Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Nature Reviews Genetics

Volumn 19, Issue 10, 2018, Pages 649-666

  Kline, Antonie D ^a   Moss, Joanna F ^b   Selicorni, Angelo ^c   Bisgaard, Anne Marie ^d   Deardorff, Matthew A ^e   Gillett, Peter M ^f   Ishman, Stacey L ^g   Kerr, Lynne M ^h   Levin, Alex V ⁱ   Mulder, Paul A ^j   Ramos, Feliciano J ^k   Wierzba, Jolanta ^l   Ajmone, Paola Francesca ^m   Axtell, David ⁿ   Blagowidow, Natalie ^o   Cereda, Anna ^p   Costantino, Antonella ^m   Cormier Daire, Valerie ^q   FitzPatrick, David ^r   Grados, Marco ^s   Groves, Laura ^b   Guthrie, Whitney ^t   Huisman, Sylvia ^u   Kaiser, Frank J ^v   Koekkoek, Gerritjan ^w   Levis, Mary ^x   Mariani, Milena ^y   McCleery, Joseph P ^t   Menke, Leonie A ^u   Metrena, Amy ^z   O’Connor, Julia ^s   Oliver, Chris ^b   Pie, Juan ^k   Piening, Sigrid ^j   Potter, Carol J ^aa   Quaglio, Ana L ^ab   Redeker, Egbert ^u   Richman, David ^ac   Rigamonti, Claudia ^m   Shi, Angell ^ad   Tümer, Zeynep ^d   Van Balkom, Ingrid D C ^j,ae   Hennekam, Raoul C ^u   more..

^a Greater Baltimore (MD) Medical Center   (United States)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c ASST Lariana ^*  (Italy)

^d Rigshospitalet   (Denmark)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^g UNIVERSITY OF CINCINNATI   (United States)

^h UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

ⁱ THOMAS JEFFERSON UNIVERSITY   (United States)

^j Lentis Psychiatric Institute   (Netherlands)

^k UNIVERSITY OF ZARAGOZA   (Spain)

^l MEDICAL UNIVERSITY OF GDANSK   (Poland)

^m FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

ⁿ CdLS Foundation UK and Ireland   (United Kingdom)

^o GREATER BALTIMORE MEDICAL CENTER   (United States)

^p PAPA GIOVANNI XXIII HOSPITAL   (Italy)

^q INSERM   (France)

^r UNIVERSITY OF EDINBURGH   (United Kingdom)

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

^t CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^u UNIVERSITY OF AMSTERDAM   (Netherlands)

^v UNIVERSITY OF LÜBECK   (Germany)

^w CdLS World Federation s   (Netherlands)

^x Wicomico County Board of Education   (United States)

^y SAN GERARDO HOSPITAL   (Italy)

^z Danbury High School   (United States)

^aa NATIONWIDE CHILDREN S HOSPITAL   (United States)

^ab Hospital del Este   (Argentina)

^ac TEXAS TECH UNIVERSITY   (United States)

^ad THOMAS JEFFERSON UNIVERSITY   (United States)

^ae UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN; HISTONE DEACETYLASE 8;

ADAPTIVE BEHAVIOR; AGGRESSIVENESS; AGING; ANKRD11 GENE; ANXIETY DISORDER; AUTOMUTILATION; BEHAVIOR DISORDER; BRD4 GENE; CLINICAL FEATURE; COMMUNICATION DISORDER; COMPULSION; CONDUCTION DEAFNESS; CONFUSION; CONSENSUS; DE LANGE SYNDROME; DECISION MAKING; DISEASE SEVERITY ASSESSMENT; DYSTONIA; EYE DISEASE; FOLLOW UP; FRACTURE; GASTROINTESTINAL DISEASE; GENE; GENETIC SCREENING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; HYPERSENSITIVITY; INTELLECTUAL IMPAIRMENT; LIMB DEFECT; MEDICAL CARE; MOLECULAR DIAGNOSIS; MOOD DISORDER; MOSAICISM; NIPBL GENE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RAD21 GENE; RECURRENCE RISK; REVIEW; SECRETORY OTITIS MEDIA; SEIZURE; SMC1A GENE; SMC3 GENE; TRANSITION TO ADULT CARE; VISUAL IMPAIRMENT; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOPHYSIOLOGY;

CONSENSUS; DE LANGE SYNDROME; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION;

EID: 85049684939     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/s41576-018-0031-0     Document Type: Review

References (195)

1. De Lange, C. Sur un type nouveau de degenerescence (typus Amsterlodamensis). Arch. Med. Enfants 36, 713–719 (1933)
2. Kline, A. D. et al. Natural history of aging in Cornelia de Lange syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 145C, 248–260 (2007). This is a hallmark paper in the description of the physical signs and symptoms in individuals with CdLS
3. Huisman, S. A. et al. Phenotypes and genotypes in 51 individuals with SMC1A variants. Am. J. Med. Genet. 173A, 2108–2125 (2017)
4. Yuan, B. et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J. Clin. Invest. 125, 636–651 (2015)
5. Saunier, C. et al. Expanding the phenotype associated with NAA10-related N-terminal acetylation deficiency. Hum. Mutat. 37, 755–764 (2016)
6. Hennekam, R. C. What to call a syndrome. Am. J. Med. Genet. 143A, 1021–1024 (2007)
7. Santen, G. W. et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum. Mutat. 34, 1519–1528 (2013)
8. Fergelot, P. et al. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am. J. Med. Genet. 170A, 3069–3082 (2016)
9. Sousa, S. B. & Hennekam, R. C. Phenotype and genotype in Nicolaides-Baraitser syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 166, 302–314 (2014)
10. Bhuiyan, Z. A. et al. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J. Med. Genet. 43, 568–575 (2006). This paper is the first to combine detailed physical and behavioural characteristics with molecular findings in a series of CdLS individuals
11. Selicorni, A. et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin. Genet. 72, 98–108 (2007)
12. Cereda, A. et al. A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 172, 179–189 (2016)
13. Krantz, I. D. et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 36, 631–635 (2004)
14. Tonkin, E. T., Wang, T. J., Lisgo, S., Bamshad, M. J. & Strachan, T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36, 636–641 (2004). References 13 and 14 are the first to demonstrate that CdLS is a cohesinopathy
15. Musio, A. et al. X-Linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat. Genet. 38, 528–530 (2006)
16. Deardorff, M. A. et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am. J. Hum. Genet. 80, 485–494 (2007)
17. Deardorff, M. A. et al. RAD21 mutations cause a human cohesinopathy. Am. J. Hum. Genet. 90, 1014–1027 (2012)
18. Olley, G. et al. BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. Nat. Genet. 50, 329–332 (2018)
19. Michaelis, C., Ciosk, R. & Nasmyth, K. Cohesins: chromosomal proteins that prevent premature separation of sister chromatids. Cell 91, 35–45 (1997). This paper describes the first proteins that influence sister chromatid separation
20. Kagey, M. H. et al. Mediator and cohesin connect gene expression and chromatin architecture. Nature 467, 430–435 (2010)
21. Watrin, E., Kaiser, F. J. & Wendt, K. S. Gene regulation and chromatin organization: relevance of cohesin mutations to human disease. Curr. Opin. Genet. Dev. 37, 59–66 (2016)
22. Kamada, K. & Barillà, D. Combing chromosomal DNA mediated by the SMC complex: structure and mechanisms. Bioessays 40, 17000166 (2018)
23. Huisman, S. A., Redeker, E. J. W., Maas, S. M., Mannens, M. M. & Hennekam, R. C. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J. Med. Genet. 50, 339–344 (2013). This paper is the first to demonstrate that in a substantial proportion of individuals with CdLS, an NIPBL variant can be detected only in tissues other than blood
24. Ansari, M. et al. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J. Med. Genet. 51, 659–668 (2014)
25. Gillis, L. A. et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am. J. Hum. Genet. 75, 610–623 (2004)
26. Yan, J. et al. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am. J. Med. Genet. 140A, 1531–1541 (2006)
27. Ratajska, M. et al. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur. J. Med. Genet. 53, 378–382 (2010)
28. Russo, S. et al. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur. J. Hum. Genet. 20, 734–741 (2012)
29. Borck, G. et al. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum. Mutat. 28, 205–206 (2007)
30. Jansen, S. et al. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clin. Genet. 90, 413–419 (2016)
31. Symonds, J. D. et al. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases. Epilepsia 58, 565–575 (2017)
32. Carrel, L. & Willard, H. F. X-Inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434, 400–404 (2005)
33. Gil-Rodríguez, M. C. et al. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum. Mutat. 36, 454–462 (2015)
34. McKay, M. J. et al. Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse. Genomics 36, 305–315 (1996)
35. Boyle, M. I., Jespersgaard, C., Nazaryan, L., Bisgaard, A. M. & Tümer, Z. A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome — review of the literature. Clin. Genet. 91, 647–649 (2017)
36. Bonora, E. et al. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771–782 (2015)
37. Hnisz, D. et al. Super-enhancers in the control of cell identity and disease. Cell 155, 934–947 (2013)
38. Deardorff, M. A. et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489, 313–317 (2012)
39. Harakalova, M. et al. X-Exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J. Med. Genet. 49, 539–543 (2012)
40. Feng, L., Zhou, D., Zhang, Z., Liu, Y. & Yang, Y. Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. J. Hum. Genet. 59, 536–539 (2014)
41. Kaiser, F. J. et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum. Mol. Genet. 23, 2888–2900 (2014)
42. Parenti, I. et al. Expanding the clinical spectrum of the ‘HDAC8-phenotype’ — implications for molecular diagnostics, counseling and risk prediction. Clin. Genet. 89, 564–573 (2016)
43. Parenti, I. et al. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. Clin. Genet. 89, 74–81 (2016)
44. Woods, S. A. et al. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. Am. J. Med. Genet. 164A, 251–258 (2014)
45. Izumi, K. et al. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat. Genet. 47, 338–344 (2015)
46. Baquero-Montoya, C. et al. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. Eur. J. Med. Genet. 57, 503–509 (2014)
47. Weichert, J., Schröer, A., Beyer, D. A., Gillessen-Kaesbach, G. & Stefanova, I. Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. J. Matern. Fetal Neonatal Med. 24, 978–982 (2011)
48. Slavin, T. P. et al. Germline mosaicism in Cornelia de Lange syndrome. Am. J. Med. Genet. 158A, 1481–1485 (2012)
49. Jackson, L., Kline, A. D., Barr, M. A. & Koch, S. de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47, 940–946 (1993). This manuscript is the first summary of clinical data in a large series of individuals with CdLS in modern medical literature
50. Dempsey, M. A. et al. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat. Diagn. 34, 163–167 (2014)
51. Clark, D. M. et al. Prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 pregnancies. Am. J. Med. Genet. 158A, 1848–1856 (2012)
52. Stevic, M., Milojevic, I., Bokun, Z. & Simic, D. Unpredictable drug reaction in a child with Cornelia de Lange syndrome. Int. J. Clin. Pharm. 37, 1–3 (2015)
53. Moretto, A. et al. Sedation and general anesthesia for patients with Cornelia De Lange syndrome: a case series. Am. J. Med. Genet. C Semin. Med. Genet. 172, 222–228 (2016)
54. Kline, A. D., Barr, M. & Jackson, L. G. Growth manifestations in the Brachmann-de Lange syndrome. Am. J. Med. Genet. 47, 1042–1049 (1993)
55. Kousseff, B. G., Thomson-Meares, J., Newkirk, P. & Root, A. W. Physical growth in Brachmann-de Lange syndrome. Am. J. Med. Genet. 47, 1050–1052 (1993)
56. De Graaf, M. et al. Successful growth hormone therapy in Cornelia de Lange syndrome. J. Clin. Res. Pediatr. Endocrinol. 9, 366–370 (2017)
57. Romano, C. et al. European Society for Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for the evaluation and treatment of gastrointestinal and nutritional complications in children with neurological impairment. J. Pediatr. Gastroenterol. Nutr. 65, 242–264 (2017)
58. Toker, A. S., Ay, S., Yeler, H. & Sezgin, I. Dental findings in Cornelia de Lange syndrome. Yonsei Med. J. 50, 289–292 (2009)
59. Mariani, M. 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. 172, 206–213 (2016). This paper is the first to provide a detailed overview of physical and behavioural characteristics in adults with CdLS
60. Mouradian, W. E. The face of a child: children’s oral health and dental education. J. Dent. Educ. 65, 821–831 (2001)
61. Scarpelli, A. C. et al. Cornelia De Lange syndrome: a case report of a Brazilian boy. Cleft Palate Craniofac. J. 48, 490–493 (2011)
62. Jyonouchi, S., Orange, J., Sullivan, K. E., Krantz, I. & Deardorff, M. Immunologic features of Cornelia de Lange syndrome. Pediatrics 132, e484–e489 (2013)
63. Cavalleri, V. et al. Thrombocytopenia and Cornelia de Lange syndrome: still an enigma? Am. J. Med. Genet. 170A, 130–134 (2016)
64. Lambert, M. P. et al. The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. Am. J. Med. Genet. 155A, 33–37 (2011)
65. Collis, L., Moss, J., Jutley, J., Cornish, K. & Oliver, C. Facial expression of affect in children with Cornelia de Lange syndrome. J. Intellect. Disabil. Res. 52, 207–215 (2008)
66. Malviya, S., Voepel-Lewis, T., Burke, C., Merkel, S. & Tait, A. R. The revised FLACC observational pain tool: improved reliability and validity for pain assessment in children with cognitive impairment. Paediatr. Anaesth. 16, 258–265 (2006)
67. Beck, B. & Fenger, K. Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatr. Scand. 74, 765–769 (1985)
68. Feingold, M. & Lin, A. E. Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature. Am. J. Med. Genet. 47, 1064–1067 (1993)
69. Chodirker, B. N. & Chudley, A. E. Male-to-male transmission of mild Brachmann-de Lange syndrome. Am. J. Med. Genet. 52, 331–333 (1994)
70. McKenney, R. R., Elder, F. F., Garcia, J. & Northrup, H. Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. Am. J. Med. Genet. 66, 449–452 (1996)
71. Quint, E. H. Menstrual and reproductive issues in adolescents with physical and developmental disabilities. Obstetr. Gynecol. 124, 367–375 (2014)
72. American College of Obstetricians and Gynecologists. Menstrual manipulation for adolescents with physical and developmental disabilities. ACOG Committee Opinion 668, August 2016 (ACOG, 2016)
73. Schrier, S. A. et al. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am. J. Med. Genet. 155A, 3007–3024 (2011)
74. Oliver, C. et al. Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am. J. Med. Genet. 152A, 1127–1135 (2010)
75. McVary, K. T. BPH: epidemiology and comorbidities. Am. J. Manag. Care 12, S122–S128 (2006)
76. McVary, K. T. et al. Update on AUA guideline on the management of benign prostatic hyperplasia. J. Urol. 187, 358–359 (2012)
77. World Health Organization. WHO Guidelines for screening and treatment of precancerous lesions for cervical cancer prevention (WHO, 2013)
78. World Health Organization. WHO position paper on mammography screening (WHO, 2014)
79. Filippi, G. The de Lange syndrome. Report of 15 cases. Clin. Genet. 35, 343–363 (1989)
80. Wick, M. R., Simmons, P. S., Ludwig, J. & Kleinberg, F. Duodenal obstruction, annual pancreas, and horseshoe kidney in an infant with Cornelia de Lange syndrome. Minn. Med. 65, 539–541 (1982)
81. Mende, R. H., Drake, D. P., Olomi, R. M. & Hamel, B. C. J. Cornelia de Lange syndrome: a newborn with imperforate anus and a NIPBL mutation. Case Rep. Genet. 2012, 247683 (2012)
82. Cunniff, C. et al. Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am. J. Med. Genet. 47, 1018–1021 (1993)
83. Hosokawa, S. et al. Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. Congenit. Anom. (Kyoto) 50, 129–132 (2010)
84. Husain, K., Fitzgerald, P. & Lau, G. Cecal volvulus in the Cornelia de Lange syndrome. J. Pediatr. Surg. 29, 1245–1247 (1994)
85. Casaccia, G., Seymandi, P. L., Odone, M. G. & Catalano, O. A. Caecal volvulus in Cornelia de Lange syndrome: is its prevention possible? J. Paediatr. Child Health 45, 391–396 (2009)
86. Clermidi, P., Abadie, V., Campeotto, F. & Irtan, S. Sigmoid volvulus: an underestimated cause of intestinal obstruction in Cornelia de Lange syndrome. J. Pediatr. 167, 941–942 (2015)
87. Macchini, F. et al. Coeliac disease and Cornelia de Lange syndrome: lack of association. Acta Paediatr. 96, 1518–1520 (2007)
88. Bull, M. J., Fitzgerald, J. F., Heifetz, S. A. & Brei, T. J. Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome. Am. J. Med. Genet. 47, 1029–1034 (1993)
89. Sommer, A. Occurrence of the Sandifer complex in the Bachmann-de Lange syndrome. Am. J. Med. Genet. 47, 1026–1028 (1993)
90. Berney, T., Ireland, M. & Burn, J. Behavioral phenotype of Cornelia de Lange syndrome. Arch. Dis. Child. 81, 333–336 (1999)
91. Nizon, M. et al. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. Clin. Genet. 89, 584–589 (2016)
92. Luzzani, S., Macchini, F., Valade, A., Milani, D. & Selicorni, A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am. J. Med. Genet. 119A, 283–287 (2003)
93. Macchini, F. et al. Barrett’s esophagus and Cornelia de Lange syndrome. Acta Paediatr. 99, 1407–1410 (2010)
94. Duvall, G. A. & Walden, D. T. Adenocarcinoma of the esophagus complicating Cornelia de Lange syndrome. J. Clin. Gastroenterol. 22, 131–133 (1996)
95. Fitzgerald, R. C. et al. British Society of Gastroenterology guidelines on the diagnosis and management of Barrett’s oesophagus. Gut 63, 7–42 (2014)
96. Hassall, E. et al. Long-term maintenance treatment with omeprazole in children with healed erosive oesophagitis: a prospective study. Aliment. Pharmacol. Ther. 35, 368–379 (2012)
97. Wygnanski-Jaffe, T. et al. Ophthalmologic findings in the Cornelia de Lange syndrome. J. AAPOS 9, 407–415 (2005)
98. Nallasamy, S. et al. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch. Ophthalmol. 124, 552–557 (2006)
99. Avgitidou, G., Cursiefen, C. & Heindl, L. M. Ophthalmological manifestations of Cornelia de Lange syndrome: case report and review of the literature. Ophthalmologe 112, 455–458 (2015)
100. Tychsen, L., Faron, N. & Hoekel, J. Phakic intraocular collamer lens (visian ICL) implantation for correction of myopia in spectacle-aversive special needs children. Am. J. Ophthalmol. 175, 77–86 (2017)
101. Sataloff, R. T., Spiegel, J. R., Hawkshaw, M., Epstein, J. M. & Jackson, L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch. Otolaryngol. Head Neck Surg. 116, 1044–1046 (1990)
102. Sasaki, T., Kaga, K., Ohira, Y., Ogawa, Y. & Fukushima, Y. Temporal bone and brain stem histopathological findings in Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 36, 195–204 (1996)
103. Kim, J., Kim, E. Y., Lee, J. S., Lee, W. S. & Kim, H. N. Temporal bone CT findings in Cornelia de Lange syndrome. Am. J. Neuroradiol. 29, 569–573 (2008)
104. Marchisio, P. et al. Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome. Am. J. Med. Genet. 146A, 426–432 (2008)
105. Marchisio, P. et al. Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 78, 1045–1048 (2014)
106. Janek, K. C. et al. Improvement in hearing loss over time in Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 87, 203–207 (2016)
107. Hyman, P., Oliver, C. & Hall, S. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am. J. Ment. Retard. 107, 146–154 (2002)
108. Sakai, Y., Watanabe, T. & Kaga, K. Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 66, 63–69 (2002)
109. 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. 119, 235–252 (2014)
110. Hamilton, J., Clement, W. A. & Kubba, H. Otolaryngological presentations of Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 78, 1548–1550 (2014)
111. Pulec, J. L. & Saadat, D. Multichannel cochlear implantation in a child with Brachmann-De Lange syndrome. Otolaryngol. Head Neck Surg. 113, 641–643 (1995)
112. Brietzke, S. E. et al. Clinical consensus statement: pediatric chronic rhinosinusitis. Otolaryngol. Head Neck Surg. 151, 542–553 (2014)
113. Rosenfeld, R. M. et al. Clinical practice guidelines (update): adult sinusitis. Otolaryngol. Head Neck Surg. 152, S1–S39 (2015)
114. Ashahi, Y. et al. General anaesthesia with and without intubation for patients with Cornelia de Lange syndrome. South. Afr. J. Anaesth. Analg. 15, 32–34 (2009)
115. Mehta, D. et al. Characterization of limb differences in children with Cornelia de Lange Syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 172, 155–162 (2016)
116. Halal, F. & Preus, M. The hand profile on de Lange syndrome: diagnostic criteria. Am. J. Med. Genet. 3, 317–323 (1979)
117. Braddock, R. et al. Radiologic features in Brachmann-de Lange syndrome. Am. J. Med. Genet. 47, 106–1013 (1993)
118. Roposch, A. et al. Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients. J. Pediatr. Orthop. B 13, 118–122 (2004)
119. Barboni, C. et al. A new report of Cornelia de Lange syndrome associated with split hand and feet. Am. J. Med. Genet. 158A, 2953–2955 (2012)
120. Ruzbarsky, J. J., Scher, D. & Dodwell, E. Toe walking: causes, epidemiology, assessment and treatment. Curr. Opin. Pediatr. 28, 40–46 (2016)
121. Bettini, L. R. et al. Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients. Am. J. Med. Genet. 164A, 1520–1524 (2014)
122. Torres, M. D., Calvo, E., Fernandez Espla, F. & Gilsanz, F. Anesthetic management of an adult patient with Cornelia de Lange syndrome. Minerva Anesthesiol. 76, 229–231 (2010)
123. Pavlidis, E., Cantalupo, G., Bianchi, S., Piccolo, B. & Pisani, F. Epileptic features in Cornelia de Lange syndrome: case report and literature review. Brain Dev. 36, 837–843 (2014)
124. Verrotti, A. et al. Epilepsy in patients with Cornelia de Lange syndrome: a clinical series. Seizure 22, 356–359 (2013)
125. Nechay, A., Smulska, N. & Chepiga, L. Anoxic-epileptic seizures in Cornelia de Lange syndrome: case report of epileptic seizures induced by obstructive apnea. Eur. J. Paediatr. Neurol. 10, 142–144 (2006)
126. Fernandez, H. H., Friedman, J. H. & Famiglietti, E. V. Probable Cornelia de Lange syndrome with progressive Parkinsonism and dystonia. Mov. Disord. 15, 749–751 (2000)
127. Chen, Y. W., Hung, P. L., Wu, C. K. & Tseng, P. T. Severe complication of catatonia in a young patient with Hashimoto’s encephalopathy comorbid with Cornelia de Lange syndrome. Kaohsiung J. Med. Sci. 31, 60–61 (2015)
128. Van den Berg, D. L. C. et al. Nipbl interacts with Zfp609 and the integrator complex to regulate cortical neuron migration. Neuron 93, 348–361 (2017)
129. Whitehead, M. T., Nagaraj, U. D. & Pearl, P. L. Neuroimaging features of Cornelia de Lange syndrome. Pediatr. Radiol. 45, 1198–1205 (2015)
130. Vuilleumier, N. et al. Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathol. 104, 327–332 (2002)
131. Roshan Lal, T. R. et al. Cornelia de Lange syndrome: correlation of brain MRI findings with behavioral assessment. Am. J. Med. Genet. C Semin. Med. Genet. 172, 190–197 (2016)
132. Mutlu, M., Dilber, B. & Aslan, Y. Cornelia de Lange syndrome associated with thoracic meningocele. Clin. Dysmorphol. 19, 161–163 (2010)
133. Hall, S. S., Arron, K., Sloneem, J. & Oliver, C. Health and sleep problems in Cornelia de Lange Syndrome: a case control study. J. Intellect. Disabil. Res. 52, 458–468 (2008)
134. Stavinoha, R. C. et al. Characterization of sleep disturbance in Cornelia de Lange Syndrome. Int. J. Pediatr. Otorhinolaryngol. 75, 215–218 (2011)
135. Rajan, R. et al. Insomnia in Cornelia de Lange syndrome. Int. J. Pediatr. Otorhinolaryngol. 76, 972–975 (2012)
136. Zambrelli, E. et al. Sleep disorders in Cornelia de Lange syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 172, 214–221 (2016)
137. Wulffaert, J. et al. Simultaneous analysis of the behavioral phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. J. Intellect. Disabil. Res. 53, 604–619 (2009)
138. Ajmone, P. F. et al. Communication, cognitive development and behavior in children with Cornelia de Lange syndrome (CdLS): preliminary results. Am. J. Med. Genet. Neuropsychiatr. Genet. 165B, 223–229 (2014)
139. Reid, D., Moss, J., Nelson, L., Groves, L. & Oliver, C. Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age related performance. J. Neurodev. Dis. 9, 29 (2017)
140. Johnson, V. Executive function and decision making in Cornelia de Lange syndrome. PhD thesis, Univ. Birmingham (2015)
141. Joosten, A. V. & Bundy, A. C. Sensory processing and stereotypical and repetitive behaviour in children with autism and intellectual disability. Aust. Occup. Ther. J. 57, 366–372 (2010)
142. Baker, A. E. Z., Lane, A., Angley, M. T. & Young, R. L. The relationship between Sensory processing patterns and behavioral responsiveness in autistic disorder: a pilot study. J. Autism Dev. Disord. 38, 867–875 (2008)
143. Bogdashina, O. Sensory perceptual issues in autism and Asperger syndrome: different sensory experiences — different perceptual worlds 2nd edn, (Jessica Kingsley Publishers, London, 2016)
144. Mazurek, M. O. et al. Anxiety, sensory over-responsivity, and gastrointestinal problems in children with autism spectrum disorders. J. Abnorm. Child Psychol. 41, 165–176 (2013)
145. Mulder, P. A. et al. Development, behavior and autism in individuals with SMC1A variants. J. Child Psychol. Psychiatry (in the press)
146. Engel-Yeger, B., Hardal-Nasser, R. & Gal, E. Sensory processing dysfunctions as expressed among children with different severities of intellectual developmental disabilities. Res. Dev. Disabil. 32, 1770–1775 (2011)
147. Cascio, C. J., Lorenzi, J. & Baranek, G. T. Self-reported pleasantness ratings and examiner-coded defensiveness in response to touch in children with ASD: effects of stimulus material and bodily location. J. Autism Dev. Disord. 46, 1528–1537 (2016)
148. Moss, J., Fitzpatrick, D., Welham, A., Penhallow, J. & Oliver, C. Genotype-phenotype correlations in Cornelia de Lange syndrome: behavioral characteristics and changes with age. Am. J. Med. Genet. 173A, 1566–1574 (2017)
149. Nakanishi, M. et al. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am. J. Med. Genet. 158A, 1841–1847 (2002)
150. Moss, J. et al. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am. J. Ment. Retard. 113, 278–291 (2008)
151. Moss, 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. 118, 262–283 (2013)
152. Richards, C., Moss, J., O’Farrell, L., Kaur, G. & Oliver, C. Social anxiety in Cornelia de Lange syndrome. J. Autism Dev. Disord. 39, 1155–1162 (2009)
153. Crawford, H., Moss, J., McCleery, J. P., Anderson, G. M. & Oliver, C. Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. J. Neurodev. Dis. 7, 22 (2015)
154. Srivastava, S. et al. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am. J. Med. Genet. 164A, 1400–1410 (2014)
155. Cochran, L., Moss, J., Nelson, L. & Oliver, C. 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. 169, 188–197 (2015)
156. Huisman, S. A. et al. Self-injurious behavior. Neurosci. Biobehav. Rev. 84, 483–491 (2018). This paper provides an overview of self-injurious behaviour and stresses the differences between various syndromes, including CdLS
157. Berkson, G. & Tupa, M. Early development of stereotyped and self-injurious behaviors. J. Early Interv. 23, 1–19 (2000)
158. Oliver, C., Sloneem, J., Hall, S. & Arron, K. Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. J. Intellect. Disabil. Res. 53, 575–589 (2009)
159. Richards, C., Groves, L., Jones, C., Moss, J. & Oliver, C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry 2, 909–916 (2015)
160. McCracken, J. T. et al. Risperidone in children with autism and serious behavioral problems. N. Engl. J. Med. 347, 314–321 (2002)
161. Goldman, S. et al. Motor stereotypies in children with autism and other developmental disorders. Dev. Med. Child Neurol. 51, 30–38 (2008)
162. Moss, J., Oliver, C., Arron, K., Burbridge, C. & Berg, K. The prevalence and phenomenology of repetitive behavior in genetic syndromes. J. Autism Dev. Disord. 39, 572–588 (2009)
163. Leekam, S., Prior, M. R. & Uljarevic, M. Restricted and repetitive behaviors in autism spectrum disorders: a review of research in the last decade. Psych. Bull. 137, 562–593 (2011)
164. King, B. H. et al. Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch. Gen. Psychiatry 66, 583–590 (2009)
165. Grados, M. A., Alvi, M. H. & Srivastava, S. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr. Opin. Psychiatry 30, 92–96 (2017)
166. 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. 51, 671–681 (2007)
167. Moss, J. et al. A comparative study of sociability and selective mutism in autism spectrum disorder, Angelman, Cornelia de Lange, Fragile X and Rubinstein-Taybi syndromes. Am. J. Intellect. Dev. Disabil. 121, 465–486 (2016)
168. Crawford, H., Waite, J. & Oliver, C. Diverse profiles of anxiety related disorders in fragile X, Cornelia de Lange and Rubinstein-Taybi syndromes. Autism Dev. Disord. 47, 3728–3740 (2017)
169. Mulder, P. A. et al. Behaviour in Cornelia de Lange syndrome: a systematic review. Dev. Med. Child Neurol. 59, 361–366 (2017). This paper describes the specific characteristics of behaviour in individuals with CdLS
170. Sarimski, K. Analysis of intentional communication in severely handicapped children with Cornelia de Lange syndrome. J. Commun. Disord. 35, 483–500 (2002)
171. Hassiotis, A. et al. Randomized, single-blind, controlled trial of a specialist behavior therapy team for challenging behavior in adults with intellectual disabilities. Am. J. Psychiatry 166, 1278–1285 (2009)
172. Oliver, C., Berg, K., Moss, J., Arron, K. & Burbidge, C. Delineation of behavioural phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity. J. Autism Dev. Disord. 41, 1019–1032 (2011). This paper describes the specific characteristics of ASDs in syndromes, including CdLS
173. Moss, J., Magiati, I., Howlin, P. & Oliver, C. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. J. Child Psychol. Psychiatry 53, 883–891 (2012)
174. Sarimski, K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. J. Intellect. Disabil. Res. 41, 70–75 (1997)
175. 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. 55, 109–120 (2011)
176. Goodban, M. T. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange Syndrome. Am. J. Med. Genet. 47, 1059–1063 (1993)
177. Lorusso, M. L. et al. Indicators of theory of mind in narrative production: a comparison between individuals with genetic syndromes and typically developing children. Clin. Linguist. Phon. 21, 37–53 (2007)
178. Snell, M. E. et al. Twenty years of communication intervention research with individuals who have severe intellectual and developmental disabilities. Am. J. Intellect. Dev. Disabil. 115, 364–380 (2010)
179. Fraser, W. I. & Campbell, B. M. A study of six cases of De Lange Amsterdam dwarf syndrome with special attention to voice, speech, and language characteristics. Dev. Med. Child Neurol. 20, 189–198 (1978)
180. Verpoorten, R. A. W. Communicatie met verstandelijk gehandicapte autisten: een multi-dimensioneel communicatiemodel. Ned. T. Zorg Verstand. Gehand. 22, 106–120 (1996)
181. Romski, M. et al. Randomized comparison of augmented and nonaugmented language interventions for toddlers with developmental delays and their parents. J. Speech Lang. Hear. Res. 53, 350–364 (2010)
182. Wilkinson, K. M. & Hennig, S. The state of research and practice in augmentative and alternative communication for children with developmental/intellectual disabilities. Ment. Retard. Dev. Disabil. Res. Rev. 13, 58–69 (2007)
183. Porter, J., Ouvry, C., Morgan, M. & Downs, C. Interpreting the communication of people with profound and multiple learning difficulties. Br. J. Learn. Disabil. 29, 12–16 (2001)
184. Dobson, S., Upadhyaya, S. & Stanley, B. Using an interdisciplinary approach to training to develop the quality of communication with adults with profound learning disabilities by care staff. Int. J. Lang. Commun. Dis. 37, 41–57 (2002)
185. Wierzba, J., Mazurkiewicz-Bełdzińska, M., Bełdzińska-Brudło, J., Potaz˙, P. & Banach, P. Challenges of caring for a patient with a rare disease — as demonstrated by Cornelia de Lange Syndrome. Dev. Period Med. 19, 511–515 (2015)
186. January, K. et al. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. Am. J. Med. Genet. C Semin. Med. Genet. 172, 237–245 (2016)
187. Mikołajewska, E. Interdisciplinary therapy in Cornelia de Lange syndrome — review of the literature. Adv. Clin. Exp. Med. 22, 571–577 (2013)
188. Ailey, S. H., Brown, P. J. & Ridge, C. M. Improving hospital care of patients with intellectual and developmental disabilities. Disabil. Health J. 10, 169–172 (2017)
189. Fisher, K., Haagen, B. & Orkin, F. Acquiring medical services for individuals with mental retardation in community-based housing facilities. Appl. Nurs. Res. 18, 155–159 (2005)
190. Dubin, S. When the patient suffers: optimization of transitions between care facilities. Geriatr. Nurs. 28, 298–300 (2007)
191. Davies, H., Rennick, J. & Majnemer, A. Transition from pediatric to adult health care for young adults with neurological disorders: parental perspectives. Can. J. Neurosci. Nurs. 33, 32–39 (2011)
192. Bindels-de Heus, K. G., van Staa, A., van Vliet, I., Ewals, F. V. & Hilberink, S. R. Transferring young people with profound intellectual and multiple disabilities from pediatric to adult medical care: parents’ experiences and recommendations. Intellect. Dev. Disabil. 51, 176–189 (2013)
193. Stein, G. L. & Kerwin, J. Disability perspectives on health care planning and decision-making. J. Palliat. Med. 13, 1059–1064 (2010)
194. Baas, M. et al. Building treasures for rare disorders. Eur. J. Med. Genet. 58, 11–13 (2015)
195. Cacioppo, C. N., Conway, L. J., Mehta, D., Krantz, I. D. & Noon, S. E. Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 172, 229–236 (2016)