keyword
https://read.qxmd.com/read/38537027/home-vs-gym-based-exercise-delivery-modes-of-two-multicomponent-intensity-training-regimes-on-cardiorespiratory-fitness-and-arterial-stiffness-in-adults-with-intellectual-and-developmental-disability-during-the-covid-19-pandemic-a-randomized-controlled-trial
#1
JOURNAL ARTICLE
Xavier Melo, Bruno Simão, Catarina Catela, Isabel Oliveira, Sara Planche, Ana Louseiro, João Luís Marôco, Guillermo R Oviedo, Bo Fernhall, Helena Santa-Clara
Background: We compared the effects of home- vs gym-based delivery modes of two 8-week supervised multicomponent intensity training regimes on cardiorespiratory fitness and arterial stiffness in 17 adults with intellectual and developmental disability during the COVID-19 pandemic. Methods : Participants were assigned to sprint interval training or continuous aerobic training, both incorporating resistance training. The intervention started with 8-weeks of online training (M1-M2), 1-month of detraining, plus 8-weeks of gym-based training (M3-M4)...
March 27, 2024: Journal of Intellectual Disabilities: JOID
https://read.qxmd.com/read/38536866/diagnostic-findings-and-yield-of-investigations-for-children-with-developmental-regression
#2
JOURNAL ARTICLE
Kirsten Furley, Matthew F Hunter, Michael Fahey, Katrina Williams
Childhood conditions that feature developmental regression are poorly understood. Phenotype-genotype characterization and diagnostic yield data are needed to inform clinical decision-making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective chart review of children presenting with developmental regression to a tertiary pediatric genetic clinic between 2018 and 2021 was performed. Of 99 children, 30% (n = 30) had intellectual disability (ID), 21% (n = 21) were autistic, 39% (n = 39) were autistic with ID, and 9% (n = 9) did not have ID or autism...
March 27, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38536637/an-exploration-of-online-and-in-person-administration-of-the-kaufman-brief-intelligence-test-second-edition-kbit-2-in-children-and-adolescents-being-evaluated-for-autism-spectrum-disorder
#3
JOURNAL ARTICLE
Joshua Anbar, Maurice Metoyer, Christopher J Smith, Nicole L Matthews
PURPOSE:  Most assessment tools used to diagnose and characterize autism spectrum disorder (ASD) were developed for in-person administration. The coronavirus disease 2019 (COVID-19) pandemic resulted in the need to adapt traditional assessment tools for online administration with only minimal evidence to support validity of such practices. METHODS: The current exploratory study compared scores from online administration of the Kaufman Brief Intelligence Test, Second Edition (KBIT-2) during the pandemic to scores derived from follow-up testing using traditional in-person administration...
March 27, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38536086/frailty-as-a-comprehensive-health-measure-beyond-seizure-control-in-patients-with-epilepsy-a-cross-sectional-study
#4
JOURNAL ARTICLE
Emanuele Cerulli Irelli, Maria S Borioni, Alessandra Morano, Adolfo Mazzeo, Pierludovico Moro, Biagio Orlando, Enrico M Salamone, Luca Giordano, Alessio Petrungaro, Marco Toccaceli Blasi, Anna T Giallonardo, Marco Canevelli, Carlo Di Bonaventura
OBJECTIVE: Due to the high clinical heterogeneity of epilepsy, there is a critical need for novel metrics aimed at capturing its biological and phenotypic complexity. Frailty is increasingly recognized in various medical disciplines as a useful construct to understand differences in susceptibility to adverse outcomes. Here, we develop a frailty index (FI) for patients with epilepsy (PwE) and explore its association with demographic and clinical features. METHODS: In this cross-sectional study, we consecutively enrolled 153 PwE from an outpatient epilepsy clinic...
March 27, 2024: Epilepsia
https://read.qxmd.com/read/38535206/comparison-of-crispr-mad7-and-crispr-cas9-for-gene-disruptions-in-komagataella-phaffii
#5
JOURNAL ARTICLE
Kirill Smirnov, Florian Weiss, Anna-Maria Hatzl, Lukas Rieder, Kjeld Olesen, Sanne Jensen, Anton Glieder
CRISPR (clustered regularly interspaced short palindromic repeats)-based technologies are powerful, programmable tools for site-directed genome modifications. After successful adaptation and efficient use of CRISPR-Cas9 for genome engineering in methylotrophic yeast Komagataella phaffii , a broader variety of employable endonucleases was desired to increase the experimental flexibility and to provide alternatives in case there are specific legal restrictions in industrial research due to the intellectual property rights (IPRs) of third parties...
March 5, 2024: Journal of Fungi (Basel, Switzerland)
https://read.qxmd.com/read/38535163/adding-a-piece-to-the-puzzle-the-allocation-of-figurative-language-comprehension-into-the-chc-model-of-cognitive-abilities
#6
JOURNAL ARTICLE
Andra Biesok, Matthias Ziegler, Christiane Montag, Ivan Nenchev
The study aimed to investigate the allocation of figurative language comprehension (FLC) within the Cattell-Horn-Carroll (CHC) model of cognitive abilities, using three newly developed tests: the Reverse Paraphrase Test (RPT), the Literal Paraphrase Test (LPT), and the Proverb Test (PT). The analysis of a sample of 909 participants revealed that the RPT and LPT measured a unidimensional construct of FLC, while the PT was excluded due to insufficient fit. Combining RPT and LPT items, various models were evaluated, with a bifactor S-1 model showing the best fit, indicating the influence of a general factor (representing FLC) and test-specific method factors...
March 1, 2024: Journal of Intelligence
https://read.qxmd.com/read/38534897/dog-assisted-therapy-in-mental-health-care-a-qualitative-study-on-the-experiences-of-patients-with-intellectual-disabilities
#7
JOURNAL ARTICLE
Anke van Schooten, Nienke Peters-Scheffer, Marie-José Enders-Slegers, Inge Verhagen, Robert Didden
(1) Background: Dog-assisted therapy (DAT) is an experiential intervention to promote psychological, physical, and social functioning in children and adults. Only few studies have been conducted on DAT in adults with a mild intellectual disability or borderline intellectual functioning (MID-BIF). The purpose of this study was to explore the experiences of patients with MID-BIF undergoing DAT in a mental health care facility. (2) Method: Seven patients completed 13 to 15 sessions of DAT. Within two weeks of completing the program, they were interviewed using a semi-structured interview...
February 29, 2024: European journal of investigation in health, psychology and education
https://read.qxmd.com/read/38534779/autosomal-recessive-rod-cone-dystrophy-with-mild-extra-ocular-manifestations-due-to-a-splice-affecting-variant-in-bbs9
#8
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P M Cremers, Susanne Roosing, Tamar Ben-Yosef
Bardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inversion probes-based panel that targets the exons and splice sites of 113 genes associated with retinitis pigmentosa and Leber congenital amaurosis revealed a homozygous rare missense variant in the BBS9 gene (c...
March 18, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534384/analyses-of-conditional-knockout-mice-for-pogz-a-gene-responsible-for-neurodevelopmental-disorders-in-excitatory-and-inhibitory-neurons-in-the-brain
#9
JOURNAL ARTICLE
Nanako Hamada, Takuma Nishijo, Ikuko Iwamoto, Sagiv Shifman, Koh-Ichi Nagata
POGZ (Pogo transposable element derived with ZNF domain) is known to function as a regulator of gene expression. While variations in the POGZ gene have been associated with intellectual disabilities and developmental delays in humans, the exact pathophysiological mechanisms remain unclear. To shed light on this, we created two lines of conditional knockout mice for Pogz , one specific to excitatory neurons (Emx1-Pogz mice) and the other to inhibitory neurons (Gad2-Pogz mice) in the brain. Emx1-Pogz mice showed a decrease in body weight, similar to total Pogz knockout mice...
March 19, 2024: Cells
https://read.qxmd.com/read/38533692/systematic-review-of-studies-on-exposure-to-arsenic-in-drinking-water-and-cognitive-and-neurobehavioral-effects
#10
REVIEW
Paolo Boffetta, Luisa Sambati, Michele Sassano
An association between exposure to arsenic (As) and neurologic and behavioral effects has been reported in some studies, but no systematic review is available of the evidence linking As in drinking water and neurobehavioral effects after consideration of study quality and potential confounding, with focus on low-level circumstances of exposure. We conducted a systematic review and reported it in compliance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines, through a search of the databases PubMed, Web of Science, Scopus, and Embase...
March 27, 2024: Critical Reviews in Toxicology
https://read.qxmd.com/read/38533640/heterogeneous-association-of-tooth-loss-with-functional-limitations
#11
JOURNAL ARTICLE
Y Matsuyama, J Aida, K Kondo, K Shiba
Tooth loss is prevalent in older adults and associated with functional capacity decline. Studies on the susceptibility of some individuals to the effects of tooth loss are lacking. This study aimed to investigate the heterogeneity of the association between tooth loss and higher-level functional capacity in older Japanese individuals employing a machine learning approach. This is a prospective cohort study using the data of adults aged ≥65 y in Japan ( N = 16,553). Higher-level functional capacity, comprising instrumental independence, intellectual activity, and social role, was evaluated using the Tokyo Metropolitan Institute of Gerontology Index of Competence (TMIG-IC)...
April 2024: Journal of Dental Research
https://read.qxmd.com/read/38533410/epidemiology-and-outcomes-of-neurofibromatosis-type-1-nf-1-multicenter-tertiary-experience
#12
JOURNAL ARTICLE
Mohammed Almuqbil, Fatimah Yaseen Alshaikh, Waleed Altwaijri, Duaa Baarmah, Raid Harb Hommady, Maryam Yaseen Alshaikh, Fares Alammari, Meshal Alhussain, Reem Almotawa, Faris Alqarni, Amna Kashgari, Rayan Alkhodair, Jumanah N Alkhater, Lujeen Nasser Alkhater, Sawsan A Alharthi, Mada Abdulkarim Alsadi, Ahmed AlRumayyan
PURPOSE: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. PATIENTS AND METHODS: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia...
2024: Journal of Multidisciplinary Healthcare
https://read.qxmd.com/read/38533042/enhancing-creative-cognition-through-project-based-learning-an-in-depth-scholarly-exploration
#13
REVIEW
Hao Yu
This study rigorously examines Project-Based Learning's (PBL) efficacy in augmenting creative thinking within educational frameworks. It investigates PBL's alignment with psychological tenets and cognitive processes to bolster creative capacities. Employing an extensive literature review, the research scrutinizes PBL's psychological and educational merits, project design, student engagement, cognitive growth, and the amalgamation of intellectual and affective elements. Findings reveal PBL's adaptability to cognitive rhythms, its role in amplifying information intake and motivation, and its enhancement of cognitive engagement and dynamic thought application...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38531943/relationship-between-serum-cortisol-levels-stereotypies-and-the-presence-of-autism-spectrum-disorder-in-patients-with-severe-intellectual-disability
#14
JOURNAL ARTICLE
Takeru Ohtsubo, Yoshito Mizoguchi, Chie Aita, Yoshiomi Imamura, Momoko Kobayashi, Yutaka Kunitake, Hiroshi Tateishi, Takefumi Ueno, Akira Monji
Stereotypies are one of the diagnostic criteria for autism spectrum disorder (ASD) and are common to both ASD and intellectual disability (ID). Previous studies have been inconclusive, with some showing a positive correlation between stereotypies and cortisol, while others have shown a negative correlation. We hypothesised and investigated the presence of ASD as one of the variables involved in this discrepancy. We tested the following hypotheses on serum cortisol in a total of 84 hospitalised patients with severe ID and ASD with severe ID...
March 26, 2024: Scientific Reports
https://read.qxmd.com/read/38531639/community-testing-practices-for-autism-within-the-autism-and-developmental-disabilities-monitoring-network
#15
JOURNAL ARTICLE
Ashley Robinson Williams, Esther Amoakohene, Matthew J Maenner, Walter Zahorodny, Monica DiRienzo, Andrea Grzybowski, Jennifer Hall-Lande, Elise T Pas, Amanda V Bakian, Maya Lopez, Mary Patrick, Josephine Shenouda, Kelly A Shaw
BACKGROUND: No data exist at the population level on what tests are used to aid in the diagnosis of autism spectrum disorder in community practice. OBJECTIVES: To describe autism spectrum disorder testing practices to inform autism spectrum disorder identification efforts. METHODS: Data are from the Autism and Developmental Disabilities Monitoring Network, a multi-site surveillance system reporting prevalence estimates and characteristics of 8-year-old children with autism spectrum disorder...
March 26, 2024: Paediatric and Perinatal Epidemiology
https://read.qxmd.com/read/38531021/neurodevelopmental-and-functional-outcomes-following-in-utero-exposure-to-antiseizure-medication-a-systematic-review
#16
JOURNAL ARTICLE
Eliza Honybun, Emily Cockle, Charles B Malpas, Terence J O'Brien, Frank J Vajda, Piero Perucca, Genevieve Rayner
BACKGROUND AND OBJECTIVES: To undertake a systematic review of the available literature to examine the relationship between prenatal antiseizure medication (ASM) exposure and adverse postnatal neurodevelopmental outcomes, focusing on social, emotional, behavioral, and adaptive domains of human function, and the frequency of neurodevelopmental and psychiatric disorders in ASM-exposed offspring. METHODS: Electronic searches of MEDLINE, PsychINFO, and EMBASE were conducted and limited to studies published between 1990 and 2023 in English...
April 23, 2024: Neurology
https://read.qxmd.com/read/38531017/clinical-characteristics-developmental-trajectory-and-caregiver-burden-of-patients-with-creatine-transporter-deficiency-slc6a8
#17
JOURNAL ARTICLE
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, Nathalie Perreton, Marie Gavanon, Nathalie Touil, Amandine Brun-Laurisse, Fahra Gheurbi, Marion Buchy, Hulya Halep, David Cheillan, Catherine Mercier, Anaïs Brassier, Béatrice Desnous, Behrouz Kassai, Pascale De Lonlay, Vincent Des Portes
BACKGROUND AND OBJECTIVES: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials. METHODS: As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic SLC6A8 variant and (2) ID and/or autism spectrum disorder...
April 23, 2024: Neurology
https://read.qxmd.com/read/38530165/-all-i-know-is-that-a-disabled-person-is-someone-who-is-crippled-using-narratives-of-parents-to-unmask-the-misconceptions-of-mild-intellectual-disabilities-concept-as-a-learning-support-hindrance
#18
JOURNAL ARTICLE
Nancy Phyllis Makhosazane Mabaso
Background: Learning-support provision by parents is key to children's scholastic success. However, when children are diagnosed with mild intellectual disabilities and in need of additional support, learning support provision is hindered. Aim: The study sought to investigate parents' experiences when providing learning support to children diagnosed with Mild intellectual disabilities. Setting: Using a phenomenological design and an interpretive paradigm, anchored in a qualitative research approach, data were gathered from parents whose children were diagnosed with Mild intellectual disabilities across three inclusive schools from disadvantaged backgrounds in the Gauteng province, in South Africa...
March 26, 2024: Journal of Intellectual Disabilities: JOID
https://read.qxmd.com/read/38529864/-asthenic-disorders-correction-with-recognan
#19
JOURNAL ARTICLE
O A Shavlovskaya, I A Bokova
Asthenia, asthenic syndrome, asthenic condition, asthenic reaction, asthenic disorders are terms that describe the state of «impotence». Fatigue that occurs against the background of habitual physical or intellectual stress for a person, and persists after rest, is asthenia. For people of the older age group, the term senile asthenia syndrome is used. Asthenia manifests itself with increased fatigue and exhaustion, mood instability, increased irritability, sleep disorders. Asthenic conditions manifest themselves along with a decrease in physical activity, increased cognitive and mental fatigue...
2024: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/38529699/radiprodil-a-selective-glun2b-negative-allosteric-modulator-rescues-audiogenic-seizures-in-mice-carrying-the-glun2a-n615s-mutation
#20
JOURNAL ARTICLE
Ilaria Bertocchi, Lorenzo Cifarelli, Alessandra Oberto, Carola Eugenia Eva, Rolf Sprengel, Naheed Rohman Mirza, Pierandrea Muglia
BACKGROUND AND PURPOSE: GRIN-related disorders are neurodevelopmental disorders caused by mutations in N-methyl-D-aspartate receptor (NMDAR) subunit genes. A large fraction of these mutations lead to a 'gain of function' (GoF) of the NMDAR. Patients present with a range of symptoms including epilepsy, intellectual disability, behavioural and motor. Controlling seizures is a significant unmet medical need in most patients with GRIN-related disorders. Although several hundred GRIN mutations have been identified in humans, until recently none of the mouse models carrying Grin mutations/deletions showed an epileptic phenotype...
March 26, 2024: British Journal of Pharmacology
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