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Developmental disabilities

Sophie Crux, Jochen Herms, Mario M Dorostkar
Tcf4 is a transcription factor which regulates neurogenesis and neuronal migration in the brain. In humans, loss of function of Tcf4 leads to the rare neurodevelopmental disorder Pitt-Hopkins syndrome, which is characterized by intellectual disability, developmental delay and autistic behavior. We analyzed the consequences of functional loss of Tcf4 on dendritic spines in mature principal neurons. To this end, we crossed mice in which the DNA-binding domain of the Tcf4 gene is flanked by LoxP sites to mice expressing tamoxifen-inducible cre recombinase in a sparse subset of fluorescently labelled neurons (SlickV line)...
2018: PloS One
Tara O'Neill, Janice Light, Lauramarie Pope
Purpose: The purpose of this meta-analysis was to investigate the effects of augmentative and alternative communication (AAC) interventions that included aided AAC input (e.g., aided AAC modeling, aided language modeling, aided language stimulation, augmented input) on communicative outcomes (both comprehension and expression) for individuals with developmental disabilities who use AAC. Method: A systematic search resulted in the identification of 26 single-case experimental designs (88 participants) and 2 group experimental designs (103 participants)...
June 20, 2018: Journal of Speech, Language, and Hearing Research: JSLHR
Kobi Perl, Ron Shamir, Karen B Avraham
BACKGROUND: Hearing loss is a major cause of disability worldwide, impairing communication, health, and quality of life. Emerging methods of gene therapy aim to address this morbidity, which can be employed to fix a genetic problem causing hair cell dysfunction and to promote the proliferation of supporting cells in the cochlea and their transdifferentiation into hair cells. In order to extend the applicability of gene therapy, the scientific community is focusing on discovery of additional deafness genes, identifying new genetic variants associated with hearing loss, and revealing new factors that can be manipulated in a coordinated manner to improve hair cell regeneration...
June 22, 2018: Human Genomics
Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, Renato Borgatti, Gabriela Stangoni, Sandro Elisei, Stefano Mantero, Ciro Menale, Antonella Forlino, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Giorgio R Merlo, Cristina Sobacchi
Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development...
June 18, 2018: Bone
Rachael C Cvejic, Claire Eagleson, Janelle Weise, Kimberley Davies, Malcolm Hopwood, Kym Jenkins, Julian N Trollor
OBJECTIVE: To describe the characteristics of psychiatrists working in the area of intellectual and developmental disability mental health (IDDMH) across Australia and New Zealand. METHODS: A secondary analysis of data collected by the Royal Australian and New Zealand College of Psychiatrists 2014 workforce survey. Characteristics of the IDDMH workforce ( n=146 psychiatrists) were compared with those of the broader psychiatry workforce ( n=1050 psychiatrists). RESULTS: The IDDMH workforce were more likely than the broader psychiatry workforce to be working across both the public and private health sectors, be engaged in outreach work, endorse specialty practice areas pertinent to IDDMH, treat younger patients and work more clinical hours per week...
June 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
Jill C Fodstad, Alexandra Kirsch, Micah Faidley, Nerissa Bauer
Individuals with intellectual and developmental disabilities (IDD) are at a high risk for engaging in self-injurious behavior (SIB). Prognosis is poor when SIB emerges early. Limited research exists on interventions teaching parents how to manage their young child's SIB. This investigation assessed the feasibility of adapting an applied behavior analytic parent training program with 11 parents of children 1-5 years of age with IDD and SIB. Quantitative and observational measures were used to assess outcomes; semi-structured interviews assessed caregiver satisfaction...
June 20, 2018: Journal of Autism and Developmental Disorders
Valentina Zamboni, Rebecca Jones, Alessandro Umbach, Alessandra Ammoni, Maria Passafaro, Emilio Hirsch, Giorgio R Merlo
Rho-class small GTPases are implicated in basic cellular processes at nearly all brain developmental steps, from neurogenesis and migration to axon guidance and synaptic plasticity. GTPases are key signal transducing enzymes that link extracellular cues to the neuronal responses required for the construction of neuronal networks, as well as for synaptic function and plasticity. Rho GTPases are highly regulated by a complex set of activating (GEFs) and inactivating (GAPs) partners, via protein:protein interactions (PPI)...
June 20, 2018: International Journal of Molecular Sciences
Lisa C Lindley, Elspeth M Slayter
BACKGROUND: Of the nearly 500 000 children in foster care, several hundred children die each year. Their quality of life at end of life is a matter of their foster care experience. OBJECTIVES: The purpose of this study was to investigate whether serious illness was associated with foster care placement outcomes. METHODS: US foster care data from 2005 to 2015 were used. Children who were younger than 18 years with residence in the United States were included...
January 1, 2018: American Journal of Hospice & Palliative Care
Anna Durbin, Robert Balogh, Elizabeth Lin, Andrew S Wilton, Yona Lunsky
This population-based cohort study examined the relationship between level of continuity of primary care and subsequent emergency department (ED) visits for adults with (n = 66,484) and without intellectual and developmental disabilities (IDD)(n = 2,760,670). Individuals with IDD were more likely than individuals with no IDD to visit the ED (33.96% versus 20.28%, p < 0.0001). For both groups receiving greater continuity of primary care was associated with less ED use, but this relationship was more marked for adults with IDD...
June 19, 2018: Journal of Autism and Developmental Disorders
Antonio Benítez-Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Maite Fernández-Urquiza, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Ma Salud Jiménez-Romero
The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21...
2018: Frontiers in Pediatrics
E Eisenbaum
BACKGROUND: People with intellectual and developmental disabilities (IDD) have been overlooked in tobacco use research although they are likely to experience tobacco-related health disparities. This study examined tobacco product use and smoking frequency and amount among a sample of US Special Olympics athletes with IDD. METHODS: Multiple regression analysis was used to test whether age, gender, body mass index, blood pressure, bone density, eating fruits and vegetables and family member tobacco use were correlated with the number of cigarettes smoked per day...
June 19, 2018: Journal of Intellectual Disability Research: JIDR
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
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
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
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
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
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
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
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
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
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