Rett Syndrome – Chapter 3: The Clinical Genetics of Rett Syndrome (ebook)
This chapter is part of Rett Syndrome
Product Type: PDF (Sub-Section of Book)
Series: Clinics in Developmental Medicine
Edition: 1st
Publication date: September 2017
Page count: 17
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Chapter 3 – The Clinical Genetics of Rett Syndrome
Pediatricians are usually the clinicians who first encounter a child with suspected Rett syndrome (RTT) on their journey to a diagnosis. Once they reach the clinical geneticist, many of the primary investigations have already been carried out and the family will have often already been given the diagnosis by the pediatrician or the pediatric neurologist. The family will attend the genetics clinic for further information about the clinical aspects of RTT, its pattern of inheritance, and the recurrence risks.
About the book
Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant. Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.
- Full book contents
- AUTHORS’ APPOINTMENTS
- FOREWORD
- PREFACE
- A TRIBUTE TO BENGT HAGBERG, ALAN PERCY
- PROLOGUE: PERSONAL PERSPECTIVE BENGT HAGBERG, ALISON KERR AND KATHY HUNTER
- 1. THE DIAGNOSIS OF RETT SYNDROME, WALTER E KAUFMANN AND JEFFREY L NEUL
- 2. THE NATURAL HISTORY OF RETT SYNDROME: BUILDING ON RECENT EXPERIENCE, ALAN PERCY AND DANIEL GLAZE
- 3. THE CLINICAL GENETICS OF RETT SYNDROME, ANGUS CLARKE, HAYLEY ARCHER AND JOHN CHRISTODOULOU
- 4. GENETIC SOURCES OF VARIATION IN RETT SYNDROME, JEFFREY L NEUL, HELEN LEONARD, ALESSANDRA RENIERI, SONIA BROWER AND FRANCESCA MARI
- 5. COGNITION, BEHAVIOUR AND COMMUNICATION, LEOPOLD MG CURFS, PETER MARSCHIK, GILLIAN S TOWNEND, WALTER E KAUFMANN, ROSA ANGELA FABIO, JEFF SIGAFOOS
- 6. MOTOR ABNORMALITIES IN RETT SYNDROME, JENNY DOWNS AND TERESA TEMUDO
- 7. ORTHOPAEDIC ISSUES IN RETT SYNDROME, JENNY DOWNS, DAVID P ROYE, GORDON BAIKIE AND BRENDAN WILLIAMS
- 8. SLEEP ISSUES IN RETT SYNDROME, CAROLYN ELLAWAY, DANIEL GLAZE, SAROJINI BUDDEN AND YOSHIKO NOMURA
- 9. EPILEPSY IN RETT SYNDROME, BRURIA BEN-ZEEV, ANDREEA NISSENKORN, MARIA PINTAUDI AND DANIEL GLAZE
- 10. BREATHING ABNORMALITIES IN RETT SYNDROME, NINO RAMIREZ, CHRISTOPHER S WARD AND JEFFREY L NEUL
- 11. GROWTH, FEEDING AND NUTRITION, AND BONE HEALTH IN RETT SYNDROME,
- KATHLEEN MOTIL
- 12. MOLECULAR COMPLEXITIES OF MECP2 FUNCTION AS A MASTER EPIGENETIC REGULATOR DEFICIENT IN RETT SYNDROME, JANINE M LASALLE AND MICHAEL L GONZALES
- 13. THE NEUROBIOLOGY OF RETT SYNDROME, WALTER E KAUFMANN, JAMES H EUBANKS, MICHAEL V JOHNSTON AND MARY E BLUE
- 14. TREATMENTS FOR RETT SYNDROME: PROSPECTS FOR TARGETED THERAPIES,
- SAKKUBAI NAIDU, WENDY GOLD AND JOHN CHRISTODOULOU
- 15. REHABILITATION IN RETT SYNDROME, SAROJINI BUDDEN
- 16. PERSPECTIVES, WALTER E KAUFMANN
- INDEX
- Rett Syndrome - Chapter 16: Perspectives in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 15: Rehabilitation in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 14: Treatments for Rett Syndrome (ebook)
- Rett Syndrome - Chapter 13: The Neurobiology of Rett Syndrome (ebook)
- Rett Syndrome - Chapter 12: Molecular Complexities of MeCP2 Function in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 11: Growth, Feeding and Nutrition, and Bone Health in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 10: Breathing Abnormalities in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 9: Epilepsy in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 8: Sleep Issues in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 7: Orthopedic Issues in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 6: Motor Abnormalities in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 5: Cognition, Communication and Behavior in Individuals with Rett Syndrome (ebook)
- Rett Syndrome - Chapter 4: Genetic Sources of Variation in Rett Syndrome (ebook)
- Rett Syndrome - Chapter 3: The Clinical Genetics of Rett Syndrome (ebook)
- Rett Syndrome - Chapter 2: The Natural History of Rett Syndrome (ebook)
- Rett Syndrome - Chapter 1: The Diagnosis of Rett Syndrome (free ebook)