000			05965nam a22004813i 4500
001			EBC3018455
003			MiAaPQ
005			20240729124101.0
006			m o d |
007			cr cnu||||||||
008			240724s2008 xx o ||||0 eng d
020			_a9781608762507 _q(electronic bk.)
020			_z9781604568394
035			_a(MiAaPQ)EBC3018455
035			_a(Au-PeEL)EBL3018455
035			_a(CaPaEBR)ebr10660316
035			_a(OCoLC)923658410
040			_aMiAaPQ _beng _erda _epn _cMiAaPQ _dMiAaPQ
050		4	_aRB155.5 -- .L54 2008eb
082	0		_a616/.042
100	1		_aVerri, Annapia.
245	1	0	_aLife Span Development in Genetic Disorders : _bBehavioral and Neurological Aspects.
250			_a1st ed.
264		1	_aNew York : _bNova Science Publishers, Incorporated, _c2008.
264		4	_c©2008.
300			_a1 online resource (244 pages)
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
505	0		_aIntro -- 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.
505	8		_aNEUROBIOLOGICAL 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.
505	8		_aNARRATIVE 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.
588			_aDescription based on publisher supplied metadata and other sources.
590			_aElectronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.
650		0	_aGenetic disorders.
650		0	_aDevelopmental disabilities -- Genetic aspects.
650		0	_aDevelopmental genetics.
650		0	_aDevelopmental psychology.
655		4	_aElectronic books.
776	0	8	_iPrint version: _aVerri, Annapia _tLife Span Development in Genetic Disorders _dNew York : Nova Science Publishers, Incorporated,c2008 _z9781604568394
797	2		_aProQuest (Firm)
856	4	0	_uhttps://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3018455 _zClick to View
999			_c59667 _d59667