메뉴 건너뛰기




Volumn 14, Issue 1, 2001, Pages 24-33

Identifying Infants and Toddlers with Fragile X Syndrome: Issues and Recommendations

Author keywords

Early identification; Fragile X syndrome; Screening

Indexed keywords


EID: 0035591631     PISSN: 08963746     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001163-200114010-00006     Document Type: Article
Times cited : (26)

References (31)
  • 2
    • 0034094215 scopus 로고    scopus 로고
    • Advances in research on the fragile X syndrome
    • Mazzocco MM. Advances in research on the fragile X syndrome. Ment Retard Dev Dis Res Rev. 2000;6:96-106.
    • (2000) Ment Retard Dev Dis Res Rev. , vol.6 , pp. 96-106
    • Mazzocco, M.M.1
  • 3
    • 84989748919 scopus 로고
    • The nature and consequences of fragile X syndrome
    • Bailey DB, Nelson D. The nature and consequences of fragile X syndrome. Ment Retard Dev Dis Res Rev. 1995;1:238-244.
    • (1995) Ment Retard Dev Dis Res Rev. , vol.1 , pp. 238-244
    • Bailey, D.B.1    Nelson, D.2
  • 4
    • 21344485157 scopus 로고
    • Diagnosis and developmental issues for young children with fragile X syndrome
    • Freund LS. Diagnosis and developmental issues for young children with fragile X syndrome. Inf Young Child. 1994;6(3):34-45.
    • (1994) Inf Young Child , vol.6 , Issue.3 , pp. 34-45
    • Freund, L.S.1
  • 5
    • 0034302984 scopus 로고    scopus 로고
    • Family experiences and factors associated with the diagnosis of fragile X syndrome
    • Bailey DB, Skinner D, Hatton D, Roberts J. Family experiences and factors associated with the diagnosis of fragile X syndrome. J Dev Behav Pediatr. 2000;21:315-321.
    • (2000) J Dev Behav Pediatr. , vol.21 , pp. 315-321
    • Bailey, D.B.1    Skinner, D.2    Hatton, D.3    Roberts, J.4
  • 7
    • 0032940345 scopus 로고    scopus 로고
    • The value of parents' concerns to detect and address developmental and behavioral problems
    • Glascoe FP. The value of parents' concerns to detect and address developmental and behavioral problems. J Paediatr Child Health. 1999;35:1-8.
    • (1999) J Paediatr Child Health , vol.35 , pp. 1-8
    • Glascoe, F.P.1
  • 8
    • 0028950201 scopus 로고
    • Effects of child age and level of developmental delay on family practice physicians' diagnostic impressions
    • Epps S, Kroeker R. Effects of child age and level of developmental delay on family practice physicians' diagnostic impressions. Ment Retard. 1995;33:35-41.
    • (1995) Ment Retard. , vol.33 , pp. 35-41
    • Epps, S.1    Kroeker, R.2
  • 9
    • 0028963730 scopus 로고
    • Physician early intervention referral as a function of child age and level of developmental delay
    • Epps S, Kroeker R. Physician early intervention referral as a function of child age and level of developmental delay. Ment Retard. 1995;33:104-110.
    • (1995) Ment Retard. , vol.33 , pp. 104-110
    • Epps, S.1    Kroeker, R.2
  • 10
    • 0002062482 scopus 로고    scopus 로고
    • Exploratory study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population
    • Wildhagen MF, van Oostra B, Polder JJ, ten Kate IP, Habbema JD. Exploratory study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population. Community Genet. 1998;1:36-47.
    • (1998) Community Genet. , vol.1 , pp. 36-47
    • Wildhagen, M.F.1    Van Oostra, B.2    Polder, J.J.3    Ten Kate, I.P.4    Habbema, J.D.5
  • 11
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene-implications for population genetics of the fragile X syndrome
    • Rousseau F, Rouillard P, Morel M-L, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMR1 gene-implications for population genetics of the fragile X syndrome. Am J Hum Genet. 1995;57:1006-1018.
    • (1995) Am J Hum Genet. , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.-L.3    Khandjian, E.W.4    Morgan, K.5
  • 12
    • 0031395376 scopus 로고    scopus 로고
    • Screening for fragile X syndrome: Information needs for health planners
    • Murray J, Cuckle H, Taylor G, Hewison J. Screening for fragile X syndrome: information needs for health planners. J Med Screening. 1997;4:60-94.
    • (1997) J Med Screening , vol.4 , pp. 60-94
    • Murray, J.1    Cuckle, H.2    Taylor, G.3    Hewison, J.4
  • 13
    • 0025782549 scopus 로고
    • A 15-item checklist for screening mentally retarded males for the fragile X syndrome
    • Butler MG, Mangrum T, Gupta R, Singh DN. A 15-item checklist for screening mentally retarded males for the fragile X syndrome. Clin Genet. 1991;39:347-354.
    • (1991) Clin Genet. , vol.39 , pp. 347-354
    • Butler, M.G.1    Mangrum, T.2    Gupta, R.3    Singh, D.N.4
  • 15
    • 0025976184 scopus 로고
    • Clinical screening score for the fragile X (Martin-Bell) syndrome
    • Laing MP, Partington M, Robinson H, Turner G. Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet. 1991;38:256-259.
    • (1991) Am J Med Genet. , vol.38 , pp. 256-259
    • Laing, M.P.1    Partington, M.2    Robinson, H.3    Turner, G.4
  • 16
    • 16944362509 scopus 로고    scopus 로고
    • Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey
    • deVries BBA, van den Ouweland AMW, Mohkamsing S, et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am J Hum Genet. 1997;61:660-667.
    • (1997) Am J Hum Genet. , vol.61 , pp. 660-667
    • DeVries, B.B.A.1    Van Den Ouweland, A.M.W.2    Mohkamsing, S.3
  • 17
    • 0030728693 scopus 로고    scopus 로고
    • Applicability of a checklist for clinical screening of the fragile X syndrome
    • Arvio M, Peippo M, Simola KOJ. Applicability of a checklist for clinical screening of the fragile X syndrome. Clin Genet. 1997;52:211-215.
    • (1997) Clin Genet. , vol.52 , pp. 211-215
    • Arvio, M.1    Peippo, M.2    Simola, K.O.J.3
  • 18
    • 0030997941 scopus 로고    scopus 로고
    • Fragile X syndrome: Molecular and clinical insights and treatment issues
    • Hagerman RJ. Fragile X syndrome: molecular and clinical insights and treatment issues. Western J Med. 1997;166:129-137.
    • (1997) Western J Med. , vol.166 , pp. 129-137
    • Hagerman, R.J.1
  • 19
    • 0026057778 scopus 로고
    • Fragile X screening program in New York State
    • Nolin SL, Snider DA, Jenkins EC, et al. Fragile X screening program in New York State. Am J Med Genet. 1991;38:251-255.
    • (1991) Am J Med Genet. , vol.38 , pp. 251-255
    • Nolin, S.L.1    Snider, D.A.2    Jenkins, E.C.3
  • 20
    • 0034608670 scopus 로고    scopus 로고
    • Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males
    • Lachiewicz AM, Dawson DV, Spiridigliozzi GA. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet. 2000;92:229-236.
    • (2000) Am J Med Genet. , vol.92 , pp. 229-236
    • Lachiewicz, A.M.1    Dawson, D.V.2    Spiridigliozzi, G.A.3
  • 21
    • 0034199405 scopus 로고    scopus 로고
    • Phenotypic checklist to screen for fragile X syndrome in people with mental retardation
    • Maes B, Fryns JP, Ghesquiere P, Borghgraef M. Phenotypic checklist to screen for fragile X syndrome in people with mental retardation. Ment Retard. 2000;38:207-215.
    • (2000) Ment Retard. , vol.38 , pp. 207-215
    • Maes, B.1    Fryns, J.P.2    Ghesquiere, P.3    Borghgraef, M.4
  • 22
    • 0030376064 scopus 로고    scopus 로고
    • A simplified six-item checklist for screening for fragile X syndrome in the pediatric population
    • Giangreco CA, Steele MW, Aston CE, Cummins JH, Wenger SL A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. J Pediatr. 1996;129:611-614.
    • (1996) J Pediatr. , vol.129 , pp. 611-614
    • Giangreco, C.A.1    Steele, M.W.2    Aston, C.E.3    Cummins, J.H.4    Wenger, S.L.5
  • 23
    • 0003772101 scopus 로고    scopus 로고
    • Fragile X syndrome: Meeting the challenges of diagnosis and care
    • Hagerman RJ. Fragile X syndrome: meeting the challenges of diagnosis and care. Contemp Pediatr. 1997;14:31-59.
    • (1997) Contemp Pediatr. , vol.14 , pp. 31-59
    • Hagerman, R.J.1
  • 24
    • 0028260946 scopus 로고
    • Do young boys with fragile X syndrome have macroorchidism?
    • Lachlewicz AM, Dawson DV. Do young boys with fragile X syndrome have macroorchidism? Pediatrics. 1994;93:992-995.
    • (1994) Pediatrics , vol.93 , pp. 992-995
    • Lachlewicz, A.M.1    Dawson, D.V.2
  • 26
    • 0033515517 scopus 로고    scopus 로고
    • Maximizing the sensitivity of a screening questionnaire for determining fragile X at risk status
    • Tiesl JT, Reiss AL, Mazzocco MMM. Maximizing the sensitivity of a screening questionnaire for determining fragile X at risk status. Am J Med Genet. 1999;83:281-285.
    • (1999) Am J Med Genet. , vol.83 , pp. 281-285
    • Tiesl, J.T.1    Reiss, A.L.2    Mazzocco, M.M.M.3
  • 27
    • 0024566992 scopus 로고
    • Fragile X syndrome: Recognition in young children
    • Simko A, Homstein L, Soukup S, Bagamery N. Fragile X syndrome: recognition in young children. Pediatrics. 1989;4:547-552.
    • (1989) Pediatrics , vol.4 , pp. 547-552
    • Simko, A.1    Homstein, L.2    Soukup, S.3    Bagamery, N.4
  • 28
    • 20244383946 scopus 로고    scopus 로고
    • Early developmental trajectories of males with fragile X syndrome
    • Bailey DB, Hatton DD, Skinner M. Early developmental trajectories of males with fragile X syndrome. Am J Ment Retard. 1998;103:29-39.
    • (1998) Am J Ment Retard. , vol.103 , pp. 29-39
    • Bailey, D.B.1    Hatton, D.D.2    Skinner, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.