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Developmental disability

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28612834/sex-chromosome-aneuploidies-and-copy-number-variants-a-further-explanation-for-neurodevelopmental-prognosis-variability
#15
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David, Bertrand Isidor
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV)...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28612475/how-hiv-affects-health-and-service-use-for-adults-with-intellectual-and-developmental-disabilities
#16
A Durbin, H K Brown, S Bansal, T Antoniou, J K H Jung, Y Lunsky
OBJECTIVE(S): Although rates of human immunodeficiency virus (HIV) are similar for individuals with and without intellectual and developmental disabilities (IDD), very little is known about the health needs and service use of those with IDD and HIV. Among a population with IDD, we compared the physical and mental health profiles, as well as general and mental health service use for those with and without HIV. DESIGN: Retrospective cohort study in Ontario, Canada using linked administrative health and social service databases...
July 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28611576/maternal-different-degrees-of-iodine-deficiency-during-pregnant-and-lactation-impair-the-development-of-cerebellar-pinceau-in-offspring
#17
Jing Dong, Heling Song, Yuan Wang, Min Li, Ye Yu, Yi Wang, Jie Chen
Aims: Iodine is critical for synthesis of thyroid hormones (TH). And iodine deficiency (ID) is one of the most significant reasons of intellectual disability and motor memory impairment, although the potential mechanisms are still under investigation. Presently, mild ID and marginal ID are largely ignored problems for women of child bearing age. Mild ID is a subtle form of TH deficiency, which shows low levels of free thyroxine (FT4) and relatively normal free triiodothyronine (FT3) or thyroid stimulation hormone (TSH)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28608774/parent-perspectives-of-applying-mindfulness-based-stress-reduction-strategies-to-special-education
#18
Meghan M Burke, Neilson Chan, Cameron L Neece
Parents of children with (versus without) intellectual and developmental disabilities report greater stress; such stress may be exacerbated by dissatisfaction with school services, poor parent-school partnerships, and the need for parent advocacy. Increasingly, mindfulness interventions have been used to reduce parent stress. However, it is unclear whether parents apply mindfulness strategies during the special education process to reduce school-related stress. To investigate whether mindfulness may reduce school-related stress, interviews were conducted with 26 parents of children with intellectual and developmental disabilities who completed a mindfulness-based stress reduction intervention...
June 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28608770/evolving-definitions-of-autism-and-impact-on-eligibility-for-developmental-disability-services-california-case-example
#19
Marian E Williams, Barbara Y Wheeler, Lisa Linder, Robert A Jacobs
When establishing eligibility for developmental disability (DD) services, definitions of specific diagnostic conditions, such as autism, impact policy. Under the Medicaid home and community-based waiver program, states have discretion in determining specific program or service eligibility criteria, the nature of supports to be provided, and the number of individuals to be served. Individuals with DD, their families, and advocates have pushed to expand eligibility and improve the quality of services and supports received...
June 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28607889/outcomes-of-newborn-hearing-screening-program-a-hospital-based-study
#20
Kavita Sachdeva, Tulsi Sao
Hearing loss is hidden disability and second most common congenital pathology. Prevention, early identification and early intervention of hearing loss can prevent further disability in development of speech, language, cognition and other developmental domains. The prevalence of congenital hearing loss has been estimated to be 1.2-5.7 per thousand in neonates. In these contexts, the aim of study was to determine outcomes of neonates hearing screening program in Hospital. It is a clinical cross-sectional study which was conducted in tertiary care centre from 8th July, 2015 to 31th May, 2016...
June 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
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