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intellectual disability and hearing impairment

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https://www.readbyqxmd.com/read/28895262/physical-and-mental-health-of-young-people-with-and-without-intellectual-disabilities-cross-sectional-analysis-of-a-whole-country-population
#1
G Young-Southward, E Rydzewska, C Philo, S-A Cooper
BACKGROUND: Transition to adulthood may be a period of vulnerability for health for individuals with intellectual disabilities. No large-scale studies have compared the health of individuals with and without intellectual disabilities undergoing transition. The aims of this study were (1) to compare health during transition for individuals with and without intellectual disabilities across a whole country population and (2) to establish whether transition is associated with health in the population with intellectual disabilities...
October 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28742629/noonan-syndrome-an-underestimated-cause-of-severe-to-profound-sensorineural-hearing-impairment-which-clues-to-suspect-the-diagnosis
#2
Alban Ziegler, Natalie Loundon, Laurence Jonard, Hélène Cavé, Geneviève Baujat, Souad Gherbi, Vincent Couloigner, Sandrine Marlin
OBJECTIVE: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. STUDY DESIGN: New clinical cases and review. SETTING: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. PATIENTS: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. INTERVENTIONS: Diagnostic and review of the literature...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#3
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#4
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28383538/long-term-outcomes-of-children-with-symptomatic-congenital-cytomegalovirus-disease
#5
T M Lanzieri, J Leung, A C Caviness, W Chung, M Flores, P Blum, S R Bialek, J A Miller, S S Vinson, M R Turcich, R G Voigt, G Demmler-Harrison
OBJECTIVE: To assess long-term outcomes of children with symptomatic congenital cytomegalovirus (CMV) disease detected at birth. STUDY DESIGN: We used Cox regression to assess risk factors for intellectual disability (intelligence quotient <70), sensorineural hearing loss (SNHL; hearing level ⩾25 dB in any audiometric frequency) and vision impairment (best corrected visual acuity >20 or based on ophthalmologist report). RESULTS: Among 76 case-patients followed through median age of 13 (range: 0-27) years, 56 (74%) had SNHL, 31 (43%, n=72) had intellectual disability and 18 (27%, n=66) had vision impairment; 28 (43%, n=65) had intellectual disability and SNHL with/without vision impairment...
July 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#6
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28277392/impaired-kidney-function-and-associated-factors-among-rural-adults-with-disabilities-in-taiwan
#7
Chu-Yeh Chen, Wen-Nan Chiu, Yu-Chen Lin, Sui-Hwi Jane, Hsin-Hung Chiang, Mei-Yen Chen
BACKGROUND: The results of numerous studies indicate that people with disabilities seek more healthcare than those who are not disabled, particularly for conditions such as chronic kidney disease, cardiovascular disease, and obesity. However, little is known about the incidence of impaired kidney function and its associated factors among adults with disabilities in Taiwan. PURPOSE: The aim of this study was to explore the prevalence and factors associated with impaired kidney function among adults with disabilities...
April 2017: Journal of Nursing Research: JNR
https://www.readbyqxmd.com/read/28257692/a-ribosomopathy-reveals-decoding-defective-ribosomes-driving-human-dysmorphism
#8
Nahuel A Paolini, Martin Attwood, Samuel B Sondalle, Carolina Marques Dos Santos Vieira, Anita M van Adrichem, Franca M di Summa, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Swaksha Rachuri, Joseph W Briggs, Roman Fischer, Peter J Ratcliffe, Marcin W Wlodarski, Riekelt H Houtkooper, Marieke von Lindern, Taco W Kuijpers, Jonathan D Dinman, Susan J Baserga, Matthew E Cockman, Alyson W MacInnes
Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic features. One individual additionally presents with intellectual disability and autism spectrum disorder. The amino acid substitutions lie in two highly conserved loop regions of uS12 with known roles in maintaining the accuracy of mRNA codon translation...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28113094/validity-of-the-modified-berg-balance-scale-in-adults-with-intellectual-and-visual-disabilities
#9
Annemarie Dijkhuizen, Wim P Krijnen, Cees P van der Schans, Aly Waninge
BACKGROUND: A modified version of the Berg Balance Scale (mBBS) was developed for individuals with intellectual and visual disabilities (IVD). However, the concurrent and predictive validity has not yet been determined. AIM: The purpose of the current study was to evaluate the concurrent and predictive validity of the mBBS for individuals with IVD. METHOD: Fifty-four individuals with IVD and Gross Motor Functioning Classification System (GMFCS) Levels I and II participated in this study...
March 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28112128/visual-function-of-children-with-visual-and-other-disabilities-in-oman-a-case-series
#10
MULTICENTER STUDY
Urmi Gogri, Rajiv Khandekar, Salah Al Harby
BACKGROUND: We assessed the visual functioning of the children with special needs in Oman between 2009 and 2012. We present the methods of assessing different visual functions, outcomes, and interventions carried out to improve their functioning. METHODS: Optometrists assessed visual functions of children of "Day care centres" in Oman. Experts further assessed them and provided low vision care. Ocular movements, refractive corrections, near, distance, contrast color, motion, field of vision, and cognitive visual function test results were noted...
December 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28092643/physical-activity-and-sedentary-time-among-children-with-disabilities-at-school
#11
Cindy H P Sit, Thomas L McKenzie, Ester Cerin, Bik C Chow, Wendy Y Huang, Jie Yu
PURPOSES: Physical activity (PA) is important for the development of children with disabilities, but rarely does this population meet the recommended standards. Schools are salient locations for PA, but little is known about how specific school settings affect the PA of children with diverse disabilities. We assessed PA and sedentary time (ST) of children with disabilities in three school settings (physical education, recess, lunchtime). METHODS: Participants included 259 children from 13 Hong Kong special schools for five primary disabilities: visual impairments, hearing impairments, physical disabilities, intellectual disabilities, and social development problems...
February 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#12
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#13
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
March 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28039919/hearing-impairment-in-a-female-infant-with-interstitial-deletion-of-2q24-1q24-3
#14
Hiroaki Ono, Kenji Kurosawa, Nobuaki Wakamatsu, Shin Masuda
Patients with interstitial deletions in 2q24.1q24.3 are rarely reported. These patients manifest a variety of clinical features in addition to intellectual disability, depending on the size and location of the deletion. We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response...
December 30, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#15
REVIEW
Mark D Simms
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations)...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27783798/self-reported-prevalence-of-disability-in-brazil-according-to-the-national-health-survey-2013
#16
Deborah Carvalho Malta, Sheila Rizzato Stopa, Rogerio Canuto, Nayara Lopes Gomes, Vera Lúcia Ferreira Mendes, Bárbara Niegia Garcia de Goulart, Lenildo de Moura
Objective: To describe the self-reported prevalence of intellectual disability, physical, hearing and visual, according to sociodemographic variables, degree of limitation and frequency of rehabilitation service use. Methods: Data from the National Health Survey, a population survey. the self-reported prevalence of physical, mental, visual and hearing were calculated and their 95% confidence intervals, stratified by sex, age, race / color, for Brazil, place of residence and Major Regions...
October 2016: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/27739185/middle-ear-abnormalities-in-van-maldergem-syndrome
#17
Emmy Verheij, Henricus G X M Thomeer, Frank A Pameijer, Vedat Topsakal
Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability, blepharo-naso-facial malformation, and hand anomalies. Almost all nine described patients have been shown to be affected by conductive hearing impairment attributed to microtia, and atresia of the outer ear canal. Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27686986/-social-emotional-competence-in-young-children-with-hearing-visual-or-intellectual-impairments-an-explorative-study-with-the-itsea
#18
Klaus Sarimski, Manfred Hintermair, Markus Lang
Social-Emotional Competence in Young Children with Hearing, Visual or Intellectual Impairments - an Explorative Study with the ITSEA Early emotional and social competence is considered as an important requirement for social participation in family and child care settings. We report on a study exploring the usefulness of the competence scales as a part of the "Infant-Toddler Social and Emotional Assessment" (ITSEA) for one- to three-year old children in a sample of 253 toddlers with hearing, visual or intellectual impairments...
October 2016: Praxis der Kinderpsychologie und Kinderpsychiatrie
https://www.readbyqxmd.com/read/27671186/congenital-limb-deficiency-associated-with-intellectual-disability-unusual-presentation-in-two-subjects
#19
Muhammad Ummear Raza, Waheed Ullah, Sajid Malik
Congenital constriction ring (CCR) and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability (ID) and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments...
September 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27570071/hypomorphic-mks1-mutation-in-a-pakistani-family-with-mild-joubert-syndrome-and-atypical-features-expanding-the-phenotypic-spectrum-of-mks1-related-ciliopathies
#20
Saadullah Khan, Imran Ullah, Abdul Nasir, C Arnoud Meijer, Marlies Laurense-Bik, Johan T den Dunnen, Claudia A L Ruivenkamp, Mariëtte J V Hoffer, Gijs W E Santen, Wasim Ahmad
Postaxial polydactyly (PAP) is one of the most common congenital malformations observed in the general population. However, it can also occur as part of a syndrome. Unbiased genetic screening techniques such as exome sequencing are highly appropriate methods to provide a molecular diagnosis in patients with polydactyly due to the large number of mutated genes associated with it. The present study describes a consanguineous family of Pakistani origin with PAP, speech impairment, hearing impairment of variable degree, and proportionate short stature with no prominent intellectual disability or ophthalmological abnormalities...
August 29, 2016: American Journal of Medical Genetics. Part A
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