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https://www.readbyqxmd.com/read/29474920/a-mild-pum1-mutation-is-associated-with-adult-onset-ataxia-whereas-haploinsufficiency-causes-developmental-delay-and-seizures
#1
Vincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, Li Wang, Carolyn J Adamski, Amanda Koire, Lauren See, Chun-An Chen, Christian P Schaaf, Jill A Rosenfeld, Jessica A Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P Kirk, Pawel Stankiewicz, Amy M Breman, Arran McBride, Tejaswi Kandula, Holly A Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith-Rae Dias, Megan T Cho, Lindsay B Henderson, Berivan Baskin, Paula Morris, Jiang Tao, Mark J Cowley, Marcel E Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani K Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M Boycott, J Lloyd Holder, Huda Y Zoghbi
Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice. We therefore searched for human patients with PUM1 mutations. We identified eleven individuals with either PUM1 deletions or de novo missense variants who suffer a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS)...
February 22, 2018: Cell
https://www.readbyqxmd.com/read/29473259/depression-and-anxiety-symptoms-during-the-transition-to-early-adulthood-for-people-with-intellectual-disabilities
#2
K L Austin, M Hunter, E Gallagher, L E Campbell
BACKGROUND: The transition to adulthood is a major developmental milestone; a time of self-discovery and increased independence. For young adults (YA) with intellectual disabilities (ID), however, this period is especially challenging. The increased incidence of mental health disorders in this population, such as depression and anxiety, make this transition even more difficult, increasing caregiver burden at a time when the young adult would traditionally be gaining independence. It is not clear, however, why YA with ID are more susceptible and what factors may predict mental health symptoms...
February 23, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29471978/generalization-and-maintenance-of-functional-communication-training-for-individuals-with-developmental-disabilities-a-systematic-and-quality-review
#3
Leslie Neely, Elaina Garcia, Brooke Bankston, Andrew Green
BACKGROUND: Functional communication training (FCT) is considered an evidence-based practice for treating problem behavior in individuals with developmental disabilities (e.g. autism, intellectual disabilities, down syndrome, etc.). However, there is little known on how to sustain behavioral change following FCT interventions. This systematic and quality review synthesizes the current literature base evaluating the maintenance and generalization of behavioral effects following FCT. METHOD: A systematic review identified 37 studies that met the pre-set inclusion criteria...
February 19, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29468770/pessary-for-preterm-birth-prevention-in-twin-pregnancy-with-short-cervix-3-year-follow-up-study
#4
Janneke van 't Hooft, Johanna H van der Lee, Brent C Opmeer, Aleid G van Wassenaer-Leemhuis, Anneloes L van Baar, Dick J Bekedam, Leonie J P Steenis, Sophie Liem, Ewoud Schuit, Cuny Cuijpers, Elise Bleeker, Margot E Vinke, Noor Simons, Irene M de Graaf, Ben Willem J Mol, Cornelieke van de Beek
OBJECTIVE: We recently found in a randomized clinical trial (ProTWIN) that cervical pessary prevented preterm birth and improved neonatal outcome in women with a multiple pregnancy and a cervical length (CL) <38mm. In this follow-up study we evaluated long-term developmental outcomes in the offspring of these women at three years corrected age. METHODS: We conducted a follow-up study of the ProTWIN trial, a trial in which between 2009 and 2012 asymptomatic women with a multiple pregnancy had been randomized to pessary or no pessary...
February 22, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29467824/familial-intellectual-disability-as-a-result-of-a-derivative-chromosome-22-originating-from-a-balanced-translocation-3-22-in-a-four-generation-family
#5
Zhang Kaihui, Huang Yan, Dong Rui, Yang Yali, Wang Ying, Zhang Haiyan, Zhang Yufeng, Gai Zhongtao, Liu Yi
Background: Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Here we describe a four-generation family in Shandong province of China with at least three patients sharing severe intellectual disability and developmental delay resulting from a derivative chromosome 22 originating from a balanced translocation (3;22) involving chromosomes 3q28q29 and 22q13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29463135/investigating-a-theatre-based-intervention-for-indigenous-youth-with-fetal-alcohol-spectrum-disorder-exploration-d-une-intervention-bas%C3%A3-e-sur-le-th%C3%A3-%C3%A3-tre-aupr%C3%A3-s-de-jeunes-autochtones-atteints-du-syndrome-d-alcoolisme-f%C3%A5-tal
#6
Michelle Keightley, Sabrina Agnihotri, Sivaniya Subramaniapillai, Julia Gray, Jennifer Keresztesi, Angela Colantonio, Helene J Polatajko, Debra Cameron, Catherine Wiseman-Hakes
BACKGROUND: Theatre-based interventions use artistic media to facilitate social and emotional awareness and have therapeutic benefits for persons with developmental disabilities and mental health problems. The role of these interventions with Indigenous youth who have emotional, behavioural, and cognitive sequelae related to fetal alcohol spectrum disorder (FASD) has not been explored. PURPOSE: The purpose of this study was to explore the experiences and acceptability of a theatre-based approach for facilitating social communication and engagement in youth with FASD...
January 1, 2018: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
https://www.readbyqxmd.com/read/29460469/further-delineation-of-an-entity-caused-by-crebbp-and-ep300-mutations-but-not-resembling-rubinstein-taybi-syndrome
#7
Leonie A Menke, Thatjana Gardeitchik, Peter Hammond, Ketil R Heimdal, Gunnar Houge, Sophia B Hufnagel, Jianling Ji, Stefan Johansson, Sarina G Kant, Esther Kinning, Eyby L Leon, Ruth Newbury-Ecob, Stefano Paolacci, Rolph Pfundt, Nicola K Ragge, Tuula Rinne, Claudia Ruivenkamp, Sulagna C Saitta, Yu Sun, Marco Tartaglia, Paulien A Terhal, Anthony J van Essen, Magnus D Vigeland, Bing Xiao, Raoul C Hennekam
In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity...
February 20, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29458334/identification-of-novel-l2hgdh-mutation-in-a-large-consanguineous-pakistani-family-a-case-report
#8
Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L Baple, Andrew H Crosby, Barry A Chioza
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits. CASE PRESENTATION: We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, and ataxia...
February 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29456765/peripheral-blood-epi-signature-of-claes-jensen-syndrome-enables-sensitive-and-specific-identification-of-patients-and-healthy-carriers-with-pathogenic-mutations-in-kdm5c
#9
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic
Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. We hypothesized that loss of Kdm5c function may influence other components of the epigenomic machinery including DNA methylation in affected patients...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29454059/towards-a-regulatory-use-of-alternative-developmental-neurotoxicity-testing-dnt
#10
Andrea Terron, Susanne Hougaard Bennekou
There is a need for a more effective Developmental Neurotoxicity (DNT) screening which is scientifically driven by the fact that the developing nervous system might be more sensitive to exposures to some hazardous chemical. Additional concern comes from the recent societal concerns that toxic chemicals can contribute to the prevalence of neurodevelopment disabilities. Consequently, hazard identification and actions to reduce exposure to these chemicals is a priority in chemical risk assessment. To reach this goal a cost-efficient testing strategy based on a reliable in-vitro testing battery should be developed...
February 14, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29453235/a-workforce-survey-on-developmental-behavioral-pediatrics
#11
Carolyn Bridgemohan, Nerissa S Bauer, Britt A Nielsen, Anne DeBattista, Holly S Ruch-Ross, Linda B Paul, Nancy Roizen
BACKGROUND AND OBJECTIVES: Developmental-behavioral conditions are common, affecting ∼15% of US children. The prevalence and complexity of these conditions are increasing despite long wait times and a limited pipeline of new providers. We surveyed a convenience sample of the developmental-behavioral pediatric (DBP) workforce to determine current practices, workforce trends, and future needs. METHODS: An electronic survey was e-mailed to 1568 members of the American Academy of Pediatrics Section on Developmental and Behavioral Pediatrics and Council on Children with Disabilities, the Society for Developmental and Behavioral Pediatrics, and the National Association of Pediatric Nurse Practitioners Developmental and Behavioral Mental Health Special Interest Group...
February 16, 2018: Pediatrics
https://www.readbyqxmd.com/read/29449050/a-novel-truncating-mutation-in-flna-causes-periventricular-nodular-heterotopia-ehlers-danlos-like-collagenopathy-and-macrothrombocytopenia
#12
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi, Tsutomu Shinohara, Ayako Hattori, Takenori Kato, Sachiko Inukai, Katsumasa Kitamura, Tomoki Kawai, Osamu Ohara, Shinji Kunishima, Shinji Saitoh
INTRODUCTION: Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an attempt to establish a clearer correlation between clinical symptoms and genotype, we have investigated a phenotype that involves thrombocytopenia in a patient with a truncation of the FLNA gene...
February 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29447214/high-efficiency-classification-of-children-with-autism-spectrum-disorder
#13
Genyuan Li, Olivia Lee, Herschel Rabitz
Autism spectrum disorder (ASD) is a wide-ranging collection of developmental diseases with varying symptoms and degrees of disability. Currently, ASD is diagnosed mainly with psychometric tools, often unable to provide an early and reliable diagnosis. Recently, biochemical methods are being explored as a means to meet the latter need. For example, an increased predisposition to ASD has been associated with abnormalities of metabolites in folate-dependent one carbon metabolism (FOCM) and transsulfuration (TS)...
2018: PloS One
https://www.readbyqxmd.com/read/29446091/an-evaluation-of-delay-to-reinforcement-and-mand-variability-during-functional-communication-training
#14
Colin S Muething, Terry S Falcomata, Raechal Ferguson, Samantha Swinnea, Cayenne Shpall
Children with autism spectrum disorder and other developmental disabilities often exhibit invariant responding (i.e., restricted behavioral repertoires), deficits in communication, and challenging behavior. Approaches demonstrated in the basic and applied literature to increase response variability include extinction, lag schedules of reinforcement, and percentile schedules of reinforcement. Results of basic studies have also indicated that delays to reinforcement often produce increases in response variability...
February 14, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29446032/attention-deficit-hyperactivity-disorder-joint-hypermobility-related-disorders-and-pain-expanding-body-mind-connections-to-the-developmental-age
#15
REVIEW
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/29441708/loneliness-in-people-with-intellectual-and-developmental-disorders-across-the-lifespan-a-systematic-review-of-prevalence-and-interventions
#16
REVIEW
Petroutsou Alexandra, Hassiotis Angela, Afia Ali
BACKGROUND: The aim of the study was to conduct the first systematic review investigating the prevalence of loneliness in people with intellectual developmental disabilities (IDD) and the interventions targeting loneliness. METHOD: A search across five databases was conducted (May 2016-June 2016). One reviewer (A. P.) selected the articles for inclusion and assessed their risk of bias using a standardized tool. The second reviewer (A. H.) examined the list of included/excluded articles and the ratings of the studies...
February 14, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29441282/specific-learning-disability-in-mathematics-a-comprehensive-review
#17
REVIEW
Neelkamal Soares, Teresa Evans, Dilip R Patel
Math skills are necessary for success in the childhood educational and future adult work environment. This article reviews the changing terminology for specific learning disabilities (SLD) in math and describes the emerging genetics and neuroimaging studies that relate to individuals with math disability (MD). It is important to maintain a developmental perspective on MD, as presentation changes with age, instruction, and the different models (educational and medical) of identification. Intervention requires a systematic approach to screening and remediation that has evolved with more evidence-based literature...
January 2018: Translational Pediatrics
https://www.readbyqxmd.com/read/29437246/early-movement-restriction-leads-to-enduring-disorders-in-muscle-and-locomotion
#18
Maxime Delcour, Vicky S Massicotte, Michaël Russier, Hélène Bras, Julie Peyronnet, Marie-Hélène Canu, Florence Cayetanot, Mary F Barbe, Jacques-Olivier Coq
Motor control and body representation in the central nervous system (CNS) as well as musculoskeletal architecture and physiology are shaped during development by sensorimotor experience and feedback, but the emergence of locomotor disorders during maturation and their persistence over time remain a matter of debate in the absence of brain damage. By using transient immobilization of the hind limbs, we investigated the enduring impact of postnatal sensorimotor restriction (SMR) on gait and posture on treadmill, age-related changes in locomotion, musculoskeletal histopathology and Hoffmann reflex in adult rats without brain damage...
February 13, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29437050/motor-abnormalities-and-epilepsy-in-infants-and-children-with-evidence-of-congenital-zika-virus-infection
#19
André Pessoa, Vanessa van der Linden, Marshalyn Yeargin-Allsopp, Maria Durce Costa Gomes Carvalho, Erlane Marques Ribeiro, Kim Van Naarden Braun, Maureen S Durkin, Daniel M Pastula, Jazmyn T Moore, Cynthia A Moore
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; the phenotype has broadened to include microcephaly that develops after birth and neurodevelopmental sequelae. In this narrative review, we summarize medical literature describing motor abnormalities and epilepsy in infants with evidence of congenital ZIKV infection and provide information on the impact of these conditions. Specific scenarios are used to illustrate the complex clinical course in infants with abnormalities that are consistent with congenital Zika syndrome...
February 2018: Pediatrics
https://www.readbyqxmd.com/read/29435807/treatment-outcome-of-creatine-transporter-deficiency-international-retrospective-cohort-study
#20
Theodora U J Bruun, Sarah Sidky, Anabela O Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S Salomons, Saadet Mercimek-Andrews
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
February 12, 2018: Metabolic Brain Disease
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