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https://www.readbyqxmd.com/read/28649782/heterozygous-variants-in-actl6a-encoding-a-component-of-the-baf-complex-are-associated-with-intellectual-disability
#1
Ronit Marom, Mahim Jain, Lindsay C Burrage, I-Wen Song, Brett H Graham, Chester W Brown, Servi J C Stevens, Alexander P A Stegmann, Andrew T Gunter, Julie D Kaplan, Ralitza H Gavrilova, Marwan Shinawi, Jill A Rosenfeld, Yangjin Bae, Alyssa A Tran, Yuqing Chen, James T Lu, Richard A Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B A de Vries, Philippe M Campeau, Brendan Lee
Pathogenic variants in genes encoding components of the BAF chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1...
June 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28649281/chromosome-12q13-13q13-13-microduplication-and-microdeletion-a-case-report-and-literature-review
#2
Jie Hu, Zhishuo Ou, Elena Infante, Sally J Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad, Urvashi Surti
BACKGROUND: Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of systematic analysis of these patients, the common clinical manifestation of these patients has remained elusive. CASE PRESENTATION: Here we report an 802 kb duplication in the 12q13...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28647021/reprint-of-minimizing-noise-in-pediatric-task-based-functional-mri-adolescents-with-developmental-disabilities-and-typical-development
#3
Catherine Fassbender, Prerona Mukherjee, Julie B Schweitzer
Functional Magnetic Resonance Imaging (fMRI) represents a powerful tool with which to examine brain functioning and development in typically developing pediatric groups as well as children and adolescents with clinical disorders. However, fMRI data can be highly susceptible to misinterpretation due to the effects of excessive levels of noise, often related to head motion. Imaging children, especially with developmental disorders, requires extra considerations related to hyperactivity, anxiety and the ability to perform and maintain attention to the fMRI paradigm...
July 1, 2017: NeuroImage
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#4
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28638969/introduction-childhood-and-disability
#5
EDITORIAL
Erica K Salter
From growth attenuation therapy for severely developmentally disabled children to the post-natal management of infants with trisomy 13 and 18, pediatric treatment decisions regularly involve assessments of the probability and severity of a child's disability. Because these decisions are almost always made by surrogate decision-makers (parents and caregivers) and because these decision-makers must often make decisions based on both prognostic guesses and potentially biased quality of life judgments, they are among the most ethically complex in pediatric care...
June 21, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28637536/mental-health-morbidity-among-people-subject-to-immigration-detention-in-the-uk-a-feasibility-study
#6
P Sen, J Arugnanaseelan, E Connell, C Katona, A A Khan, P Moran, K Robjant, K Slade, J Tan, K Widyaratna, J Youd, A Forrester
AIMS: The UK has one of the largest systems of immigration detention in Europe.. Those detained include asylum-seekers and foreign national prisoners, groups with a higher prevalence of mental health vulnerabilities compared with the general population. In light of little published research on the mental health status of detainees in immigration removal centres (IRCs), the primary aim of this study was to explore whether it was feasible to conduct psychiatric research in such a setting...
June 22, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#7
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#8
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28633531/the-effectiveness-of-aided-augmented-input-techniques-for-persons-with-developmental-disabilities-a-systematic-review
#9
Anna A Allen, Ralf W Schlosser, Kristofer L Brock, Howard C Shane
When working with individuals with little or no functional speech, clinicians often recommend that communication partners use the client's augmentative and alternative communication (AAC) device when speaking to the client. This is broadly known as "augmented input" and is thought to enhance the client's learning of language form and content. The purpose of this systematic review was to determine the effects of augmented input on communication outcomes in persons with developmental disabilities and persons with childhood apraxia of speech who use aided AAC...
June 21, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28631968/improving-kindergarten-readiness-in-children-with-developmental-disabilities-changes-in-neural-correlates-of-response-monitoring
#10
Jennifer Martin McDermott, Katherine C Pears, Jacqueline Bruce, Hyoun K Kim, Leslie Roos, Karen L Yoerger, Philip A Fisher
Among children diagnosed with developmental delays, difficulties in self-regulation are prominent and have been linked to school readiness problems. The current study sought to examine the impact of the Kids in Transition to School (KITS) school readiness intervention program on self-regulation, with a specific focus on response monitoring skills, among children with developmental delays. Children (n = 20 in the KITS group and n = 21 in a services as usual group) were administered a flanker task during which event-related potential data were collected to examine group differences in response monitoring...
February 22, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28630658/evidence-of-mitochondrial-dysfunction-in-autism-biochemical-links-genetic-based-associations-and-non-energy-related-mechanisms
#11
REVIEW
Keren K Griffiths, Richard J Levy
Autism spectrum disorder (ASD), the fastest growing developmental disability in the United States, represents a group of neurodevelopmental disorders characterized by impaired social interaction and communication as well as restricted and repetitive behavior. The underlying cause of autism is unknown and therapy is currently limited to targeting behavioral abnormalities. Emerging studies suggest a link between mitochondrial dysfunction and ASD. Here, we review the evidence demonstrating this potential connection...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28629613/out-of-the-institution-into-the-classroom-legal-challenges-to-the-use-of-restraint-and-seclusion-in-school-settings-in-the-united-states
#12
Lycette Nelson
The issue of restraint and seclusion of children with mental and developmental disabilities in schools has gained greater attention in the United States in recent years as more children with disabilities are attending mainstream schools. This article looks at how cases brought on behalf of children who have been subjected to such treatment fit or fail to fit within a well-developed jurisprudence that provides constitutional protections for the rights of people with mental disabilities to be free from discrimination and from cruel and unusual punishment...
June 16, 2017: International Journal of Law and Psychiatry
https://www.readbyqxmd.com/read/28627419/arx-polyalanine-expansion-mutations-lead-to-migration-impediment-in-the-rostral-cortex-coupled-with-a-developmental-deficit-of-calbindin-positive-cortical-gabaergic-interneurons
#13
K Lee, K Ireland, M Bleeze, C Shoubridge
The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development. Patients with ARX polyalanine expansion mutations of the first two tracts (namely PA1 and PA2) suffer from intellectual disability of varying severity, with seizures a frequent comorbidity. The impact of PA1 and PA2 mutations on the brain development is unknown, hindering the search for therapeutic interventions. Here, we characterized the disturbances to cortical interneuron development in mice modeling the two most common ARX polyalanine expansion mutations in human...
June 13, 2017: Neuroscience
https://www.readbyqxmd.com/read/28627366/pqbp1-an-intrinsically-disordered-denatured-protein-at-the-crossroad-of-intellectual-disability-and-neurodegenerative-diseases
#14
REVIEW
Hitoshi Okazawa
PQBP1 (polyglutamine binding protein-1) is the earliest identified molecule among the group of disease-related intrinsically disordered/denatured proteins. PQBP1 interacts with splicing-related factors via the disordered/denatured domain and regulates post-transcriptional gene expression. The mutations cause intellectual disability due to decreased dendritic spines and abnormal expression of synapse molecules in neurons, and microcephaly due to elongated cell cycle time and abnormal expression of cell cycle proteins in neural stem progenitor cells...
June 13, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28626596/management-of-severe-developmental-regression-in-an-autistic-child-with-a-1q21-3-microdeletion-and-self-injurious-blindness
#15
Cora Cravero, Vincent Guinchat, Jean Xavier, Camille Meunier, Lautaro Diaz, Cyril Mignot, Diane Doummar, Sandra Chantot-Bastaraud, Angèle Consoli, David Cohen
We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient's mood...
2017: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/28626020/lack-of-effect-of-vitamin-d3-supplementation-in-autism-a-20-week-placebo-controlled-rct
#16
Conor P Kerley, Clare Power, Louise Gallagher, David Coghlan
OBJECTIVES: Data suggest a potential role for vitamin D in autism spectrum disorder (ASD). We wanted to assess the effect of vitamin D3 supplementation compared with placebo in children with ASD. DESIGN: This was a double-blind, randomised, placebo-controlled trial. SETTING: A paediatric outpatient centre at high latitude over the winter season in Dublin, Ireland (53°N). PATIENTS: 42 children with ASD. INTERVENTIONS: 2000 IU vitamin D3 supplementation or placebo daily for 20 weeks...
June 16, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28626003/transcriptional-complexity-and-distinct-expression-patterns-of-auts2-paralogs-in-danio-rerio
#17
Igor Kondrychyn, Lena Robra, Vatsala Thirumalai
Several genes that have been implicated in autism spectrum disorders are large and have multiple transcripts. Neurons are especially enriched with longer transcripts compared to non-neural cell types. The human autism susceptibility candidate 2 (AUTS2) gene is ~1.2 Mb long and is implicated in a number of neurological disorders including autism, intellectual disability, addiction and developmental delay. Recent studies show AUTS2 to be important for activation of transcription of neural specific genes, neuronal migration and neurite outgrowth...
June 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28622159/weeding-out-the-justification-for-marijuana-treatment-in-patients-with-developmental-and-behavioral-conditions
#18
Theodora Nelson, Yi Hui Liu, Kara S Bagot, Martin T Stein
Alex is a 13-year-old adolescent with high-functioning autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD)-combined type, anxiety, and depression. He has been resistant to engaging in therapy and treatment with various medications has been unsuccessful. Alex's parents are concerned about his anxiety, isolation, oppositional behaviors, academic underachievement, truancy, and substance use. A recent altercation with his stepfather led to a police intervention and a brief removal of Alex from the home...
June 15, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28621492/tendons-and-ligaments-connecting-developmental-biology-to-musculoskeletal-disease-pathogenesis
#19
REVIEW
Hiroshi Asahara, Masafumi Inui, Martin K Lotz
Tendons and ligaments provide connections between muscle and bone or bone and bone to enable locomotion. Damage to tendons and ligaments caused by acute or chronic injury or associated with aging and arthritis is a prevalent cause of disability. Improvements in approaches for the treatment of these conditions depend on a better understanding of tendon and ligament development, cell biology and pathophysiology. This review focuses on recent advances in the discovery of transcription factors that control ligament and tendon cell differentiation, how cell and extracellular matrix homeostasis are altered in disease and how this new insight can lead to novel therapeutic approaches...
June 16, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28613040/chromosomal-microarray-in-clinical-diagnosis-a-study-of-337-patients-with-congenital-anomalies-and-developmental-delays-or-intellectual-disability
#20
Ivona Sansović, Ana-Maria Ivankov, Adriana Bobinec, Mijana Kero, Ingeborg Barišić
AIM: To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). METHOD: CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA...
June 14, 2017: Croatian Medical Journal
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