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Volumn 59, Issue 4, 2017, Pages 361-366

Behaviour in Cornelia de Lange syndrome: a systematic review

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTIVE BEHAVIOR; AUTISM; AUTOMUTILATION; BEHAVIOR; COGNITION; DE LANGE SYNDROME; GENE MUTATION; HEARING; HUMAN; INTELLECTUAL IMPAIRMENT; PHARMACEUTICAL CARE; PHENOTYPE; PHYSICAL CAPACITY; PRIORITY JOURNAL; REVIEW; SYSTEMATIC REVIEW; VISION; BIBLIOGRAPHIC DATABASE; COMPLICATION; MENTAL DISORDERS; PSYCHOLOGY; QUALITY OF LIFE; STATISTICS AND NUMERICAL DATA;

EID: 85006814748     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.13361     Document Type: Review
Times cited : (20)

References (49)
  • 1
    • 2642542322 scopus 로고    scopus 로고
    • Cornelia de Lange Syndrome is caused by mutations in NIBL, the human homolog of Drosophila melanogaster Nipped-B
    • Krantz ID, McCallum J, DeScipio C, et al. Cornelia de Lange Syndrome is caused by mutations in NIBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Gene 2004; 36: 631–35.
    • (2004) Nat Gene , vol.36 , pp. 631-635
    • Krantz, I.D.1    McCallum, J.2    DeScipio, C.3
  • 2
    • 33847196427 scopus 로고    scopus 로고
    • Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange Syndrome with predominant mental retardation
    • Deardorff MA, Kaur M, Yaeger D, et al. Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange Syndrome with predominant mental retardation. Am J Hum Genet 2007; 80: 485–94.
    • (2007) Am J Hum Genet , vol.80 , pp. 485-494
    • Deardorff, M.A.1    Kaur, M.2    Yaeger, D.3
  • 3
    • 84864144991 scopus 로고    scopus 로고
    • Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome
    • Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A 2012; 158A: 1841–47.
    • (2012) Am J Med Genet A , vol.158A , pp. 1841-1847
    • Nakanishi, M.1    Deardorff, M.A.2    Clark, D.3    Levy, S.E.4    Krantz, I.5    Pipan, M.6
  • 4
    • 38849097810 scopus 로고    scopus 로고
    • Otitis media with effusion and hearing loss in children with Cornelia de Lange Syndrome
    • Marchisio P, Selicorni A, Pignataro L, et al. Otitis media with effusion and hearing loss in children with Cornelia de Lange Syndrome. Am J Med Genet Part A 2008; 146A: 426–32.
    • (2008) Am J Med Genet Part A , vol.146A , pp. 426-432
    • Marchisio, P.1    Selicorni, A.2    Pignataro, L.3
  • 5
    • 67449115721 scopus 로고    scopus 로고
    • Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange Syndrome
    • Wulffaert J, van Berckelaer-Onnes I, Kroonenberg P, Scholte E, Bhuiyan Z, Hennekam R. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange Syndrome. J Intellect Disabil Res 2009; 53: 604–19.
    • (2009) J Intellect Disabil Res , vol.53 , pp. 604-619
    • Wulffaert, J.1    van Berckelaer-Onnes, I.2    Kroonenberg, P.3    Scholte, E.4    Bhuiyan, Z.5    Hennekam, R.6
  • 6
    • 0027429313 scopus 로고
    • Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange Syndrome
    • Goodban MT. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange Syndrome. Am J Med Genet 1993; 47: 1059–63.
    • (1993) Am J Med Genet , vol.47 , pp. 1059-1063
    • Goodban, M.T.1
  • 7
    • 34547923133 scopus 로고    scopus 로고
    • The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
    • Basile E, Villa L, Selicorni A, Molteni M. The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals. J Intellect Disabil Res 2007; 51: 671–81.
    • (2007) J Intellect Disabil Res , vol.51 , pp. 671-681
    • Basile, E.1    Villa, L.2    Selicorni, A.3    Molteni, M.4
  • 8
    • 57449106631 scopus 로고    scopus 로고
    • The behavioural phenotype of Cornelia de Lange Syndrome: case-control study
    • Oliver C, Arron K, Sloneem J, Hall S. The behavioural phenotype of Cornelia de Lange Syndrome: case-control study. Br J Psychiatry 2008; 193: 466–70.
    • (2008) Br J Psychiatry , vol.193 , pp. 466-470
    • Oliver, C.1    Arron, K.2    Sloneem, J.3    Hall, S.4
  • 9
    • 84902121429 scopus 로고    scopus 로고
    • A longitudinal follow-up study of affect in children and adults with Cornelia de Lange Syndrome
    • Nelson L, Moss J, Oliver C. A longitudinal follow-up study of affect in children and adults with Cornelia de Lange Syndrome. Am J Intellect Dev Disabil 2014; 119: 235–52.
    • (2014) Am J Intellect Dev Disabil , vol.119 , pp. 235-252
    • Nelson, L.1    Moss, J.2    Oliver, C.3
  • 10
    • 0017820094 scopus 로고
    • A study of six cases of de Lange Amsterdam Dwarf Syndrome, with special attention to voice, speech and language characteristics
    • Fraser WI, Campbell BM. A study of six cases of de Lange Amsterdam Dwarf Syndrome, with special attention to voice, speech and language characteristics. Dev Med Child Neurol 1978; 20: 189–98.
    • (1978) Dev Med Child Neurol , vol.20 , pp. 189-198
    • Fraser, W.I.1    Campbell, B.M.2
  • 11
    • 0032835107 scopus 로고    scopus 로고
    • Behavioral phenotype of Cornelia de Lange syndrome
    • Berney TP, Ireland M, Burn J. Behavioral phenotype of Cornelia de Lange syndrome. Arch Dis Child 1999; 81: 333–36.
    • (1999) Arch Dis Child , vol.81 , pp. 333-336
    • Berney, T.P.1    Ireland, M.2    Burn, J.3
  • 12
    • 18244408870 scopus 로고    scopus 로고
    • Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome
    • Hyman P, Oliver C, Hall S. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard 2002; 107: 146–54.
    • (2002) Am J Ment Retard , vol.107 , pp. 146-154
    • Hyman, P.1    Oliver, C.2    Hall, S.3
  • 13
    • 84863827334 scopus 로고    scopus 로고
    • Characteristics of autism spectrum disorder in Cornelia de Lange Syndrome
    • Moss J, Howlin P, Magiati I, Oliver C. Characteristics of autism spectrum disorder in Cornelia de Lange Syndrome. J Child Psychol Psychiatry 2012; 53: 883–91.
    • (2012) J Child Psychol Psychiatry , vol.53 , pp. 883-891
    • Moss, J.1    Howlin, P.2    Magiati, I.3    Oliver, C.4
  • 14
    • 16844371502 scopus 로고    scopus 로고
    • The association between environmental events and self-injurious behavior in Cornelia de Lange Syndrome
    • Moss J, Oliver C, Hall S, Arron K, Sloneem J, Petty K. The association between environmental events and self-injurious behavior in Cornelia de Lange Syndrome. J Intellect Disabil Res 2005; 49: 269–77.
    • (2005) J Intellect Disabil Res , vol.49 , pp. 269-277
    • Moss, J.1    Oliver, C.2    Hall, S.3    Arron, K.4    Sloneem, J.5    Petty, K.6
  • 15
    • 33646856184 scopus 로고    scopus 로고
    • Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange Syndrome
    • Arron K, Oliver C, Hall S, Sloneem J, Forman D, McClintock K. Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange Syndrome. Am J Ment Retard 2006; 111: 184–92.
    • (2006) Am J Ment Retard , vol.111 , pp. 184-192
    • Arron, K.1    Oliver, C.2    Hall, S.3    Sloneem, J.4    Forman, D.5    McClintock, K.6
  • 17
    • 0035748532 scopus 로고    scopus 로고
    • The Behavior Problems Inventory: an instrument for the assessment of self-injury, stereotyped behavior, and aggression/destruction in individuals with developmental disabilities
    • Rojahn J, Matson JL, Lott D, Esbensen AJ, Smalls Y. The Behavior Problems Inventory: an instrument for the assessment of self-injury, stereotyped behavior, and aggression/destruction in individuals with developmental disabilities. J Autism Dev Disord 2001; 31: 577–88.
    • (2001) J Autism Dev Disord , vol.31 , pp. 577-588
    • Rojahn, J.1    Matson, J.L.2    Lott, D.3    Esbensen, A.J.4    Smalls, Y.5
  • 19
    • 0033802632 scopus 로고    scopus 로고
    • The Autism Diagnostic Observation Schedule -Generic: a standard measure of social and communication deficits associated with the spectrum of autism
    • Lord C, Risi S, Lambrecht L, et al. The Autism Diagnostic Observation Schedule -Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205–23.
    • (2000) J Autism Dev Disord , vol.30 , pp. 205-223
    • Lord, C.1    Risi, S.2    Lambrecht, L.3
  • 21
    • 0015149738 scopus 로고
    • Self-mutilative behavior in the Cornelia de Lange Syndrome
    • Bryson Y, Sakati N, Nyhan WL, Fish CH. Self-mutilative behavior in the Cornelia de Lange Syndrome. Am J Ment Defic 1971; 76: 319–24.
    • (1971) Am J Ment Defic , vol.76 , pp. 319-324
    • Bryson, Y.1    Sakati, N.2    Nyhan, W.L.3    Fish, C.H.4
  • 22
    • 0027435930 scopus 로고
    • Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
    • Moeschler JB, Graham JM Jr. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals. Am J Med Genet 1993; 47: 969–76.
    • (1993) Am J Med Genet , vol.47 , pp. 969-976
    • Moeschler, J.B.1    Graham, J.M.2
  • 23
    • 0030847322 scopus 로고    scopus 로고
    • Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome
    • Sarimski K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. J Intellect Disabil Res 1997; 41: 70–75.
    • (1997) J Intellect Disabil Res , vol.41 , pp. 70-75
    • Sarimski, K.1
  • 25
    • 42449095521 scopus 로고    scopus 로고
    • Health and sleep problems in Cornelia de Lange Syndrome: a case control study
    • Hall S, Arron K, Sloneem J, Oliver C. Health and sleep problems in Cornelia de Lange Syndrome: a case control study. J Intellect Disabil Res 2008; 52: 458–68.
    • (2008) J Intellect Disabil Res , vol.52 , pp. 458-468
    • Hall, S.1    Arron, K.2    Sloneem, J.3    Oliver, C.4
  • 26
    • 70449435870 scopus 로고    scopus 로고
    • Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome
    • Olioso G, Passarini A, Atzeri F, et al. Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome. Am J Med Genet A 2009; 149A: 2532–37.
    • (2009) Am J Med Genet A , vol.149A , pp. 2532-2537
    • Olioso, G.1    Passarini, A.2    Atzeri, F.3
  • 27
    • 62249223967 scopus 로고    scopus 로고
    • The prevalence and phenomenology of repetitive behavior in genetic syndromes
    • Moss J, Oliver C, Arron K, Burbidge C, Berg K. The prevalence and phenomenology of repetitive behavior in genetic syndromes. J Autism Dev Disord 2009; 39: 572–88.
    • (2009) J Autism Dev Disord , vol.39 , pp. 572-588
    • Moss, J.1    Oliver, C.2    Arron, K.3    Burbidge, C.4    Berg, K.5
  • 28
    • 84885157538 scopus 로고    scopus 로고
    • Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri Du Chat syndromes
    • Moss J, Howlin P, Hastings RP, et al. Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri Du Chat syndromes. Am J Intellect Dev Disabil 2013; 118: 262–83.
    • (2013) Am J Intellect Dev Disabil , vol.118 , pp. 262-283
    • Moss, J.1    Howlin, P.2    Hastings, R.P.3
  • 29
    • 33745909174 scopus 로고    scopus 로고
    • Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience
    • Bhuiyan ZA, Klein M, Hammond P, et al. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Genet 2006; 43: 568–75.
    • (2006) J Med Genet , vol.43 , pp. 568-575
    • Bhuiyan, Z.A.1    Klein, M.2    Hammond, P.3
  • 30
    • 84897537565 scopus 로고    scopus 로고
    • Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results
    • Ajmone P, Rigamonti C, Dall'Ara F, et al. Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results. Am J Med Genet B 2014; 165B: 223–29.
    • (2014) Am J Med Genet B , vol.165B , pp. 223-229
    • Ajmone, P.1    Rigamonti, C.2    Dall'Ara, F.3
  • 31
    • 77950443282 scopus 로고    scopus 로고
    • Mutations and variants in the Cohesion factor genes NIPBL, SMC1A and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange Syndrome
    • Pié J, Gil-Rodríguez MC, Ciero M, et al. Mutations and variants in the Cohesion factor genes NIPBL, SMC1A and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange Syndrome. Am J Med Genet A 2010; 152A: 924–29.
    • (2010) Am J Med Genet A , vol.152A , pp. 924-929
    • Pié, J.1    Gil-Rodríguez, M.C.2    Ciero, M.3
  • 34
    • 67449126276 scopus 로고    scopus 로고
    • Self-injurious behaviour in Cornelia de Lange Syndrome.: 1. Prevalence and phenomenology
    • Oliver C, Sloneem J, Hall S, Arron K. Self-injurious behaviour in Cornelia de Lange Syndrome.: 1. Prevalence and phenomenology. J Intellect Disabil Res 2009; 53: 575–89.
    • (2009) J Intellect Disabil Res , vol.53 , pp. 575-589
    • Oliver, C.1    Sloneem, J.2    Hall, S.3    Arron, K.4
  • 35
    • 22244477410 scopus 로고    scopus 로고
    • The early development of self-injurious behaviour: evaluating the role of social reinforcement
    • Oliver C, Hall S, Murphy G. The early development of self-injurious behaviour: evaluating the role of social reinforcement. J Intellect Disabil Res 2005; 49: 591–99.
    • (2005) J Intellect Disabil Res , vol.49 , pp. 591-599
    • Oliver, C.1    Hall, S.2    Murphy, G.3
  • 36
    • 18344378417 scopus 로고    scopus 로고
    • Behavioral treatment of self-injury, 1964–2000
    • Kahng SW, Iwata BA, Lewin AB. Behavioral treatment of self-injury, 1964–2000. Am J Ment Retard 2002; 107: 212–21.
    • (2002) Am J Ment Retard , vol.107 , pp. 212-221
    • Kahng, S.W.1    Iwata, B.A.2    Lewin, A.B.3
  • 37
    • 0015897617 scopus 로고
    • A method for rating behavior characteristics for use in larger scale studies of mental handicap
    • Kushlick A, Blunden R, Cox G. A method for rating behavior characteristics for use in larger scale studies of mental handicap. Psychol Med 1973; 3: 466–78.
    • (1973) Psychol Med , vol.3 , pp. 466-478
    • Kushlick, A.1    Blunden, R.2    Cox, G.3
  • 38
    • 0026249625 scopus 로고
    • Treating behavior problems with communication
    • Durand VM, Berotti D. Treating behavior problems with communication. Am Speech Language Assoc 1991; 33: 37–39.
    • (1991) Am Speech Language Assoc , vol.33 , pp. 37-39
    • Durand, V.M.1    Berotti, D.2
  • 39
    • 0041827093 scopus 로고    scopus 로고
    • Risk markers associated with challenging behaviours in people with intellectual disabilities: a meta-analytic study
    • McClintock K, Hall S, Oliver C. Risk markers associated with challenging behaviours in people with intellectual disabilities: a meta-analytic study. J Intellect Disabil Res 2003; 47: 405–16.
    • (2003) J Intellect Disabil Res , vol.47 , pp. 405-416
    • McClintock, K.1    Hall, S.2    Oliver, C.3
  • 40
    • 3543042566 scopus 로고    scopus 로고
    • Enhancing the interactive competence of deafblind children: do intervention effects endure?
    • Janssen MJ, Riksen-Walraven J, Van Dijk JM. Enhancing the interactive competence of deafblind children: do intervention effects endure? J Dev Phys Disabil 2004; 16: 73–94.
    • (2004) J Dev Phys Disabil , vol.16 , pp. 73-94
    • Janssen, M.J.1    Riksen-Walraven, J.2    Van Dijk, J.M.3
  • 41
    • 79958816192 scopus 로고    scopus 로고
    • Physical conditions and challenging behaviour in people with intellectual disability: a systematic review
    • de Winter CF, Jansen AAC, Evenhuis HM. Physical conditions and challenging behaviour in people with intellectual disability: a systematic review. J Intellect Disabil Res 2011; 55: 675–98.
    • (2011) J Intellect Disabil Res , vol.55 , pp. 675-698
    • de Winter, C.F.1    Jansen, A.A.C.2    Evenhuis, H.M.3
  • 43
    • 0003472502 scopus 로고    scopus 로고
    • 5th ed, Arlington, VA, American Psychiatric Publishing
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Arlington, VA: American Psychiatric Publishing, 2013.
    • (2013) Diagnostic and Statistical Manual of Mental Disorders
  • 44
    • 78751471413 scopus 로고    scopus 로고
    • Prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes
    • Arron K, Oliver C, Berg K, Moss J, Burbidge C. Prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes. J Intellect Disabil Res 2011; 55: 109–20.
    • (2011) J Intellect Disabil Res , vol.55 , pp. 109-120
    • Arron, K.1    Oliver, C.2    Berg, K.3    Moss, J.4    Burbidge, C.5


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