Cornelia de Lange Syndrome and Psychiatric’s Assistance

Katharina Merry Apriliani, Yunias Setiawati

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Cornelia de Lange's syndrome (CdLS) is a genetic disorder characterized by developmental disorders in several organ systems, including the brain, bones, digestion, immunity, endocrine, and others. This syndrome is mainly caused by mutations in the NIPBL, SMC3, and SMC1A genes. CdLS are generally comorbid with developmental or intellectual-level disorders, autism spectrum disorders, self-injury behavior, difficulty speaking, anxiety, hyperactivity, and sleep problems. This CdLS has a significant impact on the quality of life and maladaptive function in patients, as well as causing psychological disorders for families. Therefore, the need for psychiatric assistance for family psychoeducation, psycho-social interventions and cognitive-behavioral education.


Cornelia de Lange Syndrome, Comorbidity, Autism, Psychiatric’s assistance

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Sarogni P, Pallotta MM, Musio A. Cornelia de Lange

syndrome: From molecular diagnosis to therapeutic

approach. J Med Genet. 2019;1–7.

Kline AD, Krantz ID, Deardorff MA, Shirahige K,

Dorsett D, Gerton JL, et al. Cornelia de Lange syndrome

and molecular implications of the cohesin complex:

Abstracts from the 7th biennial scientific and educational

symposium 2016. Am J Med Genet Part A.


Mulder PA, Huisman SA, Hennekam RC, Oliver C, van

Balkom IDC, Piening S. Behaviour in Cornelia de Lange

syndrome: a systematic review. Dev Med Child Neurol.


Parisi L, Di Filippo T, Roccella M. Behavioral

phenotype and autism spectrum disorders in Cornelia de

Lange syndrome. Ment Illn. 2015;7(2):32–5.

Grados MA, Alvi MH, Srivastava S. Behavioral and

psychiatric manifestations in Cornelia de Lange

syndrome. 2017;30(2):92–6.

Crawford H, Waite J, Oliver C. Diverse Profiles of

Anxiety Related Disorders in Fragile X, Cornelia de

Lange and Rubinstein–Taybi Syndromes. J Autism Dev

Disord. 2017;47(12):3728–40.

Ajmone PF, Rigamonti C, Dall’Ara F, Monti F, Vizziello

P, Milani D, et al. Communication, cognitive development

and behavior in children with cornelia de lange syndrome

(CdLS): Preliminary results. Am J Med Genet Part B

Neuropsychiatr Genet. 2014;165(3):223–9.

Moss J, Nelson L, Powis L, Waite J, Richards C, Oliver C.

A comparative study of sociability in Angelman, Cornelia

de Lange, Fragile X, Down and Rubinstein Taybi

syndromes and autism spectrum disorder. Am J Intellect

Dev Disabil. 2016;121(6):465–86.

Elsabbagh M, Johnson MH. Autism and the Social Brain:

The First-Year Puzzle. Biol Psychiatry [Internet].

;80(2):94–9. Available from:

Srivastava S, Landy-Schmitt C, Clark B, Kline AD,

Specht M, Grados MA. Autism traits in children and

adolescents with Cornelia de Lange syndrome. Am J Med

Genet Part A. 2014;164(6):1400–10.

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 Part A. 2012;158 A(8):1841–

Moss J, Howlin P, Magiati I, Oliver C. Characteristics of

autism spectrum disorder in Cornelia de Lange syndrome.

J Child Psychol Psychiatry Allied Discip.


Moss J, Howlin P, Hastings RP, Beaumont S, Griffith

GM, Petty J, 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.


Adams D, Clarke S, Griffith G, Howlin P, Moss J, Petty J,

et al. Mental health and well-being in mothers of children

with rare genetic syndromes showing chronic challenging

behavior: A cross-sectional and longitudinal study. Am J

Intellect Dev Disabil. 2018;123(3):241–53.

Griffith GM, Hastings RP, Oliver C, Howlin P, Moss J,

Petty J, et al. Psychological well-being in parents of

children with Angelman, Cornelia de Lange and Cri du

Chat syndromes. J Intellect Disabil Res.



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