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Hearing Disorders: HELP
Articles by Amanda C. Smith
Based on 3 articles published since 2010
(Why 3 articles?)

Between 2010 and 2020, Amanda Smith wrote the following 3 articles about Hearing Disorders.
+ Citations + Abstracts
1 Review Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder. 2019

Smith, Amanda / Storti, Samantha / Lukose, Richard / Kulesza, Randy J. · ·J Am Osteopath Assoc · Pubmed #30615041.

ABSTRACT: Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with difficulties in the social, communicative, and behavioral domains. Most cases of ASD arise from an unknown etiologic process, but there are numerous risk factors, including comorbidities and maternal exposures. Although it is not part of the diagnostic criteria, hearing difficulties ranging from deafness to hyperacusis are present in the majority of persons with ASD. High-functioning children with ASD have been found to have significantly slower and asymmetric auditory brainstem reflexes. Additionally, histopathological studies of postmortem brainstems in decedents who had ASD have consistently revealed significantly fewer neurons in auditory nuclei compared with those in people who did not have ASD. The authors review the literature implicating auditory dysfunction in ASD along with results from human study participants and postmortem human brain tissue. Together, these results implicate significant structural and functional abnormalities in the auditory brainstem in ASD and support the utility of auditory testing to screen for ASD.

2 Review Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 2016

Huang, Lijia / Vanstone, Megan R / Hartley, Taila / Osmond, Matthew / Barrowman, Nick / Allanson, Judith / Baker, Laura / Dabir, Tabib A / Dipple, Katrina M / Dobyns, William B / Estrella, Jane / Faghfoury, Hanna / Favaro, Francine P / Goel, Himanshu / Gregersen, Pernille A / Gripp, Karen W / Grix, Art / Guion-Almeida, Maria-Leine / Harr, Margaret H / Hudson, Cindy / Hunter, Alasdair G W / Johnson, John / Joss, Shelagh K / Kimball, Amy / Kini, Usha / Kline, Antonie D / Lauzon, Julie / Lildballe, Dorte L / López-González, Vanesa / Martinezmoles, Johanna / Meldrum, Cliff / Mirzaa, Ghayda M / Morel, Chantal F / Morton, Jenny E V / Pyle, Louise C / Quintero-Rivera, Fabiola / Richer, Julie / Scheuerle, Angela E / Schönewolf-Greulich, Bitten / Shears, Deborah J / Silver, Josh / Smith, Amanda C / Temple, I Karen / Anonymous80847 / van de Kamp, Jiddeke M / van Dijk, Fleur S / Vandersteen, Anthony M / White, Sue M / Zackai, Elaine H / Zou, Ruobing / Anonymous90847 / Bulman, Dennis E / Boycott, Kym M / Lines, Matthew A. ·The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. · Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada. · Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. · Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware. · Clinical Genetics Department, Belfast City Hospital, Belfast, UK. · Department of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California. · Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. · Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington. · Department of Medical Genetics, Westmead Hospital, Sydney, Australia. · The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. · Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. · Hunter Genetics, Newcastle, Waratah, Australia. · University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Callaghan, Australia. · Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. · Department of Genetics, Permanente Medical Group, Roseville, California. · Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. · The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania. · Shodair Children's Hospital, Helena, Montana. · Medical Geneticist, Ottawa, Ontario, Canada. · Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts. · West of Scotland Clinical Genetics Service, South Glasgow University Hospital, Glasgow, UK. · Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland. · Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK. · Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada. · Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain. · Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. · Department of Genetics, Sacramento Medical Center, Sacramento, California. · NSW Health Pathology, Newcastle, Australia. · West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK. · Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. · Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California. · Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas. · Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. · Oxford Regional Genetics Service, The Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK. · Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. · Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK. · Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands. · Maritime Medical Genetics Service, IWKHealth Centre, Halifax, Nova Scotia, Canada. · Victoria Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia. · Department of Paediatrics, University of Melbourne, Melbourne, Australia. · Newborn Screening Ontario, The Children's Hospital of Eastern Ontario, Ottawa, Canada. · Metabolics and Newborn Screening, Department of Pediatrics, The Children's Hospital of Eastern Ontario, Ottawa, Canada. ·Hum Mutat · Pubmed #26507355.

ABSTRACT: Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 individuals described to date, and report mutations in 38 new individuals, bringing the total number of reported individuals to 107 individuals from 94 kindreds. Pathogenic EFTUD2 variants comprise 76 distinct mutations and seven microdeletions. Among point mutations, missense substitutions are infrequent (14 out of 76; 18%) relative to stop-gain (29 out of 76; 38%), and splicing (33 out of 76; 43%) mutations. Where known, mutation origin was de novo in 48 out of 64 individuals (75%), dominantly inherited in 12 out of 64 (19%), and due to proven germline mosaicism in four out of 64 (6%). Highly penetrant clinical features include, microcephaly, first and second arch craniofacial malformations, and hearing loss; esophageal atresia is present in an estimated ∼27%. Microcephaly is virtually universal in childhood, with some adults exhibiting late "catch-up" growth and normocephaly at maturity. Occasionally reported anomalies, include vestibular and ossicular malformations, reduced mouth opening, atrophy of cerebral white matter, structural brain malformations, and epibulbar dermoid. All reported EFTUD2 mutations can be found in the EFTUD2 mutation database (http://databases.lovd.nl/shared/genes/EFTUD2).

3 Article Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. 2016

Kernohan, Kristin D / Cigana Schenkel, Laila / Huang, Lijia / Smith, Amanda / Pare, Guillaume / Ainsworth, Peter / Anonymous3330880 / Boycott, Kym M / Warman-Chardon, Jodi / Sadikovic, Bekim. ·Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Road, Ottawa, Ontario K1H 8L1 Canada. · Department of Pathology and Lab Medicine, Western University, London, Ontario Canada. · Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON Canada. · Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON Canada. · Department of Biochemistry, Western University, London, ON Canada. · Children's Health Research Institute, London, ON Canada. · Division of Neurology, The Ottawa Hospital, Ottawa, Ontario Canada. · Ottawa Hospital Research Institute, Ottawa, Ontario Canada. · Molecular Genetics Laboratory, Victoria Hospital, London Health Sciences Centre, 800 Commissioner's Road E, London, ON N6A 5W9 Canada. ·Clin Epigenetics · Pubmed #27602171.

ABSTRACT: BACKGROUND: DNA methylation is an essential epigenetic mark, controlled by DNA methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression throughout the genome. In this study, we describe a family with adult-onset autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) caused by mutations in the maintenance methyltransferase DNMT1 and assess the DNA methylation profile of these individuals. RESULTS: We report a family with six individuals affected with ADCA-DN; specifically, patients first developed hearing loss and ataxia, followed by narcolepsy, and cognitive decline. We identified a heterozygous DNMT1 variant, c.1709C>T [p.Ala570Val] by Sanger sequencing, which had been previously reported as pathogenic for ADCA-DN and segregated with disease in the family. DNA methylation analysis by high-resolution genome-wide DNA methylation array identified a decrease in CpGs with 0-10 % methylation and 80-95 % methylation and a concomitant increase in sites with 10-30 % methylation and >95 % methylation. This pattern suggests an increase in methylation of normally unmethylated regions, such as promoters and CpG islands, as well as further methylation of highly methylated gene bodies and intergenic regions. Furthermore, a regional analysis identified 82 hypermethylated loci with consistent robust differences across ≥5 consecutive probes compared to our large reference cohort. CONCLUSIONS: This report identifies robust changes in the DNA methylation patterns in ADCA-DN patients, which is an important step towards elucidating disease pathogenesis.