PDF-(BOOS)-CHARGE Syndrome, Second Edition (Genetic Syndromcs and Communication Disorders)

CHARGE syndrome occurs in approximately 11000015000 births worldwide is extremely complex and has varied medical and physical manifestations It was first described in 1979 named in 1981 and in 2004 a gene for CHARGE was identified In addition to a host of other conditions most individuals have communicationrelated problems including hearing vision balance breathing swallowing and speech. Also its possible for otherwise healthy people to develop severe illness so any one concerned about their illness should consult their doctor There are emergency warning signs that should signal anyone to seek medical care urgently Emergency Warning Introduction. There are thousands of . genetic disorders. that affect humans, some of which can have profound effects on a person's quality of life. Genetic disorders are . passed from parents to offspring in the genetic . Environmental Influence,. Sex-Linked Traits. In this presentation. Slides 3-4: . Punnett. Square. Slide 5-7: Co-Dominance and Blood-typing. Slide 8: Incomplete Dominance. Slide 9: Sex Linked Traits (X-Linked Traits). Overview. Serious health issues can occur when there are problems with an organisms DNA.. Objectives:. 1. What is a karyotype? . 2. What is nondisjunction?. 3. Distinguish between the . chromosomal alterations. autism. Dr.. Patrizia Bonaventura. Monmouth University . Department of Speech Pathology, . Educational . Counseling. and Leadership. SPEECH AND HEARING DISORDERS. SPEECH DISORDERS OCCUR. “When . a person is unable to produce speech sounds correctly or fluently, or has problems with his or her . Hereditary Nonpolyposis Colorectal Cancer HNPCCunderstanding lynch syndrome331e purpose of this booklet is to review information about Lynch syndrome also called Hereditary Nonpolyposis Colorectal Can Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . A genetic disorder that causes delays in physical and intellectual development.. Causes of Down Syndrome. Caused by extra genetic material from chromosome 21. Prenatal Testing. Amniocentesis:. procedure in which a small sample of amniotic fluid is drawn out of the uterus through a needle inserted in the abdomen. GENETIC. ENVIRONMENTAL. BOTH. CONGENITAL. HEREDITARY. FAMILAL. MUTATIONS. PERMANENT change in DNA. GENE. MUTATION: (may, and often, result in a single base error). CHROMOSOME . MUTATION: (visible chromosome change)part of chromosome. Completely revised with the latest research and clinical strategies, this is the authoritative volume on Asperger syndrome (now part of DSM-5 autism spectrum disorder). Considered the definitive reference since its initial publication, the book focuses on how to assess each child or adolescent\'s needs and provide effective interventions in the areas of communication, behavior, and academic and vocational functioning. The neural and genetic bases of autism spectrum disorders are also explored. New to This Edition*Expanded coverage of evidence-based assessment and treatment, including two chapters on behavioral interventions.*Addresses challenges in the transition to new diagnostic criteria for autism spectrum disorder in DSM-5.*Chapters on neuropsychological advances, the transition to higher education, and forensic issues.*Many new authors and extensively revised chapters. CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech-- CHARGE syndrome is thought to be caused by a mutation in the gene CHD7on chromosome #8. It occurs in 1 out of every 10,000 births and is affects males and females at equal rates and has been diagn Page 1 of 28 UnitedHealthcare Commercial Medical Policy Effecti ve 10/01/2021 Proprietary Information of UnitedHealthcare. Copyright 202 1 United HealthCare Services, Inc. UnitedHealthcareCommercia TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS. Congenital. Allele. Gene locus. Gene mutation. Genotype. Phenotype. Homozygous. Heterozygous. Polymorphism. Gene penetrance. Gene expression. CAUSES OF BIRTH DEFECTS.