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Rett syndrome in adults with severe intellectual disability: Exploration of behavioral characteristics

Published online by Cambridge University Press:  16 April 2020

Johnny L. Matson ,
Timothy Dempsey  and
Jonathan Wilkins
Johnny L. Matson*
Affiliation:
Department of Psychology, Louisiana State University, 324 Audubon Hall, Baton Rouge, LA70803, USA
Timothy Dempsey
Affiliation:
Department of Psychology, Louisiana State University, 324 Audubon Hall, Baton Rouge, LA70803, USA
Jonathan Wilkins
Affiliation:
Department of Psychology, Louisiana State University, 324 Audubon Hall, Baton Rouge, LA70803, USA
*
*Corresponding author. Tel.: +1 225 578 4104. E-mail address: [email protected] (J.L. Matson).
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Abstract

Rett syndrome is a genetically linked form of autism spectrum disorder (ASD) accompanied by intellectual disability (ID). The disorder is also characterized by cardiorespiratory dysregulation, disturbance in muscle tone, reduced brain growth and scoliosis. Over 300 studies have been published on the disorder, most of which has focused on identification of causative factors, which appears to be the result of mutations of gene MECP2. Rarely have adults with Rett syndrome been studied, and behavioral characteristics in these individuals are largely unknown. The present study aimed to extend what little is known about behavioral characteristics of Rett syndrome in adults, with particular emphasis on social, communicative, and adaptive behavior. Rett syndrome adults with severe ID were matched to autistic adults with ID and ID only controls. The implications of these data for more fully describing and diagnosing the condition in adults are discussed.

Keywords

Rett syndromeAdultsBehavioral characteristics
Type
Original article
Information
European Psychiatry , Volume 23 , Issue 6 , September 2008 , pp. 460 - 465
Copyright
Copyright © Elsevier Masson SAS 2008

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References

American Psychiatric Association, Diagnostic and statistical manual of mental disorders (DSM-IV)4th ed. 1994 APA Washington, DCGoogle Scholar
Armstrong, J.Pineda, M.Aibar, E.Gean, E.Monros, E.Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation Annals of Neurology. 50 2001 692CrossRefGoogle Scholar
de Bildt, A.Sytema, S.Kraijer, D.Sparrow, S.Minderaa, R.Adaptive functioning and behaviour problems in relation to level of education in children and adolescents with intellectual disability Journal of Intellectual Disability Research. 49 2005 672–681CrossRefGoogle ScholarPubMed
Bourdon, V.Philippe, C.Labrune, O.Amsallem, D.Arnould, C.Jonveaux, P.A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangement in Rett syndrome patients Human Genetics. 108 2001 43–50CrossRefGoogle ScholarPubMed
Braunschweig, D.Simcox, T.Savaaco, R.C.LaSalle, J.M.X-chromosome inactivation ratios affect wild-type MECP2 expression within mosaic Rett syndrome and MECP2−/+ mouse brain Human Molecular Genetics. 13 2004 1275–1286CrossRefGoogle ScholarPubMed
Caballero, I.M.Hendrich, B.MECP2 in neurons: closing in on the causes of Rett syndrome Human Molecular Genetics. 14 2005 R19–R26CrossRefGoogle ScholarPubMed
Charman, T.Taylor, E.Drew, A.Cockerill, H.Brown, J.A.Baird, G.Outcome at 7 years of children diagnosed with autism at age 2: predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time Journal of Child Psychology and Psychiatry. 46 2005 500–513CrossRefGoogle ScholarPubMed
Folstein, S.E.Rosen-Sheidley, B.Genetics of autism: complex aetiology for a heterogeneous disorder Nature Reviews: Genetics. 2 2001 943–955CrossRefGoogle ScholarPubMed
Fombonne, E.Chakrbarti, S.No evidence for a new variant of MMR-induced autism Pediatrics. 108 2001 E58CrossRefGoogle ScholarPubMed
Freeman, B.J.Ritvo, E.R.Schroth, P.C.Behavior assessment of the syndrome of autism: behavior observation system Journal of the American Academy of Child Psychiatry. 23 1984 588–594CrossRefGoogle ScholarPubMed
Glaze, D.G.Rett syndrome: of girls and mice–lessons for regression in autism Mental Retardation and Developmental Disabilities Research Reviews. 10 2004 154–158CrossRefGoogle ScholarPubMed
Green, V.A.Pituch, K.A.Itchon, J.Choi, A.O'Reilly, M.Sigafoos, J.Internet survey of treatments used by parents of children with autism Research in Developmental Disabilities. 27 2006 70–84CrossRefGoogle ScholarPubMed
Hill, J.Furniss, F.Patterns of emotional and behavioural disturbance associated with autistic traits in young people with severe intellectual disabilities and challenging behaviours Research in Developmental Disabilities. 27 2006 517–528CrossRefGoogle ScholarPubMed
Holden, B.Gitlesen, J.P.A total population study of challenging behaviour in the county of Hedmark, Norway: prevalence, and risk markers Research in Developmental Disabilities. 27 2006 456–465CrossRefGoogle ScholarPubMed
Huppke, P.Maier, E.M.Warnke, A.Brendel, C.Lacone, F.Gartner, J.Very mild cases of Rett syndrome with skewed × inactivation Journal of Medical Genetics. 13 2006 1275–1286Google Scholar
Kerr, A.M.Armstrong, D.D.Prescott, R.J.Doyle, D.Kearney, D.L.Analysis of deaths in the British Rett survey European Child and Adolescent Psychiatry. 6 1997 71–74Google ScholarPubMed
Kerr, A.M.Ravine, D.Review article: breaking new ground with Rett syndrome European Journal of Mental Disability. 3 2003 19–28Google Scholar
Kriaucionis, S.Paterson, A.Curtic, J.Guy, J.MacLeod, W.Bird, A.Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome Molecular and Cellular Biology. 26 2006 5033–5042CrossRefGoogle Scholar
Lord, C.Risi, S.Lambrecht, L.Cook, E.H. Jr.Leventhal, B.L.DiLavore, P.C.et al.The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism Journal of Autism and Developmental Disorders. 30 2000 205–223CrossRefGoogle ScholarPubMed
Lotan, M.Isakov, E.Merrick, J.Improving functional skills and physical fitness in children with Rett syndrome Journal of Intellectual Disability Research. 48 2004 730–735CrossRefGoogle ScholarPubMed
Matson, J.L.Boisjoli, J.A.Gonzalez, M.L.Smith, K.R.Wilkings, J.Norms and cut-off scores for the autism spectrum disorders diagnosis for adults with intellectual disability Research in Autism Spectrum Disorders. 1 2007 330–338CrossRefGoogle Scholar
Matson, J.L.Carlisle, C.B.Bamburg, J.W.The convergent validity of the matson evaluation of social skills in persons with severe retardation (MESSIER) Research in Developmental Disabilities. 19 1998 493–500CrossRefGoogle Scholar
Matson, J.L.LeBlanc, L.A.Weinheimer, B.Cherry, K.E.Reliability of the matson evaluation of social skills for individuals with severe retardation (MESSIER) Behavior Modification. 23 1999 647–661CrossRefGoogle Scholar
Matson, J.L.Nebel-Schalm, M.S.Matson, M.L.A review of methodological issues in the differential diagnosis of autism spectrum disorders in children: diagnostic systems and scaling methods Research in Autism Spectrum Disorders. 1 2007 38–54CrossRefGoogle Scholar
Matson, J.L.Wilkins, J.A critical review of assessment targets and methods for social skills excesses and deficits for children with autism spectrum disorders Research in Autism Spectrum Disorders. 1 2007 28–37CrossRefGoogle Scholar
Moore, V.Goodson, S.How well does early diagnosis of autism stand the test of time? Follow-up study of children assessed for autism at age 2 and development of an early diagnostic service Autism. 7 2003 47–63Google ScholarPubMed
Mount, R.H.Charman, T.Hastings, R.P.Reilly, S.Cass, H.Features of autism in Rett syndrome and severe mental retardation Journal of Autism and Developmental Disorders. 33 2003 435–442CrossRefGoogle ScholarPubMed
Mount, R.H.Charman, T.Hastings, R.P.Reilly, S.Cass, H.The Rett syndrome behaviour questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome Journal of Child Psychology and Psychiatry. 43 2002 1099–1110CrossRefGoogle ScholarPubMed
Olson, B.Autistic traits in the Rett syndrome Brain and Development. 9 1987 491–498CrossRefGoogle Scholar
Olson, B.Rett, A.Behavioral observations concerning differential diagnosis between Rett syndrome and autism Brain and Development. 7 1985 281–289CrossRefGoogle Scholar
Olson, B.Rett, A.Autism and Rett syndrome: behavioral investigations and differential diagnosis Developmental Medicine and Child Neurology. 29 1987 429–441Google Scholar
Petel-Galil, Y.Benteer, B.Galil, Y.P.Zeev, B.B.Greenbaum, I.Vecsler, M.et al.Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-Cp6-binding protein 2 gene: study of a cohort of Israeli patients Journal of Medical Genetics. 43 2006 e56CrossRefGoogle ScholarPubMed
Rett, A.Ube ein eigenartiges hirnatrophisches syndrome bei hyperammonaemie im Kindesalter Wiener Medizinische Wochenschrift. 116 1966 723–726Google Scholar
Roid, G.H.Stanford–Binet intelligence scales 5th ed. 2003 Riverside Publishing Itasca, ILGoogle Scholar
Ryan, D.McGregor, F.Akermanis, M.Southwell, K.Ramke, M.Woodyatt, G.Facilitating communication in children with multiple disabilities: three case studies of girls with Rett syndrome Disability and Rehabilitation. 26 2004 1268–1277CrossRefGoogle ScholarPubMed
Shahbazian, M.D.Zoghbi, H.Y.Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations Current Opinion in Neurobiology. 14 2001 171–176CrossRefGoogle ScholarPubMed
Sigafoos, J.Woodyatt, G.Educational implications of Rett syndrome European Journal of Mental Disability. 3 1996 19–28Google Scholar
Sparrow, S.S.Balla, D.A.Cicchetti, D.V.Vineland adaptive behavior scale, expanded form manual 1984 American Guidance Services/Circle Pines MNGoogle Scholar
Symes, M.D.Remington, B.Brown, T.Hastings, R.P.Early intensive behavioral intervention for children with autism: therapists' perspectives on achieving procedural fidelity Research in Developmental Disabilities. 27 2006 30–42CrossRefGoogle ScholarPubMed
Tsai, L.Y.Is Rett syndrome a subtype of pervasive developmental disorder? Journal of Autism and Developmental Disorders. 22 1992 551–561CrossRefGoogle Scholar
Weaving, L.S.Ellaway, C.J.Gecz, J.Christodoulou, J.Rett syndrome: clinical review and genetic update Journal of Medical Genetics. 42 2005 1–7CrossRefGoogle ScholarPubMed
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