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https://www.readbyqxmd.com/read/29036646/de-novo-deleterious-sequence-variants-that-alter-the-transcriptional-activity-of-the-homeoprotein-pbx1-are-associated-with-intellectual-disability-and-pleiotropic-developmental-defects
#1
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads...
September 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29036626/detection-of-an-underlying-22q11-2-duplication-in-a-female-neonate-with-trisomy-18
#2
Donald E Turbiville, Hai Wu, Jianli Dong
Current guidelines indicate that in patients with developmental disabilities or congenital anomalies, chromosomal microarray (CMA) is a first-tier diagnostic test. However, for patients with obvious chromosomal syndromes such as trisomy 13, 18, and 21, G-banded karyotyping is still recommended over CMA for establishing a diagnosis. In the case presented herein, a female neonate was suspected of having trisomy 18 based on pre- and postnatal evaluations. Karyotyping was requested but not performed due to insufficient cell growth; Interphase fluorescence in situ hybridization (i-FISH) found an extra copy of chromosome 18...
September 23, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29032286/difference-or-delay-a-comparison-of-bayley-iii-cognition-item-scores-of-young-children-with-and-without-developmental-disabilities
#3
Linda Visser, Carla Vlaskamp, Cornelius Emde, Selma A J Ruiter, Marieke E Timmerman
The "difference or delay paradigm" focuses on the question of whether children with developmental disabilities (DD) develop in a way that is only delayed, compared to typically developing children, or also qualitatively different. The current study aimed to examine whether qualitative differences exist in cognitive development of young children with and without DD on the basis of item scores on the Dutch Bayley-III Cognition scale. Differential item functioning was identified for 15 of the 91 items. The presence of DD was related to a higher number of Guttman errors, hinting at more deviation in the order of skill development...
October 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29030024/neurodevelopmental-outcomes-at-3-years-old-for-infants-with-birth-weights-under-500%C3%A2-g
#4
Syunsuke Nagara, Masanori Kouwaki, Takao Togawa, Tokio Sugiura, Mayumi Okada, Norihisa Koyama
BACKGROUND: Marked improvements have been achieved in the survival of extremely low birth weight infants, but survival rates and prognoses of extremely small infants with birth weights ≤500 g remain poor. The aim of this study was to clarify long-term outcomes for surviving infants with birth weights ≤500 g. METHODS: The study population comprised fetuses of gestational age ≥22 weeks, expected live- or stillbirth weight ≤500 g, and birth date between 2003 and 2012...
September 21, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29027294/classification-of-self-injurious-behaviour-across-the-continuum-of-relative-environmental-biological-influence
#5
L P Hagopian, M A Frank-Crawford
Self-injurious behaviour (SIB) is generally considered to be the product of interactions between dysfunction stemming from the primary developmental disability and experiences that occasion and reinforce SIB. As a result of these complex interactions, SIB presents as a heterogeneous problem. Recent research delineating subtypes of SIB that are nonsocially mediated, including one that is amenable to change and one that is highly invariant, enables classification of SIB across a broader continuum of relative environmental-biological influence...
October 13, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29026562/developmental-progression-of-intellectual-disability-autism-and-epilepsy-in-a-child-with-an-iqsec2-gene-mutation
#6
Rachelle Zipper, Sherri D Baine, Jacob Genizi, Hen Maoz, Nina S Levy, Andrew P Levy
The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome
#7
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024219/the-determinants-of-service-complexity-in-children-with-intellectual-disabilities
#8
S L Stewart, K Falah Hassani, J Poss, J Hirdes
BACKGROUND: To date, little is known about the predictors of healthcare service utilisation in children with intellectual disability (ID). The aim of this study was to identify the factors associated with service complexity in children with ID in Ontario, Canada. METHODS: The population of this cross-sectional study consisted of 330 children with ID ages 4 to 18 years who accessed mental health services from November of 2012 to June of 2016 in four agencies. All participants completed the interRAI Child and Youth Mental Health and Developmental Disability Assessment Instrument, which is a semi-structured clinician-rated assessment that covers a range of common issues in children with ID...
November 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29021945/an-evaluation-of-instructive-feedback-to-teach-play-behavior-to-a-child-with-autism-spectrum-disorder
#9
Laura L Grow, Tiffany Kodak, Andrea Clements
Instructive feedback is used to expose learners to secondary targets during skill acquisition programs (Reichow & Wolery, in Journal of Applied Behavior Analysis, 44, 327-340, 2011; Werts, Wolery, Gast, & Holcombe, in Journal of Behavioral Education, 5, 55-75, 1995). Although unrelated feedback may have clinical utility in practice, very little research has evaluated unrelated instructive feedback, particularly for promoting play behavior (Colozzi, Ward, & Crotty, in Education and Training in Developmental Disabilities, 43, 226-248, 2008)...
September 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/29021936/utilizing-peak-relational-training-system-to-teach-visual-gustatory-and-auditory-relations-to-adults-with-developmental-disabilities
#10
Autumn McKeel, Jaime Matas
Two multiple baseline designs were conducted across participants to determine if the promoting the emergence of advanced knowledge (PEAK) equivalence module was an effective tool in teaching adults with autism relationships between stimuli. More specifically, a transitivity program utilizing the gustatory sensory modality was implemented. Stimuli were selected and probed initially preceding the training. First, gustatory stimuli to a visual picture were trained. Then, a visual picture to a spoken word was trained...
September 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/29021403/heterozygous-mutations-affecting-the-protein-kinase-domain-of-cdk13-cause-a-syndromic-form-of-developmental-delay-and-intellectual-disability
#11
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations. METHODS: Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause. RESULTS: Our cohort comprised 16 individuals aged 4-16 years. All had developmental delay, including six with autism spectrum disorder...
October 11, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29020791/parents-and-young-adults-perspectives-on-transition-outcomes-for-young-adults-with-autism
#12
Collette Sosnowy, Chloe Silverman, Paul Shattuck
Existing research shows that young adults with autism spectrum disorder have poorer outcomes than their peers with other developmental disabilities in the key areas of independent living, postsecondary education, and employment. However, we understand little about how young adults with autism and their families understand and value outcomes and whether these indicators match their goals and aspirations. We interviewed parents (n = 21) and young adults with autism spectrum disorder (n = 20) about their experiences with the transition to adulthood to understand what they consider to be desirable outcomes and how they seek to achieve them...
October 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29020723/chromosomal-microarray-testing-in-42-korean-patients-with-unexplained-developmental-delay-intellectual-disability-autism-spectrum-disorders-and-multiple-congenital-anomalies
#13
Sun Ho Lee, Wung Joo Song
Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients...
September 2017: Genomics & Informatics
https://www.readbyqxmd.com/read/29019630/prolonged-hospital-discharge-for-children-with-technology-dependency-a-source-of-health-care-disparities
#14
Sarah A Sobotka, Rishi K Agrawal, Michael E Msall
Children with ventilator assistance have been supported in living at home since 1981 when parental advocacy ushered in a change to Medicaid policy. As the population of children who use medical technology such as long-term ventilation increases, we must critically evaluate our systems for preparing families for home life. Discharge delays persist in the modern era because of fragmentation between hospital and home systems. These discharge delays result in children spending time in less developmentally rich environments, further exacerbating the health and development disparities of children with complex disabilities...
October 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29019379/special-smiles-sports-dentistry-and-the-special-needs-athlete
#15
EDITORIAL
H Barry Waldman, Steven P Perlman, Luc Marks, Thaddeus J Arnold
There is a need to expand dental services to underserved populations, such as athletes with intellectual and developmental disabilities. This review introduces dentists to this need by sharing the direction taken by the Special Smiles program of Special Olympics and addressing the need to educate special needs athletes on prevention and care of sports-related mouth injuries.
June 22, 2017: Journal of the California Dental Association
https://www.readbyqxmd.com/read/29019169/one-back-reinforcement-dissociates-implicit-procedural-and-explicit-declarative-category-learning
#16
J David Smith, Sonia Jamani, Joseph Boomer, Barbara A Church
The debate over unitary/multiple category-learning utilities is reminiscent of debates about multiple memory systems and unitary/dual codes in knowledge representation. In categorization, researchers continue to seek paradigms to dissociate explicit learning processes (yielding verbalizable rules) from implicit learning processes (yielding stimulus-response associations that remain outside awareness). We introduce a new dissociation here. Participants learned matched category tasks with a multidimensional, information-integration solution or a one-dimensional, rule-based solution...
October 10, 2017: Memory & Cognition
https://www.readbyqxmd.com/read/29018592/insights-in-public-health-project-laulima-expanding-hawai-i-s-system-of-care-to-better-serve-children-and-youth-with-co-occurring-mental-health-needs-and-intellectual-developmental-disabilities-and-their-families
#17
Pratima Kumar Musburger, Lesley Slavin
No abstract text is available yet for this article.
October 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#18
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29016847/a-point-mutation-in-the-ion-conduction-pore-of-ampa-receptor-gria3-causes-dramatically-perturbed-sleep-patterns-as-well-as-intellectual-disability
#19
Benjamin Davies, Laurence A Brown, Ondrej Cais, Jake Watson, Amber J Clayton, Veronica T Chang, Daniel Biggs, Christopher Preece, Polinka Hernandez-Pliego, Jon Krohn, Amarjit Bhomra, Stephen R F Twigg, Andrew Rimmer, Alexander Kanapin, Arjune Sen, Zenobia Zaiwalla, Gil McVean, Russell Foster, Peter Donnelly, Jenny C Taylor, Edward Blair, David Nutt, A Radu Aricescu, Ingo H Greger, Stuart N Peirson, Jonathan Flint, Hilary C Martin
The discovery of genetic variants influencing sleep patterns can shed light on the physiological processes underlying sleep. As part of a large clinical sequencing project, WGS500, we sequenced a family in which the two male children had severe developmental delay and a dramatically disturbed sleep-wake cycle, with very long wake and sleep durations, reaching up to 106-h awake and 48-h asleep. The most likely causal variant identified was a novel missense variant in the X-linked GRIA3 gene, which has been implicated in intellectual disability...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28992512/predictors-of-having-a-first-child-taken-into-care-at-birth-a-population-based-retrospective-cohort-study
#20
Elizabeth Wall-Wieler, Leslie L Roos, Marni Brownell, Nathan C Nickel, Dan Chateau
The objective of this study is to determine which maternal events and diagnoses in the two years before childbirth are associated with higher risk for having a first child taken into care at birth by child protection services. A population-based retrospective cohort of women whose first child was born in Manitoba, Canada between 2002 and 2012 and lived in the province at least two years before the birth of their first child (n=53,565) was created using linkable administrative data. A logistic regression model determined the adjusted odds ratios (AOR) of having a child taken into care at birth...
October 5, 2017: Child Abuse & Neglect
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