Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 172, Issue 2, 2016, Pages 190-197

  Roshan Lal, Tamanna R ^a   Kliewer, Mark A ^a   Lopes, Thelma ^a   Rebsamen, Susan L ^a   O'Connor, Julia ^a   Grados, Marco A ^a   Kimball, Amy ^a   Clemens, Julia ^a   Kline, Antonie D ^a  

^a NONE

Author keywords

Aberrant Behavior Checklist; behavior; brain; Cornelia de Lange syndrome; MRI

Indexed keywords

ABERRANT BEHAVIOR CHECKLIST; ADULT; ARNOLD CHIARI MALFORMATION; ARTICLE; BEHAVIOR ASSESSMENT; BRAIN ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CORRELATIONAL STUDY; DE LANGE SYNDROME; FEMALE; GLIOSIS; HUMAN; HYPOPHYSIS TUMOR; MALE; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; WHITE MATTER; YOUNG ADULT; ADOLESCENT; BEHAVIOR MODIFICATION; BRAIN; COMPLICATION; MENTAL DISORDERS; PATHOLOGY;

ADOLESCENT; ADULT; APPLIED BEHAVIOR ANALYSIS; BRAIN; CHILD; CHILD, PRESCHOOL; DE LANGE SYNDROME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL DISORDERS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84966691980     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31503     Document Type: Article

References (36)

1. Aman MG, Singh NN, Stewart AW, Field CJ. 1985. Psychometric characteristic of the aberrant behavior checklist. Am J Ment Defic 89:492–502.
2. Aman M, Singh N, Stewart A, Field C. 1986. The aberrant behavior checklist: Manual. East Aurora, NY: Slosson Educational Publications.
3. Aman MG, Singh NN, Turbott SH. 1987. Reliability of the Aberrant Behavior Checklist and the effect of variations in instructions. Am J Ment Defic 92:237–240.
4. Basile E, Villa L, Selicorni A, Molteni M. 2007. The behavioral phenotype of Cornelia de Lange syndrome: A study of 56 individuals. J Intellect Disabil Res 51:671–681.
5. Basson MA, Wingate RJ. 2013. Congenital hypoplasia of the cerebellum: Developmental causes and behavioral consequences. Front Neuroanat 7:29.
6. Cerliani L, Mennes M, Thomas RM, Di Martina A, Thioux M, Keysers C. 2015. Increased functional connectivity between subcortical and cortical resting-state networks in autism spectrum disorder. JAMA Psychiatry 72:767–777.
7. Cuadrado A, Remeseiro S, Grana O, Pisano DG, Losada A. 2015. The contribution of cohesin-SA1 to gene expression and chromatin architecture in two murine tissues. Nucleic Acids Res 43:3056–3067.
8. Deardorff M, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Roriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos R, Musio A, Jackson LG, Dorsett D, Krantz ID. 2007. 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.
9. Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez Mc, Clark D, Hakonarson H. 2012a. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 90:1014–1027.
10. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E. 2012b. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489:313–317.
11. Gothelf D, Furfaro JA, Hoeft F, Eckert MA, Hall SS, O'Hara R, Erba HW, Ringel J, Hayashi KM, Patnaik S, Golianu B, Kraemer HC, Thompson PM, Piven J, Reiss AL. 2008. Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Ann Neurol 63:40–51.
12. Hampson DR, Blatt GJ. 2015. Autism spectrum disorders and neuropathology of the cerebellum. Front Neurosci 9:420.
13. Hayashi M, Sakamoto K, Kurata K, Nagata J, Satoh J, Morimatsu Y. 1996. Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. Acta Neuropathol 92:625–630.
14. Jackson L, Kline AD, Barr MA, Koch S. 1993. De Lange syndrome. A clinical review of 310 individuals. Am J Med Genet 47:940–946.
15. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz ID, Kimball A, Pichard C, Tuchman D. 2007a. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet 145C:248–260.
16. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007b. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet 143A:1287–1296.
17. Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland E. 2015. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium. Am J Med Genet 167:1179–1192.
18. Knaus TA, Tager-Flusberg H, Foundas AL. 2012. Sylvian fissure and parietal anatomy in children with autism spectrum disorder. Behav Neurol 25:327–339.
19. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631–635.
20. Mahmood A, Bibat G, Zhan AL, Izbudak I, Farage L, Horska A, Mori S, Naidu S. 2010. White matter impairment in Rett syndrome: Diffusion tensor imaging study with clinical correlations. AJNR Am J Neuroradiol 31:295–299.
21. Mannini L, Cucco F, Quarantotti V, Krantz I, Musio A. 2013. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 34:1589–1596.
22. Moss J, Howlin P, Magiati I, Oliver C. 2012. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. J Child Psychol Psychiatry 53:883–891.
23. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature Genet 38:528–530.
24. Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. 2012. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange Syndrome. Am J Med Genet 158:1841–1847.
25. Oliver C, Arron K, Sloneem J, Hall S. 2008. Behavioral phenotype of Cornelia de Lange syndrome: A case-control study. Br J Psychiatry 193:466–470.
26. Ozkinay F, Cogulu O, Gunduz C, Levent E, Ozkinay C. 1998. A case of Brachman de Lange syndrome with cerebellar vermis hypoplasia. Clin Dysmorphol 7:303–305.
27. Pinter JD, Eliez S, Schmitt JE, Capone GT, Reiss AL. 2001. Neuroanatomy of Down's syndrome: A high-resolution MRI study. Am J Psychiatry 158:1659–1665.
28. Pujol J, del Hoyo L, Blanco-Hinojo L, de Sola S, Macia D, Martinez-Vilavella G, Amor M, Deus J, Rodriguez J, Farre M, Dierssen M, de la Torre R. 2015. Anomalous brain functional connectivity contributing to poor adaptive behavior in Down syndrome. Cortex 64:148–156.
29. Siegel M, Milligan B, Stein H, Teer O, Smith KA. 2013. Telephone administration of the aberrant behavior checklist: A pilot study of feasibility in children with intellectual disability and autism. J Intellect Disabil 17:265–271.
30. Srivastava S, Landy-Schmitt C, Clark B, Kline AD, Specht M, Grados MA. 2014. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am J Med Genet A 164A:1400–1410.
31. Stavinoha RC, Kline AD, Levy HP, Kimball A, Mettel TL, Ishman SL. 2011. Characterization of sleep disturbance in Cornelia de Lange syndrome. Internat J Ped Otorhinolaryngol 75:215–218.
32. Tonkin ET, Wang T-J, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genet 36:636–641.
33. Vuilleumier N, Kovari E, Nichon A, Hof PR, Mentenopoulos G, Giannakopoulos P, Bouras C. 2002. Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathol 104:327–332.
34. Whitehead MT, Nagaraj UD, Pearl PL. 2015. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiology 45:1198–1205.
35. Wu Y, Gause M, Xu D, Misulovin Z, Schaaf CA, Mosarla RC, Mannino E, Shannon M, Jones E, Shi M, Chen WF, Katz OL, Sehgal A, Jongens TA, Krantz ID, Dorsett D. 2015. Drosophila Nipped-B mutants model Cornelia de Lange syndrome in growth and behavior. PLoS Genet 11:e1005655.
36. Yamaguchi K, Ishitobi F. 1999. Brain dysgenesis in Cornelia de Lange syndrome. Clin Neuropathol 18:99–105.