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

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.

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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.