메뉴 건너뛰기




Volumn 76, Issue 9, 2012, Pages 1292-1296

Development and characteristics of children with Usher syndrome and CHARGE syndrome

Author keywords

CHARGE syndrome; Deafblindness; Dual sensory loss; Language development; Usher syndrome

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; BALANCE IMPAIRMENT; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; DEAFBLINDNESS; DEVELOPMENTAL SCREENING; DISEASE ASSOCIATION; FEMALE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE; LANGUAGE ABILITY; LANGUAGE DISABILITY; MALE; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SLEEP DISORDER; SYNDROME CHARGE; USHER SYNDROME; VISUAL IMPAIRMENT; WALKING;

EID: 84865393806     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.05.021     Document Type: Article
Times cited : (34)

References (49)
  • 1
    • 0019425377 scopus 로고
    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon R.A., Graham J.M., Zonana J.Y.S.L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J. Pediatr. 1981, 99:223-227.
    • (1981) J. Pediatr. , vol.99 , pp. 223-227
    • Pagon, R.A.1    Graham, J.M.2    Zonana, J.Y.S.L.3
  • 7
    • 14344255717 scopus 로고    scopus 로고
    • Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data
    • Smith I.M., Nichols S.L., Issekutz K., Blake K. Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data. Am. J. Med. Genet. A 2005, 133A:248-256.
    • (2005) Am. J. Med. Genet. A , vol.133 A , pp. 248-256
    • Smith, I.M.1    Nichols, S.L.2    Issekutz, K.3    Blake, K.4
  • 8
    • 14344252476 scopus 로고    scopus 로고
    • Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
    • Graham J.M., Rosner B., Dykens E., Visootsak J. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. Am. J. Med. Genet. A 2005, 133A:240-247.
    • (2005) Am. J. Med. Genet. A , vol.133 A , pp. 240-247
    • Graham, J.M.1    Rosner, B.2    Dykens, E.3    Visootsak, J.4
  • 9
    • 14344264661 scopus 로고    scopus 로고
    • Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options
    • Bernstein V., Denno L.S. Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options. Am. J. Med. Genet. A 2005, 133A:232-239.
    • (2005) Am. J. Med. Genet. A , vol.133 A , pp. 232-239
    • Bernstein, V.1    Denno, L.S.2
  • 11
    • 14344251895 scopus 로고    scopus 로고
    • Adaptive behavior in children with CHARGE syndrome
    • Salem-Hartshorne N., Jacob S. Adaptive behavior in children with CHARGE syndrome. Am. J. Med. Genet. A 2005, 133A:262-267.
    • (2005) Am. J. Med. Genet. A , vol.133 A , pp. 262-267
    • Salem-Hartshorne, N.1    Jacob, S.2
  • 12
    • 70350719241 scopus 로고    scopus 로고
    • Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects
    • Johansson M., Gillberg C., Råstam M. Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects. Res. Dev. Disabil. 2010, 31:9-24.
    • (2010) Res. Dev. Disabil. , vol.31 , pp. 9-24
    • Johansson, M.1    Gillberg, C.2    Råstam, M.3
  • 13
    • 4344619862 scopus 로고    scopus 로고
    • Genetic heterogeneity in Usher syndrome
    • Keats B.J., Savas S. Genetic heterogeneity in Usher syndrome. Am. J. Med. Genet. A 2004, 130A:13-16.
    • (2004) Am. J. Med. Genet. A , vol.130 A , pp. 13-16
    • Keats, B.J.1    Savas, S.2
  • 14
    • 38749124706 scopus 로고    scopus 로고
    • Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy
    • Williams D.S. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008, 48:433-441.
    • (2008) Vision Res. , vol.48 , pp. 433-441
    • Williams, D.S.1
  • 15
    • 77954161995 scopus 로고    scopus 로고
    • Genetics and pathological mechanisms of Usher syndrome
    • Yan D., Liu X.Z. Genetics and pathological mechanisms of Usher syndrome. J. Hum. Genet. 2010, 55:327-335.
    • (2010) J. Hum. Genet. , vol.55 , pp. 327-335
    • Yan, D.1    Liu, X.Z.2
  • 16
    • 7944229728 scopus 로고
    • Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study
    • Hallgren B. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study. Acta Psychiatr. Scand. Suppl. 1959, 34:1-101.
    • (1959) Acta Psychiatr. Scand. Suppl. , vol.34 , pp. 1-101
    • Hallgren, B.1
  • 17
    • 0022891165 scopus 로고
    • Usher syndrome in four Norwegian counties
    • Grøndahl J., Mjøen S. Usher syndrome in four Norwegian counties. Clin. Genet. 1986, 30:14-28.
    • (1986) Clin. Genet. , vol.30 , pp. 14-28
    • Grøndahl, J.1    Mjøen, S.2
  • 18
    • 0014780501 scopus 로고
    • Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome
    • Nuutila A. Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome. J. Genet. Hum. 1970, 18:57-88.
    • (1970) J. Genet. Hum. , vol.18 , pp. 57-88
    • Nuutila, A.1
  • 19
    • 63649099320 scopus 로고    scopus 로고
    • Usher syndrome and psychiatric symptoms: a challenge in psychiatric management
    • Rijavec N., Grubic V.N. Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. Psychiatr. Danub. 2009, 21:68-71.
    • (2009) Psychiatr. Danub. , vol.21 , pp. 68-71
    • Rijavec, N.1    Grubic, V.N.2
  • 20
    • 68149125338 scopus 로고    scopus 로고
    • A case of Usher's syndrome associated with psychotic symptoms: diagnosis and follow-up in a psychiatric unit
    • Viala A., Nicot T., Levy F., Vacheron M.N. A case of Usher's syndrome associated with psychotic symptoms: diagnosis and follow-up in a psychiatric unit. Encephale 2009, 35:286-291.
    • (2009) Encephale , vol.35 , pp. 286-291
    • Viala, A.1    Nicot, T.2    Levy, F.3    Vacheron, M.N.4
  • 21
    • 33748339351 scopus 로고    scopus 로고
    • Usher syndrome with psychotic symptoms: two cases in the same family
    • Wu C.Y., Chiu C.C. Usher syndrome with psychotic symptoms: two cases in the same family. Psychiatry Clin. Neurosci. 2006, 60:626-628.
    • (2006) Psychiatry Clin. Neurosci. , vol.60 , pp. 626-628
    • Wu, C.Y.1    Chiu, C.C.2
  • 22
    • 0028673976 scopus 로고
    • Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness
    • Sharp C.W., Muir W.J., Blackwood D.H., Walker M., Gosden C., St Clair D.M. Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness. Am. J. Med. Genet. 1994, 54:354-360.
    • (1994) Am. J. Med. Genet. , vol.54 , pp. 354-360
    • Sharp, C.W.1    Muir, W.J.2    Blackwood, D.H.3    Walker, M.4    Gosden, C.5    St Clair, D.M.6
  • 23
    • 0031913495 scopus 로고    scopus 로고
    • A case report of Usher's syndrome and anorexia nervosa
    • Chapman V., Valmana A., Lacey J.H. A case report of Usher's syndrome and anorexia nervosa. Int. J. Eat. Disord. 1998, 23:223-226.
    • (1998) Int. J. Eat. Disord. , vol.23 , pp. 223-226
    • Chapman, V.1    Valmana, A.2    Lacey, J.H.3
  • 24
    • 0029044747 scopus 로고
    • Psychosocial implications of Usher syndrome, Type 1, throughout the life cycle
    • Miner I.D. Psychosocial implications of Usher syndrome, Type 1, throughout the life cycle. J. Vis. Impair. Blin. 1995, 89:287-297.
    • (1995) J. Vis. Impair. Blin. , vol.89 , pp. 287-297
    • Miner, I.D.1
  • 27
    • 79851512734 scopus 로고    scopus 로고
    • Prevalence and aetiology of congenitally deafblind people in Denmark
    • Dammeyer J. Prevalence and aetiology of congenitally deafblind people in Denmark. Int. J. Audiol. 2011, 32:571-575.
    • (2011) Int. J. Audiol. , vol.32 , pp. 571-575
    • Dammeyer, J.1
  • 28
    • 0035193037 scopus 로고    scopus 로고
    • Sensory impairments, intellectual disability and psychiatry
    • Carvill S. Sensory impairments, intellectual disability and psychiatry. J. Intellect. Disabil. Res. 2001, 45:467-483.
    • (2001) J. Intellect. Disabil. Res. , vol.45 , pp. 467-483
    • Carvill, S.1
  • 29
    • 4243101604 scopus 로고    scopus 로고
    • Characteristics and development of children with CHARGE association/syndrome
    • Salem-Hartshorne N., Jacob S. Characteristics and development of children with CHARGE association/syndrome. J. Early Interv. 2004, 26:292-301.
    • (2004) J. Early Interv. , vol.26 , pp. 292-301
    • Salem-Hartshorne, N.1    Jacob, S.2
  • 32
    • 34548564703 scopus 로고    scopus 로고
    • Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: a pediatric survey
    • Wachtel L.E., Hartshorne T.S., Dailor A.N. Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: a pediatric survey. J. Dev. Phys. Disabil. 2007, 19:471-483.
    • (2007) J. Dev. Phys. Disabil. , vol.19 , pp. 471-483
    • Wachtel, L.E.1    Hartshorne, T.S.2    Dailor, A.N.3
  • 33
    • 14344263807 scopus 로고    scopus 로고
    • Factors related to the development of communication in CHARGE syndrome
    • Thelin J.W., Fussner J.C. Factors related to the development of communication in CHARGE syndrome. Am. J. Med. Genet. A 2005, 133A:282-290.
    • (2005) Am. J. Med. Genet. A , vol.133 A , pp. 282-290
    • Thelin, J.W.1    Fussner, J.C.2
  • 37
    • 0032230129 scopus 로고    scopus 로고
    • Retinitis pigmentosa and schizophrenia
    • McDonald C., Kenna P., Larkin T. Retinitis pigmentosa and schizophrenia. Eur. Psychiatry 1998, 13:423-426.
    • (1998) Eur. Psychiatry , vol.13 , pp. 423-426
    • McDonald, C.1    Kenna, P.2    Larkin, T.3
  • 39
    • 0034207789 scopus 로고    scopus 로고
    • Developmental psychopathology: concepts and challenges
    • Rutter M., Sroufe L.A. Developmental psychopathology: concepts and challenges. Dev. Psychopathol. 2000, 12:265-296.
    • (2000) Dev. Psychopathol. , vol.12 , pp. 265-296
    • Rutter, M.1    Sroufe, L.A.2
  • 40
    • 14344257058 scopus 로고    scopus 로고
    • CHARGE syndrome " behaviors": challenges or adaptations?
    • Brown D. CHARGE syndrome " behaviors": challenges or adaptations?. Am. J. Med. Genet. A 2005, 133A:268-272.
    • (2005) Am. J. Med. Genet. A , vol.133 A , pp. 268-272
    • Brown, D.1
  • 41
    • 84865353143 scopus 로고    scopus 로고
    • Changes over the life cycle. Childhood
    • Plural Publishing, San Diego, CA, T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.)
    • Salem-Hartshorne N., Hartshorne T.S. Changes over the life cycle. Childhood. CHARGE Syndrome 2011, 231-236. Plural Publishing, San Diego, CA. T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.).
    • (2011) CHARGE Syndrome , pp. 231-236
    • Salem-Hartshorne, N.1    Hartshorne, T.S.2
  • 42
    • 79851513915 scopus 로고    scopus 로고
    • Interaction of dual sensory loss, cognitive function, and communication in people who are congenitally deaf-blind
    • Dammeyer J. Interaction of dual sensory loss, cognitive function, and communication in people who are congenitally deaf-blind. J. Vis. Impair. Blin. 2010, 104:719-725.
    • (2010) J. Vis. Impair. Blin. , vol.104 , pp. 719-725
    • Dammeyer, J.1
  • 43
    • 63349105864 scopus 로고    scopus 로고
    • Congenitally deafblind children and cochlear implants-effect on communication
    • Dammeyer J. Congenitally deafblind children and cochlear implants-effect on communication. J. Deaf Stud. Deaf Educ. 2008, 14:278-288.
    • (2008) J. Deaf Stud. Deaf Educ. , vol.14 , pp. 278-288
    • Dammeyer, J.1
  • 44
    • 0035014982 scopus 로고    scopus 로고
    • A review and evaluation of research on the deaf-blind from perceptual, communicative, social and rehabilitative perspectives
    • Rönnberg J., Borg E. A review and evaluation of research on the deaf-blind from perceptual, communicative, social and rehabilitative perspectives. Scand. Audiol. 2001, 30:67-77.
    • (2001) Scand. Audiol. , vol.30 , pp. 67-77
    • Rönnberg, J.1    Borg, E.2
  • 45
    • 0345062136 scopus 로고    scopus 로고
    • Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome
    • Hess-Röver J., Crichton J., Byrne K., Holland A.J. Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome. J. Intellect. Disabil. Res. 1999, 43:428-434.
    • (1999) J. Intellect. Disabil. Res. , vol.43 , pp. 428-434
    • Hess-Röver, J.1    Crichton, J.2    Byrne, K.3    Holland, A.J.4
  • 47
    • 84865364303 scopus 로고    scopus 로고
    • Cognitive
    • Plural Publishing, San Diego, CA, T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.)
    • Salem-Hartshorne N. Cognitive. CHARGE Syndrome 2011, 199-204. Plural Publishing, San Diego, CA. T.S. Hartshorne, M.A. Hefner, S.L.H. Davenport, J.W. Thelin (Eds.).
    • (2011) CHARGE Syndrome , pp. 199-204
    • Salem-Hartshorne, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.