Life Span Development in Genetic Disorders : Behavioral and Neurological Aspects.

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Bibliographic Details
Main Author: Verri, Annapia.
Format: eBook
Language:English
Published: New York : Nova Science Publishers, Incorporated, 2008.
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Table of Contents:
  • Intro
  • LIFE SPAN DEVELOPMENT IN GENETIC DISORDERS: BEHAVIORAL AND NEUROBIOLOGICAL ASPECTS
  • NOTICE TO THE READER
  • CONTENTS
  • INTELLIGENCE: AN OVERVIEW
  • INTRODUCTION
  • Association and Dissociation: A Rapprochement through Structural Modelling
  • The Biology of g
  • MOLECULAR GENETICS
  • REFERENCES
  • DIAGNOSTIC EVALUATION OF THE CHILDAFFECTED WITH INTELLECTUAL DISABILITY:A CLINICAL GENETIC PERSPECTIVE
  • ABSTRACT
  • INTRODUCTION
  • Some Useful Definitions
  • What is the Correct Methodological Approach to a Patient with Psychomotor or Intellectual Disability?
  • How to Arrive to the Correct Etiologic Diagnosis?
  • Laboratory Help to the Diagnostic Pathway
  • Some Open Problems
  • REFERENCES
  • BRAIN AND BEYOND THE BRAIN: THE BIOLOGICAL PROFILE OF DOWN SYNDROME
  • ABSTRACT
  • INTRODUCTION
  • Brain in DS
  • Down Syndrome: Beyond the Brain
  • REFERENCES
  • LIFE SPAN DEVELOPMENT IN TURNER SYNDROME (TS)
  • ABSTRACT
  • INTRODUCTION
  • CASE REPORT 1
  • Developmental History
  • Objective Evaluation
  • Neurophysiological and Neuroradiological Findings
  • Cognitive-Behavioral Assessment
  • DISCUSSION
  • CASE REPORT 2
  • Developmental History
  • Clinical Evaluation, Neurophysiological and Neuroradiological Findings
  • Cognitive-behavioral Assesment
  • DISCUSSION
  • REFERENCES
  • LIFE SPAN DEVELOPMENT IN KLINEFELTER SYNDROME
  • ABSTRACT
  • INTRODUCTION
  • Klinefelter Variants
  • DIAGNOSIS
  • TREATMENT
  • COMPLICATIONS
  • PROGNOSIS
  • GENETIC COUNSELING
  • REFERENCES
  • LIFE SPAN DEVELOPMENT IN XYY
  • ABSTRACT
  • INTRODUCTION
  • Clinical Description
  • Cognitive and Social Abilities
  • Psychiatric Comorbidity in XYY Syndrome
  • CLINICAL REPORT: THE CASE OF P.G.
  • Neurophysiological Evaluation
  • Neuroradiological Findings
  • Cognitive and Behavioural Assessment
  • DISCUSSION
  • REFERENCES.
  • NEUROBIOLOGICAL ADVANCES IN THE FRAGILE X FAMILY OF DISORDERS AND TARGETED TREATMENT
  • ABSTRACT
  • INTRODUCTION
  • PREVALENCE
  • CLINICAL FEATURES OF FRAGILE X SYNDROME
  • AUTISM AND FRAGILE X SYNDROME
  • CLINICAL FEATURES IN PREMUTATION CARRIERS INCLUDING FXTAS
  • TARGETED TREATMENT FOR FRAGILE X SYNDROME
  • SCREENING FOR FRAGILE X
  • ACKNOWLEDGEMENTS
  • REFERENCES
  • LIFE SPAN DEVELOPMENT IN NANCE-HORAN SYNDROME (NHS)
  • 1. ABSTRACT
  • 2. INTRODUCTION
  • 3. CASE REPORT
  • Developmental History
  • Neurophysiological and Neuroradiological Findings
  • Cognitive-Behavioural Assessment
  • Discussion
  • REFERENCES
  • IDIOPATHIC HYPOPARATHYROIDISM AND CHROMOSOME 10P DELETION
  • ABSTRACT
  • INTRODUCTION
  • CASE REPORT
  • Psychological Evalution
  • Cytogenetic Results
  • DISCUSSION
  • REFERENCES
  • LIFE SPAN DEVELOPMENT IN INTERSTITIAL DELETION CHROMOSOME 21
  • ABSTRACT
  • INTRODUCTION
  • CASE REPORT
  • Clinical and Developmental History
  • Neurological Evaluation Neuroradiological Findings
  • Cognitive Behavioral Assesment
  • DISCUSSION
  • REFERENCES
  • COGNITIVE ENRICHMENT ISSUE
  • ABSTRACT
  • INTRODUCTION
  • COGNITIVE ENRICHMENT ISSUE
  • COGNITIVE ENRICHMENT IN GENETIC SYNDROMES WITH INTELLECTUAL DISABILITY
  • REFERENCES
  • REHABILITATION ISSUES
  • ABSTRACT
  • 1. INTRODUCTION
  • 2. DOWN SYNDROME
  • 3. SEX CHROMOSOME ABNORMALITIES: ANEUPLOIDIES [TURNER SYNDROME
  • KLINEFELTER SYNDROME]
  • Turner's Syndrome
  • Klinefelter's Syndrome
  • 4. MICRODELETION SYNDROMES:10Q- SYNDROME, NANCE-HORAN SYNDROME
  • Microdeletion Syndromes (Chromosome 10q Deletion Syndrome)
  • Nance-Horan Syndrome
  • 5. REHABILITATION
  • The Neurorehabilitation Team
  • The "Health Care Complexity"
  • Measurement of Childhood Disability
  • The International Classification of Functioning (ICF)
  • 6. CONCLUSION
  • REFERENCES.
  • NARRATIVE BASED MEDICINE IN GENETIC SYNDROMES WITH INTELLECTUAL DISABILITY
  • ABSTRACT
  • INTRODUCTION
  • OVERVIEW
  • METHOD
  • a. Premises
  • b. Limitations of Psychometric Methods
  • c. Our Unique Method of Collecting Life Stories
  • SOME CONSIDERATIONS ON UNDERLYING EPISTEMOLOGICAL ASPECTS
  • The methodology
  • TWO STORIES
  • a. Eleonora: Title: Power of Information
  • b. Alberto: Title: At work with a fever
  • A Rare Syndrome
  • CONCLUDING REMARKS
  • ACKNOWLEDGEMENTS
  • REFERENCES
  • INDEX.