Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2560-2565

  Fairchild, Helen R ^a   Fairchild, Graeme ^b   Tierney, Kevin M ^a   Mccartney, Deborah L ^c,d   Cross, Justin J ^e   De Vries, Petrus J ^a,c  

^a CAMBRIDGESHIRE AND PETERBOROUGH NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Agenesis of the corpus callosum; Emotional processing; Neurodevelopment; Neuropsychological profile; Roifman syndrome; X linked mental retardation

Indexed keywords

ADOLESCENT; AMYGDALOID NUCLEUS; ARTICLE; CASE REPORT; CHILD; COGNITION; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; FACIAL EXPRESSION; HIPPOCAMPUS; HUMAN; INTELLECTUAL IMPAIRMENT; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; ROIFMAN SYNDROME; SCHOOL CHILD; SKILL; SOCIAL BEHAVIOR; VERBAL MEMORY;

ADOLESCENT; BRAIN; CARDIOMYOPATHIES; CHILD; EMOTIONS; FACIAL EXPRESSION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION, X-LINKED; NEUROPSYCHOLOGICAL TESTS; OSTEOCHONDRODYSPLASIAS; RETINAL DISEASES;

EID: 80053121338     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34215     Document Type: Article

References (28)

1. Bechara A, Tranel D, Damasio H, Adolphs R, Rockland C, Damasio AR. 1995. Double dissociation of conditioning and declarative knowledge relative to the amygdala and hippocampus in humans. Science 269: 1115-1118.
2. Benton AL, Sivan AB, Hamsher KdeS, Varney NR, Spreen O. 1983. Contributions to neuropsychological assessment: A clinical manual. New York: Oxford University Press.
3. Calder AJ, Young AW, Perrett DI, Etcoff NL, Rowland D. 1996. Categorical perception of morphed facial expressions. Vis Cogn 3: 81-117.
4. Cohen MJ. 1997. Children's Memory Scale (CMS). San Antonio TX: The Psychological Corporation.
5. de Vries PJ, McCartney DL, McCartney E, Woolf D, Wozencroft D. 2006. The cognitive and behavioural phenotype of Roifman syndrome. J Intellect Disabil Res 50: 690-696.
6. Dykens EM, Hodapp RM, Ort S, Finucane B, Shapiro L, Leckman JF. 1989. The trajectory of cognitive development in males with fragile X syndrome. J Am Acad Child Adolesc Psych 28: 422-428.
7. Dykens EM, Hodapp RM, Walsh K, Nash LJ. 1992. Adaptive and maladaptive behaviour in Prader-Willi syndrome. J Am Acad Child Adol Psych 31: 1131-1136.
8. Dykens EM, Hodapp RM, Evans DW. 2006. Profiles and development of adaptive behavior in children with Down syndrome. Down Syndrome Res Pract 9: 45-50.
9. Fairchild G, Van Goozen SH, Stollery SJ, Goodyer IM. 2008. Fear conditioning and affective modulation of the startle reflex in male adolescents with early-onset or adolescence-onset conduct disorder and healthy control subjects. Biol Psychiatry 63: 279-285.
10. Fairchild G, Van Goozen SH, Calder AJ, Stollery SJ, Goodyer IM. 2009. Deficits in facial expression recognition in male adolescents with early-onset or adolescence-onset conduct disorder. J Child Psychol Psychiatry 50: 627-636.
11. Fisch GS, Simensen R, Tarleton J, Chalifoux M, Holden JJA, Carpenter N, Howard-Peebles PN, Maddalena A. 1996. Longitudinal study of cognitive abilities and adaptive behaviour levels in fragile X males: A prospective multicenter analysis. Am J Med Genet 64: 356-361.
12. Fisch GS, Davis R, Youngblom J, Gregg J. 2011. Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome. Behav Genet 41: 373-380. DOI: 10.1007/s10519-011-9447-4
13. Fray P, Robins TW, Sahakian BJ. 1996. Neuropsychiatric applications of CANTAB. Int J Geriatr Psychiatry 11: 329-336.
14. Hagerman RJ, Hagerman PJ. 2002. Fragile X syndrome. In: Howlin P, Udwin O, eds. Outcomes in neurodevelopmental and genetic disorders. Cambridge UK: Cambridge University Press. pp 198-219.
15. Kolb B, Whishaw I. 1985. Fundamentals of human neuropsychology (2nd Ed). New York: WH Freeman.
16. Kuchukhidze G, Koppelstaetter F, Unterberger I, Dobesberger J, Walser G, Zamarian L, Haberlandt E, Maier H, Ortler M, Gotwald T, Gelpi E, Czech T, Feucht M, Bauer G, Delazer M, Felber S, Trinka E. 2010. Hippocampal abnormalities in malformations of cortical development: MRI study. Neurology 74: 1575-1582.
17. Mandel K, Grunebaum E, Benson L. 2001. Noncompaction of the myocardium associated with Roifman syndrome. Cardiol Young 11: 240-243.
18. Manly T, Robertson IH, Anderson V, Nimmo-Smith I. 1999. The test of everyday attention for children (TEA-Ch). Bury St Edmunds: Thames Valley Test Company.
19. Manly T, Anderson V, Nimmo-Smith I. 2001. The differential assessment of children's attention: The Test of Everyday attention for Children (TEA-Ch), normative sample and ADHD performance. J Child Psychol Psychiatry 42: 1065-1081.
20. Osterrieth PA. 1944. Le test de copie d'une figure complexe. Arch Psychol (Geneve) 30: 206-356. Translated by Corwyn J, Bylsma FW. Clin Psychologist 1993 (7): 9-15.
21. Paul L, Brown W, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH. 2007. Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 8: 287-299.
22. Phelps E. 2006. Emotion and cognition: Insights from studies of the human amygdala. Ann Rev Psychol 57: 27-53.
23. Robertson SP, Rodda C, Bankier A. 2001. Hypogonadotrophic hypogonadism in Roifman syndrome. Clin Genet 57: 435-438.
24. Roifman CM. 1999. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: A novel syndrome. Clin Genet 55: 103-109.
25. Taylor EM. 1959. Psychological appraisals of children with cerebral defects. Cambridge, MA: Harvard University Press.
26. Wechsler D. 1996. Wechsler Abbreviated Scale of Intelligence (WASI). San Antonio, TX: Harcourt Assessment.
27. UK). London: The Psychological Corporation.
28. World Health Organisation. 1992. The ICD-10 Classification of Mental and Behavioural Disorders. Geneva: WHO.