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https://www.readbyqxmd.com/read/28430014/pediatric-oral-motor-feeding-assessments-a-systematic-review
#1
C Barton, M Bickell, S Fucile
AIM: To describe the clinical properties and psychometric soundness of pediatric oral motor feeding assessments. METHODS: A systematic search was conducted using Medline, CINAHL, EMBASE, PsycInfo, and HAPI databases. Assessments were analyzed for their clinical and psychometric characteristics. RESULTS: 12 assessment tools were identified to meet the inclusion/exclusion criteria. Clinical properties varied from assessments evaluating oral-motor deficits, screening to identify feeding problems, and monitoring feeding progress...
April 21, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28425213/genotype-phenotype-correlations-in-cornelia-de-lange-syndrome-behavioral-characteristics-and-changes-with-age
#2
Joanna Moss, Jessica Penhallow, Morad Ansari, Stephanie Barton, David Bourn, David R FitzPatrick, Judith Goodship, Peter Hammond, Catherine Roberts, Alice Welham, Chris Oliver
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There is substantial heterogeneity in all aspects of CdLS but very little is known about what predicts phenotypic heterogeneity...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424567/access-barriers-to-services-by-immigrant-mothers-of-children-with-autism-in-canada
#3
Nazilla Khanlou, Nasim Haque, Nida Mustafa, Luz Maria Vazquez, Anne Mantini, Jonathan Weiss
Equal access for autism services remains suboptimal for diverse groups. In Canada, little is known about the barriers immigrant mothers face accessing services and support for their children with developmental disabilities. In this qualitative study, 21 immigrant mothers of children with Autism, from a diverse ethno cultural background, were interviewed in Toronto, Canada. We apply House's (1981) four domains of social support to analyze findings. Structural support challenges, such as delays in diagnosis, fragmented and dispersed services were common, followed by instrumental challenges due to loss of social ties and stigma...
2017: International Journal of Mental Health and Addiction
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#4
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28422626/navigating-the-hidden-curriculum-of-higher-education-for-postsecondary-students-with-intellectual-disabilities
#5
Lucretia A Berg, Tracy Jirikowic, Katie Haerling, Ginger MacDonald
Students with intellectual and/or developmental disabilities (IDD) increasingly pursue postsecondary education (PSE). Navigating the hidden curriculum-including meeting prerequisites for PSE and employment, using support systems and community transportation, and carrying out adulthood expectations-is an area of challenge. This exploratory case study examined experiences of students with IDD attending a PSE program and stakeholder perspectives. Thirty-two participants (10 students with IDD, 5 parents or guardians, 4 college administrators, 8 college instructors, 4 occupational therapists, and a transition specialist) were interviewed...
May 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/28422131/variants-in-cplx1-in-two-families-with-autosomal-recessive-severe-infantile-myoclonic-epilepsy-and-id
#6
Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421702/de-novo-variants-associated-with-developmental-disability-exome-sequencing-data-findings-implicate-new-genes-as-potential-sources-of-de-novo-mutations
#7
(no author information available yet)
No abstract text is available yet for this article.
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28420593/sexual-health-in-the-community-services-for-people-with-intellectual-and-developmental-disabilities
#8
Carli Friedman, Aleksa L Owen
BACKGROUND: Sexuality is a central dimension of overall health and well-being. People with intellectual and developmental disabilities (IDD) continue to experience disparities in healthcare, particularly regarding access to sexual health related services. Medicaid Home and Community-Based Services (HCBS) waivers are ideally situated to provide sexual and reproductive healthcare in accessible settings. OBJECTIVE: This preliminary study analyzed national Medicaid HCBS waivers to determine how they provide sexuality services for people with IDD...
April 6, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28417440/developmental-neurotoxicity-of-traffic-related-air-pollution-focus-on-autism
#9
REVIEW
Lucio G Costa, Yu-Chi Chang, Toby B Cole
PURPOSE OF REVIEW: Epidemiological and animal studies suggest that air pollution may negatively affect the central nervous system (CNS) and contribute to CNS diseases. Traffic-related air pollution is a major contributor to global air pollution, and diesel exhaust (DE) is its most important component. RECENT FINDINGS: Several studies suggest that young individuals may be particularly susceptible to air pollution-induced neurotoxicity and that perinatal exposure may cause or contribute to developmental disabilities and behavioral abnormalities...
April 17, 2017: Current Environmental Health Reports
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#10
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#11
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1)...
2017: PloS One
https://www.readbyqxmd.com/read/28413424/environmental-factors-influencing-the-risk-of-autism
#12
REVIEW
Padideh Karimi, Elahe Kamali, Seyyed Mohammad Mousavi, Mojgan Karahmadi
Autism is a developmental disability with age of onset in childhood (under 3 years old), which is characterized by definite impairments in social interactions, abnormalities in speech, and stereotyped pattern of behaviors. Due to the progress of autism in recent decades, a wide range of studies have been done to identify the etiological factors of autism. It has been found that genetic and environmental factors are both involved in autism pathogenesis. Hence, in this review article, a set of environmental factors involved in the occurrence of autism has been collected, and finally, some practical recommendations for reduction of the risk of this devastating disease in children are represented...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28413209/duplication-17p11-2-potocki-lupski-syndrome-in-a-child-with-developmental-delay
#13
S Shuib, N N Saaid, Z Zakaria, J Ismail, Z Abdul Latiff
Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28412577/describing-heterogeneity-of-unmet-needs-among-adults-with-a-developmental-disability-an-examination-of-the-2012-canadian-survey-on-disability
#14
Jennifer Zwicker, Arezou Zaresani, J C Herb Emery
BACKGROUND: As a signatory to the UN Convention on the Rights of Persons with Disabilities, Canada has committed to protect the rights and dignity of persons with developmental disabilities (DD), which means that labour markets, education, and training opportunities should be inclusive and accessible. PURPOSE: Describe the unmet employment, education and daily needs of adults with DD, with a sub analysis of persons with autism spectrum disorder (ASD) and cerebral palsy (CP) in Canada, to inform efficient and equitable policy development...
April 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28412374/a-novel-mitochondrial-atp6-frameshift-mutation-causing-isolated-complex-v-deficiency-ataxia-and-encephalomyopathy
#15
Christopher Benjamin Jackson, Dagmar Hahn, Barbara Schröter, Uwe Richter, Brendan Battersby, Thomas Schmitt-Mechelke, Paula Martinen, Jean-Marc Nuoffer, André Schaller
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells. Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency...
April 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28410256/parent-reported-severity-and-health-educational-services-use-among-us-children-with-autism-results-from-a-national-survey
#16
Katharine E Zuckerman, Nora D B Friedman, Alison E Chavez, Amy M Shui, Karen A Kuhlthau
OBJECTIVE: Little national data exist regarding service use patterns for children with autism spectrum disorder (ASD) of varying severity. This study aimed to assess the relationship between parent-reported severity and use of educational and health care services. METHODS: Data from the 2011 Survey of Pathways to Diagnosis and Services were used to examine a nationally representative sample of 1420 US children aged 6 to 17 years with ASD, with or without developmental delay and intellectual disability...
April 12, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28408725/screening-for-developmental-delay-in-preschool-aged-children-using-parent-completed-ages-and-stages-questionnaires-additional-insights-into-child-development
#17
Soheir S Abo El Elella, Maha A M Tawfik, Wafaa Moustafa M Abo El Fotoh, Naglaa Fathy Barseem
BACKGROUND: Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. OBJECTIVES: Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors...
April 13, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28408099/the-sexuality-of-young-women-with-intellectual-and-developmental-disabilities-a-neglected-focus-in-the-american-foster-care-system
#18
Michelle S Ballan, Molly Burke Freyer
Youths with intellectual and developmental disabilities (ID/DD) are overrepresented in the American foster care system and experience heightened rates of pregnancy compared to their nondisabled peers. Yet limited information is known about sexually active or pregnant young women with ID/DD in foster care. Consequently, important healthcare needs of this population are not adequately addressed. This article explores sexuality education and sexual healthcare for female adolescents in foster care with ID/DD and recommends practice guidelines to support and prepare their emergent sexual development...
April 6, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28407535/exploring-parental-behavior-and-child-interactive-engagement-a-study-on-children-with-a-significant-cognitive-and-motor-developmental-delay
#19
Ines Van Keer, Stephy Colla, Karla Van Leeuwen, Carla Vlaskamp, Eva Ceulemans, Karel Hoppenbrouwers, Annemie Desoete, Bea Maes
BACKGROUND AND AIMS: Parenting factors are one of the most striking gaps in the current scientific literature on the development of young children with significant cognitive and motor disabilities. We aim to explore the characteristics of, and the association between, parental behavior and children's interactive engagement within this target group. METHODS AND PROCEDURES: Twenty-five parent-child dyads (with children aged 6-59 months) were video-taped during a 15-min unstructured play situation...
April 10, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28407444/familial-18q12-2-deletion-supports-the-role-of-rna-binding-protein-celf4-in-autism-spectrum-disorders
#20
Rita Barone, Marco Fichera, Mariaclara De Grandi, Marta Battaglia, Valeria Lo Faro, Teresa Mattina, Renata Rizzo
Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty-two patients have been described with overlapping neurobehavioral disturbances including developmental delay, intellectual disability of variable degree, seizures, motor coordination disorder, behavioral/emotional disturbances, and autism spectrum disorders. The CUGBP Elav-like family member 4 (CELF4) gene at 18q12.2 encodes a RNA-binding protein that links to RNA subsets involved in pre- and postsynaptic neurotransmission including almost 30% of potential autism-related genes...
April 13, 2017: American Journal of Medical Genetics. Part A
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