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Journal of Autism and Developmental Disorders

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09-08-2015 | Brief Report

Brief Report: Systematic Review of Rett Syndrome in Males

Auteurs: Brian Reichow, Annie George-Puskar, Tara Lutz, Isaac C. Smith, Fred R. Volkmar

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2015

Abstract

Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.

vorige artikel Brief Report: Generalization Weaknesses in Verbally Fluent Children and Adolescents with Autism Spectrum Disorder

volgende artikel Brief Report: The Impact of Changing from DSM-IV ‘Asperger’s’ to DSM-5 ‘Autistic Spectrum Disorder’ Diagnostic Labels on Stigma and Treatment Attitudes

American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: American Psychiatric Association.

American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Washington, DC: American Psychiatric Association.

American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC: American Psychiatric Association.

Amir, R. E., Van den Veyver, I. G., Wan, M., Tran, C. Q., Fancke, Y., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185–188.CrossRefPubMed

*Armstrong, J., Pineda, M., Aibar, E., Gean, E., & Monros, E. (2001). Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Annals of Neurology, 50(5), 692.CrossRefPubMed

*Budden, S. S., Dorsey, H. C., & Steiner, R. D. (2005). Clinical profile of a male with Rett syndrome. Brain and Development, 27(Suppl 1), S69–S71.CrossRefPubMed

*Christen, H. J., & Hanefeld, F. (1995). Male Rett variant. Neuropediatrics, 26(2), 81–82.CrossRefPubMed

*Clayton-Smith, J., Watson, P., Ramsden, S., & Black, G. C. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet, 356(9232), 830–832.CrossRefPubMed

*Coleman, M. (1990). Is classical Rett syndrome ever present in males? Brain and Development, 12(1), 31–32.CrossRefPubMed

*Condie, J., Goldstein, J., & Wainwright, M. S. (2010). Acquired microcephaly, regression of milestores, mitochondrial dysfunction, and episodic rigidity in a 46, XY male with de novo MECP2 gene mutation. Jrounal of Child Neurology, 25(5), 633–636.CrossRef

*Das, D. K., Raha, S., Sanghavi, D., Maitra, A., & Udani, V. (2013). Spectrum of MECP2 gene mutations in a cohort of Indian pateints with Rett syndrome: Report of two novel mutations. Gene, 515, 78–83.CrossRefPubMed

*Dayer, A. G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S. E., Haenggeli, C. A., & Morris, M. A. (2007). MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain and Development, 29(1), 47–50.CrossRefPubMed

*Eeg-Olofsson, O., Al-Zuhair, A. G. H., Teebi, A. S., Zaki, M., & Daoud, A. S. (1990). A boy with the Rett syndrome? Brain and Development, 12(5), 529–532.CrossRefPubMed

*Gillberg, C. (1989). The borderland of autism and Rett syndrome: Five case histories to highlight diagnostic difficulties. Journal of Autism and Developmental Disorders, 19(4), 545–559.CrossRefPubMed

Goutieres, F., & Aicardi, J. (1987). New experience with Rett syndrome in France: The problem of atypical cases. Brain and Development, 9(5), 502–505.CrossRefPubMed

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, 471–479.CrossRefPubMed

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(5), 293–297.CrossRefPubMed

Hagberg, B. A., & Skjeldal, O. H. (1994). Rett variants: A suggested model for inclusion criteria. Pediatric Neurology, 11(1), 5–11.CrossRefPubMed

*Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., & Naidu, S. (2001). MECP2 mutations in children with and without the phenotype of Rett syndrome. Neurology, 56, 1486–1495.CrossRefPubMed

*Jan, M. M. S., Dooley, J. M., & Gordon, K. E. (1999). Male Rett syndrome variant: Application of diagnostic criteria. Pediatric Neurology, 20(3), 238–240.CrossRefPubMed

*Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., & Kabra, M. (2011). A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: Implications for genetic counseling and prenatal diagnosis. Journal of Child Neurology, 26(2), 209–213.CrossRefPubMed

*Kumakura, A., Takahashi, S., Okajima, K., & Hata, D. (2013). A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome. Brain and Development, 36(8), 725–729.CrossRefPubMed

Laurvick, C. L., de Klerk, N., Bower, C., Chrisodoulou, J., Ravine, D., Ellaway, C., & Leonard, H. (2006). Rett syndrome in Australia: A review of the epidemiology. Journal of Pediatrics, 148(3), 347–352.CrossRefPubMed

*Le Guen, T., Bahi-Buisson, N., Nectoux, J., Boddaert, N., Fichou, Y., Diebold, B., & Bienvenu, T. (2011). A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics, 12(1), 1–8.CrossRefPubMed

*Leonard, H., Silberstein, J., Falk, R., Houwink-Manville, I., Ellaway, C., Raffaele, L. S., & Schanen, C. (2001). Occurrence of Rett syndrome in boys. Journal of Child Neurology, 16(5), 333–338.CrossRefPubMed

*Lundvall, M., Samuelsson, L., & Kyllerman, M. (2006). Male Rett phenotypes in T158M and R294X MECP2-mutations. Neuropediatrics, 37, 296–301.CrossRefPubMed

*Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., & Herkenrath, P. (2002). De novo MECP2 mutation in a 46, XX male patient with Rett syndrome. Neurogenetics, 4, 107–108.CrossRefPubMed

*Masuyama, T., Matsuo, M., Jing, J. J., Tabara, Y., Kitsuki, K., Yamagata, H., & Kondo, I. (2005). Classic Rett syndrome in a boy with R133C mutation of MECP2. Brain and Development, 27(6), 439–442.CrossRefPubMed

*Meins, M., Lehmann, J., Gerresheim, F., Herchenbach, J., Hagedorn, M., Hameister, K., & Epplen, J. T. (2005). Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. Journal of Medical Genetics, 42(2), e12.CrossRefPubMedPubMedCentral

*Mittal, K., Gupra, N., Kabra, M., Juyal, R., & Thelma, B. K. (2011). Distinct de novo deletions in a brother-sister pair with RTT: A case report. American Journal of Medical Genetics Part B, 156, 859–863.CrossRef

Moher, D., Liberati, A., Tetzlaff, J., Altman, D. G., & The PRISMA Group. (2009). Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement. PLoS Medicine, 6(7), e1000097.CrossRefPubMedPubMedCentral

*Monros, E., Armstrong, J., Aibar, E., Poo, P., Canos, I., & Pineda, M. (2001). Rett syndrome in Spain: Mutation analysis and clinical correlations. Brain and Development, 23, S251–S253.CrossRefPubMed

*Moog, U., Smeets, E. E. J., Van Roozendaal, K. E. P., Schoenmakers, S., Herbergs, J., Schoonbrood-Lenssen, A. M. J., & Schrander-Stumpel, C. T. R. M. (2003). Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP 2). European Journal of Paediatric Neurology, 7(1), 5–12.CrossRefPubMed

Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buison, N., & Percy, A. K. (2010). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944–950.CrossRefPubMedPubMedCentral

Neul, J. L., & Zoghbi, H. Y. (2004). Rett syndrome: A prototypical neurodevelopmental disorder. The Neuroscientist, 10(2), 118–128.CrossRefPubMed

*Philippart, M. (1990). The Rett syndrome in males. Brain and Development, 12(1), 33–36.CrossRefPubMed

*Philippart, M. (1993). Rett syndrome associated with tuberous sclerosis in a male and in a female: Evidence for arrested motor and mental development. American Journal of Medical Genetics, 48, 229–230.CrossRefPubMed

*Pieras, J. I., Munoz-Cabello, B., Borrego, S., Marcos, I., Sanchez, J., Madruga, M., & Antinolo, G. (2011). Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male. Brain and Development, 33(7), 608–611.CrossRefPubMed

Rett, A. (1966). Uber rein eigenartiges hirnatrophisches syndrom bei hyperammonamie im kindesalter [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wiener Medizinische Wochenschrift, 116, 723–738.PubMed

Rett, A. (1986). History of Rett syndrome. American Journal of Medical Genetics, 24, 21–25.CrossRef

Rett Syndrome Diagnostic Criteria Workgroup. (1988). Diagnostic criteria for Rett syndrome. Annals of Neurology, 23(4), 425–428.CrossRef

*Santos, M., Temudo, T., Kay, T., Carrilho, I., Medeira, A., Cabral, H., & Maciel, P. (2009). Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients. Journal of Child Neurology, 24(1), 49–55.CrossRefPubMed

*Sartori, S., Di Rosa, G., Polli, R., Bettella, E., Tricomi, G., Tortorella, G., & Murgia, A. (2009). A novel CDKL5 mutation in a 47, XXY boy with the early-onset seizure variant of Rett syndrome. American Journal of Medical Genetics. Part A, 149A(2), 232–236.CrossRefPubMed

Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., & Renieri, A. (2005). CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. Journal of Medical Genetics, 42, 103–107.CrossRefPubMedPubMedCentral

Schwartzman, J. S., Bernardino, A., Nishimura, A., Gomes, R. R., & Zatz, M. (2001). Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics, 32, 162–164.CrossRefPubMed

*Schwartzman, J. S., Zatz, M., Vasques, L. R., Gomes, R. R., Koiffmann, C. P., Fridman, C., & Otto, P. G. (1999). Rett syndrome in a boy with a 47, XXY karyotype. American Journal of Human Genetics, 64, 1781–1785.CrossRef

*Shimada, S., Okamoto, N., Hirasawa, K., Yoshii, K., Tani, Y., Sugawara, M., et al. (2013a). Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. American Jounral of Medical Genetics, 161A, 1779–1785.CrossRef

*Shimada, S., Okamoto, N., Ito, M., Arai, Y., Momosaki, K., Togawa, M., et al. (2013b). MECP2 duplication syndrome in both genders. Brain and Development, 35, 411–419.CrossRefPubMed

*Topcu, M., Akyerli, C., Sayi, A., Toruner, G. A., Kocoglu, S. R., Cimbis, M., & Ozcelik, T. (2002). Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. European Journal of Human Genetics, 10(1), 77–81.CrossRefPubMed

*Topcu, M., Topaloglu, H., Renda, Y., Berker, M., & Turanli, G. (1991). The Rett syndrome in males. Brain and Development, 13(1), 62.CrossRefPubMed

Trevathan, E. (1989). Rett Syndrome. Pediatrics, 83, 636–637.PubMed

Trevathan, E., & Moser, H. W. (1988). Diagnostic criteria working gruop: Diagnostic criteria for Rett syndrome. Annals of Neruology, 23, 425–428.CrossRef

*Van Der Aa, N., Van Den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., & Storm, K. (2010). Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Molecular Syndromology, 1(6), 290–293.CrossRef

*Vorsanova, S. G., Turov, Y. B., Ulas, V. Y., Demidova, I. A., Sharonin, V. O., Kolotii, A. D., & Soloviev, I. V. (2001). Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT) a retrospective analysis of a Russian cohort of RTT patients: The investigation of 57 girls and three boys. Brain and Development, 23, S196–S201.CrossRefPubMed

Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H., Amir, R. E., & Francke, U. (1999). Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. American Journal of Human Genetics, 65, 1520–1529.CrossRefPubMedPubMedCentral

World Health Organization. (1992). International statistical classification of diseases and related health problems, 10th revision (ICD-10). Geneva: WHO.

*Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., et al. (2014). Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics, 15, 24.PubMedPubMedCentral

Titel: Brief Report: Systematic Review of Rett Syndrome in Males
Auteurs: Brian Reichow
Annie George-Puskar
Tara Lutz
Isaac C. Smith
Fred R. Volkmar
Publicatiedatum: 09-08-2015
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 10/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-015-2519-1

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