Behavioral and psychiatric manifestations in Cornelia de Lange syndrome

Current Opinion in Psychiatry

Volumn 30, Issue 2, 2017, Pages 92-96

  Grados, Marco A ^a   Alvi, Mustafa H ^b   Srivastava, Siddharth ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JINNAH SINDH MEDICAL UNIVERSITY   (Pakistan)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Anxiety; Repetitive behaviors; Self injury; Sleep problems

Indexed keywords

ADAPTIVE BEHAVIOR; ANXIETY DISORDER; AUTISM; AUTOMUTILATION; BEHAVIOR DISORDER; BEHAVIORAL OBSERVATION; CLINICAL FEATURE; COMPULSION; DAYTIME SOMNOLENCE; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; HUMAN; HYPERACTIVITY; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LESCH NYHAN SYNDROME; MENTAL DISEASE; MENTAL PATIENT; PHENOMENOLOGY; QUALITY OF LIFE; REVIEW; SLEEP DISORDER; SPEECH DISORDER; VERBAL BEHAVIOR; ADULT; AUTISM SPECTRUM DISORDER; CHILD; DEVELOPMENTAL DISABILITIES; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; LANGUAGE DEVELOPMENT DISORDERS; MENTAL DISORDERS; PSYCHOLOGY; SELF-INJURIOUS BEHAVIOR; STEREOTYPY;

ADULT; AUTISM SPECTRUM DISORDER; CHILD; DE LANGE SYNDROME; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; EARLY DIAGNOSIS; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MENTAL DISORDERS; QUALITY OF LIFE; SELF-INJURIOUS BEHAVIOR; STEREOTYPED BEHAVIOR;

EID: 85012297123     PISSN: 09517367     EISSN: 14736578     Source Type: Journal    
DOI: 10.1097/YCO.0000000000000311     Document Type: Review

References (54)

1. Gause M, Webber HA, Misulovin Z, et al Functional links between Drosophila nipped-B and cohesin in somatic and meiotic cells. Chromosoma 2008; 117:51-66.
2. Jackson L, Kline AD, Barr M.A., et al. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47:940-946.
3. De Lange C. Sur un type nouveau de degeneration (Typus Amstelodamensis). Arch d Med d Enf 1933; 36:713-719.
4. Shear CS, Nyhan WL, Kirman B.H., et al. Self-mutilative behavior as a feature of the de Lange syndrome. J Pediatr 1971; 78:506-509.
5. Nyhan WL. Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research, May 1, 1971. Pediatr Res 1972; 6:1-9.
6. Krantz ID, McCallum J, DeScipio C., et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melano-gaster nipped-B. Nat Genet 2004; 36:631-635.
7. Mannini L, Cucco F, Quarantotti V., et al. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 2013; 34:1589-1596.
8. Liu J, Krantz ID Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 2009; 76:303-314.
9. Wu Y, Gause M, Xu D., et al. Drosophila Nipped-B mutants model Cornelia de Lange syndrome in growth and behavior. PLoS Genet 2015; 11:e1005655.
10. Rollins RA, Morcillo P, Dorsett D., et al. Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 1999; 152:577-593.
11. Yamaguchi K, Ishitobi F. Brain dysgenesis in Cornelia de Lange syndrome. Clin Neuropathol 1999; 18:99-105.
12. Tanaka M. Fins into limbs: Autopod acquisition and anterior elements reduction by modifying gene networks involving 5'Hox, Gli3, and Shh. Dev Biol 2016; 413:1-7.
13. Hayashi S, Akiyama R, Wong J., et al. Gata6-dependent GLI3 repressor function is essential in anterior limb progenitor cells for proper limb development. PLoS Genet 2016; 12:e1006138.
14. Anwar S, Minhas R, Ali S., et al. Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development. Dev Growth Differ 2015; 57:570-580.
15. Abbasi AA, Minhas R, Schmidt A., et al. Cis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs. Dev Growth Differ 2013; 55:699-709.
16. Vuilleumier N, Kövari E, Michon A., et al. Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathol 2002; 104:327-332.
17. Roshan Lal T.R., Kliewer MA, Lopes T, et al Cornelia de Lange syndrome: correlation of brain MRIfindings with behavioral assessment. Am J Med Genet C Semin Med Genet 2016; 172:190-197.
18. Kline AD, Krantz ID, Sommer A, et al Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007; 143A:1287-1296.
19. Review. Erratum in: Am J Med Genet A. 2008 Oct 15; 146A(20):2713.
20. Hawley PP, Jackson LG, Kurnit D.M., et al. Sixty-four patients with Brachmannde Lange syndrome: a survey. Am J Med Genet 1985; 20:453-459.
21. Pehlivan D, Hullings M, Carvalho C.M., et al. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotypephenotype correlation. Genet Med 2012; 14:313-322.
22. Oliver C, Arron K, Sloneem J., et al. Behavioural phenotype of Cornelia de Lange syndrome: case-control study. Br J Psychiatry 2008; 193:466-470.
23. Srivastava S, Landy-Schmitt C, Clark B., et al. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am J Med Genet A 2014; 164A:1400-1410.
24. Berney TP, Ireland M, Burn J., et al. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child 1999; 81:333-336.
25. 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; 43:568-575.
26. Gillis LA, McCallum J, Kaur M., et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004; 75:610-623.
27. Cereda A, Mariani M, Rebora P., et al. A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2016; 172:179-189.
28. Morris CA. The behavioral phenotype of Williams syndrome: a recognizable pattern of neurodevelopment. Am J Med Genet C Semin Med Genet 2010; 154C:427-431.
29. Silverman W. Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev 2007; 13:228-236.
30. Joubin J, Pettrone CF, Pettrone F.A., et al. Cornelia de Lange's syndrome. A review article (with emphasis on orthopedic significance). Clin Orthop Relat Res 1982; 12:180-185.
31. Goodban MT. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet 1993; 47:1059-1063.
32. Sarimski K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. J Intellect Disabil Res 1997; 41 (Pt 1): 70-75.
33. Cameron TH, Kelly DP Normal language skills and normal intelligence in a child with de Lange syndrome. J Speech Hear Disord 1988; 53:219-222.
34. 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; 20:189-198.
35. Elsabbagh M, Johnson MH Autism and the social brain: the first-year puzzle. Biol Psychiatry 2016; 80:94-99.
36. Hazlett HC, Poe MD, Lightbody A.A., et al. Teasing apart the heterogeneity of autism: same behavior, different brains in toddlers with fragile X syndrome and autism. J Neurodev Disord 2009; 1:81-90.
37. Nakanishi M, Deardorff MA, Clark D, et al Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A 2012; 158A:1841-1847.
38. Ajmone PF, 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 Neuropsychiatr Genet 2014; 165B:223-229.
39. Cochran L, Moss J, Nelson L., et al. Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: results from a 2.5 year follow-up. Am J Med Genet C Semin Med Genet 2015; 169:188-197.
40. Schretlen DJ, Ward J, Meyer S.M., et al. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol 2005; 47:673-677.
41. Srivastava S, Clark B, Landy-Schmitt C, et al. Repetitive and self-injurious behaviors in children with Cornelia de Lange syndrome; submitted.
42. Luzzani S, Macchini F, Valadè A, et al. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 2003; 119A:283-287; 3.
43. Mariani M, Decimi V, Bettini L.R., et al. Adolescents and adults affected by Cornelia de Lange syndrome: a report of 73 Italian patients. Am J Med Genet C Semin Med Genet 2016; 172:206-213.
44. Oliver C, Sloneem J, Hall S., et al. Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. J Intellect Disabil Res 2009; 53:575-589.
45. Parisi L, Di Filippo T, Roccella M, et al Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome. Ment Illn 2015; 7:5988.
46. Hyman P, Oliver C, Hall S., et al. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard 2002; 107:146-154.
47. Kline AD, Grados M, Sponseller P., et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007; 145C:248-260.
48. Sloneem J, Arron K, Hall S.S., et al. Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events. J Intellect Disabil Res 2009; 53:590-603.
49. Richards C, Moss J, O'Farrell L, et al. Social anxiety in Cornelia de Lange syndrome. J Autism Dev Disord 2009; 39:1155-1162.
50. Basile E, Villa L, Selicorni A., et al. The behavioural phenotype of Cornelia de Lange syndrome: a study of 56 individuals. J Intellect Disabil Res 2007; 51 (Pt 9):671-681.
51. Hall SS, Arron K, Sloneem J., et al. Health and sleep problems in Cornelia de Lange syndrome: a case control study. J Intellect Disabil Res 2008; 52 (Pt 5):458-468.
52. Zambrelli E, Fossati C, Turner K., et al. Sleep disorders in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2016; 172:214-221.
53. Rajan R, Benke JR, Kline A.D., et al. Insomnia in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 2012; 76:972-975.
54. Stavinoha RC, Kline AD, Levy H.P., et al. Characterization of sleep disturbance in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 2011; 75:215-218.