CHARGE Syndrome.

Intro -- CHAPTER 1 Overview and Sensory Issues SANDRA L. H. DAVENPORT, M.D. AND MARGARET A. HEFNER, M.S.   Humans have receptors for five "input" senses, which allow access to external stimuli, namely vision, hearing, smell, touch, and taste. In addition, the body has other receptors that allow the body to recognize its position in space and in relation to itself, namely vestibular and proprioceptive senses. In CHARGE syndrome, all seven of these senses may be affected. Vision, hearing, smell, and balanc -- CHAPTER 2The Eye and Vision LEA HYVÄRINEN, M.D.   One of the cardinal features of CHARGE syndrome is ocular coloboma, which is a defect in the development of the eye between weeks 5 and 7 of gestation. Colobomas cause defects in the visual field and often lower than normal visual acuity. EARLY DEVELOPMENT OF THE RETINA The optic nerves and retina of the eyes are extensions of the brain. First, finger-like structures develop, one on each side of the neural tube (the embryonic precursor to the cen -- CHAPTER 3Hearing JAMES W. THELIN, PH.D.   AUDIOLOGIC ISSUES In CHARGE syndrome, hearing, balance, and mobility are related to patterns of structural anomalies of the auditory, vestibular, and visual systems. Some patterns of anomalies are common across individuals, but the group of deficits for an individual can be unique. It is of great value to an individual with CHARGE if the persons who provide care or services understand an individual's specific deficits and challenges. The purpose of the f.

CHAPTER 4Overview of Balance and the Vestibular System CLAES MÖLLER, M.D., PH.D.   The ability to walk upright on two legs and keep equilibrium is dependent on the integrity of a complex system consisting of three major receptor organs: the vestibular, the visual, and the somatosensory systems (see Color Plate 6). The impulses from the vestibular (labyrinth) part of the inner ear, the eyes, and the stimuli from skin muscles, tendons, and joints (somatosensory) are so harmoniously balanced that, -- CHAPTER 5Consequences of Vestibular Dysfunction DAVID M. BROWN, M.A., D.SC. (HON)   Of all the many sensory impairments associated with CHARGE syndrome, absence of, or significant damage to, the vestibular sense is perhaps the most far-reaching in its implications, the least understood, and often the most overlooked. If people have any idea at all what the term "vestibular sense" means, they usually think that it relates to only the development of good balance, and so they might assume that vest -- CHAPTER 6Balance and Mobility JAMES W. THELIN, PH.D., SARAH E. CURTIS, AU.D., JILL FUSSNER MADDOX, AU.D., AND LORI S. TRAVIS, AU.D.   The anomalies that typically are present in children with CHARGE syndrome often result in the delay of the development of balance and mobility. The causes for these delays may include the following factors: Bilateral aplasia or dysplasia of the semicircular canals of the vestibular mechanism Visual impairment due to ocular colobomas or other anomalies Orthopedic d.

CHAPTER 7Smell: The Olfactory System VÉRONIQUE ABADIE, M.D., PH.D., CHRISTEL CHALOUHI, M.D., PATRICK FAULCON, M.D., AND PIERRE BONFILS, M.D., PH.D.   ANATOMY AND EMBRYOLOGY Development of the olfactory system begins very early in the human embryo. Olfactory bulbs have their definitive structure at day 56 (Bossy, 1980). Cells of the olfactory placode (thickening in the embryonic tissue) then differentiate to gonadotropinic cells and migrate to the hypothalamic region of the brain along the termin -- CHAPTER 8Otologic Issues SWAPNA K. CHANDRAN, M.D., AND UDAYAN K. SHAH, M.D.   INTRODUCTION External ear anomalies and hearing loss have long been recognized as cardinal features of CHARGE syndrome. Revised diagnostic criteria include the prevalence of anomalies in every area of the ear -- external ear, hearing, balance, and facial nerve disorders are all seen as components of CHARGE syndrome. ANATOMY OF A NORMAL EAR The external ear is divided into the pinna, or auricle, and the external auditory -- CHAPTER 9Cochlear Implantation N. WENDELL TODD, M.D., M.P.H.   INTRODUCTION As the hearing impairment in CHARGE is often at least partially sensorineural, cochlear implantation (CI) is a consideration for many children with CHARGE, but each patient is to be especially regarded. The comparatively small external ear canals restrict visualization of the tympanic membrane, cause difficulties in performing physiologic audiologic tests, and create problems in fitting hearing aid ear molds. Moreover, t.

CHAPTER 10Rhinologic (Nasal) Issues CHRISTOPHER R. GRINDLE, M.D., AND UDAYAN K. SHAH, M.D.   INTRODUCTION CHARGE syndrome includes a predisposition to a variety of rhinologic issues. Patients with CHARGE have altered nasal, skull base, and oral anatomy that may contribute significantly to rhinologic disease. Examples of this include choanal atresia/choanal stenosis, cleft palate, adenoid hypertrophy, upper airway obstruction, and sinusitis (Coniglio, Manzione, &amp -- Hengerer, 1988). CASE 1 Case 1 wa -- CHAPTER 11 Airway MICHAEL J. RUTTER, M.D., FRACS, JEREMY D. PRAGER, M.D., AND EVAN J. PROPST, M.D.   Although the CHARGE acronym and the diagnostic criteria specifically identify choanal atresia as the only airway anomaly, clinicians with experience in managing patients with CHARGE almost always identify at least one other airway anomaly. This chapter begins with an overview of these anomalies and briefly describes pertinent airway issues, relevant diagnostic investigations, and the clinical man -- CHAPTER 12 Feeding Issues JOAN ARVEDSON, PH.D.   Feeding and swallowing difficulties are common in infants and children with CHARGE syndrome. These difficulties vary considerably in type and severity as expected given the wide range of combinations of signs and symptoms in individuals with CHARGE syndrome (Blake, Hartshorne, Lawand, Dailor, &amp -- Thelin, 2008 -- Blake &amp -- Prasad, 2006 -- Stromland et al., 2005). Multiple cranial nerve deficits are fundamental to the swallowing problems in infancy and may.

CHAPTER 13 Neurodevelopment ELIZABETH GILLES, M.D.   NEUROLOGIC ISSUES Neurologic findings in CHARGE syndrome run the gamut from developmental delay, cranial nerve dysfunction, epilepsy, sleep disorders, and behavioral problems to cognitive/executive function deficits. Seizures and Epilepsy Seizures occur in some children with CHARGE, and some develop epilepsy (recurrent unprovoked seizures). A seizure essentially is a transient event caused by abnormal brain electrical activity resulting in inv -- CHAPTER 14 The Heart of CHARGE or Congenital Heart Defects in CHARGE Syndrome ANGELA E. LIN, M.D., AND DANIELA BAUMGARTNER, M.D.   Congenital heart defects are important features of CHARGE syndrome because of their frequent occurrence, implications for medical management, role in determining prognosis, and potential insight into developmental mechanisms. Their anatomic diversity ranges from the simplicity of a hole in the septum dividing the atria and/or ventricles to the complexity of a defect -- CHAPTER 15 Renal and Urinary Systems MARC S. WILLIAMS, M.D.   THE NORMAL URINARY TRACT The normal urinary tract consists of two kidneys. Urine is produced in the kidney and is drained by the renal pelvis. Urine then flows into the ureters. These tubes drain into the urinary bladder. When we urinate, the urine travels through another tube called the urethra. This tube is very short in females and longer in males (as it has to travel through the length of the penis). Normally, urine flows in only.

CHAPTER 16 Endocrinology JEREMY KIRK, M.D.   Children with CHARGE syndrome often have problems with growth, puberty, or both. Careful evaluation, monitoring, and management is very important. NORMAL GROWTH Growth of a child occurs in three separate phases, which merge into each other, but which are under different controls, both hormonal and nutritional (Figure 16-1). All of these are affected in CHARGE syndrome. Infantile phase: This occurs during the first two to three years of life and is a c.

CHARGE syndrome affects approximately 1:10,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. This, the first published book on the subject, describes the sensory, physical, and behavioral findings in CHARGE, indicates what kinds of studies need to be done to confirm the findings, and describes how these findings affect the function and development of the individual with CHARGE.

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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.