Carl V Tyler, Michael D Wells
Health systems often fail to tap the expertise of the developmental disabilities community support and service system. In this 9-month pilot health system-level quality improvement project, a multi-disciplinary team of physician, pharmacist, and disabilities advocate reviewed electronic records of patients with Down syndrome in advance of pre-scheduled appointments with their primary care physician (PCP) and generated 100 electronic consultations. Post-consultation chart review documented meaningful uptake of clinical recommendations, including screening for thyroid disease, celiac disease, and heart disease, pneumococcal vaccination, and screening physical examination for myelopathy...
June 1, 2021: Intellectual and Developmental Disabilities
Samantha Gross Toews, Russell Johnston, Jennifer A Kurth, Andrea L Ruppar, Jessica A McQueston, Katie M McCabe
Trends in the supplementary aids and services (SAS) written in individualized education programs (IEPs) for students with significant disabilities (a) in different educational placements, (b) with and without behavior support plans (BSP), and (c) with and without complex communication needs (CCN) are examined using multivariate analysis of variance. Results show no significant differences in SAS for students across separate, resource, and inclusive placements. Students with BSPs had significantly more collaborative and behavior SAS than those without BSPs...
June 1, 2021: Intellectual and Developmental Disabilities
Katherine E Johnson, Caitlin E Bailey, Nancy R Weiss, Steven M Eidelman
The Direct Support Professional (DSP) workforce has experienced a multidecade period of disinvestment in the field leading to DSPs being in high demand, while efforts to recruit, train, and retain these professionals pose challenges. To gain a better understanding of the needs of DSPs themselves, 440 survey responses and 24 interviews of DSPs were analyzed to understand what would help DSPs do their jobs better and ensure they feel more supported by their agencies. Results revealed six distinct support needs: (a) ensure quality participatory management practices, (b) provide fair compensation and recognition, (c) enhance access to training opportunities, (d) assure reliable and quality staffing, (e) adequately fund basic needs of both programs and people receiving support, and (f) maintain reasonable job expectations...
June 1, 2021: Intellectual and Developmental Disabilities
Jill M Crane, Heather J Williamson, Sheida K Raley, Mayumi Hagiwara, Chung Eun Lee, Susan M Havercamp
The American Association on Intellectual and Developmental Disabilities (AAIDD) has been a leader in the field of intellectual and developmental disabilities since its founding in 1876. Today, student and early career professionals make up approximately 8.5% of the organization, with their engagement supported by the Student and Early Career Professional Interest Network (SECP). An article by Havercamp et al. (2003), "Who Will Lead the Field Beyond 2020?", recommended organizational changes that have been largely addressed in the years following by SECP...
June 1, 2021: Intellectual and Developmental Disabilities
Iva Obrusnikova, Albert R Cavalier, Haley M Novak, Ashleigh E Blair-McKinsey, Rick R Suminski
Adults with intellectual disability (ID) have significantly lower levels of fitness compared to the general population. The study examined the effects of a multicomponent familiarization intervention, consisting of a visual activity schedule and a video-enhanced system of least-to-most prompting, both displayed via an iPad, on the acquisition of resistance-training exercise tasks by adults with ID, aged 18-44 years, in a community fitness center. Twelve participants were randomly allocated to an experimental group (EG) and 12 to an active control group (CG)...
June 1, 2021: Intellectual and Developmental Disabilities
Jacqueline Williams, Ian Fuelscher, Christian Hyde
BACKGROUND: Motor imagery (MI) training may benefit children with congenital hemiplegia, but reports on MI ability are mixed. This study considered individual patterns of performance to better understand MI ability in children with hemiplegia. METHOD: Twenty children with hemiplegia (7-13 years; 10 with right hemiplegia), completed a MI task, IQ estimate and functional tests. Children with hemiplegia scoring above chance on the MI task were compared to a group of age-matched peers...
May 21, 2021: Research in Developmental Disabilities
Lainie F Ross
No abstract text is available yet for this article.
May 21, 2021: Journal of Pediatrics
Grace T Clark, Christina Reuterskiöld
Purpose A systematic review was performed to determine the extent to which orthographic facilitation, a strategy to improve word learning, has been demonstrated in the literature for children and adolescents from clinical categories such as developmental language disorders (DLD), autism spectrum disorders (ASD), Down syndrome, dyslexia, hearing impairment, intellectual disability, and cerebral palsy. Method Five databases were searched for all studies published through December 2019. Eligible studies included participants from a clinical population (DLD, ASD, dyslexia, cerebral palsy, Down syndrome, hearing impairment, etc...
May 24, 2021: Language, Speech, and Hearing Services in Schools
Felicia Mermer, Sarah Poliquin, Kathryn Rigsby, Anuj Rastogi, Wangzhen Shen, Alejandra Romero-Morales, Gerald Nwosu, Patrick McGrath, Scott Demerast, Jason Aoto, Ganna Bilousova, Dennis Lal, Vivian Gama, Jing-Qiong Kang
Solute carrier family 6 member 1 (SLC6A1) is abundantly expressed in the developing brain even before the central nervous system is formed. Its encoded GABA transporter 1 is responsible for the reuptake of GABA into presynaptic neurons and glia, thereby modulating neurotransmission. GABA transporter 1 is expressed globally in the brain, in both astrocytes and neurons. The GABA uptake function of GABA transporter 1 in neurons cannot be compensated for by other GABA transporters, while the function in glia can be partially replaced by GABA transporter 3...
May 24, 2021: Brain
Janelle C Weise, Preeyaporn Srasuebkul, Julian N Trollor
OBJECTIVE: To determine rates of potentially preventable hospitalisation of people with intellectual disability in New South Wales, and compare them with those for the NSW population. DESIGN: Retrospective cohort study. SETTING: Potentially preventable hospitalisations in NSW, as defined by the National Healthcare Agreement progress indicator 18, 1 July 2001 - 30 June 2015. PARTICIPANTS: Data collected in a retrospective data linkage study of 92 542 people with intellectual disability in NSW; potentially preventable hospitalisations data for NSW published by HealthStats NSW...
May 24, 2021: Medical Journal of Australia
Stacy Davenport, Tara Rava Zolnikov
BACKGROUND: Parenting a child diagnosed with intellectual disability includes a variety of stressors. The degree to which stress affects these parents has been given little emphasis. Compassion fatigue includes experiencing an emotional response to being unable to relieve the suffering of a loved one, burnout, strain and stress on the caregiver. Compassion fatigue develops in parents of children diagnosed with intellectual disability due to their caregiving roles. METHOD: A phenomenological qualitative study was conducted using 25 semi-structured interviews to understand the mental health outcomes of parents caring for a child diagnosed with intellectual disability...
May 24, 2021: Journal of Intellectual Disabilities: JOID
Feifan Xiao, Xiuyun Liu, Yulan Lu, Bingbing Wu, Renchao Liu, Bo Liu, Kai Yan, Huiyao Chen, Guoqiang Cheng, Laishuan Wang, Qi Ni, Gang Li, Ping Zhang, Xiaomin Peng, Yun Cao, Chun Shen, Huijun Wang, Wenhao Zhou
The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth. However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study retrospectively analyzed the next-generation sequencing (NGS) data of individuals from January 2016 to June 2020 for 17q12 duplication. To identify the function of the key gene of HNF1B in the 17q12 duplication region, human HNF1B mRNA was microinjected into LiPan zebrafish transgenic embryos...
2021: Frontiers in Genetics
Miriam Kessi, Fangling Yan, Langui Pan, Baiyu Chen, Eleonore Olatoutou, Dong Li, Fang He, Tibera Rugambwa, Lifen Yang, Jing Peng, Fei Yin
Background and Purpose: To date, there is no specific treatment guideline for the benign childhood epilepsy with centrotemporal spikes (BECTS). Several countries recommend levetiracetam, carbamazepine, sodium valproate, oxcarbazepine, and lamotrigine as first-line drugs. Nevertheless, some of these drugs are associated with cognitive decline. Available studies that investigated the efficacy of levetiracetam and sodium valproate on BECTS involved small sample sizes. This study aimed to evaluate the efficacy of levetiracetam and sodium valproate on cognition, and to investigate the prognostic factors for BECTS as whole...
2021: Frontiers in Neurology
Cristan Farmer, Audrey Thurm
Although individuals with intellectual disability (ID) and/or limited language ability make up a significant proportion of those with autism spectrum disorder (ASD), they are routinely excluded from ASD research. As a result, this vulnerable population is prevented from participating in and deriving full benefit from research. In this commentary, we expand upon points made by McCracken and colleagues (this issue), who describe several opportunities for improvement in drug development for ASD related to the inclusion of individuals with ID and/or limited language ability...
May 19, 2021: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
Hossein Jafari Khamirani, Sina Zoghi, Fatemeh Faghihi, Seyed Alireza Dastgheib, Hamidreza Hassanipour, Seyed Mohammad Bagher Tabei, Sanaz Mohammadi, Marjan Masoudi, Shiva Poorang, Elham Ehsani, Mehdi Dianatpour
ST3GAL3 deficiency is an extremely rare autosomal recessive disorder caused by pathogenic mutations in the ST3GAL3 gene. Epilepsy, motor development delay, severe intellectual disability, and behavioral disorders have been reported to be associated with ST3GAL3 deficiency. In the present study, ST3GAL3 deficiency was caused by a homozygous splice-site mutation (NM_174964.4: c.936+1delG) in ST3GAL3. The patient described in this study was clinically similar to previously reported cases; nevertheless, we were able to detect repetitive behavior, previously not reported manifestations...
May 19, 2021: European Journal of Medical Genetics
Hitoshi Higuchi, Kumiko Takaya-Ishida, Saki Miyake, Maki Fujimoto, Yukiko Nishioka, Shigeru Maeda, Takuya Miyawaki
PURPOSE: In anesthetic management, it is widely accepted that obese patients are more likely to suffer airway obstructions and reductions in arterial oxygen saturation (SpO2 ). Therefore, it is important to take special measures to prevent oxygen desaturation during the deep sedation of obese patients. This clinical study examined whether the use of nasal high-flow systems (NHFS) keep higher SpO2 and reduced hypoxemia than conventional nasal cannula during the deep sedation of obese patients with intellectual disabilities for dental treatment...
April 14, 2021: Journal of Oral and Maxillofacial Surgery
Madison Garrity, Haluk Kavus, Marta RojasVasquez, Irene Valenzuela, Austin Larson, Sara Reed, Gary Bellus, Cyril Mignot, Arnold Munnich, Bertrand Isidor, Wendy K Chung
BACKGROUND: De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1) that encodes kinetochore-microtubule associated protein on 13q34 cause a rare neurodevelopmental disorder. METHODS: We enrolled 14 individuals with pathogenic variants in CHAMP1 that were documented by exome sequencing or gene panel sequencing. Medical history interviews, seizure surveys, Vineland Adapted Behavior Scales Second Edition, and other behavioral surveys were completed by primary care givers of available participants in Simons Searchlight...
May 21, 2021: Cold Spring Harbor Molecular Case Studies
Ilaria Mannucci, Nghi D P Dang, Hannes Huber, Jaclyn B Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A Bindoff, Geir Julius Braathen, Øyvind L Busk, Jirat Chenbhanich, Jonas Denecke, Luis F Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W Ljungblad, Leslie Manace Brenman, Julian A Martinez-Agosto, Matthew Might, David T Miller, Kelly Q Minks, Billur Moghaddam, Caroline Nava, Stanley F Nelson, John M Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F Reiter, Janneke Schuurs-Hoeijmakers, Perry B Shieh, Anne Slavotinek, Sarah Smithson, Alexander P A Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
BACKGROUND: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. METHODS: Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish...
May 21, 2021: Genome Medicine
Elizabeth McAdams Ducy, Laura M Stough
The psychological effects of disasters on children with disabilities are understudied, despite evidence towards increased risk for complications after other types of trauma exposure. This study investigated the experience of children and youth with disabilities exposed to the 2017 Northern California wildfires, with a particular focus on psychological reactions. In-depth interviews were conducted with parents of 14 children and youth with disabilities one year post-disaster. Thematic analysis was used to analyze the interviews...
May 18, 2021: Research in Developmental Disabilities
Christoph M Müller, Antonius H N Cillessen, Sara Egger, Verena Hofmann
BACKGROUND: Students with intellectual disabilities (ID) exhibit increased rates of problem behaviors compared to those without ID. AIMS: Given the evidence of peer influence in typical development, we examined the impact of classmates' characteristics on problem behaviors of students with ID. We expected higher levels of problem behaviors in special needs classrooms will influence individual development of such behaviors. METHODS: A longitudinal design with measurements at the beginning and the end of a school year was applied...
May 18, 2021: Research in Developmental Disabilities
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