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intellectual disability and hearing impairment

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https://www.readbyqxmd.com/read/29754270/heterozygous-missense-variants-of-lmx1a-lead-to-nonsyndromic-hearing-impairment-and-vestibular-dysfunction
#1
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A Huynen, Hanka Venselaar, Andy J Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M van Rossum, Bas P Hartel, Stefan H Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J Rotteveel, Marieke F van Dooren, Peter Lichtner, Henricus P M Kunst, Ilse Feenstra, Ronald J C Admiraal, Helger G Yntema, Lies H Hoefsloot, Ronald J E Pennings, Hannie Kremer
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein-protein interactions...
May 12, 2018: Human Genetics
https://www.readbyqxmd.com/read/29728193/2q24-deletion-in-a-9-month-old-girl-with-anal-atresia-hearing-impairment-and-hypotonia
#2
Peiwei Zhao, Bing Mao, Xiaonan Cai, Jun Jiang, Zhisheng Liu, Jun Lin, Xuelian He
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Here we described a 9-month-old female patient with hypotonia in all four limbs, developmental delay, and intellectual disability. In addition, congenital anal atresia was diagnosed and treated after birth, and hearing impairment was found in right ear...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29722015/east-sesame-syndrome-review-of-the-literature-and-introduction-of-four-new-latvian-patients
#3
REVIEW
C Marta, M Ieva, I Inna, A Mareta, K Sandra, J Pereca, S Janis, P Dita, S Jurgis
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations in at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29713311/cryptorchidism-in-boys-with-cerebral-palsy-is-associated-with-the-severity-of-disease-and-with-co-occurrence-of-other-congenital-anomalies
#4
Julia Spencer Barthold, Anton Wintner, Jennifer A Hagerty, Kenneth J Rogers, Md Jobayer Hossain
Background: Cryptorchidism is reported in 40-50% of small case series of cerebral palsy (CP) and attributed to hypothalamic-pituitary-gonadal axis abnormalities, intellectual disability (ID), or cremaster spasticity. We collected demographic and clinical data to define the frequency of cryptorchidism and clinical comorbidities in a large CP population. Methods: Electronic health record data were collected for all male patients ≥7 years of age seen in a large, multidisciplinary CP clinic between 2000 and 2016...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29710020/-a-15-year-old-girl-with-congenital-cytomegalovirus-infection-presenting-with-sensorineural-hearing-impairment-and-cerebral-while-matter-lesions-but-no-intellectual-disability
#5
Keiichi Nakagawa, Masato Kadoya, Hiroshi Matsumoto, Hiroyuki Moriuchi, Katsunori Ikewaki, Kenichi Kaida
A 15-year-old girl presented with non-progressive sensorineural hearing impairment in her right ear since her early childhood. She had normal intellectual development. When she was 15 years old, small deep white matter lesions around the lateral ventricles were incidentally detected in brain MRI studies through further investigation of auditory organs. Laboratory data including cerebrospinal fluid analysis and antibodies to aquaporin-4 or myelin-oligodendrocyte glycoprotein were normal. She was diagnosed as a congenital cytomegalovirus (CMV) infection based on the detection of CMV DNA from preserved umbilical cord tissue by real-time polymerase chain reaction...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29667705/intellectual-disability-in-cerebral-palsy-a-population-based-retrospective-study
#6
Susan M Reid, Elaine M Meehan, Sarah J Arnup, Dinah S Reddihough
AIM: A population-based observational study design was used to describe the epidemiology of intellectual disability in cerebral palsy (CP) in terms of clinical and neuroimaging associations, and to report the impact of intellectual disability on utilization of health services and length of survival. METHOD: Population CP registry data were used to retrospectively assess the frequency of intellectual disability and strength of associations between intellectual disability and mobility, epilepsy, vision, hearing, communication, and neuroimaging patterns (n=1141)...
July 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29460469/further-delineation-of-an-entity-caused-by-crebbp-and-ep300-mutations-but-not-resembling-rubinstein-taybi-syndrome
#7
Leonie A Menke, Thatjana Gardeitchik, Peter Hammond, Ketil R Heimdal, Gunnar Houge, Sophia B Hufnagel, Jianling Ji, Stefan Johansson, Sarina G Kant, Esther Kinning, Eyby L Leon, Ruth Newbury-Ecob, Stefano Paolacci, Rolph Pfundt, Nicola K Ragge, Tuula Rinne, Claudia Ruivenkamp, Sulagna C Saitta, Yu Sun, Marco Tartaglia, Paulien A Terhal, Anthony J van Essen, Magnus D Vigeland, Bing Xiao, Raoul C Hennekam
In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29404299/long-term-follow-up-of-retinoblastoma-survivors-experience-from-india
#8
Rachna Seth, Amitabh Singh, Vijay Guru, Bhavna Chawla, Sushmita Pathy, Savita Sapra
Background: Retinoblastoma (Rb) is the most common primary intraocular tumor of infancy and childhood. Survivors' ocular and visual problems and increased risk for subsequent malignancy are well documented, but data on long-term health status of Rb survivors are limited, this being particularly true for India. Methodology: Children who had completed treatment for Rb at least 2 years ago before and were under follow-up at the after cancer treatment clinic were evaluated...
October 2017: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/29281324/multimorbidity-and-polypharmacy-are-independently-associated-with-mortality-in-older-people-with-intellectual-disabilities-a-5-year-follow-up-from-the-ha-id-study
#9
Josje D Schoufour, Alyt Oppewal, Hanne J K van der Maarl, Heidi Hermans, Heleen M Evenhuis, Thessa I M Hilgenkamp, Dederieke A Festen
We studied the association between multimorbidity, polypharmacy, and mortality in 1,050 older adults (50+) with intellectual disability (ID). Multimorbidity (presence of ≥ 4 chronic health conditions) and polypharmacy (presence ≥ 5 chronic medication prescriptions) were collected at baseline. Multimorbidity included a wide range of disorders, including hearing impairment, thyroid dysfunction, autism, and cancer. Mortality data were collected during a 5-year follow-up period. Cox proportional hazards models were used to determine the independent association between multimorbidity and polypharmacy with survival...
January 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29229361/an-updated-literature-review-on-maternal-fetal-and-reproductive-disorders-of-toxoplasma-gondii-infection
#10
REVIEW
S Fallahi, A Rostami, M Nourollahpour Shiadeh, H Behniafar, S Paktinat
BACKGROUND: Toxoplasma gondii infection is one of the most prevalent infectious disease with worldwide distribution. Congenital toxoplasmosis is annually responsible for 1.20 million disability-adjusted life years around the world, but often it is overlooked many countries. METHODS: We performed an updated review to summarize the current researches on fetal, neonatal and maternal consequences of T. gondii infection and also adverse effects of toxoplasmosis on women reproductive organs...
March 2018: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29214701/a-population-based-cross-sectional-study-of-the-prevalence-and-correlates-of-sedentary-behaviour-of-adults-with-intellectual-disabilities
#11
C A Melville, A McGarty, L Harris, L Hughes-McCormack, M Baltzer, L A McArthur, J Morrison, L Allan, S-A Cooper
BACKGROUND: High levels of sedentary behaviour have a negative impact on health and well-being. There is limited evidence on the prevalence and correlates of sedentary behaviour of adults with intellectual disabilities (ID). METHODS: A population-based sample of adults with ID were invited to take part in a comprehensive health check programme. Demographic and health data were collected during a structured interview and physical examination. Screen time was used as a proxy measure of sedentary behaviour...
January 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29179740/childhood-disability-in-malawi-a-population-based-assessment-using-the-key-informant-method
#12
Myroslava Tataryn, Sarah Polack, Linda Chokotho, Wakisa Mulwafu, Petros Kayange, Lena Morgon Banks, Christiane Noe, Chris Lavy, Hannah Kuper
BACKGROUND: Epidemiological data on childhood disability are lacking in Low and Middle Income countries (LMICs) such as Malawi, hampering effective service planning and advocacy. The Key Informant Method (KIM) is an innovative, cost-effective method for generating population data on the prevalence and causes of impairment in children. The aim of this study was to use the Key Informant Method to estimate the prevalence of moderate/severe, hearing, vision and physical impairments, intellectual impairments and epilepsy in children in two districts in Malawi and to estimate the associated need for rehabilitation and other services...
November 28, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29114539/using-smartphones-to-help-people-with-intellectual-and-sensory-disabilities-perform-daily-activities
#13
Giulio E Lancioni, Nirbhay N Singh, Mark F O'Reilly, Jeff Sigafoos, Gloria Alberti, Carmen Zimbaro, Valeria Chiariello
Background: People with mild-to-moderate intellectual disability and sensory impairments often fail to take initiative in starting and carrying out daily activities, with negative consequences for their occupational condition and social status. Their failure seems due to their inability to determine the right time for the activities and to remember all the activity steps. Aim: This study assessed a smartphone intervention, which was designed to help eight participants (four presenting with intellectual disability and blindness and four presenting with intellectual disability and hearing impairment) to independently start and carry out daily activities at appropriate times...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/29072484/accelerometer-assessed-physical-activity-and-sedentary-time-in-youth-with-disabilities
#14
Karin Lobenius-Palmér, Birgitta Sjöqvist, Anita Hurtig-Wennlöf, Lars-Olov Lundqvist
This study compared accelerometer-assessed habitual physical activity (PA), sedentary time, and meeting PA recommendations among 102 youth with disabilities (7-20 years) in four subgroups-physical/visual impairments, intellectual disability, autism spectrum disorders, and hearing impairment-and 800 youth with typical development (8-16 years). Low proportions of youth with disabilities met PA recommendations, and they generally were less physically active and more sedentary than youth with typical development...
January 1, 2018: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/29062322/whole-gene-deletion-of-ebf3-supporting-haploinsufficiency-of-this-gene-as-a-mechanism-of-neurodevelopmental-disease
#15
Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel
Mutations in early B cell factor 3 ( EBF3 ) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported...
2017: Frontiers in Genetics
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
#16
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
#17
REVIEW
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
#18
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...
September 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
#19
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
#20
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
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