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intellectual disability and dysphagia

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https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#1
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29553299/the-novel-use-of-life-grids-in-a-phenomenological-study-of-family-carers-of-people-with-profound-intellectual-and-multiple-disabilities-and-dysphagia
#2
Hannah Crawford, Heather Wilkinson
Life grids have been used in qualitative studies for the last two decades. They provide an activity which researcher and participant can focus their attention on, help build rapport, and reduce the control the researcher may hold within a session. Here we describe the novel use of life grids at the end of a data collection phase. Used in this previously unreported way, life grids assisted the closure of the data collection phase by summarizing the data collection and marking departure from the field. Creation of a life grid produced a tangible outcome, evidencing the work undertaken within the data collection period...
March 1, 2018: Qualitative Health Research
https://www.readbyqxmd.com/read/29482036/health-related-quality-of-life-in-people-with-intellectual-disability-who-use-long-term-antipsychotic-drugs-for-challenging-behaviour
#3
Lotte Ramerman, Pieter J Hoekstra, Gerda de Kuijper
BACKGROUND: Many people with intellectual disabilities use long-term antipsychotics for challenging behaviour and experience side-effects from these drugs, which may affect Health-related Quality of Life (HQoL). AIMS: This study aimed to investigate HQoL in people with intellectual disabilities who use long-term antipsychotics and to investigate its associations with challenging behaviour and physical symptoms often associated with antipsychotics. MATERIALS AND METHODS: We used baseline data of two studies of long-term used antipsychotics...
February 23, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29194030/prevalence-of-dysphagia-in-people-with-intellectual-disability-a-systematic-review
#4
Janet Robertson, Darren Chadwick, Susannah Baines, Eric Emerson, Chris Hatton
Dysphagia (feeding and swallowing disorder) is associated with serious health complications and psychosocial sequelae. This review summarizes international research relating to the prevalence of dysphagia in people with intellectual disability. Studies published from 1990 to July 2016 were identified using Medline, Cinahl, PsycINFO, Web of Science, email requests, and cross-citations. Twenty studies were identified. Dysphagia in people with intellectual disability appears to be associated with more severe levels of intellectual disability, comorbid cerebral palsy, and motor impairments...
December 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28822297/validation-of-the-choking-risk-assessment-and-pneumonia-risk-assessment-for-adults-with-intellectual-and-developmental-disability-idd
#5
Justine Joan Sheppard, Georgia A Malandraki, Paula Pifer, Jill Cuff, Michelle Troche, Bronwyn Hemsley, Susan Balandin, Avinash Mishra, Roberta Hochman
BACKGROUND: Risk assessments are needed to identify adults with intellectual and developmental disability (IDD) at high risk of choking and pneumonia. AIM: To describe the development and validation of the Choking Risk Assessment (CRA) and the Pneumonia Risk Assessment (PRA) for adults with IDD. METHODS: Test items were identified through literature review and focus groups. Five-year retrospective chart reviews identified a positive choking group (PCG), a negative choking group (NCG), a positive pneumonia group (PPG), and a negative pneumonia group (NPG)...
August 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#6
REVIEW
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28295826/prevalence-types-and-associations-of-medically-unexplained-symptoms-and-signs-a-cross-sectional-study-of-1023-adults-with-intellectual-disabilities
#7
M Osugo, J Morrison, L Allan, D Kinnear, S-A Cooper
BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...
March 9, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28286961/people-with-intellectual-disabilities-and-dysphagia
#8
Janet Robertson, Darren Chadwick, Susannah Baines, Eric Emerson, Chris Hatton
PURPOSE: Dysphagia (difficulties in eating, drinking or swallowing) is associated with serious health complications and psychosocial sequelae. This review aims to summarise the state of the evidence regarding dysphagia in people with intellectual disabilities (excluding prevalence), identify gaps in the evidence base and highlight future research priorities. METHOD: Studies published from 1 January 1990 to 19 July 2016 were identified using Medline, Cinahl, PsycINFO, Web of Science, email requests and cross citations...
March 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27759943/subclinical-dysphagia-in-persons-with-prader-willi-syndrome
#9
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...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27642052/dental-treatment-of-a-patient-with-opitz-g-bbb-syndrome
#10
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
#11
G Glover, R Williams, P Heslop, J Oyinlola, 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...
January 2017: 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
#12
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...
January 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27151206/kcnk9-imprinting-syndrome-further-delineation-of-a-possible-treatable-disorder
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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