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/38536086/frailty-as-a-comprehensive-health-measure-beyond-seizure-control-in-patients-with-epilepsy-a-cross-sectional-study
#3
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/38534897/dog-assisted-therapy-in-mental-health-care-a-qualitative-study-on-the-experiences-of-patients-with-intellectual-disabilities
#4
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
#5
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
#6
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/38533410/epidemiology-and-outcomes-of-neurofibromatosis-type-1-nf-1-multicenter-tertiary-experience
#7
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/38531943/relationship-between-serum-cortisol-levels-stereotypies-and-the-presence-of-autism-spectrum-disorder-in-patients-with-severe-intellectual-disability
#8
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
#9
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
#10
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
#11
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
#12
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/38529699/radiprodil-a-selective-glun2b-negative-allosteric-modulator-rescues-audiogenic-seizures-in-mice-carrying-the-glun2a-n615s-mutation
#13
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
https://read.qxmd.com/read/38528912/case-report-novel-sin3a-loss-of-function-variant-as-causative-for-hypogonadotropic-hypogonadism-in-witteveen-kolk-syndrome
#14
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A Rey, María Gabriela Ropelato
Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witteveen-Kolk syndrome (WITKOS, OMIM #613406) associated with 15q24 microdeletions encompassing SIN3A . Whether hypogonadotropic hypogonadism is due to haploinsufficiency of SIN3A or any of the other eight genes present in 15q24 is not known. We report the case of a female patient with delayed puberty associated with intellectual disability, behavior problems, dysmorphic facial features, and short stature, at the age of 14 years...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38528911/a-case-report-of-pallister-killian-syndrome-with-an-unusual-mosaic-supernumerary-marker-chromosome-12-with-interstitial-12p13-1-p12-1-duplication
#15
JOURNAL ARTICLE
T V Karamysheva, I N Lebedev, L I Minaycheva, L P Nazarenko, A A Kashevarova, D A Fedotov, N A Skryabin, M E Lopatkina, A D Cheremnykh, E A Fonova, T V Nikitina, E A Sazhenova, M M Skleimova, N A Kolesnikov, G V Drozdov, Y S Yakovleva, G N Seitova, K E Orishchenko, N B Rubtsov
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38528903/medical-students-perceptions-on-preparedness-and-care-delivery-for-patients-with-autism-or-intellectual-disability
#16
JOURNAL ARTICLE
E Bitektine, M A Hintermayer, A Chen, A Ko, C Rodriguez
INTRODUCTION: To provide competent care to patients with autism spectrum disorder (ASD) or intellectual developmental disorder (IDD), healthcare professionals must recognize the needs of neurodivergent populations and adapt their clinical approach. We assessed the perceived preparedness of medical students to adapt care delivery for patients with ASD/IDD, as well as their perceptions on neurodiversity education. METHODS: We conducted a sequential explanatory mixed-methods study on undergraduate medical students at McGill University during the academic year 2020-2021...
February 2024: Canadian Medical Education Journal
https://read.qxmd.com/read/38528593/a-novel-large-intragenic-dpyd-deletion-causing-dihydropyrimidine-dehydrogenase-deficiency-a-case-report
#17
JOURNAL ARTICLE
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P Petrou
BACKGROUND: Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures. DPD is also important as the main enzyme in the catabolism of 5-fluorouracil (5-FU) which is extensively used as a chemotherapeutic agent...
March 25, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38528425/a-de-novo-frameshift-variant-in-med13-gene-in-a-patient-with-autism-spectrum-disorder-and-magnetic-resonance-imaging-abnormalities-mimicking-tuberous-sclerosis
#18
Gloria Pantalone, Maria Margherita Mancardi, Andrea Rossi, Roberta Romanelli, Elena Marasco, Marini Carla
The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES - trio analysis) uncovered a unique, de novo, frameshift variant in the MED13 gene (c...
March 25, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38525433/children-with-intellectual-and-developmental-disabilities-in-the-philippines-challenges-and-interventions
#19
JOURNAL ARTICLE
Dalmacito A Cordero
No abstract text is available yet for this article.
2024: Global Pediatric Health
https://read.qxmd.com/read/38525108/a-novel-in-frame-deletion-in-kif5c-gene-causes-infantile-onset-epilepsy-and-psychomotor-retardation
#20
JOURNAL ARTICLE
Santasree Banerjee, Qiang Zhao, Bo Wang, Jiale Qin, Xin Yuan, Ziwei Lou, Weizeng Zheng, Huanguo Li, Xiaojun Wang, Xiawei Cheng, Yu Zhu, Fan Lin, Fan Yang, Junyu Xu, Anjana Munshi, Parimal Das, Yuanfeng Zhou, Kausik Mandal, Yi Wang, Muhammad Ayub, Nobutaka Hirokawa, Yongmei Xi, Guangfu Chen, Chen Li
Motor proteins, encoded by Kinesin superfamily ( KIF ) genes, are critical for brain development and plasticity. Increasing studies reported KIF 's roles in neurodevelopmental disorders. Here, a 6 years and 3 months-old Chinese boy with markedly symptomatic epilepsy, intellectual disability, brain atrophy, and psychomotor retardation was investigated. His parents and younger sister were phenotypically normal and had no disease-related family history. Whole exome sequencing identified a novel heterozygous in-frame deletion (c...
April 2024: MedComm
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