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intellectual disability and dysphagia

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https://www.readbyqxmd.com/read/27759943/subclinical-dysphagia-in-persons-with-prader-willi-syndrome
#1
Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27642052/dental-treatment-of-a-patient-with-opitz-g-bbb-syndrome
#2
Élcio Magdalena Giovani, Kelly Cristine Tarquinio Marinho, Ruth Andia-Merlin
Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism, craniofacial deformities, and dysphagia. This study reports the clinical features of Optiz syndrome and its importance in the knowledge of patients who are developmentally challenged as a whole, in order to establish adequate dental treatment for a certain clinical case. A 19-year-old patient visited the Paulista University for a dental treatment. The extraoral examination revealed ocular hypertelorism (wide-spaced eyes), oblique eyelids, epicanthus, low-set cart, and intellectual disability...
September 19, 2016: Special Care in Dentistry
https://www.readbyqxmd.com/read/27489075/mortality-in-people-with-intellectual-disabilities-in-england
#3
G Glover, R Williams, P Heslop, J Oyinola, J Grey
BACKGROUND: People with intellectual disabilities (IDs) die at younger ages than the general population, but nationally representative and internationally comparable mortality data about people with ID, quantifying the extent and pattern of the excess, have not previously been reported for England. METHOD: We used data from the Clinical Practice Research Datalink database for April 2010 to March 2014 (CPRD GOLD September 2015). This source covered several hundred participating general practices comprising roughly 5% of the population of England in the period studied...
August 2, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27228900/physical-health-issues-in-adults-with-severe-or-profound-intellectual-and-motor-disabilities-a-systematic-review-of-cross-sectional-studies
#4
E A van Timmeren, C P van der Schans, A A J van der Putten, W P Krijnen, H A Steenbergen, H M J van Schrojenstein Lantman-de Valk, A Waninge
BACKGROUND: People with severe or profound intellectual and motor disabilities (SPIMD) encounter several risk factors associated with higher mortality rates. They are also likely to experience a cluster of health problems related to the severe brain damage/dysfunction. In order to earlier detect physical health problems in people with SPIMD, first of all, knowledge regarding the prevalence of physical health problems is necessary. The aim of this systematic review was to methodically review cross-sectional studies on the prevalence of various types of physical health problems in adults with SPIMD...
May 26, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27151206/kcnk9-imprinting-syndrome-further-delineation-of-a-possible-treatable-disorder
#5
John M Graham, Neda Zadeh, Melissa Kelley, Ee Shien Tan, Wendy Liew, Victoria Tan, Matthew A Deardorff, Golder N Wilson, Lena Sagi-Dain, Stavit A Shalev
Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. This disorder maps to chromosomal region 8q24, and it is caused by a specific missense mutation 770G>A in exon 2, replacing glycine at position 236 by arginine (G236R) in the maternal copy of KCNK9 within this locus...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26382626/clinical-usefulness-of-serum-krebs-von-den-lungen-6-for-detecting-chronic-aspiration-in-children-with-severe-motor-and-intellectual-disabilities
#6
Hiroyuki Wakamoto, Nozomi Sano, Yoshiaki Yano, Shinya Sakai, Takanori Kikuchi, Mitsumasa Fukuda, Takehiko Morimoto, Eiichi Ishii
OBJECTIVE: To determine whether the serum level of Krebs von den Lungen-6 (KL-6), a circulating high-molecular weight glycoprotein and a diagnostic biomarker of interstitial lung diseases, is a clinically useful biomarker for detecting chronic aspiration in children with severe motor and intellectual disabilities (SMIDS). STUDY DESIGN: Children with SMIDS undergoing videofluorography for assessment of dysphagia were prospectively evaluated. Based on the videofluorography results, the participants were classified into aspiration and non-aspiration groups...
November 2015: Journal of Pediatrics
https://www.readbyqxmd.com/read/26164757/deletion-of-11q12-3-11q13-1-in-a-patient-with-intellectual-disability-and-childhood-facial-features-resembling-cornelia-de-lange-syndrome
#7
Martine Isabel Boyle, Cathrine Jespersgaard, Lusine Nazaryan, Kirstine Ravn, Karen Brøndum-Nielsen, Anne-Marie Bisgaard, Zeynep Tümer
Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1...
November 1, 2015: Gene
https://www.readbyqxmd.com/read/25363017/the-incidence-of-healthcare-use-ill-health-and-mortality-in-adults-with-intellectual-disabilities-and-mealtime-support-needs
#8
C M Perez, S L Ball, A P Wagner, I C H Clare, A J Holland, M Redley
BACKGROUND: Adults with intellectual disabilities (ID) experience a wide range of eating, drinking and/or swallowing (EDS) problems, for which they receive diverse mealtime support interventions. Previous research has estimated that dysphagia (difficulty swallowing) affects 8% of all adults with ID and that 15% require some form of mealtime support. People with ID (whether they require mealtime support or not) also experience a greater burden of ill health and die younger than their peers in the general population with no ID...
July 2015: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/25152456/mutations-in-grhl2-result-in-an-autosomal-recessive-ectodermal-dysplasia-syndrome
#9
Gabriela Petrof, Arti Nanda, Jake Howden, Takuya Takeichi, James R McMillan, Sophia Aristodemou, Linda Ozoemena, Lu Liu, Andrew P South, Celine Pourreyron, Dimitra Dafou, Laura E Proudfoot, Hejab Al-Ajmi, Masashi Akiyama, W H Irwin McLean, Michael A Simpson, Maddy Parsons, John A McGrath
Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of transcription factors that play essential roles during epithelial development. Haploinsufficiency for GRHL2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated with any skin pathology. We investigated two unrelated Kuwaiti families in which a total of six individuals have had lifelong ectodermal defects. The clinical features comprised nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpigmentation, and dysphagia...
September 4, 2014: American Journal of Human Genetics
https://www.readbyqxmd.com/read/24839463/complex-small-supernumerary-marker-chromosome-with-a-15q-16p-duplication-clinical-implications
#10
Denise M Christofolini, Flavia B Piazzon, Carolina Evo, Fernanda A Mafra, Stella R Cosenza, Alexandre T Dias, Caio P Barbosa, Bianca Bianco, Leslie D Kulikowski
BACKGROUND: Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated in reproductive problems such as recurrent pregnancy loss. They may also be associated with congenital abnormalities in the offspring of carriers. Due to its genomic architecture, chromosome 15 is frequently associated with rearrangements and the formation of sSMCs. Recently, several different CNVs have been described at 16p11...
2014: Molecular Cytogenetics
https://www.readbyqxmd.com/read/24637033/the-dysphagia-disorder-survey-validation-of-an-assessment-for-swallowing-and-feeding-function-in-developmental-disability
#11
Justine Joan Sheppard, Roberta Hochman, Carolynn Baer
Swallowing and feeding disorder (dysphagia) have high incidence and prevalence in children and adults with developmental disability. Standardized screening and clinical assessments are needed to identify and describe the disorder. The aim of this study was to describe the psychometric properties of the Dysphagia Disorder Survey (DDS), a screening and clinical assessment of swallowing and feeding function for eating and drinking developed specifically for this population. The statistical analysis was performed on a sample of 654 individuals (age range 8-82) with intellectual and developmental disability living in two residential settings in the United States that served somewhat different populations...
May 2014: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/23336612/training-support-staff-to-modify-fluids-to-appropriate-safe-consistencies-for-adults-with-intellectual-disabilities-and-dysphagia-an-efficacy-study
#12
RANDOMIZED CONTROLLED TRIAL
D D Chadwick, J Stubbs, S Fovargue, D Anderson, G Stacey, S Tye
BACKGROUND: Modifying the consistency of food and drink is a strategy commonly used in the management of dysphagia for people with intellectual disabilities (ID). People with ID often depend on others for the preparation of food and drink and therefore depend on those caregivers achieving the correct consistency to keep them safe and avoid discomfort during mealtimes. Clinical experience and prior research have demonstrated that although training can improve modification, carers often find modification difficult and potentially stressful and recommend additional support for carers...
January 2014: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/23154058/epilepsy-in-adult-x-linked-adrenoleucodystrophy-due-to-the-deletion-c-1415-1416delag-in-exon-5-of-the-abcd1-gene
#13
Eva Brownstone, Till Voigtländer, Ulf Baumhackl, Josef Finsterer
Seizures in cerebral X-linked adrenoleucodystrophy (X-ALD) more frequently occur in the early-onset compared to the late-onset form. Here we describe an adult in whom X-ALD deteriorated after head trauma and who developed epilepsy with progression of X-ALD. In a 50 year-old Caucasian male, cerebral X-ALD was diagnosed upon progressive gait disturbance, intellectual decline, elevated very-long chain fatty acids in the serum or leucocytes, cerebral MRI, showing extensive, symmetric, homogenous demyelination in the parieto-occipital areas, the splenium corporis callosum, the thalamus, the crura cerebri, the brain stem, and the pedunculi cerebelli, and the deletion c...
January 15, 2013: Gene
https://www.readbyqxmd.com/read/22679182/plastic-bag-clip-discovered-in-partial-colectomy-accompanying-proposal-for-phylogenic-plastic-bag-clip-classification
#14
Larisa M Lehmer, Bruce D Ragsdale, John Daniel, Edwin Hayashi, Robert Kvalstad
A plastic bag clip was incidentally found anchored in the mucosa of a partial colectomy specimen 2.6 cm proximal to a ruptured diverticulum for which the patient, a mentally retarded, diabetic, 58-year-old man, underwent surgery. Over 20 cases of accidental ingestion of plastic bag clips have been published. Known complications include small bowel perforation, obstruction, dysphagia, gastrointestinal bleeding and colonic impaction. Preoperative diagnosis of plastic clips lodged in the gastrointestinal tract is frustrated due to radiographic translucency...
September 4, 2011: BMJ Case Reports
https://www.readbyqxmd.com/read/22306266/a-case-of-bulbar-type-cerebral-palsy-representative-symptoms-of-dorsal-brainstem-syndrome
#15
Masato Hiyane, Yoshiaki Saito, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Noriko Sato, Toshiyuki Yamamoto, Yoko Imai
In this study, we present the case of a 2-year-old boy who exhibited facial and bulbar paralysis since birth, severe dysphagia, signs of oculomotor disturbance, jaw jerks, pyramidal signs on both toes, intellectual disability, and severe gastroesophageal reflux. His blink reflex and auditory/somatosensory evoked potentials suggested abnormalities in the lower brainstem, and magnetic resonance imaging showed a T2 hyperintense area in the pontine tegmentum. These findings combined with the patient's symptoms suggested "dorsal brainstem syndrome" and indicated a possibility of prenatal asphyxia in this patient...
October 2012: Brain & Development
https://www.readbyqxmd.com/read/22019841/a-proposed-multidisciplinary-approach-for-identifying-feeding-abnormalities-in-children-with-cerebral-palsy
#16
Amelia Santoro, Maria Bianca Dasso Lang, Elena Moretti, Stefano Sellari-Franceschini, Laura Orazini, Paola Cipriani, Giovanni Cioni, Roberta Battini
Children with neurodevelopmental disabilities, such as cerebral palsy, frequently have associated oral motor dysfunction, which leads to feeding difficulties, risk of aspiration, prolonged feeding times, and malnutrition with its attendant physical compromise. The authors propose a comprehensive multidisciplinary assessment, including neurological and dysphagia examination and ear, nose, and throat examination, to evaluate clinical indicators and severity of feeding impairment in children affected by neurodevelopmental disorders...
June 2012: Journal of Child Neurology
https://www.readbyqxmd.com/read/21988217/the-extent-and-nature-of-need-for-mealtime-support-among-adults-with-intellectual-disabilities
#17
S L Ball, S G Panter, M Redley, C-A Proctor, K Byrne, I C H Clare, A J Holland
BACKGROUND: For many adults with an intellectual disability (ID), mealtimes carry significant health risks. While research and allied clinical guidance has focused mainly on dysphagia, adults with a range of physical and behavioural difficulties require mealtime support to ensure safety and adequate nutrition. The extent of need for and nature of such support within the wider ID population has yet to be reported. METHODS: In this study, we have estimated the prevalence of need for mealtime support among people with ID in the UK, using a population of 2230 adults known to specialist ID services (in Cambridgeshire, UK, total population 586,900)...
April 2012: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/21948486/recurrent-deletions-and-reciprocal-duplications-of-10q11-21q11-23-including-chat-and-slc18a3-are-likely-mediated-by-complex-low-copy-repeats
#18
Paweł Stankiewicz, Shashikant Kulkarni, Avinash V Dharmadhikari, Srirangan Sampath, Samarth S Bhatt, Tamim H Shaikh, Zhilian Xia, Amber N Pursley, M Lance Cooper, Marwan Shinawi, Alex R Paciorkowski, Dorothy K Grange, Michael J Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G Bonnemann, John B Moeschler, Stephanie E Vallee, Sumit Parikh, Polly Irwin, Victoria P Dalzell, Wendy E Smith, Valerie C Banks, David B Flannery, Carolyn M Lovell, Gary A Bellus, Kathryn Golden-Grant, Jerome L Gorski, Jennifer L Kussmann, Tracy L McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C Ballif, Chad A Shaw, Sung-Hae L Kang, Carlos A Bacino, Ankita Patel, Jill A Rosenfeld, Sau Wai Cheung, Lisa G Shaffer
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes...
January 2012: Human Mutation
https://www.readbyqxmd.com/read/21800689/-efficacy-of-botulinum-toxin-type-a-against-cervical-dystonia-and-muscular-hypertonia-in-persons-with-severe-motor-and-intellectual-disabilities-with-respiratory-problems-and-or-dysphagia
#19
Mina Yokoyama, Manami Honda, Yumi Okoshi, Tatsuo Masuyama, Yuji Iwasaki, Masataka Arima
We administered intramuscular injections of botulinum toxin type A (BTX-A) in 11 persons with cervical dystonia (CD) and muscular hypertonia (MH). All patients had severe motor and intellectual disabilities (SMID). Furthermore, in 10 patients, SMID was accompanied by respiratory problems and/or dysphagia. Three patients received night nasal intermittent positive pressure ventilation and 3 had undergone tracheotomy; 5 patients had upper respiratory problems. Because of these complications, BTX-A dose was gradually increased in those patients until the desired effect was obtained (mean last dose, 6...
July 2011: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/19748295/oral-microbial-and-respiratory-status-of-persons-with-mental-retardation-intellectual-and-developmental-disability-an-observational-cohort-study
#20
Catherine J Binkley, Gilbert S Haugh, Dinah H Kitchens, Debra L Wallace, Daniel I Sessler
OBJECTIVE: The objective of this study was to determine the prevalence of select microorganisms in oral biofilms and to investigate relationships between oral and respiratory status in persons with mental retardation/intellectual and developmental disabilities (IDD). STUDY DESIGN: We conducted a 6-month-long observational cohort study with 63 persons with IDD. Oral examinations, oral sampling, and medical record reviews were performed at baseline and then monthly...
November 2009: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
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