Life Span Development in Genetic Disorders : Behavioral and Neurological Aspects.
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Format: | eBook |
Language: | English |
Published: |
New York :
Nova Science Publishers, Incorporated,
2008.
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Edition: | 1st ed. |
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Online Access: | Click to View |
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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.