Genetic Bases of Hearing Loss: Future Treatment Implications
|
|
|
- Bartholomew Lane
- 8 years ago
- Views:
Transcription
1 Genetic Bases of Hearing Loss: Future Treatment Implications Luis F. Escobar, MD Medical Director Medical Genetics & Neurodevelopmental Pediatrics of Indiana Peyton Manning Children s Hospital St. Vincent Hospital and Health Services Indianapolis, Indiana
2 1. Review Basic Concepts and Ideas 2. Review Gene Involvement in Hearing and Auditory organs development 3. Review some of the future forms of treatment involving hearing loss 4. Review the importance of recognizing that genetic testing does not equal to genetic evaluation
3 Special Needs Used in clinical diagnostic and functional development to describe individuals who require assistance : medical, mental, or psychological Special needsoften refers to special needs within an educational context. This is also referred to as special educational needs (SEN). In Germany a similar term exists. Special needs children are called "besondere Kinder" ("special children").
4 Special Needs Environmental Experience Me Family Friends School Community Genetic Inheritance Wilder Society
5 Establishment of a System
6 Medical Special Needs in the US 19% of Americans are classified as a person with a special need, which equals the population of thestates of FL and CA combined 41% of children with developmental difficulties have multiple special needs 17% of Americans will experience a communication disorder at some point in their life, which includes sensing, interpreting and responding (i.e. auditory processing disorder).
7 Medical Genetics 20-40% Of Children with hearing loss have other disabilities 900 Genetic conditions have been described to include hearing loss and other special needs 802 Conditions have been described to present with deafness Isolated hearing loss may not be the most common form of hearing loss in the future
8 Other Diagnoses Associated with Hearing Loss Gallaudet Research Institute, 2003 Diagnosis % Learning difficulties 10.7 Developmental delay 9.8 Attention difficulties 6.6 Blindness and low vision 3.9 Cerebral palsy 3.5 Emotional disturbance 1.5 Other conditions 12.1 TOTAL 48.1
9 Genetics: A case against perfection
10 Developments 1) Molecular/genetic understanding of hereditary hearing loss vastly enhanced over last 10 years Genetic testing and Genetic Evaluation is now an integral part on the assessment of children with hearing impairment 2) Early intervention [medical vs. surgical] now standard of care with limitations 3) Genetic treatment may be the choice in the future
11 11
12 Definition of Evolution Evolution is a process that results in heritable changes in a population spread over many generations
13 Evolution and Birth Defects Birth defects are suppose to happen Birth defects can be advantageous Birth defects can be deleterious In search of individuality Birth defects can be silent
14
15 Mutated mir-96 gene 14 April Chrissie Giles 15
16 Stage12-4 th week of gestation
17 Embryology of the ear placode Images of the lateral view of the human embryonic head from week 5(stage 14) through to week 8(stage 23)
18 RNA in situ hybridization of Pds in noncochlear regions of the mouse inner ear. Everett L A et al. PNAS 1999;96: by National Academy of Sciences
19 Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss Kemal O. Yariz, et al. AJHG Volume 91, Issue 5, 2 November 2012, Pages
20 Newborn mice lacking the Slitrk6 gene (right) have severe reductions in the numbers of nerve fiber bundles innervating the inner ear compared to wild-type animals (left).
21 The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear
22 Cochlea and Kidney a genetic relationship
23 Statoacustic ganglion Otocyst Basal turn of the cochlea Tip of digits Vibrissae Nasal/Oral epithelia Amniotic membrane
24 Multi-system gene expression: 30,000 genes
25 A systems Biology of early mouse inner ear organogenesis: gene expression, patterns, networks and pathways. Samin Ahmed Sajan, PhD. University of Washington, May 2008
26 An inner ear gene expression database. Chen ZY, Corey DP Assoc Res Otolaryngol Jun;3(2): Neurology Service, Massachusetts General Hospital, Boston 02114, USA. Microarray technology Mouse cochleas were examined at two developmental stages (P2 and P32) using GeneChip oligonucleotide arrays > 10,000 genes were found to be expressed in the cochlea
27 Gene Function and Hearing Developmental Time Gene Expression Gene Expression Transformation Gene Regulation Genetic susceptibility
28 Identifying Infants with Hearing Loss Undetected hearing loss can delay speech and language development All states and U.S. territories also have established Early Hearing Detection and Intervention (EHDI) programs
29 Infant Hearing Loss
30 Hearing Loss
31 Case 5 - CATSHL Camptodactyly Tall Stature Congenital bone abnormalities Congenital hearing loss diagnosed as isolated nonsyndromic at birth (moderate bilateral SNHL) Toydemir, et al. A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome, AJHG 2006; 79, 5 31
32 32 Mutation in FGFR3 (1862G A): CATSHL syndrome
33 RB
34 RB
35 CATSHL syndrome Mutation in the FGFR3 gene Chromosome 4
36 ENT Medical Work UP ABR testing - moderate CHL right and normal hearing left CT scan of temporal bones - bilateral dysplasia of bony labyrinths - normal cochleae, IACs, vestibular acqueducts, and ossicles - Possible anomaly of right facial nerve Testing for Pendred Syndrome - Insurance company rejected testing unless recommended by Medical Genetics Referral to Genetics
37 Medical Genetics Findings 1. Cervical fusion fusion of C1- C2, retrolisthesis of C3 on C4, C6 and C7 fusion 2. Facial asymmetry 3. Speech/language delay 4. Hand and arm anomalies 5. DX: Klippel Feil Syndrome 6. No Genetic testing needed
38 Klippel-Fiel Syndrome Most Common Associated Abnormalities Anomaly Percentage of Patients Congenital scoliosis > 50 % Rib abnormalities (excluding cervical ribs) 33% Deafness 30% Genitourinary abnormalities 25-35% Sprengel s deformity 20-30% Synkinesia 15-20% Cervical Ribs 12-15% Cardiovascular abnormalities 4-29% Tracy, M.R, Dormans, J.P., and Kusumi, P. Klippel-Fiel Syndrome, Clinical Orthopaedics and Related Research, 2004.
39 Hearing Loss
40 Clinical Application
41 Genetic Testing vs. Genetic Evaluation
42 Iris Colobomas Cat-Eye syndrome Preauricular tags/pits Stenotic ear canals 22q deletion Mixed Hearing loss 42
43 Robin Sequence Micrognathia Cleft palate Apnea 43
44 Stickler Syndrome -Micrognathia -Hypermobility -Mixed hearing loss -Mutation in Collagen gene
45 Clefting 45 Cleft lip/palate Van Der Wood syndrome
46 Genetic Testing:
47 Genetic Evaluation: Dysmorphology Exam Team agrees on Isolated hearing loss Hearing loss + recognizable syndrome Hearing loss + other findings but not recognizable syndrome 1. Otochip 2. Clinical Follow up 3. Metabolic testing 1. Targeted gene testing 2. Clinical Follow up 3. Management of comorbidity 1. Microarray analysis 2. Karyotype 3. Exome Sequencing
48
49
Special Needs. Establishment of a System. Special Needs. The New Genetics: Concepts We should know. Family. Friends. School. Community.
The New Genetics: Concepts We should know Special Needs Used in clinical diagnostic and functional development to describe individuals who require assistance medical, mental, or psychological areas Luis
G. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics
G. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics One of every 500 newborns has bilateral permanent sensorineural hearing loss 40 db which makes it the most common
Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL
Objectives Role of Medical Genetics in Hearing Loss Evaluation Millan Patel, MD UBC Dept. of Medical Genetics October 22, 2010 Case presentation to illustrate importance of defining syndromic hearing loss
Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida
Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida 60% of childhood hearing loss is genetic Syndromic Nonsyndromic 40% of childhood hearing
DURATION OF HEARING LOSS
When your child is diagnosed with a hearing loss, it may be very overwhelming. This may be a difficult time for you and your family. However, gaining a greater knowledge in this area is crucial in helping
Patient Information. for Childhood
Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood
BEST PRACTICES Pediatric Bilateral Sensorineural Hearing Loss
BEST PRACTICES Pediatric Bilateral Sensorineural Hearing Loss Christina L. Runge, PhD, CCC-A Associate Professor Chief, Division of Communication Sciences Director, Koss Cochlear Implant Program Resources
So, how do we hear? outer middle ear inner ear
The ability to hear is critical to understanding the world around us. The human ear is a fully developed part of our bodies at birth and responds to sounds that are very faint as well as sounds that are
About The Causes of Hearing Loss
About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby s genes) or non-genetic (such as certain infections
EXECUTIVE SUMMARY OF JOINT COMMITTEE ON INFANT HEARING YEAR 2007 POSITION STATEMENT. Intervention Programs
EXECUTIVE SUMMARY OF JOINT COMMITTEE ON INFANT HEARING YEAR 2007 POSITION STATEMENT Principles and Guidelines for Early Hearing Detection and Intervention Programs The Joint Committee on Infant Hearing
a guide to understanding pierre robin sequence
a guide to understanding pierre robin sequence a publication of children s craniofacial association a guide to understanding pierre robin sequence this parent s guide to Pierre Robin Sequence is designed
Questions and Answers for Parents
Questions and Answers for Parents There are simple, inexpensive tests available to detect hearing impairment in infants during the first days of life. In the past, most hearing deficits in children were
Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina
Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological
Congenital Hearing Loss
Congenital Hearing Loss A resident asks... Why would a primary care physician want to know about the genetics of hearing loss? Key Points: Newborn screening for hearing loss is being implemented in many
Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics
Session # : 46 Day/Time: Friday, May 1, 2015, 1:00 4:00 pm Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics Presenter: Kathleen S. Arnos, PhD, Gallaudet University This presentation
CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA
CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:
1/26/2011. 50% of deafness and hearing impairment is avoidable through prevention, early diagnosis, and management.
Hearing Impairment Roseann Mulligan, DDS, MS Herman Ostrow School of Dentistry of the University of Southern California 1 JAMA, July 4, 2007 Vol 298, No. 1 2 278 million - moderate to profound bilateral
Why does my child have a hearing loss?
Introduction This factsheet will tell you about the range of tests that can be carried out to try to find the cause of your child s hearing loss. The process to find out why a child is deaf is sometimes
Usher Syndrome Genetics
Usher Syndrome Genetics October 2012 Page 1 of 20 Introduction Usher syndrome is a genetic or inherited condition that affects hearing, vision and balance The sight loss is caused by an eye condition known
Genetic Aspects of Mental Retardation and Developmental Disabilities
Prepared by: Chahira Kozma, MD Associate Professor of Pediatrics Medical Director/DCHRP Kozmac@georgetown.edu cck2@gunet.georgetown.edu Genetic Aspects of Mental Retardation and Developmental Disabilities
Overview of Genetic Testing and Screening
Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is
Corporate Medical Policy Genetic Testing for Hereditary Hearing Loss
Corporate Medical Policy Genetic Testing for Hereditary Hearing Loss File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_hereditary_hearing_loss 10/2013 8/2015 8/2016
Policy Product Variations Description/Background Rationale Definitions Benefit Variations Disclaimer Coding Information References Policy History
Original Issue Date (Created): 4/1/2014 Most Recent Review Date (Revised): 11/24/2015 Effective Date: 2/1/2016 Policy Product Variations Description/Background Rationale Definitions Benefit Variations
DIAGNOSIS, GENETICS AND PRENATAL DIAGNOSIS IN CHARGE Meg Hefner, M.S. Genetic Counselor and Assistant Professor of Pediatrics, Division of Medical Genetics, St. Louis University School of Medicine, 1465
GONCA SENNAROĞLU PhD LEVENT SENNAROĞLU MD. Department of Otolaryngology Hacettepe University ANKARA, TURKEY
GONCA SENNAROĞLU PhD LEVENT SENNAROĞLU MD Department of Otolaryngology Hacettepe University ANKARA, TURKEY To present the audiological findings and rehabilitative outcomes of CI in children with cochlear
Hearing Screening Coding Fact Sheet for Primary Care Pediatricians
Hearing Screening Coding Fact Sheet for Primary Care Pediatricians While coding for hearing screening is relatively straightforward, ensuring that appropriate payment is received for such services is a
Understanding Hearing Loss 404.591.1884. www.childrensent.com
Understanding Hearing Loss 404.591.1884 www.childrensent.com You just found out your child has a hearing loss. You know what the Audiologist explained to you, but it is hard to keep track of all the new
PUBLIC HEALTH IMPROVEMENT PARTNERSHIP
PUBLIC HEALTH IMPROVEMENT PARTNERSHIP PUBLIC HEALTH ACTIVITIES & SERVICES INVENTORY TECHNICAL NOTES HEALTHY FAMILY DEVELOPMENT Nurse-Family Partnership Nurse-Family Partnership is a voluntary program of
University of Cincinnati and Cincinnati Children s Hospital Medical Center. Genetic Counseling Program M.S.
University of Cincinnati and Cincinnati Children s Hospital Medical Center Genetic Counseling Program M.S. What is genetic counseling? Genetic counseling is the process of helping people understand and
CONGENITAL HEARING LOSS
CONGENITAL HEARING LOSS Congenital hearing loss, for the purposes of this fact sheet, is defined as permanent and is bilateral or unilateral, is sensory or conductive, and averages 30 db or more in the
Medicaid Disability Manual
Part B The following sections apply to individuals under age 18. If the criteria in Part B do not apply, Part A criteria may be used when those criteria give appropriate consideration to the effects of
Hearing Tests for Children with Multiple or Developmental Disabilities by Susan Agrawal
www.complexchild.com Hearing Tests for Children with Multiple or Developmental Disabilities by Susan Agrawal Hearing impairment is a common problem in children with developmental disabilities or who have
UNIT 13 (OPTION) Genetic Abnormalities
Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty
Guide for families of infants and children with hearing loss
With early detection, Early Intervention can begin! Guide for families of infants and children with hearing loss Birth to 3 2008 Cover photograph Geneva Marie Durgin was born January 20, 2007. She lives
THE EYES IN CHARGE: FOR THE OPHTHALMOLOGIST Roberta A. Pagon, M.D. Division of Medical Genetics, CH-25, Children's Hospital /Medical Center, Box C5371, Seattle, WA 98105-0371 bpagon@u.washington.edu (206)
a guide to understanding moebius syndrome a publication of children s craniofacial association
a guide to understanding moebius syndrome a publication of children s craniofacial association a guide to understanding moebius syndrome this parent s guide to Moebius syndrome is designed to answer questions
DISCUSSION TOPICS. Embryology Etiology Presentation Associated Anomalies Classification Management
MICROTIA Emily Tignor, MD Faculty Advisor: Shraddha Mukerji, MD The University of Texas Medical Branch Department of Otolaryngology Grand Rounds Presentation October 30, 2013 DISCUSSION TOPICS Embryology
DISABILITY-RELATED DEFINITIONS
DISABILITY-RELATED DEFINITIONS 1. The Americans with Disabilities Act (ADA) of 1990 is a civil rights law, which makes it unlawful to discriminate on the basis of disability. It covers employment in the
Insurance Tips. Obtaining Services
Insurance Tips The information below is designed to provide an overview of how to obtain insurance coverage for speech-language pathology (speech therapy) and audiology services. The American Speech-Language-Hearing
Presbycusis. What is presbycusis? What are the symptoms of presbycusis?
Presbycusis What is presbycusis? Presbycusis is the loss of hearing that gradually occurs in most individuals as they grow older. Hearing loss is a common disorder associated with aging. About 30-35 percent
Coding Fact Sheet for Primary Care Pediatricians
1/1/2015 Hearing Testing Coding Fact Sheet Coding Fact Sheet for Primary Care Pediatricians While coding for hearing screening is relatively straightforward, ensuring that appropriate payment is received
Health Reform Minnesota. Health Care Home Care Coordination Tiering-Billing Workshop October 1, 2014
Health Reform Minnesota Health Care Home Care Coordination Tiering-Billing Workshop October 1, 2014 Objectives Gain a better understanding of how to use the HCH Care Coordination Tier Assignment tool for
Cerebral Palsy. 1995-2014, The Patient Education Institute, Inc. www.x-plain.com nr200105 Last reviewed: 06/17/2014 1
Cerebral Palsy Introduction Cerebral palsy, or CP, can cause serious neurological symptoms in children. Thousands of children are diagnosed with cerebral palsy every year. This reference summary explains
Guidelines for Medical Necessity Determination for Speech and Language Therapy
Guidelines for Medical Necessity Determination for Speech and Language Therapy These Guidelines for Medical Necessity Determination (Guidelines) identify the clinical information MassHealth needs to determine
COCHLEAR NERVE APLASIA : THE AUDIOLOGIC PERSPECTIVE A CASE REPORT. Eva Orzan, MD Pediatric Audiology University Hospital of Padova, Italy
COCHLEAR NERVE APLASIA : THE AUDIOLOGIC PERSPECTIVE A CASE REPORT Eva Orzan, MD Pediatric Audiology University Hospital of Padova, Italy Congenital absence or underdevelopment of the cochlear nerve has
Unilateral (Hearing Loss in One Ear) Hearing Loss Guidance
Unilateral (Hearing Loss in One Ear) Hearing Loss Guidance Indiana s Early Hearing Detection and Intervention Program Before universal newborn hearing screening, most children with unilateral hearing loss
Deafblind syndromes, diagnostic tools and treatment
Deafblind syndromes, diagnostic tools and treatment Claes Möller Department of Audiology Örebro University Hospital Confusion Why is my child deaf? Why is my child clumsy? Why has my child problems at
Congenital Anomalies In Diamond Blackfan Anemia (DBA)
Congenital Anomalies In Diamond Blackfan Anemia (DBA) CS217857 National Center on Birth Defects and Developmental Disabilities Division of Blood Disorders Congenital Anomalies In Diamond Blackfan Anemia
Getting Started Kei Te Timata
Getting Started Kei Te Timata AN INTRODUCTION FOR THE FAMILIES AND WHANAU OF CHILDREN DIAGNOSED WITH A HEARING LOSS. THIS IS A JOINT PROJECT BY DEAF EDUCATION AOTEAROA NEW ZEALAND AND THE NATIONAL AUDIOLOGY
Introduction. Defining comorbidities. Introduction. Defining comorbidities. Defining comorbidities 9/5/2013
Introduction YOUNG CHILDREN WITH HEARING LOSS AND ADDITIONAL/ MULTIPLE DISABILITIES Talita le Roux Department of Communication Pathology University of Pretoria 7 September 2013 CHRIB seminar I just didn
23. TERATOGENS AND THEIR EFFECTS
23. TERATOGENS AND THEIR EFFECTS Wendy Chung, M.D. Ph.D. Telephone: 851-5313 e-mail: wkc15@columbia.edu SUMMARY A congenital malformation is an anatomical or structural abnormality present at birth. Congenital
Allied, Therapeutic and Psychology Extender Benefit
Allied, Therapeutic and Psychology Extender Benefit 2013 The Allied, Therapeutic and Psychology Extender Benefit is available on the Enhanced Option only. Overview This document tells you about the Allied,
Influences on Birth Defects
Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There
Chromosomal Abnormalities
Chromosomal Abnormalities George E Tiller, MD, PhD Regional Chief, Dept. Genetics Southern California Permanente Medical Group Los Angeles, CA Objectives of Lecture list several indications for karyotyping
Genetic Testing for Hereditary Hearing Loss
MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Genetic Testing for Hereditary Hearing Loss Number 12.04.87 Effective
Cerebral palsy can be classified according to the type of abnormal muscle tone or movement, and the distribution of these motor impairments.
The Face of Cerebral Palsy Segment I Discovering Patterns What is Cerebral Palsy? Cerebral palsy (CP) is an umbrella term for a group of non-progressive but often changing motor impairment syndromes, which
Allied, Therapeutic and Psychology Extender Benefit
Allied, Therapeutic and Psychology Extender Benefit 2015 Allied, Therapeutic and Psychology Extender Benefit The Allied, Therapeutic and Psychology Extender Benefit is available on the Executive and Comprehensive
Ulrika Löfkvist, Ass.Professor, SLP, LSLS cert. AVEd University of Oslo Arvika, 2016-05-13
Medfödd Cytomegalovirusinfektion inte bara en vanlig orsak till hörselnedsättning utan även balanssvårigheter och kognitiva funktionsnedsättningar Ulrika Löfkvist, Ass.Professor, SLP, LSLS cert. AVEd University
Less common vestibular disorders presenting with funny turns
Less common vestibular disorders presenting with funny turns Charlotte Agrup, Department of Neuro-otology, The National Hospital for Neurology and Neurosurgery, London Making the diagnosis Making the diagnosis
Genetic Testing for Hearing Loss
Genetic Testing for Hearing Loss S H O B A N A K U B E N D R A N, M B B S, M S, C G C G E N E T I C C O U N S E L O R A S S T P R O F E S S O R D E P T O F P E D I A T R I C S K U S M - W Objectives Indications
Education Adjustment Program (EAP) Handbook
Education Adjustment Program (EAP) Handbook Current as at September 2015 The State of Queensland (2015) This document is licensed under CC-BY 4.0, with the exception of the government coat of arms, logos
SEMI-IMPLANTABLE AND FULLY IMPLANTABLE MIDDLE EAR HEARING AIDS
Coverage for services, procedures, medical devices and drugs are dependent upon benefit eligibility as outlined in the member's specific benefit plan. This Medical Coverage Guideline must be read in its
Cerebral Palsy. In order to function, the brain needs a continuous supply of oxygen.
Cerebral Palsy Introduction Cerebral palsy, or CP, can cause serious neurological symptoms in children. Up to 5000 children in the United States are diagnosed with cerebral palsy every year. This reference
The Craniofacial Team
Gillette Center of Excellence The Craniofacial Team at the Center for Craniofacial Services Robert Wood, M.D. Medical Director Robert Wood, M.D., is a craniofacial surgeon and the medical director of the
SENSORINEURAL HEARING LOSS INVESTIGATION & REFERRAL
Epidemiology NZ Hearing Screening Referral Pathway Important Services When to Investigate Initial Assessment Referrals Investigations Indications for Cochlear Transplant Acknowledgements References Epidemiology
Mendelian inheritance and the
Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate
CHILDREN S NEUROSCIENCE CENTER
CHILDREN S NEUROSCIENCE CENTER W hen families come to Children s Memorial Hermann Hospital, they expect to find the technological advances and healing expertise of a university-affiliated, academic hospital.
22/02/2015. Possible causes. Decisions decisions decisions. Challenging eye and ear conditions at underwriting and claim stage Dr Maritha van der Walt
Challenges Underwriting symptoms rather than conditions- tinnitus, vertigo, blurred vision Requests for narrower rather than broad exclusions and consequences Pre existing condition and unrelated claims
Universal newborn hearing screening: the experience of the University Hospital of Parma
Acta Biomed 2015; Vol. 86, N. 3: 273-277 Mattioli 1885 Original article Universal newborn hearing screening: the experience of the University Hospital of Parma Cinzia Magnani 1, Giovanna Bacchi 2, Anna
Child Abuse or Osteogenesis Imperfecta?
Child Abuse or Osteogenesis Imperfecta? 804 W. Diamond Ave., Ste. 210 Gaithersburg, MD 20878 (800) 981-2663 (301) 947-0083 Fax: (301) 947-0456 Internet: www.oif.org Email: bonelink@oif.org The Osteogenesis
Documents Eligible to Earn Added Authorizations in Special Education (AASE) UPDATED 6/2012
Documents Eligible to Earn Added Authorizations in Special Education (AASE) UPDATED 6/2012 Credential Held Autism Spectrum Disorders (ASD) Deaf- Blind Emotional Disturbance Orthopedic Impairment Other
Learners Who are Deaf or Hard of Hearing Kalie Carlisle, Lauren Nash, and Allison Gallahan
Learners Who are Deaf or Hard of Hearing Kalie Carlisle, Lauren Nash, and Allison Gallahan Definition Deaf A deaf person is one whose hearing disability precludes successful processing of linguistic information
Developmental delay and Cerebral palsy. Present the differential diagnosis of developmental delay.
Developmental delay and Cerebral palsy objectives 1. developmental delay Define developmental delay Etiologies of developmental delay Present the differential diagnosis of developmental delay. 2. cerebral
CIRCULAR TO BOARDS OF MANAGEMENT AND PRINCIPAL TEACHERS OF NATIONAL SCHOOLS
Circular SP.ED 08/02 CIRCULAR TO BOARDS OF MANAGEMENT AND PRINCIPAL TEACHERS OF NATIONAL SCHOOLS Applications for full-time or part-time resource teacher support to address the special education needs
Optional Tests Offered Before and During Pregnancy
Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth
Comprehensive Special Education Plan. Programs and Services for Students with Disabilities
Comprehensive Special Education Plan Programs and Services for Students with Disabilities The Pupil Personnel Services of the Corning-Painted Post Area School District is dedicated to work collaboratively
The NeurOmics team at a recent project meeting
Introduction Welcome to the NeurOmics project newsletter. This is the second edition and comes after the project has been underway for just over a year. This means that whilst we still have lots of work
Single Gene and NextGen Panels
Molecular Testing for Hearing Loss: Single Gene and NextGen Panels Honey V Reddi, PhD, FACMG Clinical Molecular Geneticist Prevention Genetics, Marshfield, WI www.preventiongenetics.com Outline of Presentation
Preparation "Speech Language Pathologist Overview"
Speech Language Pathologist Overview The Field - Preparation - Day in the Life - Earnings - Employment - Career Path Forecast - Professional Organizations The Field Speech-language pathologists, sometimes
ORANGE COUNTY CARE COORDINATION COLLABORATIVE FOR KIDS
ORANGE COUNTY CARE COORDINATION COLLABORATIVE FOR KIDS Trend Report June 2013 Prepared by: Lisa Burke, MS Burke Consulting Rebecca Hernandez, MSEd Help Me Grow Orange County Support for OC C3 for Kids
THE EARS IN CHARGE FOR THE PHYSICIAN Sandra L.H. Davenport, M.D. SensoryGenetic/Neuro-development, 5801 Southwood Drive, Bloomington MN 55437-1739 952-831-5522 slhdaven@tc.umn.edu Udayan K. Shah, M.D.
EARLY HEARING DETECTION & INTERVENTION PROGRAM
Commissioner J. Robert Galvin, MD, MPH, MBA EARLY HEARING DETECTION & INTERVENTION PROGRAM Guidelines For Infant Hearing Screening Revised 2008 Early Hearing Detection & Intervention TABLE OF CONTENTS
Static Encephalopathy A Basis Explanation for Parents
Static Encephalopathy A Basis Explanation for Parents Nancy J. Hitzfelder, M.D. Medical Director July 1999 This article may not be copied without the express written permission of Easter Seals of Greater
NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1
NORD Guides for Physicians #1 The National Organization for Rare Disorders Physician s Guide to Tyrosinemia Type 1 The original version of this booklet was made possible by donations in honor of Danielle
Position Classification Standard for Speech Pathology and Audiology Series, GS-0665
Position Classification Standard for Speech Pathology and Audiology Series, GS-0665 Table of Contents SERIES DEFINITION... 2 EXCLUSIONS... 2 COVERAGE OF THE SERIES... 3 COVERAGE OF THE STANDARD... 4 OCCUPATIONAL
Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.
AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.
Neurofibromatosis Type 2: Information for Patients & Families by Mia MacCollin, M.D., Catherine Bove, R.N. Ed. & M. Priscilla Short, M.D.
Neurofibromatosis Type 2: Information for Patients & Families by Mia MacCollin, M.D., Catherine Bove, R.N. Ed. & M. Priscilla Short, M.D. Neurofibromatosis Type 2 is a rare genetic disease, which causes
Birth Defects and Prenatal Diognosis. Assoc. Prof. E. Elif Güzel, MD
Birth Defects and Prenatal Diognosis Assoc. Prof. E. Elif Güzel, MD Birth Defects Structural, behavioral, functional, metabolic disorders present at birth Leading cause of infant mortality (%25) Importance
Birthplace: Nashville, TN DOB: January 26, 1960 Children: James Davidson (10/31/91) Christian Michael (12/15/93)
Karen Horton Harum, M.D. Neurodevelopmental Pediatrician Clinic for Special Children 5725 Oleander Drive Suite C1 Wilmington, NC 28403 Office: (910) 319-7744 Fax: (910) 319-7754 Cell: (910) 431-4923 www.clinicforspecialchildren.net
What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives
What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks
People First Language. Style Guide. A reference for media professionals and the public
People First Language Style Guide A reference for media professionals and the public What is People First Language? People First Language (also referred to as Person First ) is an accurate way of referring
CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring?
CCS - Does CCS provide Counseling or Support Services? CCS - Are there any costs to me? CCS - What papers should I bring? CCS - What are the steps to CCS services? CCS - How is my privacy protected? CCS
ALBINISM. Other Common Names. Causes/Etiology. Incidence. Characteristics. Hypopigmentation
ALBINISM Other Common Names Hypopigmentation Causes/Etiology Incidence Most types of albinism are inherited when a child receives the albinism gene from both parents. There is an exception with one type
Infant hearing screening will not hurt your baby, and will only take between 5 and 20 minutes. Ideally it is done whilst baby is asleep or settled.
Early diagnosis of hearing loss will make a difference to your baby s life. Significant hearing loss is the most common condition present at birth. In the private sector, 3 in every 1000 babies are born
Practice Test for Special Education EC-12
Practice Test for Special Education EC-12 1. The Individualized Educational Program (IEP) includes: A. Written evaluation B. Assessment tests C. Interviews 2. Learning disabilities include: A. Cerebral
Audiology (0340) Test at a Glance. About this test. Test Guide Available. See Inside Back Cover. Test Code 0340
Audiology (0340) Test Guide Available See Inside Back Cover Test at a Glance Test Name Audiology Test Code 0340 Time 2 hours Number of Questions 150 Format Multiple-choice questions Approximate Approximate
Evaluation and Assessment and Eligibility Regulations 2011
303.10 Developmental delay. As used in this part, developmental delay, when used with respect to an individual residing in a State, has the meaning given to that term under 303.300. 303.10 Developmental
Genetic Hearing Loss
Genetic Hearing Loss Stephanie Cordes, MD Faculty Advisor: Norman Friedman, MD The University of Texas Medical Branch Department of Otolaryngology Grand Rounds Presentation April 2000 Introduction Deafness
Molecular Genetic Testing in Public Health and Clinical Settings
Molecular Genetic Testing in Public Health and Clinical Settings Ira M. Lubin, PhD, FACMG Division of Laboratory Systems NCPDCID, CCID Centers for Disease Control and Prevention Atlanta, Georgia Disclaimers
Mental Retardation Counsellor. Introduction to Exceptional Children
^ROGRAri: COURSE TITLE: COURSE NUMBER INSTRUCTOR: Mental Retardation Counsellor Introduction to Exceptional Children MRC 101 Karen Cameron 1980 PART I Course Philosophy In the field of Mental Retardation