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Volumn 45, Issue 9, 2006, Pages 1104-1113

The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms

Author keywords

22q11 deletion syndrome; Autism; Behavioral phenotype; Psychosis; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD BEHAVIOR; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; DELUSION; DISTRESS SYNDROME; GENE DELETION; HALLUCINATION; HUMAN; INTELLIGENCE; MAJOR CLINICAL STUDY; MENTAL DISEASE; PREVALENCE; PRIORITY JOURNAL; PSYCHIATRY; PSYCHOSIS; SCHOOL CHILD; STRUCTURED INTERVIEW; SYMPTOMATOLOGY; VIDEORECORDING;

EID: 33748426974     PISSN: 08908567     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.chi.0000228131.56956.c1     Document Type: Article
Times cited : (303)

References (56)
  • 2
    • 0035826540 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders
    • Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R (2001), Velo-cardio-facial syndrome: implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J Med Genet 105:354-362
    • (2001) Am J Med Genet , vol.105 , pp. 354-362
    • Arnold, P.D.1    Siegel-Bartelt, J.2    Cytrynbaum, C.3    Teshima, I.4    Schachar, R.5
  • 3
    • 13244261075 scopus 로고    scopus 로고
    • Adolescents and young adults with 22q11 deletion syndrome: Psychopathology in an at-risk group
    • Baker KD, Skuse DH (2005), Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry 186:115-120
    • (2005) Br J Psychiatry , vol.186 , pp. 115-120
    • Baker, K.D.1    Skuse, D.H.2
  • 5
    • 27444447025 scopus 로고    scopus 로고
    • Clinical features of 78 adults with 22q11 deletion syndrome
    • Bassett AS, Chow EW, Husted J et al. (2005), Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 138:307-313
    • (2005) Am J Med Genet A , vol.138 , pp. 307-313
    • Bassett, A.S.1    Chow, E.W.2    Husted, J.3
  • 6
    • 0031959051 scopus 로고    scopus 로고
    • Autism, affective and other psychiatric disorders: Patterns of familial aggregation
    • Bolton PF, Pickles A, Murphy M, Rutter M (1998), Autism, affective and other psychiatric disorders: patterns of familial aggregation. Psychol Med 28:385-395
    • (1998) Psychol Med , vol.28 , pp. 385-395
    • Bolton, P.F.1    Pickles, A.2    Murphy, M.3    Rutter, M.4
  • 7
    • 0038419517 scopus 로고    scopus 로고
    • A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
    • Botto LD, May K, Fernhoff PM et al. (2003), A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101-107
    • (2003) Pediatrics , vol.112 , pp. 101-107
    • Botto, L.D.1    May, K.2    Fernhoff, P.M.3
  • 8
    • 0031668588 scopus 로고    scopus 로고
    • Diagnostic rules for children with PDD-NOS and multiple complex developmental disorder
    • Buitelaar JK, van der Gaag RJ (1998), Diagnostic rules for children with PDD-NOS and multiple complex developmental disorder. J Child Psychol Psychiatry 39:911-919
    • (1998) J Child Psychol Psychiatry , vol.39 , pp. 911-919
    • Buitelaar, J.K.1    Van Der Gaag, R.J.2
  • 9
    • 0030862263 scopus 로고    scopus 로고
    • Premorbid social functioning in schizophrenia and bipolar disorder: Similarities and differences
    • Cannon M, Jones P, Gilvarry C et al. (1997), Premorbid social functioning in schizophrenia and bipolar disorder: similarities and differences. Am J Psychiatry 154:1544-1550
    • (1997) Am J Psychiatry , vol.154 , pp. 1544-1550
    • Cannon, M.1    Jones, P.2    Gilvarry, C.3
  • 10
    • 0030910606 scopus 로고    scopus 로고
    • Molecular analysis of velocardiofacial syndrome patients with psychiatric disorders
    • Carlson C, Papolos D, Pandita RK et al. (1997), Molecular analysis of velocardiofacial syndrome patients with psychiatric disorders. Am J Hum Genet 60:851-859
    • (1997) Am J Hum Genet , vol.60 , pp. 851-859
    • Carlson, C.1    Papolos, D.2    Pandita, R.K.3
  • 11
    • 0027300654 scopus 로고
    • Subclassification of children with autism and pervasive developmental disorder: A questionnaire based on Wing's subgrouping scheme
    • Castelloe P, Dawson G (1993), Subclassification of children with autism and pervasive developmental disorder: a questionnaire based on Wing's subgrouping scheme. J Autism Dev Disord 23:229-241
    • (1993) J Autism Dev Disord , vol.23 , pp. 229-241
    • Castelloe, P.1    Dawson, G.2
  • 12
    • 0004016749 scopus 로고    scopus 로고
    • North Tonawanda, NY: Multi-Health Systems Publishing
    • Conners CK (1997), Conners Rating Scales-Revised. North Tonawanda, NY: Multi-Health Systems Publishing
    • (1997) Conners Rating Scales-Revised
    • Conners, C.K.1
  • 13
  • 14
    • 3543049569 scopus 로고    scopus 로고
    • Interrelationship between Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) classification in children and adolescents with mental retardation
    • de Bildt A, Sytema S, Ketelaars C et al. (2004), Interrelationship between Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) classification in children and adolescents with mental retardation. J Autism Dev Disord 34:129-137
    • (2004) J Autism Dev Disord , vol.34 , pp. 129-137
    • De Bildt, A.1    Sytema, S.2    Ketelaars, C.3
  • 15
    • 0027965383 scopus 로고
    • Childhood antecedents of schizophrenia and affective illness: Social adjustment at ages 7 and 11
    • Done DJ, Crow TJ, Johnstone EC, Sacker A (1994), Childhood antecedents of schizophrenia and affective illness: social adjustment at ages 7 and 11. BMJ 309:699-703
    • (1994) BMJ , vol.309 , pp. 699-703
    • Done, D.J.1    Crow, T.J.2    Johnstone, E.C.3    Sacker, A.4
  • 16
    • 0032790898 scopus 로고    scopus 로고
    • A common molecular basis for rearrangement disorders on chromosome 22q11
    • Edelmann L, Pandita RK, Spiteri E et al. (1999), A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8:1157-1167
    • (1999) Hum Mol Genet , vol.8 , pp. 1157-1167
    • Edelmann, L.1    Pandita, R.K.2    Spiteri, E.3
  • 17
    • 0037084412 scopus 로고    scopus 로고
    • Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: Usefulness as phenotypic indicators of schizophrenia risk
    • Feinstein C, Eliez S, Blasey C, Reiss AL (2002), Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 51:312-318
    • (2002) Biol Psychiatry , vol.51 , pp. 312-318
    • Feinstein, C.1    Eliez, S.2    Blasey, C.3    Reiss, A.L.4
  • 18
    • 24044515278 scopus 로고    scopus 로고
    • Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
    • Fine SE, Weissman A, Gerdes M et al. (2005), Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 35:461-470
    • (2005) J Autism Dev Disord , vol.35 , pp. 461-470
    • Fine, S.E.1    Weissman, A.2    Gerdes, M.3
  • 19
    • 0036348597 scopus 로고    scopus 로고
    • Epidemiological trends in rates of autism
    • Fombonne E (2002), Epidemiological trends in rates of autism. Mol Psychiatry 7:S4-S6
    • (2002) Mol Psychiatry , vol.7
    • Fombonne, E.1
  • 20
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: An update
    • Fombonne E (2003), Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord 33:365-382
    • (2003) J Autism Dev Disord , vol.33 , pp. 365-382
    • Fombonne, E.1
  • 21
    • 0035746533 scopus 로고    scopus 로고
    • Taking advantage of early diagnosis: Preschool children with the 22q11. 2 deletion
    • Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH (2001), Taking advantage of early diagnosis: preschool children with the 22q11. 2 deletion. Genet Med 3:40-44
    • (2001) Genet Med , vol.3 , pp. 40-44
    • Gerdes, M.1    Solot, C.2    Wang, P.P.3    McDonald-McGinn, D.M.4    Zackai, E.H.5
  • 24
    • 0031671548 scopus 로고    scopus 로고
    • A population study of chromosome 22q11 deletions in infancy
    • Goodship J, Cross I, Li Ling J, Wren C (1998), A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79:348-351
    • (1998) Arch Dis Child , vol.79 , pp. 348-351
    • Goodship, J.1    Cross, I.2    Li Ling, J.3    Wren, C.4
  • 25
    • 12144289483 scopus 로고    scopus 로고
    • Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome
    • Gothelf D, Presburger G, Zohar AH et al. (2004), Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am J Med Genet B Neuropsychiatr Genet 126:99-105
    • (2004) Am J Med Genet B Neuropsychiatr Genet , vol.126 , pp. 99-105
    • Gothelf, D.1    Presburger, G.2    Zohar, A.H.3
  • 26
    • 10744220251 scopus 로고    scopus 로고
    • Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study
    • Ivanov D, Kirov G, Norton N et al. (2003), Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study. Br J Psychiatry 183:409-413
    • (2003) Br J Psychiatry , vol.183 , pp. 409-413
    • Ivanov, D.1    Kirov, G.2    Norton, N.3
  • 27
    • 0034529505 scopus 로고    scopus 로고
    • Epidemiology of schizophrenia: The global burden of disease and disability
    • Jablensky A (2000), Epidemiology of schizophrenia: the global burden of disease and disability. Eur Arch Psychiatry Clin Neurosci 250:274-285
    • (2000) Eur Arch Psychiatry Clin Neurosci , vol.250 , pp. 274-285
    • Jablensky, A.1
  • 28
    • 0028171814 scopus 로고
    • Child development risk factors for adult schizophrenia in the British 1946 birth cohort
    • Jones P, Rodgers B, Murray R, Marmot M (1994), Child development risk factors for adult schizophrenia in the British 1946 birth cohort. Lancet 344:1398-1402
    • (1994) Lancet , vol.344 , pp. 1398-1402
    • Jones, P.1    Rodgers, B.2    Murray, R.3    Marmot, M.4
  • 29
    • 0030954243 scopus 로고    scopus 로고
    • Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (K-SADS-PL): Initial reliability and validity data
    • Kaufman J, Birmaher B, Brent D et al. (1997), Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (K-SADS-PL): initial reliability and validity data. J Am Acad Child Adolesc Psychiatry 36:980-988
    • (1997) J Am Acad Child Adolesc Psychiatry , vol.36 , pp. 980-988
    • Kaufman, J.1    Birmaher, B.2    Brent, D.3
  • 30
    • 0027997172 scopus 로고
    • Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C, Rutter M, Le Couteur A (1994), Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Couteur, A.3
  • 31
    • 0033033492 scopus 로고    scopus 로고
    • The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
    • McDonald-McGinn DM, Kirschner R, Goldmuntz E et al. (1999), The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11-24
    • (1999) Genet Couns , vol.10 , pp. 11-24
    • McDonald-McGinn, D.M.1    Kirschner, R.2    Goldmuntz, E.3
  • 32
    • 0031291657 scopus 로고    scopus 로고
    • The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; report on 181 patients
    • McDonald-McGinn DM, Larossa D, Goldmuntz E et al. (1997), The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1:99-108
    • (1997) Genet Test , vol.1 , pp. 99-108
    • McDonald-McGinn, D.M.1    Larossa, D.2    Goldmuntz, E.3
  • 33
    • 0035746391 scopus 로고    scopus 로고
    • Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
    • McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A et al. (2001), Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23-29
    • (2001) Genet Med , vol.3 , pp. 23-29
    • McDonald-McGinn, D.M.1    Tonnesen, M.K.2    Laufer-Cahana, A.3
  • 34
    • 4243057297 scopus 로고    scopus 로고
    • A systematic review of the incidence of schizophrenia: The distribution of rates and the influence of sex, urbanicity, migrant status and methodology
    • McGrath J, Saha S, Welham J, El Saadi O, MacCauley C, Chant D (2004), A systematic review of the incidence of schizophrenia: the distribution of rates and the influence of sex, urbanicity, migrant status and methodology. BMC Med 2:13
    • (2004) BMC Med , vol.2 , pp. 13
    • McGrath, J.1    Saha, S.2    Welham, J.3    El Saadi, O.4    MacCauley, C.5    Chant, D.6
  • 35
    • 0345433251 scopus 로고    scopus 로고
    • Concurrent validity of the Snijders-Oomen Nonverbal Intelligence Test 2.5-7 - Revised with the Wechsler Preschool and Primary Scale of Intelligence-Revised
    • Moore C, O'Keefe SL, Lawhon D, Tellegen P (1998), Concurrent validity of the Snijders-Oomen Nonverbal Intelligence Test 2.5-7 - revised with the Wechsler Preschool and Primary Scale of Intelligence-Revised. Psychol Rep 82:619-625
    • (1998) Psychol Rep , vol.82 , pp. 619-625
    • Moore, C.1    O'Keefe, S.L.2    Lawhon, D.3    Tellegen, P.4
  • 36
    • 0033063788 scopus 로고    scopus 로고
    • Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
    • Moss EM, Batshaw ML, Solot CB et al. (1999), Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J Pediatr 134:193-198
    • (1999) J Pediatr , vol.134 , pp. 193-198
    • Moss, E.M.1    Batshaw, M.L.2    Solot, C.B.3
  • 37
    • 0032882849 scopus 로고    scopus 로고
    • High rates of schizophrenia in adults with velo-cardio-facial syndrome
    • Murphy KC, Jones LA, Owen MJ (1999), High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940-945
    • (1999) Arch Gen Psychiatry , vol.56 , pp. 940-945
    • Murphy, K.C.1    Jones, L.A.2    Owen, M.J.3
  • 39
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
    • Oskarsdottir S, Vujic M, Fasth A (2004), Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89:148-151
    • (2004) Arch Dis Child , vol.89 , pp. 148-151
    • Oskarsdottir, S.1    Vujic, M.2    Fasth, A.3
  • 40
    • 0029853761 scopus 로고    scopus 로고
    • Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
    • Papolos DF, Faedda GL, Veit S et al. (1996), Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 153:1541-1547
    • (1996) Am J Psychiatry , vol.153 , pp. 1541-1547
    • Papolos, D.F.1    Faedda, G.L.2    Veit, S.3
  • 41
    • 0027989917 scopus 로고
    • Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives
    • Pulver AE, Nestadt G, Goldberg R et al. (1994), Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 182:476-478
    • (1994) J Nerv Ment Dis , vol.182 , pp. 476-478
    • Pulver, A.E.1    Nestadt, G.2    Goldberg, R.3
  • 43
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • Ryan AK, Goodship JA, Wilson DI et al. (1997), Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804
    • (1997) J Med Genet , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3
  • 44
    • 0034161932 scopus 로고    scopus 로고
    • Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
    • Shaikh TH, Kurahashi H, Saitta SC et al. (2000), Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489-501
    • (2000) Hum Mol Genet , vol.9 , pp. 489-501
    • Shaikh, T.H.1    Kurahashi, H.2    Saitta, S.C.3
  • 46
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen RJ, Goldberg RB, Lewin ML et al. (1978), A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56-62
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3
  • 47
    • 11144354655 scopus 로고    scopus 로고
    • 22q11 deletion syndrome in childhood onset schizophrenia: An update
    • Sporn A, Addington A, Reiss AL et al. (2004), 22q11 deletion syndrome in childhood onset schizophrenia: an update. Mol Psychiatry 9:225-226
    • (2004) Mol Psychiatry , vol.9 , pp. 225-226
    • Sporn, A.1    Addington, A.2    Reiss, A.L.3
  • 48
    • 2342515485 scopus 로고    scopus 로고
    • Pervasive developmental disorder and childhood-onset schizophrenia: Comorbid disorder or a phenotypic variant of a very early onset illness?
    • Sporn AL, Addington AM, Gogtay N et al. (2004), Pervasive developmental disorder and childhood-onset schizophrenia: comorbid disorder or a phenotypic variant of a very early onset illness? Biol Psychiatry 55:989-994
    • (2004) Biol Psychiatry , vol.55 , pp. 989-994
    • Sporn, A.L.1    Addington, A.M.2    Gogtay, N.3
  • 49
    • 0031009068 scopus 로고    scopus 로고
    • Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
    • Swillen A, Devriendt K, Legius E et al. (1997), Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 34:453-458
    • (1997) J Med Genet , vol.34 , pp. 453-458
    • Swillen, A.1    Devriendt, K.2    Legius, E.3
  • 52
    • 0027269764 scopus 로고
    • Conceptualizing "borderline syndrome of childhood" and "childhood schizophrenia" as a developmental disorder
    • Towbin KE, Dykens EM, Pearson GS, Cohen DJ (1993), Conceptualizing "borderline syndrome of childhood" and "childhood schizophrenia" as a developmental disorder. J Am Acad Child Adolesc Psychiatry 32:775-782
    • (1993) J Am Acad Child Adolesc Psychiatry , vol.32 , pp. 775-782
    • Towbin, K.E.1    Dykens, E.M.2    Pearson, G.S.3    Cohen, D.J.4
  • 54
    • 0018253837 scopus 로고
    • Patterns of childhood social development in adult schizophrenics
    • Watt NF (1978), Patterns of childhood social development in adult schizophrenics. Arch Gen Psychiatry 35:160-165
    • (1978) Arch Gen Psychiatry , vol.35 , pp. 160-165
    • Watt, N.F.1
  • 56
    • 0018740511 scopus 로고
    • Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification
    • Wing L, Gould J (1979), Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification. J Autism Dev Disord 9:11-29
    • (1979) J Autism Dev Disord , vol.9 , pp. 11-29
    • Wing, L.1    Gould, J.2


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