Social impairments in Rett syndrome: Characteristics and relationship with clinical severity

Journal of Intellectual Disability Research

Volumn 56, Issue 3, 2012, Pages 233-247

  Kaufmann, W E ^a   Tierney, E ^a   Rohde, C A ^b   Suarez Pedraza, M C ^a   Clarke, M A ^a   Salorio, C F ^a   Bibat, G ^a   Bukelis, I ^a   Naram, D ^a   Lanham, D C ^a   Naidu, S ^a  

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

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Anxiety; Autism; Behavioural questionnaire; Clinical severity; Mutation; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADAPTIVE BEHAVIOR; ADOLESCENT; ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; HAND FUNCTION; HUMAN; INTERPERSONAL COMMUNICATION; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; PHENOTYPE; QUESTIONNAIRE; RETT SYNDROME; SOCIAL ADAPTATION; SOCIAL BEHAVIOR; SOCIAL INTERACTION; SOCIALIZATION;

ADOLESCENT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INFANT; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; PSYCHIATRIC STATUS RATING SCALES; QUESTIONNAIRES; REGRESSION (PSYCHOLOGY); RETT SYNDROME; SEVERITY OF ILLNESS INDEX; SOCIAL BEHAVIOR;

EID: 84856885146     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2011.01404.x     Document Type: Article

References (50)

1. Abrahams B. S. & Geschwind D. H. (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews. Genetics 9, 341-55.
2. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders, 4th edn. American Psychiatric Association, Washington, D.C.
3. Amir R. E. & Zoghbi H. Y. (2000) Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. American Journal of Medical Genetics 97, 147-52.
4. Bebbington A., Anderson A., Ravine D., Fyfe S., Pineda M., de Klerk N. etal. (2008) Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 70, 868-75.
5. Berry-Kravis E. M., Hessl D., Coffey S., Hervey C., Schneider A., Yuhas J. etal. (2009) A pilot open-label single-dose trial of fenobam in adults with fragile X syndrome. Journal of Medical Genetics 46, 266-71.
6. Budimirovic D. B., Bukelis I., Cox C., Gray R. M., Tierney E. & Kaufmann W. E. (2006) Autism spectrum disorder in fragile X syndrome: differential contribution of adaptive socialization and social withdrawal. American Journal of Medical Genetics 140, 1814-26.
7. Carter J. C., Capone G. T., Gray R. M., Cox C. S. & Kaufmann W. E. (2007) Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. American Journal of Medical Genetics 144, 87-94.
8. Carter J. C., Lanham D. C., Pham D., Bibat G., Naidu S. & Kaufmann W. E. (2008) Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. American Journal of Neuroradiology 29, 436-41.
9. Carter P., Downs J., Bebbington A., Williams S., Jacoby P., Kaufmann W. E. etal. (2010) Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Movement Disorders 25, 282-8.
10. Cohen J. (1988) Statistical Power Analysis for the Behavioral Sciences, 2nd edn. Lawrence Erlbaum Associates, Mahwah, NJ.
11. Downs J. A., Bebbington A., Jacoby P., Msall M. E., Mcllroy O., Fyfe S. etal. (2008) Gross motor profile in Rett syndrome as determined by video analysis. Neuropediatrics 39, 205-10.
12. Field A. (2009) Discovering Statistics Using SPSS: Introducing Statistical Methods Series, 3rd edn. SAGE Publications, London.
13. Ghuman J. K., Freund L., Reiss A., Serwint J. & Folstein S. (1998) Early detection of social interaction problems: development of a social interaction instrument in young children. Journal of Developmental and Behavioral Pediatrics 19, 411-19.
14. Gillberg C. (1986) Autism and Rett syndrome: some notes on differential diagnosis. American Journal of Medical Genetics 1, 127-31.
15. Hagberg B. (2002) Clinical manifestations and stages of Rett syndrome. Mental Retardation and Developmental Disabilities Research Reviews 8, 61-5.
16. Hagberg B., Aicardi J., Dias K. & Ramos O. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Annals of Neurology 14, 471-9.
17. Hagberg B., Hanefeld F., Percy A. & Skjeldal O. (2002) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. European Journal of Paediatric Neurology 6, 293-7.
18. Hagberg B. A. & Skjeldal O. H. (1994) Rett variants: a suggested model for inclusion criteria. Pediatric Neurology 11, 5-11.
19. Hernandez R. N., Feinberg R. L., Vaurio R., Passanante N. M., Thompson R. E. & Kaufmann W. E. (2009) Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. American Journal of Medical Genetics 149, 1125-37.
20. Hoffbuhr K., Devaney J. M., LaFleur B., Sirianni N., Scacheri C., Giron J. etal. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56, 1486-95.
21. Horska A., Farage L., Bibat G., Nagae L. M., Kaufmann W. E., Barker P. B. etal. (2009) Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. Annals of Neurology 65, 90-7.
22. Kaufmann W. E., Cortell R., Kau A. S., Bukelis I., Tierney E., Gray R. M. etal. (2004) Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. American Journal of Medical Genetics 129, 225-34.
23. Kaufmann W. E., Johnston M. V. & Blue M. E. (2005) MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. Brain & Development 27, 77-87.
24. Le Bel R. M., Pineda J. A. & Sharma A. (2009) Motor-auditory-visual integration: the role of the human mirror neuron system in communication and communication disorders. Journal of Communication Disorders 42, 299-304.
25. Lord C., Rutter M. & Le Couteur A. (1994) Autism Diagnostic Interview - Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders 24, 659-85.
26. Mahmood A., Bibat G., Zhan A.-L., Izbudak I., Farage L., Horska A. etal. (2010) White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. American Journal of Neuroradiology 31, 295-9.
27. Matson J. L., Dempsey T. & Wilkins J. (2008) Rett syndrome in adults with severe intellectual disability: exploration of behavioral characteristics. European Psychiatry 23, 460-5.
28. Mount R. H., Charman T., Hastings R. P., Reilly S. & Cass H. (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry 43, 1099-110.
29. Mount R. H., Charman T., Hastings R. P., Reilly S. & Cass H. (2003a) Features of autism in Rett syndrome and severe mental retardation. Journal of Autism and Developmental Disorders 33, 435-42.
30. Mount R. H., Hastings R. P., Reilly S., Cass H. & Charman T. (2003b) Towards a behavioral phenotype for Rett syndrome. American Journal of Mental Retardation 108, 1-12.
31. Naidu S., Murphy M., Moser H. W. & Rett A. (1986) Rett syndrome - natural history in 70 cases. American Journal of Medical Genetics 1, 61-72.
32. Naidu S., Bibat G., Kratz L., Kelley R. I., Pevsner J., Hoffman E. etal. (2003) Clinical variability in Rett syndrome. Journal of Child Neurology 18, 662-8.
33. Neul J. L., Fang P., Barrish J., Lane J., Caeg E. B., Smith E. O. etal. (2008) Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 70, 1313-21.
34. Neul J. L., Kaufmann W. E., Glaze D. G., Christodoulou J., Clarke A. J., Bahi-Buisson N. etal. (2010) Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology 68, 944-50.
35. Percy A. K., Zoghbi H. Y., Lewis K. R. & Jankovic J. (1988) Rett syndrome: qualitative and quantitative differentiation from autism. Journal of Child Neurology 3, 65-7.
36. Percy A., Gillberg C., Hagberg B. & Witt-Engerström I. (1990) Rett Syndrome and the autistic disorders. Neurologic Clinics 8, 659-76.
37. Robertson L., Hall S. E., Jacoby P., Ellaway C., de Klerk N. & Leonard H. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. American Journal of Medical Genetics 141, 177-83.
38. Sansom D., Krishnan V. H., Corbett J. & Kerr A. (1993) Emotional and behavioural aspects of Rett syndrome. Developmental Medicine and Child Neurology 35, 340-5.
39. Simonoff E., Pickles A., Charman T., Chandler S., Loucas T. & Baird G. (2008) Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. Journal of the American Academy of Child and Adolescent Psychiatry 47, 921-9.
40. Singer H. S. (2009) Motor stereotypies. Seminars in Pediatric Neurology 16, 77-81.
41. Sirianni N., Naidu S., Pereira J., Pillotto R. F. & Hoffman E. P. (1998) Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. American Journal of Human Genetics 63, 1552-8.
42. Sparrow S. S., Balla D. A. & Cicchetti D. V. (1984) Vineland Adaptive Behavior Scales. American Guidance Service, Circle Pines, MN.
43. Tierney E., Nwokoro N. A., Porter F. D., Freund L. S., Ghuman J. K. & Kelley R. I. (2001) Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics 98, 191-200.
44. Tsai L. Y. (1992) Is Rett syndrome a subtype of pervasive developmental disorders? Journal of Autism and Developmental Disorders 22, 551-61.
45. Witt-Engerström I. & Gillberg C. (1987) Rett syndrome in Sweden. Journal of Autism and Developmental Disorders 17, 149-50.
46. Wulffaert J., Van Berckelaer-Onnes I. A. & Scholte E. M. (2009) Autistic disorder symptoms in Rett syndrome. Autism 13, 567-81.
47. Young D. J., Bebbington A., Anderson A., Ravine D., Ellaway C., Kulkarni A. etal. (2008) The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics 167, 661-9.
48. Zappella M., Gillberg C. & Ehlers S. (1998) The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases. Journal of Autism and Developmental Disorders 28, 519-26.
49. Zappella M., Meloni I., Longo I., Hayek G. & Renieri A. (2001) Preserved speech variants of the Rett syndrome: molecular and clinical analysis. American Journal of Medical Genetics 104, 14-22.
50. Zappella M., Meloni I., Longo I., Canitano R., Hayek G., Rosaia L. etal. (2003) Study of MECP2 gene in Rett syndrome variants and autistic girls. American Journal of Medical Genetics 119, 102-7.