keyword
https://read.qxmd.com/read/38524542/clinical-and-genetic-analysis-of-trichohepatoneurodevelopmental-syndrome-caused-by-a-ccdc47-variant
#21
JOURNAL ARTICLE
Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo
Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+ -binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with CCDC47 deficiency have been reported, all of them with homozygous truncating CCDC47 variants. For this study, a Chinese family was recruited, which included a patient diagnosed with trichohepatoneurodevelopmental syndrome. Whole exome sequencing (WES) identified the proband's novel homozygous CCDC47 variation (NM_020198: c...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38524513/effectiveness-of-sensory-integration-therapy-in-children-focusing-on-korean-children-a-systematic-review-and-meta-analysis
#22
JOURNAL ARTICLE
Seri Oh, Jong-Sik Jang, A-Ra Jeon, Geonwoo Kim, Mihwa Kwon, Bahoe Cho, Narae Lee
BACKGROUND: Sensory integration intervention is highly related to the child's effective interaction with the environment and the child's development. Currently, various sensory integration interventions are being applied, but research methodological problems are arising due to unsystematic protocols. This study aims to present the optimal intervention protocol by presenting scientific standards for sensory integration intervention through meta-analysis. AIM: To prove the effectiveness of sensory integration therapy, examine the latest trend of sensory integration studies in Korea, and provide clinical evidence for sensory integration therapies...
March 6, 2024: World Journal of Clinical Cases
https://read.qxmd.com/read/38524155/healthcare-utilization-and-clinical-characteristics-of-genetic-epilepsy-in-electronic-health-records
#23
JOURNAL ARTICLE
Christian M Boßelmann, Alina Ivaniuk, Mark St John, Sara C Taylor, Gokul Krishnaswamy, Alex Milinovich, Costin Leu, Ajay Gupta, Elia M Pestana-Knight, Imad Najm, Dennis Lal
Understanding the clinical characteristics and medical treatment of individuals affected by genetic epilepsies is instrumental in guiding selection for genetic testing, defining the phenotype range of these rare disorders, optimizing patient care pathways and pinpointing unaddressed medical need by quantifying healthcare resource utilization. To date, a matched longitudinal cohort study encompassing the entire spectrum of clinical characteristics and medical treatment from childhood through adolescence has not been performed...
2024: Brain communications
https://read.qxmd.com/read/38523413/a-comprehensive-analysis-of-age-of-onset-and-cumulative-incidence-of-mental-disorders-a-danish-register-study
#24
JOURNAL ARTICLE
Christoffer Beck, Carsten Bøcker Pedersen, Oleguer Plana-Ripoll, Søren Dalsgaard, Jean-Christophe Philippe Debost, Thomas Munk Laursen, Katherine Louise Musliner, Preben Bo Mortensen, Marianne Giørtz Pedersen, Liselotte Vogdrup Petersen, Zeynep Yilmaz, John McGrath, Esben Agerbo
BACKGROUND: The age of onset (AOO), incidence and cumulative incidence of mental disorders are critical epidemiological measures, providing essential insights into the development and course of these disorders across the lifespan. This study aims to provide up-to-date estimates of the AOO, age-specific incidence, and cumulative incidence for a comprehensive range of mental disorders using data from Danish registers. METHODS: We conducted a follow-up study encompassing all Danish residents from January 1, 2004, to December 31, 2021, totaling 91,613,465 person-years...
March 24, 2024: Acta Psychiatrica Scandinavica
https://read.qxmd.com/read/38523034/reprint-of-recessive-apc2-missense-variants-associated-with-epilepsies-without-neurodevelopmental-disorders
#25
JOURNAL ARTICLE
Liang Jin, Yun Li, Sheng Luo, Qian Peng, Qiong-Xiang Zhai, Jin-Xia Zhai, Liang-Di Gao, Jia-Jun Guo, Wang Song, Yong-Hong Yi, Na He, Yong-Jun Chen
OBJECTIVES: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy. METHODS: Whole-exome sequencing (WES) was performed in cases (trios) with epilepsies of unknown causes...
March 21, 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38522837/fmrp-expression-correlates-with-iq-in-both-pbmcs-and-fibroblasts-from-individuals-with-a-fmr1-mutation
#26
JOURNAL ARTICLE
Poonnada Jiraanont, Marwa Zafarullah, Noor Sulaiman, Glenda M Espinal, Jamie L Randol, Blythe Durbin-Johnson, Andrea Schneider, Randi J Hagerman, Paul J Hagerman, Flora Tassone
Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene. As a consequence, little or no FMR1 protein (FMRP) is produced; absence of the protein, which normally is responsible for neuronal development and maintenance, causes the syndrome. Previous studies have demonstrated the causal relationship between FMRP levels and cognitive abilities in peripheral blood mononuclear cells (PBMCs) and dermal fibroblast cell lines of patients with FXS...
March 22, 2024: Journal of Molecular Diagnostics: JMD
https://read.qxmd.com/read/38522809/skeletal-abnormalities-in-mice-with-dnmt3a-missense-mutations
#27
JOURNAL ARTICLE
Austin Bell-Hensley, Diana C Beard, Kathryn Feeney, Hongjun Zheng, Yunhao Jiang, Xiyun Zhang, Jin Liu, Harrison Gabel, Audrey McAlinden
Overgrowth and intellectual disability disorders in humans are typified by length/height and/or head circumference ≥ 2 standard deviations above the mean as well as intellectual disability and behavioral comorbidities, including autism and anxiety. Tatton-Brown-Rahman Syndrome is one type of overgrowth and intellectual disability disorder caused by heterozygous missense mutations in the DNA methyltransferase 3A (DNMT3A) gene. Numerous DNMT3A mutations have been identified in Tatton-Brown-Rahman Syndrome patients and may be associated with varying phenotype severities of clinical presentation...
March 22, 2024: Bone
https://read.qxmd.com/read/38522727/neurodevelopmental-disorders-caused-by-variants-in-trpm3
#28
JOURNAL ARTICLE
Robbe Roelens, Ana Nogueira Freitas Peigneur, Thomas Voets, Joris Vriens
Developmental and epileptic encephalopathies (DEE) are a broad and varied group of disorders that affect the brain and are characterized by epilepsy and comorbid intellectual disability (ID). These conditions have a broad spectrum of symptoms and can be caused by various underlying factors, including genetic mutations, infections, and other medical conditions. The exact cause of DEE remains largely unknown in the majority of cases. However, in around 25 % of patients, rare nonsynonymous coding variants in genes encoding ion channels, cell-surface receptors, and other neuronally expressed proteins are identified...
March 22, 2024: Biochimica et Biophysica Acta. Molecular Cell Research
https://read.qxmd.com/read/38522116/sleep-quality-relates-to-language-impairment-in-children-with-autism-spectrum-disorder-without-intellectual-disability
#29
JOURNAL ARTICLE
Carmen Berenguer, Eva Rosa, Simona De Stasio, Nora Choque Olsson
OBJECTIVES: This study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. METHODS: We evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good)...
March 18, 2024: Sleep Medicine
https://read.qxmd.com/read/38521028/pcdh19-clustering-epilepsy-pathophysiology-and-clinical-significance
#30
REVIEW
Safoura Kowkabi, Majid Yavarian, Reza Kaboodkhani, Mahmood Mohammadi, Reza Shervin Badv
PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behavioral disturbances, which is caused by PCDH19 gene variants. PCDH19 pathogenic variant leads to epilepsy in heterozygous females, not in hemizygous males and the inheritance pattern is unusual. The hypothesis of cellular interference was described as a key pathogenic mechanism. According to that, males do not develop the disease because of the uniform expression of PCDH19 (variant or wild type) unless they have a somatic variation...
March 22, 2024: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38520885/lexical-skills-and-gesture-use-a-comparison-between-expressive-and-receptive-expressive-late-talkers
#31
JOURNAL ARTICLE
Caterina Verganti, Chiara Suttora, Mariagrazia Zuccarini, Arianna Aceti, Luigi Corvaglia, Arianna Bello, M Cristina Caselli, Annalisa Guarini, Alessandra Sansavini
BACKGROUND: Studies on late talkers (LTs) highlighted their heterogeneity and the relevance of describing different communicative profiles. AIMS: To examine lexical skills and gesture use in expressive (E-LTs) vs. receptive-expressive (R/E-LTs) LTs through a structured task. METHODS AND PROCEDURES: Forty-six 30-month-old screened LTs were distinguished into E-LTs (n= 35) and R/E-LTs (n= 11) according to their receptive skills. Lexical skills and gesture use were assessed with a Picture Naming Game by coding answer accuracy (correct, incorrect, no response), modality of expression (spoken, spoken-gestural, gestural), type of gestures (deictic, representational), and spoken-gestural answers' semantic relationship (complementary, equivalent, supplementary)...
March 22, 2024: Research in Developmental Disabilities
https://read.qxmd.com/read/38520561/biallelic-variants-in-gtf3c5-a-regulator-of-rna-polymerase-iii-mediated-transcription-cause-a-multisystem-developmental-disorder
#32
JOURNAL ARTICLE
Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Sarah K Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, Paige Ernste, Lauren Lulis, Addie Nesbitt, Ahmad Abou Tayoun, Christopher Gray, Meghan C Towne, Kelly Radtke, Elizabeth A Normand, Lindsay Rhodes, Christoph Seiler, Katsuhiko Shirahige, Kosuke Izumi
General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate the transcription of small noncoding RNAs, such as tRNAs. Here, we report four individuals from three families presenting with a multisystem developmental disorder phenotype with biallelic variants in GTF3C5. The overlapping features include growth retardation, developmental delay, intellectual disability, dental anomalies, cerebellar malformations, delayed bone age, skeletal anomalies, and facial dysmorphism...
March 23, 2024: Human Genetics
https://read.qxmd.com/read/38520280/the-strength-of-frontline-practice-leadership-in-australian-supported-accommodation-services-challenges-confronting-service-providers
#33
JOURNAL ARTICLE
Christine Bigby, Lincoln Humphreys
BACKGROUND: The strength of practice leadership predicts the quality of Active Support but it can be compromised by other demands on frontline managers. The study aimed to identify and understand differences in practice leadership over time and between organisations. METHOD: Data collected in 2022 in 96 services from 11 organisations using the Observed Measure of Practice Leadership were compared to similar data from 2013 and 2018. Qualitative fieldnotes were analysed thematically...
May 2024: Journal of Applied Research in Intellectual Disabilities: JARID
https://read.qxmd.com/read/38520260/undiagnosed-rare-disease-clinic-identifies-a-novel-ube3a-variant-in-two-sisters-with-angelman-syndrome-the-end-of-a-diagnostic-odyssey
#34
JOURNAL ARTICLE
Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S Murthy, Lili Mantcheva, Wilfredo Torres, Erin Conboy, Francesco Vetrini
Angelman syndrome (AS, MIM #105830) is a neurodevelopmental disorder characterized by severe intellectual disability, profound developmental delay, movement or balance problems, an excessively cheerful disposition, and seizures. AS results from inadequate expression of the maternal UBE3A gene (MIM #601623), which encodes an E3 ligase in the ubiquitin-proteasome pathway. Here we present the case of two sisters with features consistent with AS who had negative methylation analyses. An autism/intellectual disability expanded panel revealed a maternally inherited novel UBE3A (NM_001354506...
March 23, 2024: Congenital Anomalies
https://read.qxmd.com/read/38520205/physical-health-conditions-in-young-children-with-profound-intellectual-and-multiple-disabilities-the-prevalence-and-associations-between-these-conditions
#35
JOURNAL ARTICLE
Anouk Mol-Bakker, Annette A J Van der Putten, Wim P Krijnen, Aly Waninge
BACKGROUND: It is thought that physical health conditions start at a young age in people with profound intellectual and multiple disabilities (PIMD). Knowledge regarding the prevalence, associations and development of these physical health conditions could be used for purposes of prevention as well as appropriate care and support but is currently lacking. OBJECTIVE: The aim of this study is to gain insight into the prevalence of physical health conditions and associations between these conditions in young children with PIMD...
March 2024: Child: Care, Health and Development
https://read.qxmd.com/read/38520180/supported-employment-quality-of-jobs-and-employment-typicalness-the-experience-of-the-engage-to-change-project
#36
JOURNAL ARTICLE
Elisa Vigna, Andrea Meek, Stephen Beyer
BACKGROUND: Paid employment represents a challenge for people with an intellectual disability and/or autism. This paper analyses the quality of jobs offered by the Engage to Change project and their relationship to the 'typicalness' of the employment offered. METHOD: Data on the quality of 384 paid jobs were collected, including hours worked and wages earned, and reported social integration at work. The typicalness of the employment experience was assessed for 141 young people, using the Index of Typicalness of Placement Questionnaire...
May 2024: Journal of Applied Research in Intellectual Disabilities: JARID
https://read.qxmd.com/read/38520166/a-remotely-delivered-pilot-and-feasibility-program-to-promote-physical-and-food-literacy-in-adolescents-with-intellectual-disabilities
#37
JOURNAL ARTICLE
C Curtin, L G Bandini, M Forquer, P Cullen, K M Rancaño, A Must, K Schreck, A B Bowling, N Askenazy, X Wei, C Irish, H I Stanish
BACKGROUND: Youth with intellectual disabilities experience disparities in physical activity and diet quality. Physical and food literacy are hypothesised to support adoption of healthy lifestyles; however, few such interventions have been developed for this population. METHOD: Participants with intellectual disabilities ages 12-16 years were recruited for a 12-week online sports skills and nutrition education intervention. Feasibility, acceptability, and preliminary efficacy were assessed by attendance, satisfaction, and pre-post measures of motor skills, perceived competence and motivation for physical activity, classifying foods, making healthy choices, and food consumption...
May 2024: Journal of Applied Research in Intellectual Disabilities: JARID
https://read.qxmd.com/read/38519529/hypomagnesaemia-with-varying-degrees-of-extrarenal-symptoms-as-a-consequence-of-heterozygous-cnnm2-variants
#38
JOURNAL ARTICLE
Willem Bosman, Gijs A C Franken, Javier de Las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H F de Baaij, Joost G J Hoenderop
Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg2+ transport. Pathogenicity of these variants is further supported by structural modelling, which predicts CNNM2 structure to be affected by all of them...
March 22, 2024: Scientific Reports
https://read.qxmd.com/read/38518585/a-meta-analytic-review-of-anger-management-activities-that-increase-or-decrease-arousal-what-fuels-or-douses-rage
#39
REVIEW
Sophie L Kjærvik, Brad J Bushman
Anger is an unpleasant emotion that most people want to get rid of. Some anger management activities focus on decreasing arousal (e.g., deep breathing, mindfulness, meditation), whereas others focus on increasing arousal (e.g., hitting a bag, jogging, cycling). This meta-analytic review, based on 154 studies including 184 independent samples involving 10,189 participants, tested the effectiveness of both types of activities. The results indicated that arousal-decreasing activities decreased anger and aggression (g = -0...
March 11, 2024: Clinical Psychology Review
https://read.qxmd.com/read/38517617/roles-of-kcna2-in-neurological-diseases-from-physiology-to-pathology
#40
REVIEW
Changning Xie, Miriam Kessi, Fei Yin, Jing Peng
Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-function (LOF), and a mixed type (GOF/LOF) variants can cause different conditions/disorders. KCNA2-related neurological diseases include epilepsy, intellectual disability (ID), attention deficit/hyperactive disorder (ADHD), autism spectrum disorder (ASD), pain as well as autoimmune and movement disorders...
March 22, 2024: Molecular Neurobiology
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