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https://www.readbyqxmd.com/read/29914390/slc4a4-compound-heterozygous-mutations-in-exon-intron-boundary-regions-presenting-with-severe-proximal-renal-tubular-acidosis-and-extrarenal-symptoms-coexisting-with-turner-s-syndrome-a-case-report
#1
Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku
BACKGROUND: Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. CASE PRESENTATION: We performed direct nucleotide sequencing analysis of exons and exon-intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs...
June 18, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29911334/effects-of-reinforcement-without-extinction-on-increasing-compliance-with-nail-cutting-a-systematic-replication
#2
Art Dowdy, Matt Tincani, Timothy Nipe, Mary Jane Weiss
Personal hygiene routines, such as nail cutting, are essential for maintaining good health. However, individuals with autism spectrum disorder (ASD) and other developmental disabilities often struggle to comply with essential, personal hygiene routines. We conducted a systematic replication of, and to evaluate an intervention that did not require escape extinction for increasing compliance with nail cutting. With two adolescents diagnosed with ASD who resisted nail cutting, we evaluated the effects of delivering a preferred edible item contingent on compliance with nail cutting...
June 17, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29910801/lifelong-impacts-of-moderate-prenatal-alcohol-exposure-on-neuroimmune-function
#3
REVIEW
Shahani Noor, Erin D Milligan
In utero alcohol exposure is emerging as a major risk factor for lifelong aberrant neuroimmune function. Fetal alcohol spectrum disorder encompasses a range of behavioral and physiological sequelae that may occur throughout life and includes cognitive developmental disabilities as well as disease susceptibility related to aberrant immune and neuroimmune actions. Emerging data from clinical studies and findings from animal models support that very low to moderate levels of fetal alcohol exposure may reprogram the developing central nervous system leading to altered neuroimmune and neuroglial signaling during adulthood...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29908673/is-hiragana-decoding-impaired-in-children-with-periventricular-leukomalacia
#4
Naoko Kurahashi, Yukiko Futamura, Norie Nonobe, Shunsuke Ogaya, Yuki Maki, Ikuko Yoshimura, Takeshi Suzuki, Yosuke Hosokawa, Keitaro Yamada, Kosaburo Aso, Koichi Maruyama, Miho Nakamura
BACKGROUND: There are few studies on hiragana reading skill and phonological awareness in Japanese schoolchildren with periventricular leukomalacia (PVL). METHODS: Three seven-year-old children with PVL who had no intellectual disabilities or dysarthria were recruited. Their perinatal information, brain magnetic resonance image (MRI) at term equivalent age, accompanying neurodevelopmental disorders, ophthalmologic features, Kaufman Assessment Battery for Children (K-ABC), a hiragana reading test (four tasks), and a phonological awareness task (mora reversal tasks) were analyzed...
June 13, 2018: Brain & Development
https://www.readbyqxmd.com/read/29908352/man1b-cdg-novel-variants-with-a-distinct-phenotype-and-review-of-literature
#5
Meena Balasubramanian, Diana S Johnson
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. It comprises a characteristic high frequency of intellectual disability (ID) and a wide range of clinical phenotypes. OBJECTIVE: (s): To identify the underlying diagnosis in two families each with two siblings with variable level of ID through trio whole exome sequencing. METHODS: Both the families were recruited to the Deciphering Developmental Disorders (DDD) study to identify the aetiology for their ID...
June 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29907757/set-de-novo-frameshift-variants-associated-with-developmental-delay-and-intellectual-disabilities
#6
Ruth Richardson, Miranda Splitt, Ruth Newbury-Ecob, Alice Hulbert, Joanna Kennedy, Astrid Weber
Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET is a new Intellectual Disability/Developmental Delay (ID/DD) gene.
June 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29904325/protection-of-privacy-of-information-rights-among-young-adults-with-developmental-disabilities
#7
Nazilla Khanlou, Anne Mantini, Attia Khan, Katie Degendorfer, Masood Zangeneh
Protection of privacy of information for young adults with developmental disabilities and their families is essential to promote quality of life, well-being, empowerment, and inclusion. Despite this, the young adults' information privacy rights are increasingly at risk. This paper provides a scoping review, applying Arksey and O'Malley's (2005) approach, of all published peer-reviewed journal articles and gray literature to examine the barriers and facilitators in utilization of legislation that protects the collection, use, disclosure, and access of personal information in Canada...
2018: International Journal of Mental Health and Addiction
https://www.readbyqxmd.com/read/29900417/the-tatton-brown-rahman-syndrome-a-clinical-study-of-55-individuals-with-de-novo-constitutive-dnmt3a-variants
#8
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novo DNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29899504/a-kat6a-variant-in-a-family-with-autosomal-dominantly-inherited-microcephaly-and-developmental-delay
#9
Joanne Trinh, Irina Hüning, Zafer Yüksel, Nadja Baalmann, Sophie Imhoff, Christine Klein, Arndt Rolfs, Gabriele Gillessen-Kaesbach, Katja Lohmann
Approximately 1-3% of children have intellectual disability or global developmental delay. Heterozygous mutations have emerged as a major cause of different intellectual disability syndromes. In severely affected patients, reproductive fitness is impaired and mutations have usually arisen de novo. Massive parallel sequencing has been an effective means of diagnosing patients, especially those who carry a de novo mutation. The molecular diagnosis can be a way to shift from a more phenotype-driven management of the clinical signs to a more refined treatment based on genotype...
June 13, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29898061/what-increases-the-risk-of-dental-traumatism-in-patients-with-developmental-disabilities
#10
Xana Carolina de Pereira E Souza, Mauro Henrique Nogueira Guimarães Abreu, Vera Lúcia Silva Resende, Lia Silva de Castilho
This study investigated risk factors for tooth injuries in individuals from a dental clinical reference service for patients with special needs in Belo Horizonte, MG, Brazil. This is a retrospective cohort study that evaluated 493 dental charts of individuals with or without tooth injuries at their first dental appointment. The dependent variable was the time of occurrence of new dental traumatic injuries and was measured in months. Gender, age, International Code of Diseases, mother's education, mouth breathing, hyperkinesis, pacifier use, thumb sucking, psychotropic drug use, tooth injuries at the first dental examination, involuntary movements, open bite, having one or more siblings and reports of seizures were the covariates...
March 2018: Brazilian Dental Journal
https://www.readbyqxmd.com/read/29896732/-clinical-phenotypes-and-genetic-study-of-2-cases-with-22q13-deletion-syndrome
#11
Jihang Luo, Di Fang, Wenjuan Qiu, Bing Xiao, Yanjie Fan, Jun Ye, Lianshu Han, Huiwen Zhang, Yongguo Yu, Lili Liang, Xuefan Gu
OBJECTIVE: To determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD). METHODS: Routine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results. RESULTS: Patient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29893491/person-centred-pain-management-for-the-patient-with-acute-abdominal-pain-an-ethnography-informed-by-the-fundamentals-of-care-framework
#12
Therese Avallin, Åsa Muntlin Athlin, Erik Elgaard Sorensen, Alison Kitson, Martin Björck, Eva Jangland
AIMS: To explore and describe the impact of the organizational culture on and the patient-practitioner patterns of actions that contribute to or detract from successful pain management for the patient with acute abdominal pain across the acute care pathway. BACKGROUND: Although pain management is a recognised human right, unmanaged pain continues to cause suffering and prolong hospital care. Unanswered questions about how to successfully manage pain relate to both organizational culture and individual practitioners' performance...
June 12, 2018: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/29891405/long-term-outcomes-in-motor-and-cognitive-impairment-with-acute-encephalopathy
#13
Yuri Matsubara, Hitoshi Osaka, Takanori Yamagata, Ryusuke Ae, Jun Shimizu, Noriko Oguro
BACKGROUND: Acute encephalopathy causes various sequelae, including motor disabilities and intellectual delays. Previous studies reported that cognitive impairments can also occur after acute encephalitis. Although the incidence of acute encephalopathy is high in Japan, there have been few reports on its sequelae. OBJECTIVE: To characterize the neurological outcomes of pediatric patients who sought motor rehabilitation for motor dysfunction after acute encephalopathy...
June 8, 2018: Brain & Development
https://www.readbyqxmd.com/read/29891057/x-linked-ataxias
#14
Ginevra Zanni, Enrico Bertini
X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome. The neurologic features of XLCA include hypotonia, developmental delay, intellectual disability, ataxia, and other cerebellar signs. Normal cognitive development has also been reported. Cerebellar defects may be isolated or associated with other brain malformations or extraneurologic involvement...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29890215/prior-trauma-exposure-and-serious-illness-at-end-of-life-a-national-study-of-children-in-the-us-foster-care-system-from-2005-to-2015
#15
Lisa C Lindley, Elspeth M Slayter
CONTEXT: Children in foster care suffer with serious illness at end of life. However, the relationship between prior trauma exposure and serious illness has received little empirical attention. OBJECTIVES: The objectives were to examine the prevalence and type of trauma exposure, and investigate the relationship between prior trauma and serious illness among foster children at end of life. METHODS: We used national longitudinal foster care data...
June 8, 2018: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/29888144/a-novel-system-to-measure-infants-nutritive-sucking-during-breastfeeding-the-breastfeeding-diagnostic-device-bdd
#16
Longtu Chen, Ruth F Lucas, Bin Feng
Breastfeeding is optimal for infant health, but more than 66% of mothers cease exclusive breastfeeding within three months after giving birth. Evaluating infants' sucking effort provides valuable diagnosis to mothers encountering barriers with breastfeeding. Sucking microstructure is defined as an array of metrics that comprehensively capture infants' ability to create a sealed latch onto mother's nipple and regulate feeding, including number of sucks, sucks per burst, number of bursts, intra suck interval, and maximal sucking pressure...
2018: IEEE Journal of Translational Engineering in Health and Medicine
https://www.readbyqxmd.com/read/29887288/translating-molecular-advances-in-down-syndrome-and-fragile-x-syndrome-into-therapies
#17
REVIEW
Victor Faundez, Ilario De Toma, Barbara Bardoni, Renata Bartesaghi, Dean Nizetic, Rafael de la Torre, Roi Cohen Kadosh, Yann Herault, Mara Dierssen, Marie-Claude Potier
Ongoing treatments for genetic developmental disorders of the central nervous system are mostly symptomatic and do not correct the genetic cause. Recent identification of common mechanisms between diseases has suggested that new therapeutic targets could be applied across intellectual disabilities with potential disease-modifying properties. The European Down syndrome and other genetic developmental disorders (DSG2D) network joined basic and clinical scientists to foster this research and carry out clinical trials...
June 7, 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29886042/prevalence-of-rearrangements-in-the-22q11-2-region-and-population-based-risk-of-neuropsychiatric-and-developmental-disorders-in-a-danish-population-a-case-cohort-study
#18
Line Olsen, Thomas Sparsø, Shantel M Weinsheimer, Marcelo Bertalan Quintanilha Dos Santos, Wiktor Mazin, Anders Rosengren, Xabier Calle Sanchez, Louise K Hoeffding, Henriette Schmock, Marie Baekvad-Hansen, Jonas Bybjerg-Grauholm, Mark J Daly, Benjamin M Neale, Marianne G Pedersen, Esben Agerbo, Ole Mors, Anders Børglum, Merete Nordentoft, David M Hougaard, Preben Bo Mortensen, Daniel H Geschwind, Carsten Pedersen, Wesley K Thompson, Thomas Werge
BACKGROUND: Although the pathogenic nature of copy number variants (CNVs) on chromosome 22q11.2 has been recognised for decades, unbiased estimates of their population prevalence, mortality, disease risks, and diagnostic trajectories are absent. We aimed to provide the true population prevalence of 22q11.2 CNVs and associated trajectory of disease risk and mortality by use of the unbiased, representative Danish iPSYCH population case cohort. METHODS: This case-cohort study was done on a population of 86 189 individuals selected from the iPSYCH case cohort of 1 472 762 singletons born in Denmark between May 1, 1981, and Dec 31, 2005, who have a known mother from the Danish Civil Registration System, were residents in Denmark at 1 year of age, and enrolled in the iPSYCH Initiative...
June 6, 2018: Lancet Psychiatry
https://www.readbyqxmd.com/read/29883200/the-disaster-information-needs-of-families-of-children-with-special-healthcare-needs-a-scoping-review
#19
Thomas J Hipper, Renee Davis, Philip M Massey, Renee M Turchi, Keri M Lubell, Laura E Pechta, Dale A Rose, Amy Wolkin, Lisa Briseño, Jessica L Franks, Esther Chernak
Families with children who have access and mobility challenges, chronic illness, or intellectual or developmental disabilities require targeted messages before, during, and after disasters to ensure that they understand risks to their children's health and can take measures to avoid harm and build resilience. A scoping review was conducted to assess current evidence for optimal ways to address the disaster information needs and communication preferences of families with children and youth with special healthcare needs...
June 8, 2018: Health Security
https://www.readbyqxmd.com/read/29882329/gpt2-mutations-cause-developmental-encephalopathy-with-microcephaly-and-features-of-complicated-hereditary-spastic-paraplegia
#20
H Hengel, R Keimer, W Deigendesch, A Rieß, H Marzouqa, J Zaidan, P Bauer, L Schöls
Various genetic defects can cause intellectual and developmental disabilities (IDD). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive GPT2 mutations have recently been associated with IDD in four families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in five patients from two consanguineous Arab families...
June 7, 2018: Clinical Genetics
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