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intellectual disability and hearing impairment

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https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#1
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
#2
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
#3
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...
October 14, 2016: 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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/27440764/facial-emotion-recognition-in-adolescents-with-disabilities-the-effects-of-type-of-disability-and-gender
#7
Haris Memisevic, Edin Mujkanovic, Inga Ibralic-Biscevic
Emotion recognition is very important for successful social interactions. This study compared adolescents with intellectual disability and adolescents with hearing impairment on a facial emotion recognition task. The sample for this study comprised 78 adolescents (46.2% females, 53.8% males; M age = 16.4, SD = 1.0) divided into three groups (N = 26) of adolescents with intellectual disability, adolescents with hearing impairment, and adolescents without disabilities. Emotion recognition abilities were measured using a computerized Emotion Recognition Test...
August 2016: Perceptual and Motor Skills
https://www.readbyqxmd.com/read/27256512/arts-syndrome-with-a-novel-missense-mutation-in-the-prps1-gene-a-case-report
#8
Koichi Maruyama, Shunsuke Ogaya, Naoko Kurahashi, Ayako Umemura, Keitaro Yamada, Akihiro Hashiguchi, Hiroshi Takashima, Rosa J Torres, Kosaburo Aso
Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-function mutation in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1. Only three families have been reported. Here, we report another family with Arts syndrome. The initial symptoms of the 1-year-old proband were hypotonia and ataxia, worsening recurrent infection-triggered muscle weakness, motor and intellectual developmental delay, and hearing loss...
May 30, 2016: Brain & Development
https://www.readbyqxmd.com/read/27214832/outcomes-of-long-term-audiological-rehabilitation-in-charge-syndrome
#9
P Trevisi, A Ciorba, C Aimoni, R Bovo, A Martini
The aim of this paper is to assess the long-term audiological features and outcomes of hearing rehabilitation in a large group of individuals with CHARGE Syndrome. The study has been conducted retrospectively, on a paediatric patient database, at the Audiology Department of the University Hospitals of Ferrara and Padua. The study sample included 31 children presenting with different degrees of hearing impairment associated with CHARGE syndrome. Hearing was assessed using auditory brainstem responses (ABRs) and/or electrocochleography, or conditioned audiometry (visual reinforcement audiometry [VRA] or play audiometry)...
June 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27214680/the-clinical-outcomes-of-deep-gray-matter-injury-in-children-with-cerebral-palsy-in-relation-with-brain-magnetic-resonance-imaging
#10
Ja Young Choi, Yoon Seong Choi, Dong-Wook Rha, Eun Sook Park
UNLABELLED: In the present study we investigated the nature and extent of clinical outcomes using various classifications and analyzed the relationship between brain magnetic resonance imaging (MRI) findings and the extent of clinical outcomes in children with cerebral palsy (CP) with deep gray matter injury. The deep gray matter injuries of 69 children were classified into hypoxic ischemic encephalopathy (HIE) and kernicterus patterns. HIE patterns were divided into four groups (I-IV) based on severity...
August 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27068877/asymptomatic-congenital-cytomegalovirus-infection-with-neurological-sequelae-a-retrospective-study-using-umbilical-cord
#11
Mitsugu Uematsu, Kazuhiro Haginoya, Atsuo Kikuchi, Naomi Hino-Fukuyo, Keiko Ishii, Takashi Shiihara, Mitsuhiro Kato, Atsushi Kamei, Shigeo Kure
BACKGROUND: Congenital cytomegalovirus (CMV) infection causes various neurological sequelae. However, most infected infants are asymptomatic at birth, and retrospective diagnosis is difficult beyond the neonatal period. OBJECTIVE: This study aimed to investigate the aspects of neurological sequelae associated with asymptomatic congenital CMV infection. METHODS: We retrospectively analyzed 182 patients who were suspected of having asymptomatic congenital CMV infection with neurological symptoms in Japan...
October 2016: Brain & Development
https://www.readbyqxmd.com/read/26998773/impaired-kidney-function-and-associated-factors-among-rural-adults-with-disabilities-in-taiwan
#12
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...
March 19, 2016: Journal of Nursing Research: JNR
https://www.readbyqxmd.com/read/26986877/the-expanding-clinical-phenotype-of-bosch-boonstra-schaaf-optic-atrophy-syndrome-20-new-cases-and-possible-genotype-phenotype-correlations
#13
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Frans P M Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K Chung, Dmitriy Niyazov, Juan M Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M Hisama, Bert B A de Vries, Christian Schaaf
PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new individuals with BBSOAS, exploring the spectrum of clinical phenotypes and assessing potential genotype-phenotype correlations. METHODS: Clinical features of individuals with pathogenic NR2F1 variants were evaluated by review of medical records. The functional relevance of coding nonsynonymous NR2F1 variants was assessed with a luciferase assay measuring the impact on transcriptional activity...
November 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26921530/a-case-of-mild-charge-syndrome-associated-with-a-splice-site-mutation-in-chd7
#14
Constance Wells, Natalie Loundon, Noël Garabedian, Sylvette Wiener-Vacher, Marie-Dominique Cordier-Bouvier, Géraldine Goudeffroye, Tania Attié-Bitach, Sandrine Marlin
CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further investigation showed abnormal semicircular canals and the presence of olfactory bulbs. He does not fulfill the Blake or the Verloes criteria for CHARGE...
April 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26875550/-an-updated-review-of-1p36-deletion-monosomy-syndrome
#15
Sabina Bello, Antonio Rodríguez-Moreno
: The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases)...
February 11, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/26869942/%C3%A2-cognitus-moi%C3%A2-a-computer-based-cognitive-remediation-program-for-children-with-intellectual-disability
#16
Caroline Demily, Caroline Rigard, Elodie Peyroux, Gabrielle Chesnoy-Servanin, Aurore Morel, Nicolas Franck
Attentional, visuospatial, and social cognition deficits have a negative impact on children's adaptative and social competences and, as a result, on their ability to achieve a normal functioning and behavior. Until now and despite the frequency of those deficits, there is a lack of children's specific cognitive remediation tools specifically dedicated to attentional and visuospatial areas. The «Cognitus & Moi» program involves a variety of exercises in a paper and/or pencil (n = 30) or a computerized format (n = 29) and a strategy coaching approach...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/26843489/mutations-in-exosc2-are-associated-with-a-novel-syndrome-characterised-by-retinitis-pigmentosa-progressive-hearing-loss-premature-ageing-short-stature-mild-intellectual-disability-and-distinctive-gestalt
#17
Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump
BACKGROUND: Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. METHODS: Clinical ascertainment of three similar affected patients followed by whole exome sequencing. RESULTS: Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability...
June 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26817023/chronic-enzyme-replacement-therapy-ameliorates-neuropathology-in-alpha-mannosidosis-mice
#18
Markus Damme, Stijn Stroobants, Meike Lüdemann, Michelle Rothaug, Renate Lüllmann-Rauch, Hans Christian Beck, Annika Ericsson, Claes Andersson, Jens Fogh, Rudi D'Hooge, Paul Saftig, Judith Blanz
OBJECTIVE: The lysosomal storage disease alpha-mannosidosis is caused by the deficiency of the lysosomal acid hydrolase alpha-mannosidase (LAMAN) leading to lysosomal accumulation of neutral mannose-linked oligosaccharides throughout the body, including the brain. Clinical findings in alpha-mannosidosis include skeletal malformations, intellectual disabilities and hearing impairment. To date, no curative treatment is available. We previously developed a beneficial enzyme replacement therapy (ERT) regimen for alpha-mannosidase knockout mice, a valid mouse model for the human disease...
November 2015: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/26775928/intellectual-disabilities-among-prisoners-prevalence-and-mental-and-physical-health-comorbidities
#19
Mike Hellenbach, Thanos Karatzias, Michael Brown
BACKGROUND: Limited evidence suggests that people with ID (ID) are overrepresented in prisons although prevalence rates of ID among prisoners vary significantly across studies, making it difficult to identify prevalence and assess existing need. METHOD: A systematic review of relevant literature was conducted, and results were organized and compared in relation to study aims, design, measures used to screen for ID, sample, limitations and key findings. RESULTS: Existing international data suggest a prevalence of prisoners with ID between 7 and 10%...
January 18, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/26754677/interstitial-6q25-microdeletion-syndrome-arid1b-is-the-key-gene
#20
Luisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, Marco Baccarin, Susanna Esposito, Donatella Milani
Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, microcephaly, and non-specific multiple organ anomalies. The critical region for the interstitial 6q microdeletion phenotype was mapped to 6q24-6q25, particularly the 6q25.3 region containing the genes ARID1B and ZDHHC14. It has been hypothesized that haploinsufficiency of these genes impairs normal development of the brain and is responsible for the phenotype...
May 2016: American Journal of Medical Genetics. Part A
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