liability and/or relatively high nutrient intakes and low air pollutant exposures.
PubMed: 38919264
DOI: 10.1097/EE9.0000000000000316 -
Journal of Neurodevelopmental Disorders Jun 2024Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining...
BACKGROUND
Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining increasing relevance. Researchers note the relationship of sensory responsiveness in children on the autism spectrum to their motor, cognitive and social development. Current research reports combines the responsiveness to sensory stimuli also with the development of pretend play. Aim of this study was to verify the relationship between the level of development of pretend play and the level of sensory responsiveness in children on the autism spectrum.
METHODS
A study was conducted in a group of 63 children with a diagnosis of autism spectrum aged from 3 years and 7 months to 9 years and 3 months using: Pretend Play subscale from the Theory of Mind Mechanism Scale and Sensory Experiences Questionnaire version 2.1.
RESULTS
The results revealed that elevated sensory hyporesponsiveness predicted low pretend play skills in the group of participating children.
CONCLUSION
The study verified the contribution of the level of sensory hyporesponsiveness to explaining the atypical development of pretend play in children on the autism spectrum.
Topics: Humans; Autism Spectrum Disorder; Male; Female; Child, Preschool; Play and Playthings; Child; Child Development; Theory of Mind
PubMed: 38918693
DOI: 10.1186/s11689-024-09551-y -
Med (New York, N.Y.) Jun 2024Trofinetide was approved for the treatment of Rett syndrome based on the results of the phase 3, randomized, placebo-controlled, 12-week LAVENDER study. Rett syndrome is...
BACKGROUND
Trofinetide was approved for the treatment of Rett syndrome based on the results of the phase 3, randomized, placebo-controlled, 12-week LAVENDER study. Rett syndrome is a chronic disorder requiring long-term treatment. We report the efficacy and safety results of LILAC, a 40-week, open-label extension study of LAVENDER.
METHODS
Females with Rett syndrome aged 5-21 years received open-label treatment with trofinetide for 40 weeks. The primary endpoint was long-term safety of trofinetide; secondary endpoints included the change from baseline at week 40 in the Rett Syndrome Behaviour Questionnaire score and the Clinical Global Impression-Improvement score at week 40.
FINDINGS
Overall, 154 participants were enrolled and treated with trofinetide in LILAC. The most common adverse events in LILAC were diarrhea (74.7%), vomiting (28.6%), and COVID-19 (11.0%). Diarrhea was the most common adverse event leading to treatment withdrawal (21.4%). The Rett Syndrome Behaviour Questionnaire mean score (standard error) improvement from the LAVENDER baseline to week 40 in LILAC was -7.3 (1.62) and -7.0 (1.61) for participants treated with trofinetide and placebo in LAVENDER, respectively. Mean Clinical Global Impression-Improvement scores (standard error) at week 40 rated from the LILAC baseline were 3.1 (0.11) and 3.2 (0.14) for participants treated with trofinetide and placebo in LAVENDER, respectively.
CONCLUSIONS
Treatment with trofinetide for ≤40 weeks continued to improve symptoms of Rett syndrome. Trofinetide had a similar safety profile in LILAC as in LAVENDER.
FUNDING
The study was supported by Acadia Pharmaceuticals Inc. (San Diego, CA, USA). This trial was registered at ClinicalTrials.gov (NCT04279314).
PubMed: 38917793
DOI: 10.1016/j.medj.2024.05.018 -
European Neuropsychopharmacology : the... Jun 2024Many individuals with autism spectrum disorder (ASD) experience various degrees of impairment in social interaction and communication, restricted, repetitive behaviours,... (Review)
Review
Many individuals with autism spectrum disorder (ASD) experience various degrees of impairment in social interaction and communication, restricted, repetitive behaviours, interests/activities. These impairments make a significant contribution to poorer everyday adaptive functioning. Yet, there are no pharmacological therapies to effectively treat the core symptoms of ASD. Since symptoms of ASD likely emerge from a complex interplay of vulnerabilities, environmental factors and compensatory mechanisms during the early developmental period, pharmacological interventions arguably would have the greatest impact to improve long-term outcomes when implemented at a young age. It is essential therefore, that clinical development programmes of investigational drugs in ASD include the paediatric population early on in clinical trials. Such trials need to offer the prospect of direct benefit (PDB) for participants. In most cases in drug development this prospect is supported by evidence of efficacy in adults. However, the effectiveness of treatment approaches may be age-dependent, so that clinical trials in adults may not provide sufficient evidence for a PDB in children. In this white paper, we consolidate recommendations from regulatory guidelines, as well as advice from the Food and Drug Administration, USA (FDA) and the Committee for Human Medicinal Products (CHMP) consultations on various development programmes on: 1) elements to support a PDB to participants in early paediatric clinical trials in ASD, including single-gene neurodevelopment disorders, 2) aspects of study design to allow for a PDB. This white paper is intended to be complementary to existing regulatory guidelines in guiding industry and academic sponsors in their conduct of early paediatric clinical trials in ASD.
PubMed: 38917772
DOI: 10.1016/j.euroneuro.2024.05.011