keyword
https://read.qxmd.com/read/38504418/cerebellar-phenotypes-in-germline-pten-mutation-carriers
#21
REVIEW
Donatella Gambini, Stefano Ferrero, Gaetano Bulfamante, Luigi Pisani, Massimo Corbo, Elisabetta Kuhn
PTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer. Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the cerebellum or Lhermitte-Duclos disease). Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children...
April 2024: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38498091/the-application-of-extended-reality-in-treating-children-with-autism-spectrum-disorder
#22
REVIEW
Weijia Zhao, Song Xu, Yanan Zhang, Dandan Li, Chunyan Zhu, Kai Wang
Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder in children, characterized by social interaction, communication difficulties, and repetitive and stereotyped behaviors. Existing intervention methods have limitations, such as requiring long treatment periods and needing to be more convenient to implement. Extended Reality (XR) technology offers a virtual environment to enhance children's social, communication, and self-regulation skills. This paper compares XR theoretical models, application examples, and intervention effects...
March 18, 2024: Neuroscience Bulletin
https://read.qxmd.com/read/38492741/-neurodevelopment-and-neuroprotection-in-young-children
#23
JOURNAL ARTICLE
Stéphane Marret, Alexandra Chadie, Jean-Baptiste Muller, Clément Chollat
In France, the most pessimistic estimates put the prevalence of neurodevelopmental disorders (NDD) at 15% of births. The two largest populations of newborns at highest risk of NDD are premature babies and babies born into siblings with one or more infants who already have an autism spectrum disorder or another NDD. The high prevalence of these disorders justifies a health promotion policy, centred on the child and his or her family. Prevention is based on the early identification of high-risk factors, by informing families and training pregnancy and early childhood professionals, and implementing perinatal prevention protocols for high-risk newborns (antenatal corticosteroid therapy and magnesium sulfate for women at risk of preterm delivery before 32 weeks, developmental care, therapeutic hypothermia for full-term infants with early neonatal encephalopathy presumed to be anoxic)...
March 14, 2024: Gynecologie, Obstetrique, Fertilite & Senologie
https://read.qxmd.com/read/38491761/participation-patterns-and-associated-factors-in-japanese-children-with-autism
#24
JOURNAL ARTICLE
Yuto Iwanaga, Goro Tanaka, Michio Maruta, Hiroyasu Shiozu, Mizuho Kawanaka, Ryoichiro Iwanaga
BACKGROUND: Children's participation is an important outcome for children, families, and rehabilitation. OBJECTIVES: We compared participation patterns (home and community) of 6- to 12-year-old Japanese children with autism and children with typical development (TD) and explored the associations of participation with familial, environmental, and child-related factors. METHOD: Twenty-five mothers of children with autism and 21 mothers of TD children completed a survey covering their child's participation and environment, family empowerment, autism symptoms, sensory processing, behavior, and demographic characteristics...
March 15, 2024: OTJR: Occupation, Participation and Health
https://read.qxmd.com/read/38491498/the-role-of-animal-assisted-programs-in-physical-health-improvement-of-children-and-adolescents-with-special-education-needs-a-systematic-review
#25
JOURNAL ARTICLE
Karolina Eszter Kovács, Éva Zita Balogh, Buda Lovas, Péter Boris, Beáta Erika Nagy
Programs involving animals in therapeutic programs are becoming increasingly prevalent. These programs can vary greatly in their approach, scope, and objectives, and they can significantly impact the development of healthy children and those with various disorders. In this systematic review, we sought to investigate the psychological ramifications of animal-assisted activities (AAA), therapies (AAT), and interventions (AAI). We searched for relevant studies using the EBSCO Discovery Service search engine across 85 databases, utilising appropriate keywords...
March 15, 2024: BMC Public Health
https://read.qxmd.com/read/38475039/assisted-robots-in-therapies-for-children-with-autism-in-early-childhood
#26
REVIEW
Ana Gómez-Espinosa, José Carlos Moreno, Sagrario Pérez-de la Cruz
Children with autism spectrum disorder (ASD) have deficits that affect their social relationships, communication, and flexibility in reasoning. There are different types of treatment (pharmacological, educational, psychological, and rehabilitative). Currently, one way to address this problem is by using robotic systems to address the abilities that are altered in these children. The aim of this review will be to analyse the effectiveness of the incorporation of the different robotic systems currently existing in the treatment of children up to 10 years of age diagnosed with autism...
February 26, 2024: Sensors
https://read.qxmd.com/read/38464462/autism-spectrum-disorder-detection-with-knn-imputer-and-machine-learning-classifiers-via-questionnaire-mode-of-screening
#27
JOURNAL ARTICLE
Trapti Shrivastava, Vrijendra Singh, Anupam Agrawal
Autism spectrum disorder (ASD) is a neurodevelopmental disorder. ASD cannot be fully cured, but early-stage diagnosis followed by therapies and rehabilitation helps an autistic person to live a quality life. Clinical diagnosis of ASD symptoms via questionnaire and screening tests such as Autism Spectrum Quotient-10 (AQ-10) and Quantitative Check-list for Autism in Toddlers (Q-chat) are expensive, inaccessible, and time-consuming processes. Machine learning (ML) techniques are beneficial to predict ASD easily at the initial stage of diagnosis...
December 2024: Health Information Science and Systems
https://read.qxmd.com/read/38461840/clinical-effectiveness-of-the-psychological-therapy-mental-health-intervention-for-children-with-epilepsy-in-addition-to-usual-care-compared-with-assessment-enhanced-usual-care-alone-a-multicentre-randomised-controlled-clinical-trial-in-the-uk
#28
JOURNAL ARTICLE
Sophie D Bennett, J Helen Cross, Kashfia Chowdhury, Tamsin Ford, Isobel Heyman, Anna E Coughtrey, Emma Dalrymple, Sarah Byford, Bruce Chorpita, Peter Fonagy, Rona Moss-Morris, Colin Reilly, Jonathan A Smith, Terence Stephenson, Sophia Varadkar, James Blackstone, Harriet Quartly, Tyler Hughes, Amy Lewins, Elana Moore, Fahreen Walji, Alice Welch, Emily Whelan, Alice Zacharia, Anaïs D'Oelsnitz, Mariam Shah, Laila Xu, Aikaterini Vezyroglou, Kirsten Mitchell, Isabella E Nizza, Poushali Ganguli, Roz Shafran
BACKGROUND: Mental health difficulties are common in children and young people with chronic health conditions, but many of those in need do not access evidence-based psychological treatments. The study aim was to evaluate the clinical effectiveness of integrated mental health treatment for children and young people with epilepsy, a common chronic health condition known to be associated with a particularly high rate of co-occurring mental health difficulties. METHODS: We conducted a parallel group, multicentre, open-label, randomised controlled trial of participants aged 3-18 years, attending epilepsy clinics across England and Northern Ireland who met diagnostic criteria for a common mental health disorder...
March 7, 2024: Lancet
https://read.qxmd.com/read/38457325/self-guided-dmt-exploring-a-novel-paradigm-of-dance-movement-therapy-in-mixed-reality-for-children-with-asd
#29
JOURNAL ARTICLE
Weiying Liu, Yanyan Zhang, Baiqiao Zhang, Qianqian Xiong, Hong Zhao, Sheng Li, Juan Liu, Yulong Bian
Children diagnosed with Autism Spectrum Disorder (ASD) often exhibit motor disorders. Dance Movement Therapy (DMT) has shown great potential for improving the motor control ability of children with ASD. However, traditional DMT methods often lack vividness and are difficult to implement effectively. To address this issue, we propose a Mixed Reality DMT approach, utilizing interactive virtual agents. This approach offers immersive training content and multi-sensory feedback. To improve the training performance of children with ASD, we introduce a novel training paradigm featuring a self-guided mode...
March 8, 2024: IEEE Transactions on Visualization and Computer Graphics
https://read.qxmd.com/read/38445086/effects-of-covid-19-on-autism-spectrum-disorder-in-qatar
#30
JOURNAL ARTICLE
Fouad A Alshaban, Iman Ghazal, Sanaa T Al-Harahsheh, Mustafa Lotfy, Hawraa Al-Shammari, Fatema Al-Faraj, I Richard Thompson, Allison B Ratto, Assal Nasir, Mohamed Tolefat
INTRODUCTION: The unprecedented impact of the coronavirus pandemic (COVID-19) has had profound implications on the ASD community, including disrupting daily life, increasing stress and emotional dysregulation in autistic children, and worsening individual and family well-being. METHODS: This study used quantitative and qualitative survey data from parents in Qatar (n=271), to understand the impact of the COVID-19 pandemic on autistic children and their families in Qatar...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38442500/the-impact-of-the-physical-activity-intervention-on-sleep-in-children-and-adolescents-with-autism-spectrum-disorder-a-systematic-review-and-meta-analysis
#31
REVIEW
Xiao Liang, Justin A Haegele, Andy Choi-Yeung Tse, Minghui Li, Hui Zhang, Shi Zhao, Shirley Xin Li
Pharmacological treatments (i.e., melatonin) and non-pharmacological therapies (e.g., parent-based sleep education programs and behavioural interventions) have been found to result in improved sleep in children and adolescents with autism spectrum disorder (ASD). However, there are several limitations to these treatment approaches, including concerns about the possible side-effects and safety, high-cost and uncertainties of long-term effects. Physical activity (PA) intervention is a promising behavioural intervention that has received increasing attention...
February 23, 2024: Sleep Medicine Reviews
https://read.qxmd.com/read/38435203/examining-the-impact-of-group-based-social-skills-intervention-in-autistic-children-aged-eight-to-15-years
#32
JOURNAL ARTICLE
Mona P Gajre, Mansi Shah, Shreeya V Pradhan, Harshna Aseri
Introduction Autism spectrum disorder (ASD) is a neurological and developmental disorder, which poses challenges to social communication and behavior, particularly affecting social functioning. Individuals with ASD face significant social challenges, including difficulty understanding social cues and body language, limited ability to engage in reciprocal social interactions, and challenges with establishing empathy. A preference for routines and repetitive behaviors limits their ability to adapt to new or unexpected social situations...
February 2024: Curēus
https://read.qxmd.com/read/38426491/challenges-in-developing-therapies-in-fragile-x-syndrome-how-the-fxlearn-trial-can-guide-research
#33
JOURNAL ARTICLE
Jeffrey L Neul
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the single-gene cause of autism, is caused by decreased expression of the fragile X messenger ribonucleoprotein protein (FMRP), a ribosomal-associated RNA-binding protein involved in translational repression. Extensive preclinical work in several FXS animal models supported the therapeutic potential of decreasing metabotropic glutamate receptor (mGluR) signaling to correct translation of proteins related to synaptic plasticity; however, multiple clinical trials failed to show conclusive evidence of efficacy...
March 1, 2024: Journal of Clinical Investigation
https://read.qxmd.com/read/38425302/autistic-sociality-challenging-representations-of-autism-and-human-animal-interactions
#34
JOURNAL ARTICLE
Pia Vollmers, Barbara E Gibson, Yani Hamdani
PURPOSE: The objective of this synthesis research was to explore representations of autism and human-animal interactions (HAI) in the health sciences literature and the implications for autistic children and their families. METHODS: Guided by critical interpretive synthesis methods proposed by Dixon-Woods et al. (2006), we synthesized and examined how autism and HAI were described in the health sciences literature and explored assumptions and goals underlying HAI as an intervention...
March 1, 2024: Disability and Rehabilitation
https://read.qxmd.com/read/38423712/health-care-for-autistic-children-a-public-health-perspective
#35
REVIEW
Jennifer L Ames, Meghan N Davignon, Elizabeth A Hayes, Lisa A Croen
Autism has been the subject of large-scale public health investment. These investments are increasingly shifting toward mitigating the lifelong disability and impairment associated with autism. Key efforts include bolstering screening schedules, accelerating the path to diagnosis and early entry into evidence-based therapies, and providing preventive management of common co-occurring conditions. Enhancing their implementation will necessitate addressing neurodiversity and health equity. Pediatric primary care teams continue to be important stewards in population-level initiatives to promote autistic health...
April 2024: Pediatric Clinics of North America
https://read.qxmd.com/read/38421437/the-polymorphisms-of-candidate-pharmacokinetic-and-pharmacodynamic-genes-and-their-pharmacogenetic-impacts-on-the-effectiveness-of-risperidone-maintenance-therapy-among-saudi-children-with-autism
#36
JOURNAL ARTICLE
Sireen Abdul Rahim Shilbayeh, Iman Sharaf Adeen, Ayman Shawqi Alhazmi, Haya Aljurayb, Rana Saad Altokhais, Nourah Alhowaish, Khawlah Essa Aldilaijan, Mostafa Kamal, Anwar Mansour Alnakhli
BACKGROUND: Antipsychotics, including risperidone (RIS), are frequently indicated for various autism spectrum disorder (ASD) manifestations; however, "actionable" PGx testing in psychiatry regarding antipsychotic dosing and selection has limited applications in routine clinical practice because of the lack of standard guidelines, mostly due to the inconsistency and scarcity of genetic variant data. The current study is aimed at examining the association of RIS effectiveness, according to ABC-CV and CGI indexes, with relevant pharmacokinetics (PK) and pharmacodynamics (PD) genes...
February 29, 2024: European Journal of Clinical Pharmacology
https://read.qxmd.com/read/38419902/economic-impacts-of-the-covid-19-pandemic-on-families-of-children-with-autism-and-other-developmental-disabilities
#37
JOURNAL ARTICLE
Olivia M Pokoski, Hayley Crain, Carolyn DiGuiseppi, Sarah M Furnier, Eric J Moody, Cy Nadler, Karen Pazol, Jessica Sanders, Lisa D Wiggins, Maureen S Durkin
BACKGROUND: To control the spread of the coronavirus disease (COVID-19), many jurisdictions throughout the world enacted public health measures that had vast socio-economic implications. In emergency situations, families of children with developmental disabilities (DDs), including autism, may experience increased difficulty accessing therapies, economic hardship, and caregiver stress, with the potential to exacerbate autism symptoms. Yet, limited research exists on the economic impacts of the COVID-19 pandemic on families of children with autism or another DD compared to families of children from the general population...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38412857/impaired-cerebellar-plasticity-hypersensitizes-sensory-reflexes-in-scn2a-associated-asd
#38
JOURNAL ARTICLE
Chenyu Wang, Kimberly D Derderian, Elizabeth Hamada, Xujia Zhou, Andrew D Nelson, Henry Kyoung, Nadav Ahituv, Guy Bouvier, Kevin J Bender
Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly to the negative aspects of the disorder. Here, we identify a mechanism that underlies hypersensitivity in a sensorimotor reflex found to be altered in humans and in mice with loss of function in the ASD risk-factor gene SCN2A. The cerebellum-dependent vestibulo-ocular reflex (VOR), which helps maintain one's gaze during movement, was hypersensitized due to deficits in cerebellar synaptic plasticity...
February 21, 2024: Neuron
https://read.qxmd.com/read/38407116/social-communication-and-parent-verbal-responsiveness-across-interaction-contexts-in-toddlers-on-the-autism-spectrum
#39
JOURNAL ARTICLE
Abigail Delehanty, Ciera M Lorio, Mollie Romano, Jennifer A Brown, Juliann J Woods, Amy M Wetherby
PURPOSE: Interactions with caregivers during the ordinary activities that occur as families go about their everyday lives are critical to supporting children's acquisition of social communication and language skills. The purpose of this study was to examine child communication and parent verbal responsiveness across interaction contexts in 211 children ( M age = 20 months) on the autism spectrum ( n = 121), with developmental delay ( n = 46), or with typical development ( n = 44). METHOD: Families participated in up to eight activities during an hour-long, video-recorded home observation...
February 26, 2024: American Journal of Speech-language Pathology
https://read.qxmd.com/read/38405293/resolving-barriers-to-continence-for-children-with-disabilities-steps-toward-evidence-based-practice
#40
REVIEW
Maeve G Donnelly, Amanda M Karsten
Behavior-analytic toilet training (BATT) methods to support urine continence have been reviewed and replicated in numerous studies. Despite empirical validations of BATT, children with disabilities may not experience successful toilet training nor access the associated health and social benefits of urinary continence. It is possible these outcomes are partially due to practical barriers that arise throughout urine training. In practice, barriers may interfere with toilet training to the extent that training is postponed or discontinued, resulting in long-term incontinence and other related problems...
March 2024: Behavior Analysis in Practice
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