keyword
https://read.qxmd.com/read/38652351/purinergic-signalling-mediates-aberrant-excitability-of-developing-neuronal-circuits-in-the-fmr1-knockout-mouse-model
#1
JOURNAL ARTICLE
Kathryn E Reynolds, Eileen Huang, Monica Sabbineni, Eliza Wiseman, Nadeem Murtaza, Desmond Ahuja, Matt Napier, Kathryn M Murphy, Karun K Singh, Angela L Scott
Neuronal hyperexcitability within developing cortical circuits is a common characteristic of several heritable neurodevelopmental disorders, including Fragile X Syndrome (FXS), intellectual disability and autism spectrum disorders (ASD). While this aberrant circuitry is typically studied from a neuron-centric perspective, glial cells secrete soluble factors that regulate both neurite extension and synaptogenesis during development. The nucleotide-mediated purinergic signalling system is particularly instrumental in facilitating these effects...
April 23, 2024: Molecular Neurobiology
https://read.qxmd.com/read/38642180/community-priorities-for-outcomes-targeted-during-professional-supports-for-autistic-children-and-their-families
#2
JOURNAL ARTICLE
Rhylee Sulek, Chris Edwards, Ruth Monk, Lee Patrick, Sarah Pillar, Hannah Waddington
PURPOSE: Professional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals. This study investigated stakeholder views on the priority and appropriateness of outcomes intentionally targeted during the provision of supports to autistic children. METHOD: A survey of 181 participants (including 72 autistic adults, 85 parents, and 69 professionals) from Australia and New Zealand was conducted...
April 20, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38635131/where-does-hope-lie-the-dialectical-tensions-between-hopes-and-expectations-of-vocational-transition-planning-from-the-perspectives-of-autistic-young-adults-parents-and-practitioners
#3
JOURNAL ARTICLE
Jina Chun, Sarah L Curtiss, Constance Richard, Kaiqi Zhou, Yazmin Castruita Rios, Sara Park, Jaeyong Kim, Muharrem Koc
The post-secondary transition for autistic youth is a complex process, with hopes and expectations serving as malleable mediators often overlooked in research and practice. Career awareness, exploration, and counseling services play a critical role in facilitating vocational transition, but the vocational hopes and expectations of autistic youth and their parents are often disregarded. This study aims to explore these aspirations and their impact on the vocational transition process, seeking to harmonize elements to better align with the needs of autistic youth and their families...
April 18, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38633780/identification-of-moderate-effect-size-genes-in-autism-spectrum-disorder-through-a-novel-gene-pairing-approach
#4
Madison Caballero, F Kyle Satterstrom, Joseph D Buxbaum, Behrang Mahjani
Autism Spectrum Disorder (ASD) arises from complex genetic and environmental factors, with inherited genetic variation playing a substantial role. This study introduces a novel approach to uncover moderate effect size (MES) genes in ASD, which individually do not meet the ASD liability threshold but collectively contribute when paired with specific other MES genes. Analyzing 10,795 families from the SPARK dataset, we identified 97 MES genes forming 50 significant gene pairs, demonstrating a substantial association with ASD when considered in tandem, but not individually...
April 4, 2024: medRxiv
https://read.qxmd.com/read/38632257/amygdalar-neurotransmission-alterations-in-the-btbr-mice-model-of-idiopathic-autism
#5
JOURNAL ARTICLE
Maria Bove, Maria Adelaide Palmieri, Martina Santoro, Lisa Pia Agosti, Silvana Gaetani, Adele Romano, Stefania Dimonte, Giuseppe Costantino, Vladyslav Sikora, Paolo Tucci, Stefania Schiavone, Maria Grazia Morgese, Luigia Trabace
Autism Spectrum Disorders (ASD) are principally diagnosed by three core behavioural symptoms, such as stereotyped repertoire, communication impairments and social dysfunctions. This complex pathology has been linked to abnormalities of corticostriatal and limbic circuits. Despite experimental efforts in elucidating the molecular mechanisms behind these abnormalities, a clear etiopathogenic hypothesis is still lacking. To this aim, preclinical studies can be really helpful to longitudinally study behavioural alterations resembling human symptoms and to investigate the underlying neurobiological correlates...
April 17, 2024: Translational Psychiatry
https://read.qxmd.com/read/38631391/profile-of-paediatric-occupational-therapy-practice-in-eastern-mediterranean-countries
#6
JOURNAL ARTICLE
Zainab A Jasem
BACKGROUND: Paediatric occupational therapy (OT) is considered the largest practice area in OT in several regions, including the Eastern Mediterranean (EM) countries. AIMS/OBJECTIVES: This study aimed to establish a profile of paediatric occupational therapists in EM countries to identify theoretical models, assessments and interventions employed. It also investigated the therapists' usage of evidence-based practice in their practice. MATERIAL AND METHODS: We conducted a cross-sectional survey using a questionnaire which was distributed electronically to occupational therapists working with children...
April 17, 2024: Scandinavian Journal of Occupational Therapy
https://read.qxmd.com/read/38629051/the-gut-microbiome-and-sociability
#7
REVIEW
Katherine T Weber, Bernard J Varian, Susan E Erdman
The human gut microbiome plays an important role in the maturation of the neural, immune, and endocrine systems. Research data from animal models shows that gut microbiota communicate with the host's brain in an elaborate network of signaling pathways, including the vagus nerve. Part of the microbiome's influence extends to the behavioral and social development of its host. As a social species, a human's ability to communicate with others is imperative to their survival and quality of life. Current research explores the gut microbiota's developmental influence as well as how these gut-brain pathways can be leveraged to alleviate the social symptoms associated with various neurodevelopmental and psychiatric diseases...
2024: Frontiers in Neuroscience
https://read.qxmd.com/read/38628398/plexin-b3-guides-axons-to-cross-the-midline-in-vivo
#8
JOURNAL ARTICLE
Zhi-Zhi Liu, Ling-Yan Liu, Lou-Yin Zhu, Jian Zhu, Jia-Yu Luo, Ye-Fan Wang, Hong A Xu
During the development of neural circuits, axons are guided by a variety of molecular cues to navigate through the brain and establish precise connections with correct partners at the right time and place. Many axon guidance cues have been identified and they play pleiotropic roles in not only axon guidance but also axon fasciculation, axon pruning, and synaptogenesis as well as cell migration, angiogenesis, and bone formation. In search of receptors for Sema3E in axon guidance, we unexpectedly found that Plexin B3 is highly expressed in retinal ganglion cells of zebrafish embryos when retinal axons are crossing the midline to form the chiasm...
2024: Frontiers in Cellular Neuroscience
https://read.qxmd.com/read/38622794/-a-perfect-storm-autistic-experiences-of-menopause-and-midlife
#9
JOURNAL ARTICLE
Miranda J Brady, Christine A Jenkins, Julie M Gamble-Turner, Rachel L Moseley, Margaret Janse van Rensburg, Rose J Matthews
Previous studies report that menopause can be a very difficult transition for some autistic people. This study focuses on how autistic people experience menopause and what support and information might help them. Autistic Community Research Associates played an important role in the research and co-authored this article. We held four focus groups and eight interviews online with 24 autistic participants who lived in either Canada ( n  = 13) or the United Kingdom ( n  = 11). We analysed participant conversations using a method called reflexive thematic analysis...
April 15, 2024: Autism: the International Journal of Research and Practice
https://read.qxmd.com/read/38619154/complex-adhd-challenging-case-when-simple-becomes-complex-managing-clinician-bias-and-navigating-challenging-family-dynamics-in-a-6-year-old-girl-with-adhd-and-developmental-delays
#10
JOURNAL ARTICLE
Jennifer Cervantes, Jenna Wallace, Annie Kennelly Helms, Elizabeth A Diekroger, Jason Fogler
Layla is a 6.7-year-old girl diagnosed with attention-deficit/hyperactivity disorder (ADHD)-predominantly hyperactive/impulsive type-delayed adaptive skills, enuresis, unspecified malnutrition, and feeding difficulties. She presented to developmental-behavioral pediatrics (DBP) in January 2022 due to caregiver concerns for autism spectrum disorder (ASD).Layla lives in a polyamorous family with her biological mother and father, mother's partner whom Layla refers to as her uncle, and her 2 half-siblings. There is a maternal history of special education services, schizoaffective disorder, bipolar disorder, multiple sclerosis, Wolff-Parkinson-White syndrome, and ADHD...
March 2024: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/38618633/the-interdisciplinary-diagnostics-of-autism-spectrum-disorder-using-dc-0-5-tm-a-case-report
#11
Galina V Skoblo, Svetlana V Trushkina
BACKGROUND: The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5TM ) is widely used in many Western countries. For Russian specialists, such classification represents a relatively new tool for the comprehensive diagnosis of mental disorders in children from birth to the five-year-old threshold. The purpose for presenting this case study report is to showcase the practical application of the DC:0-5TM . AIM: This study aims to illustrate the diagnostic process according to the DC:0-5TM criteria using the example of a specific clinical case report involving the collaborative efforts of two specialists: a child psychiatrist and a clinical child psychologist...
December 22, 2023: Consort Psychiatr
https://read.qxmd.com/read/38615846/early-identification-of-autism-spectrum-disorder-based-on-machine-learning-with-eye-tracking-data
#12
JOURNAL ARTICLE
Qiuhong Wei, Wenxin Dong, Dongchuan Yu, Ke Wang, Ting Yang, Yuanjie Xiao, Dan Long, Haiyi Xiong, Jie Chen, Ximing Xu, Tingyu Li
BACKGROUND: Early identification of autism spectrum disorder (ASD) improves long-term outcomes, yet significant diagnostic delays persist. METHODS: A retrospective cohort of 449 children (ASD: 246, typically developing [TD]: 203) was used for model development. Eye-movement data were collected from the participants watching videos that featured eye-tracking paradigms for assessing social and non-social cognition. Five machine learning algorithms, namely random forest, support vector machine, logistic regression, artificial neural network, and extreme gradient boosting, were trained to classify children with ASD and TD...
April 12, 2024: Journal of Affective Disorders
https://read.qxmd.com/read/38615095/functional-myelin-in-cognition-and-neurodevelopmental-disorders
#13
REVIEW
Hasni Khelfaoui, Cristobal Ibaceta-Gonzalez, Maria Cecilia Angulo
In vertebrates, oligodendrocytes (OLs) are glial cells of the central nervous system (CNS) responsible for the formation of the myelin sheath that surrounds the axons of neurons. The myelin sheath plays a crucial role in the transmission of neuronal information by promoting the rapid saltatory conduction of action potentials and providing neurons with structural and metabolic support. Saltatory conduction, first described in the peripheral nervous system (PNS), is now generally recognized as a universal evolutionary innovation to respond quickly to the environment: myelin helps us think and act fast...
April 13, 2024: Cellular and Molecular Life Sciences: CMLS
https://read.qxmd.com/read/38613168/immunological-and-hematological-findings-as-major-features-in-a-patient-with-a-new-germline-pathogenic-cbl-variant
#14
Emilia Stellacci, Jennefer N Carter, Luca Pannone, David Stevenson, Dorsa Moslehi, Serenella Venanzi, Jonathan A Bernstein, Marco Tartaglia, Simone Martinelli
Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having clinical overlap with Noonan syndrome (NS) and predisposing to juvenile myelomonocytic leukemia and vasculitis. Other features of the disorder include cardiac defects, postnatal growth delay, cryptorchidism, facial dysmorphisms, and predisposition to develop autoimmune disorders...
April 12, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38609575/effects-of-a-teacher-facilitated-peer-mediated-intervention-on-social-play-of-preschoolers-with-autism
#15
JOURNAL ARTICLE
Megan P Fedewa, Laci Watkins, Kameron Carden, Glenda Grbac
Children with autism often display differences in functional and symbolic play and may experience barriers to social inclusion with peers in preschool settings. Therefore, interventions supporting social play between children with autism and their peers that can be feasibly implemented by teachers in inclusive settings are needed. A teacher-implemented peer-mediated Stay Play Talk (SPT; Goldstein et al. in Top Lang Disord 27(2):182-199, 2007) intervention package targeting the type of play children with autism engage in with peers was implemented using a concurrent multiple baseline design across four participant/peer dyads...
April 12, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38607731/role-of-serotonylation-and-sert-posttranslational-modifications-in-alzheimer-s-disease-pathogenesis
#16
REVIEW
Arubala P Reddy, Priyanka Rawat, Nicholas Rohr, Razelle Alvir, Jasbir Bisht, Mst Anika Bushra, Jennifer Luong, Aananya P Reddy
The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) is implicated mainly in Alzheimer's disease (AD) and reported to be responsible for several processes and roles in the human body, such as regulating sleep, food intake, sexual behavior, anxiety, and drug abuse. It is synthesized from the amino acid tryptophan. Serotonin also functions as a signal between neurons to mature, survive, and differentiate. It plays a crucial role in neuronal plasticity, including cell migration and cell contact formation...
April 4, 2024: Aging and Disease
https://read.qxmd.com/read/38602860/relationship-between-directly-observed-sensory-reactivity-differences-and-classroom-behaviors-of-autistic-children
#17
JOURNAL ARTICLE
Hannah Marcham, Teresa Tavassoli
IMPORTANCE: Differences in sensory reactivity are a core feature of autism; however, more remains to be learned about their role in classroom learning. OBJECTIVE: To use direct observational measures to investigate whether there is a link between sensory reactivity differences and classroom behaviors of autistic children. DESIGN: Correlational study. SETTING: Two special educational needs schools. PARTICIPANTS: Children with a clinical diagnosis of autism, ages 5 to 18 yr (N = 53)...
May 1, 2024: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://read.qxmd.com/read/38599356/neural-cell-types-and-circuits-linking-thermoregulation-and-social-behavior
#18
REVIEW
Joseph F Rogers, Morgane Vandendoren, Jonathan F Prather, Jason G Landen, Nicole L Bedford, Adam C Nelson
Understanding how social and affective behavioral states are controlled by neural circuits is a fundamental challenge in neurobiology. Despite increasing understanding of central circuits governing prosocial and agonistic interactions, how bodily autonomic processes regulate these behaviors is less resolved. Thermoregulation is vital for maintaining homeostasis, but also associated with cognitive, physical, affective, and behavioral states. Here, we posit that adjusting body temperature may be integral to the appropriate expression of social behavior and argue that understanding neural links between behavior and thermoregulation is timely...
April 9, 2024: Neuroscience and Biobehavioral Reviews
https://read.qxmd.com/read/38596639/the-relationship-between-executive-function-and-the-association-of-motor-coordination-difficulties-and-social-communication-deficits-in-autistic-children
#19
JOURNAL ARTICLE
Tingfeng Gu, Chengkai Jin, Lizi Lin, Xin Wang, Xiuhong Li, Jin Jing, Muqing Cao
BACKGROUND: Motor coordination difficulties could contribute to social communication deficits in autistic children. However, the exploration of the mechanism implicated in these claims has been limited by the lack of potential confounders such as executive function (EF). METHODS: We investigated the role that EF plays in the relationship between motor coordination and social communication in a school-aged autistic population via a structural model in a statistically robust manner...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38594888/social-functioning-predicts-individual-changes-in-eeg-microstates-following-intranasal-oxytocin-administration-a%C3%A2-double-blind-cross-over-randomized-clinical-trial
#20
JOURNAL ARTICLE
Miralena I Tomescu, Stephanie Van der Donck, Emanuela M Perisanu, Alexandru I Berceanu, Kaat Alaerts, Bart Boets, Ioana Carcea
Oxytocin (OXT) modulates social behaviors. However, the administration of exogenous OXT in humans produces inconsistent behavioral changes, affecting future consideration of OXT as a treatment for autism and other disorders with social symptoms. Inter-individual variability in social functioning traits might play a key role in how OXT changes brain activity and, therefore, behavior. Here, we investigated if inter-individual variability might dictate how single-dose intranasal OXT administration (IN-OXT) changes spontaneous neural activity during the eyes-open resting state...
April 9, 2024: Psychophysiology
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