메뉴 건너뛰기




Volumn 56, Issue 6, 2012, Pages 641-651

Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

Author keywords

22q11 deletion syndrome; Adult; Caregivers; Chromosome deletion; Genetic services; Intellectual disability

Indexed keywords

ADULT; ARTICLE; CANADA; CAREGIVER; CHROMOSOME DELETION 22Q11; FEMALE; GENETIC ANALYSIS; HEALTH CARE NEED; HEALTH SURVEY; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS;

EID: 84860783704     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2011.01510.x     Document Type: Article
Times cited : (40)

References (56)
  • 1
    • 84925567940 scopus 로고    scopus 로고
    • A question of benefit
    • Anonymous () .
    • Anonymous (2010) A question of benefit. Nature Genetics 42, 811.
    • (2010) Nature Genetics , vol.42 , pp. 811
  • 3
    • 77956998380 scopus 로고    scopus 로고
    • Newborn screening programs: should 22q11 deletion syndrome be added?
    • Bales A. M., Zaleski C. A. & McPherson E. W. (2010) Newborn screening programs: should 22q11 deletion syndrome be added? Genetics in Medicine 12, 135-44.
    • (2010) Genetics in Medicine , vol.12 , pp. 135-144
    • Bales, A.M.1    Zaleski, C.A.2    McPherson, E.W.3
  • 4
    • 49649124127 scopus 로고    scopus 로고
    • Schizophrenia and 22q11.2 deletion syndrome
    • Bassett A. S. & Chow E. W. (2008) Schizophrenia and 22q11.2 deletion syndrome. Current Psychiatry Reports 10, 148-57.
    • (2008) Current Psychiatry Reports , vol.10 , pp. 148-157
    • Bassett, A.S.1    Chow, E.W.2
  • 9
    • 77955379566 scopus 로고    scopus 로고
    • Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease
    • Bassett A. S., Scherer S. W. & Brzustowicz L. M. (2010b) Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. The American Journal of Psychiatry 167, 899-914.
    • (2010) The American Journal of Psychiatry , vol.167 , pp. 899-914
    • Bassett, A.S.1    Scherer, S.W.2    Brzustowicz, L.M.3
  • 12
    • 33748895740 scopus 로고    scopus 로고
    • Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
    • Chow E. W., Watson M., Young D. A. & Bassett A. S. (2006) Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophrenia Research 87, 270-8.
    • (2006) Schizophrenia Research , vol.87 , pp. 270-278
    • Chow, E.W.1    Watson, M.2    Young, D.A.3    Bassett, A.S.4
  • 17
    • 77951526543 scopus 로고    scopus 로고
    • Genetic counseling for women with intellectual disabilities
    • (eds B. S. Leroy, P. M. Veach & D. M. Bartels) Wiley-Blackwell, Hoboken, NJ.
    • Finucane B. (2010) Genetic counseling for women with intellectual disabilities. In: Genetic Counseling Practice: Advanced Concepts and Skills (eds B. S. Leroy, P. M. Veach & D. M. Bartels ), pp. 281-303. Wiley-Blackwell, Hoboken, NJ.
    • (2010) Genetic Counseling Practice: Advanced Concepts and Skills , pp. 281-303
    • Finucane, B.1
  • 18
    • 0345166845 scopus 로고    scopus 로고
    • Continuum of intellectual disability: demographic evidence for the 'forgotten generation
    • Fujiura G. T. (2003) Continuum of intellectual disability: demographic evidence for the 'forgotten generation. Mental Retardation 41, 420-9.
    • (2003) Mental Retardation , vol.41 , pp. 420-429
    • Fujiura, G.T.1
  • 22
    • 48349144482 scopus 로고    scopus 로고
    • Genomic Medicine: 'grand challenges' in the translation of genomics to human health
    • Ginsburg G. S. (2008) Genomic Medicine: 'grand challenges' in the translation of genomics to human health. European Journal of Human Genetics 16, 873-4.
    • (2008) European Journal of Human Genetics , vol.16 , pp. 873-874
    • Ginsburg, G.S.1
  • 23
    • 34247149788 scopus 로고    scopus 로고
    • Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled
    • Graungaard A. H. & Skov L. (2007) Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled. Child: Care, Health and Development 33, 296-307.
    • (2007) Child: Care, Health and Development , vol.33 , pp. 296-307
    • Graungaard, A.H.1    Skov, L.2
  • 25
    • 77955243540 scopus 로고    scopus 로고
    • 22q11 deletion syndrome - the meaning of a diagnosis. A qualitative study on parental perspectives
    • Hallberg U., Oskarsdottir S. & Klingberg G. (2010) 22q11 deletion syndrome - the meaning of a diagnosis. A qualitative study on parental perspectives. Child: Care, Health and Development 36, 719-25.
    • (2010) Child: Care, Health and Development , vol.36 , pp. 719-725
    • Hallberg, U.1    Oskarsdottir, S.2    Klingberg, G.3
  • 26
    • 24044519010 scopus 로고    scopus 로고
    • Response to Verri (Journal of Intellectual Disability Research 48, 679-686): is there room for hope when considering the problem of late diagnosis in intellectual disability?
    • Henderson A. & Dick M. (2005) Response to Verri etal. (Journal of Intellectual Disability Research 48, 679-686): is there room for hope when considering the problem of late diagnosis in intellectual disability? Journal of Intellectual Disability Research 49, 690-1.
    • (2005) Journal of Intellectual Disability Research , vol.49 , pp. 690-691
    • Henderson, A.1    Dick, M.2
  • 27
    • 51449090320 scopus 로고    scopus 로고
    • Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome: an exploratory study
    • Hercher L. & Bruenner G. (2008) Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome: an exploratory study. American Journal of Medical Genetics. Part A 146, 2355-60.
    • (2008) American Journal of Medical Genetics. Part A , vol.146 , pp. 2355-2360
    • Hercher, L.1    Bruenner, G.2
  • 28
    • 67650659089 scopus 로고    scopus 로고
    • Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
    • Hochstenbach R., van Binsbergen E., Engelen J., Nieuwint A., Polstra A., Poddighe P. etal. (2009) Array analysis and karyotyping: workflow consequences based on a retrospective study of 36, 325 patients with idiopathic developmental delay in the Netherlands. European Journal of Medical Genetics 52, 161-9.
    • (2009) European Journal of Medical Genetics , vol.52 , pp. 161-169
    • Hochstenbach, R.1    van Binsbergen, E.2    Engelen, J.3    Nieuwint, A.4    Polstra, A.5    Poddighe, P.6
  • 30
    • 39749127846 scopus 로고    scopus 로고
    • Recognizing a common genetic syndrome: 22q11.2 deletion syndrome
    • Kapadia R. K. & Bassett A. S. (2008) Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. Canadian Medical Association Journal 178, 391-3.
    • (2008) Canadian Medical Association Journal , vol.178 , pp. 391-393
    • Kapadia, R.K.1    Bassett, A.S.2
  • 31
    • 3242707732 scopus 로고    scopus 로고
    • Mental health disorders among individuals with mental retardation: challenges to accurate prevalence estimates
    • Kerker B. D., Owens P. L., Zigler E. & Horwitz S. M. (2004) Mental health disorders among individuals with mental retardation: challenges to accurate prevalence estimates. Public Health Reports 119, 409-17.
    • (2004) Public Health Reports , vol.119 , pp. 409-417
    • Kerker, B.D.1    Owens, P.L.2    Zigler, E.3    Horwitz, S.M.4
  • 32
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
    • Kobrynski L. J. & Sullivan K. E. (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370, 1443-52.
    • (2007) Lancet , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 33
    • 77952690350 scopus 로고    scopus 로고
    • The clinical context of copy number variation in the human genome
    • Lee C. & Scherer S. W. (2010) The clinical context of copy number variation in the human genome. Expert Reviews in Molecular Medicine 12, e8.
    • (2010) Expert Reviews in Molecular Medicine , vol.12
    • Lee, C.1    Scherer, S.W.2
  • 37
    • 47549091039 scopus 로고    scopus 로고
    • The value of a genetic diagnosis for individuals with intellectual disabilities: optimising healthcare and function across the lifespan
    • Lopez-Rangel E., Mickelson E. C. R. & Lewis M. E. S. (2008) The value of a genetic diagnosis for individuals with intellectual disabilities: optimising healthcare and function across the lifespan. The British Journal of Developmental Disabilities 54, 69-82.
    • (2008) The British Journal of Developmental Disabilities , vol.54 , pp. 69-82
    • Lopez-Rangel, E.1    Mickelson, E.C.R.2    Lewis, M.E.S.3
  • 38
    • 0035845256 scopus 로고    scopus 로고
    • Qualitative research: standards, challenges, and guidelines
    • Malterud K. (2001) Qualitative research: standards, challenges, and guidelines. Lancet 358, 483-8.
    • (2001) Lancet , vol.358 , pp. 483-488
    • Malterud, K.1
  • 39
    • 58149425798 scopus 로고
    • A theory of human motivation
    • Maslow A. H. (1943) A theory of human motivation. Psychological Review 50, 370-96.
    • (1943) Psychological Review , vol.50 , pp. 370-396
    • Maslow, A.H.1
  • 41
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller D. T., Adam M. P., Aradhya S., Biesecker L. G., Brothman A. R., Carter N. P. etal. (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics 86, 749-64.
    • (2010) American Journal of Human Genetics , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3    Biesecker, L.G.4    Brothman, A.R.5    Carter, N.P.6
  • 42
    • 77954915671 scopus 로고    scopus 로고
    • What is a meaningful result? Disclosing the results of genomic research in autism to research participants
    • Miller F. A., Hayeems R. Z. & Bytautas J. P. (2010) What is a meaningful result? Disclosing the results of genomic research in autism to research participants. European Journal of Human Genetics 18, 867-71.
    • (2010) European Journal of Human Genetics , vol.18 , pp. 867-871
    • Miller, F.A.1    Hayeems, R.Z.2    Bytautas, J.P.3
  • 43
  • 44
    • 24744458436 scopus 로고    scopus 로고
    • Family experiences associated with a child's diagnosis of fragile X or Down syndrome: evidence for disruption and resilience
    • Poehlmann J., Clements M., Abbeduto L. & Farsad V. (2005) Family experiences associated with a child's diagnosis of fragile X or Down syndrome: evidence for disruption and resilience. Mental Retardation 43, 255-67.
    • (2005) Mental Retardation , vol.43 , pp. 255-267
    • Poehlmann, J.1    Clements, M.2    Abbeduto, L.3    Farsad, V.4
  • 45
    • 0141990461 scopus 로고    scopus 로고
    • Genetic services for people with intellectual disability and their families
    • Raymond F. L. (2003) Genetic services for people with intellectual disability and their families. Journal of Intellectual Disability Research 47, 509-14.
    • (2003) Journal of Intellectual Disability Research , vol.47 , pp. 509-514
    • Raymond, F.L.1
  • 46
    • 33751006730 scopus 로고    scopus 로고
    • It does matter: the importance of making the diagnosis of a genetic syndrome
    • Robin N. H. (2006) It does matter: the importance of making the diagnosis of a genetic syndrome. Current Opinion in Pediatrics 18, 595-7.
    • (2006) Current Opinion in Pediatrics , vol.18 , pp. 595-597
    • Robin, N.H.1
  • 47
    • 0035479331 scopus 로고    scopus 로고
    • Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes
    • Rosenthal E. T., Biesecker L. G. & Biesecker B. B. (2001) Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. American Journal of Medical Genetics 103, 106-14.
    • (2001) American Journal of Medical Genetics , vol.103 , pp. 106-114
    • Rosenthal, E.T.1    Biesecker, L.G.2    Biesecker, B.B.3
  • 49
    • 70349767379 scopus 로고    scopus 로고
    • Genetic syndromes: from clinical suspicion to referral to diagnosis
    • Shur N. & Abuelo D. (2009) Genetic syndromes: from clinical suspicion to referral to diagnosis. Pediatric Annals 38, 419-25.
    • (2009) Pediatric Annals , vol.38 , pp. 419-425
    • Shur, N.1    Abuelo, D.2
  • 50
    • 0036884223 scopus 로고    scopus 로고
    • Parents' needs for knowledge concerning the medical diagnosis of their children
    • Starke M. & Moller A. (2002) Parents' needs for knowledge concerning the medical diagnosis of their children. Journal of Child Health Care 6, 245-57.
    • (2002) Journal of Child Health Care , vol.6 , pp. 245-257
    • Starke, M.1    Moller, A.2
  • 51
    • 0036020607 scopus 로고    scopus 로고
    • Parents' experiences of receiving the diagnosis of Turner syndrome: an explorative and retrospective study
    • Starke M., Wikland K. A. & Moller A. (2002) Parents' experiences of receiving the diagnosis of Turner syndrome: an explorative and retrospective study. Patient Education and Counseling 47, 347-54.
    • (2002) Patient Education and Counseling , vol.47 , pp. 347-354
    • Starke, M.1    Wikland, K.A.2    Moller, A.3
  • 55
    • 84857039892 scopus 로고    scopus 로고
    • Knowledge, attitudes and training of professionals on dual diagnosis of intellectual disability and psychiatric disorder
    • doi: 10.1111/j.1365-2788.2011.01429.x.
    • Werner S. & Stawski M. (2011) Knowledge, attitudes and training of professionals on dual diagnosis of intellectual disability and psychiatric disorder. Journal of Intellectual Disability Research. doi: 10.1111/j.1365-2788.2011.01429.x.
    • (2011) Journal of Intellectual Disability Research
    • Werner, S.1    Stawski, M.2
  • 56
    • 34547845284 scopus 로고    scopus 로고
    • A place for genetic uncertainty: parents valuing an unknown in the meaning of disease
    • Whitmarsh I., Davis A. M., Skinner D. & Bailey D. B. Jr (2007) A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Social Science and Medicine 65, 1082-93.
    • (2007) Social Science and Medicine , vol.65 , pp. 1082-1093
    • Whitmarsh, I.1    Davis, A.M.2    Skinner, D.3    Bailey Jr., D.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.