A review of the literature on Rett syndrome (RS) for school-based professionals is presented from a behavioral perspective. A description of RS is provided, including distinctive physical, behavioral, and emotional features, diagnostic criteria for classic and formes frustes forms of RS, and stages of the disorder. The similarities and differences between RS and autism are reviewed. Controversies regarding the classification of RS are presented, including whether RS should be classified as a neurological or psychiatric condition and whether RS should remain classified as a pervasive developmental disorder. Last, a variety of options for the treatment of RS are discussed.
American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders(4th ed., text revision)). Washington, DC: Author.
2.
AmirR. E.Van den VeyverI. B.WanM.TranC. Q.FranckeU.ZoghbiH. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185–188.
3.
Bahi-BuissonN.GuellecI.NabboutR.GuetA.NguyenG.DulacO.ChironC. (2008). Parental view of epilepsy in Rett syndrome. Brain and Development, 30, 126–130.
4.
BashinaV. M.SimashkovaN. V.GrachevV. V.GorbachevskayaN. L. (2002). Speech and motor disturbances in Rett syndrome. Neuroscience and Behavioral Physiology, 32(4), 323–327.
5.
BassettG. S.ToloV. T. (1990). The incidence and natural history of scoliosis in Rett syndrome. Developmental Medicine and Child Neurology, 32(11), 963–966.
6.
Bat-HaeeM. A. (1994). Behavioral training of a young woman with Rett syndrome. Perceptual and Motor Skills, 78, 314–314.
7.
BebbingtonA.AndersonA.RavineD.FyfeS.PinedaM.de KlerkN.Ben-ZeevB.YatawaraN.PercyA.KaufmannW. E.LenonardH. (2008). Investigating genotype-phenotype relationships in Rett syndrome using an international data set. American Academy of Neurology, 70, 868–875.
8.
BoberD.SabzwariU.StarJ. E. (2005). Olanzapine in Rett’s disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 44(8), 726–727.
9.
BurdL.VesleyB.MartsolfJ. T.KerbeshianJ. (2005). Prevalence study of Rett syndrome in North Dakota children. American Journal of Medical Genetics, 38, 565–568.
10.
ChoiY.-C.LeeB.-I.HuhK.KimG. W. (1991). Rett’s syndrome in Korea. Yonsei Medical Journal, 32(3), 172–178.
11.
EvansI. M.MeyerL. H. (1999). Modifying adult interactional style as a positive behavioural intervention for a child with Rett syndrome. Journal of Intellectual and Developmental Disability, 24(3), 191–205.
12.
FujinoK.HashimotoT. (1989). Studies on the Rett syndrome. Part 1. Prevalence of the Rett syndrome (in Japanese). No to Hattatsu, 21, 517–522.
13.
FiumaraA.PavoneL.SicilianoL.NigroF. (1990). Autism in Rett syndrome. Brain Dysfunction, 3(5–6), 245–248.
14.
GathA. (1989). Theory and therapy of psychosis in childhood: Experience in England. Italian Journal of Intellective Impairment, 2(2), 123–130.
15.
GernsbacherM. A.DawsonM.GoldsmithH. H. (2005). Three reasons not to believe in an autism epidemic. Current Directions in Psychological Science, 14(2), 55–58.
16.
GillbergC. (1994). Debate and argument: Having Rett syndrome in the ICD-10 PDD category does not make sense. Journal of Child Psychology and Psychiatry, 35(2), 377–378.
17.
GillbergC. (1997). Communication in Rett syndrome complex. European Child and Adolescent Psychiatry, 6(1), 21–22.
18.
GillbergC.EhlersS.WahlströmJ. (1990). The syndromes described by Kanner and Rett-Hagberg: Overlap in an extended family. Developmental Medicine and Child Neurology, 32, 258–261.
19.
GorbachevskayaN.BashinaV.GratchevV.IznakA. (2001). Cerebrolysin therapy in Rett syndrome: Clinical and EEG mapping study. Brain and Development, 23, S90–S93.
20.
HagbergB. (1985). Rett’s syndrome: Prevalence and impact on progressive severe mental retardation in girls. Acta Paediatrica Scandinavica, 74, 405–408.
21.
HagbergB.AicardiJ.DiasK.RamosO. (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(4), 471–479.
22.
HagbergB.Witt-EngerströmI. (1986). Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence. Journal of American Medical Genetics, 24(S1), 47–59.
23.
HanksS. B. (1986). The role of therapy in Rett syndrome. American Journal of Medical Genetics, 24(1), 247–252.
24.
HolmV. A. (1985). Rett’s syndrome: A progressive developmental disability in girls. Developmental and Behavioral Pediatrics, 6(1), 32–36.
25.
KerrA. M. (2003). Individuals with Rett disorder and the role of the physician. Primary Psychiatry, 10(2), 59–62.
26.
KerrA. M.StephensonJ. B. P. (1985). Rett syndrome in the West Scotland. British Medical Journal, 291, 579–582.
27.
KlinA.VolkmarF. R. (1995). Autism and the pervasive developmental disorders. Child and Adolescent Psychiatric Clinics of North America, 4(3), 617–630.
28.
KozinetzC. A.SkenderM. L.MacNaughtonN.AlmesM. J.SchultzR. J.PercyA. K.GlazeD. G. (1993). Epidemiology of Rett syndrome: A population-based registry. Pediatrics, 91(2), 445–450.
29.
LarssonG.Witt-EngerströmI. (2001). Gross-motor ability in Rett syndrome: The power of expectation, motivation, and planning. Brain and Development, 23(Suppl1), S77–S81.
30.
LaurvickC. L.de KlerkN.BowerC.ChristodoulouJ.RavineD.EllawayC.WilliamsonS.LenonardH. (2006). Rett syndrome in Australia: A review of epidemiology. Journal of Pediatrics, 148, 347–352.
31.
LavåsJ.SlotteA.Jochym-NygrenM.Van DoornJ.Witt-EngerströmI. (2006). Communication and eating proficiency in 125 females with Rett syndrome: The Swedish Rett center survey. Disability and Rehabilitation, 28(20), 1267–1279.
32.
LeonardH.SilbersteinJ.FalkR.Houwink-ManvilleI.EllawayC.RaffaeleL. S.Witt EngerströmI.SchanenC. (2001). Occurrence of Rett syndrome in boys. Journal of Child Neurology, 16(5), 333–338.
33.
MagiatiI.HowlinP. (2003). A pilot evaluation study of the Picture Exchange Communication System (PECS) for children with autistic spectrum disorders. Autism, 7(3), 297–320.
34.
MashE. J.WolfeD. A. (2005). Abnormal child psychology. Belmont, CA: Thomson-Wadsworth.
35.
MazzoccoM. M.PulsiferM.FiumaraA.CocuzzaM.NigroF.IncorporaG.BaroneR. (1998). Brief report: Autistic behaviors among children with fragile X or Rett syndrome: Implications for the classification of pervasive developmental disorder. Journal of Autism and Developmental Disorders, 28(4), 321–328.
36.
McArthurA. J.BuddenS. S. (1998). Sleep dysfunction in Rett syndrome: A trial of exogenous melatonin treatment. Developmental Medicine and Child Neurology, 40(3), 186–192.
37.
MercadanteM. T.Van der GaagR. J.SchwartzmanJ. S. (2006). Non-autistic pervasive developmental disorders: Rett’s syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified. Revista Brasileira de Psiquiatria, 28(Suppl1), S12–S20.
38.
MiyamotoA.OkiJ.TakahashiS.OkunoA. (1999). Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome. Brain and Development, 21(1), 29–62.
39.
MountR. H.CharmanT.HastingsR. P.ReillyS.CassH. (2002). The Rett syndrome behaviour questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry, 43(8), 1099–1110.
40.
MountR. H.CharmanT.HastingsR. P.ReillyS.CassH. (2003). Features of autism in Rett syndrome and severe mental retardation. Journal of Autism and Developmental Disorders, 33(4), 435–442.
41.
MountR. H.HastingsR. P.ReillyS.CassH.CharmanT. (2001). Behavioural and emotional features in Rett syndrome. Disability and Rehabilitation, 23(3–4), 129–138.
42.
MountR. H.HastingsR. P.ReillyS.CassH.CharmanT. (2002). Behaviour problems in adult women with Rett syndrome. Journal of Intellectual Disability Research, 46(8), 619–624.
43.
MountR. H.HastingsR. P.ReillyS.CassH.CharmanT. (2003). Towards a behavioral phenotype for Rett syndrome. American Journal of Mental Retardation, 108(1), 1–12.
44.
NassR.GrossA.WisoffJ.DevinskyO. (1999). Outcome of multiple subpial transactions for autistic epileptiform regression. Pediatric Neurology, 21, 464–470.
45.
PercyA.GillbergC.HagbergB.Witt-EngerströmI. (1990). Rett syndrome and the autistic disorders. Pediatric Neurology, 8(3), 659–676.
46.
PercyA. K.ZoghbiH. Y.LewisK. R.JankovicJ. (1988). Rett syndrome: Qualitative and quantitative differentiation from autism. Journal of Child Neurology, 3(Suppl), 65–67.
47.
PerryA. (1991). Rett syndrome: A comprehensive review of the literature. American Journal on Mental Retardation, 96(3), 275–290.
48.
PiazzaC. C.AndersonC.FisherW. (1993). Teaching self-feeding skills to patients with Rett syndrome. Developmental Medicine and Child Neurology, 35(11), 991–996.
49.
PizzamiglioM. R.NastiM.PiccardiL.ZottiA.VitturiniC.SpitoniG.NanniM. V.GuarigliaC.MorelliD. (2008). Sensory-motor rehabilitation in Rett syndrome. Focus on Autism and Other Developmental Disabilities, 23(1), 49–62.
50.
RettA. (1966). Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter. Wiener medizinische Wochenschrift, 116, 723–738.
51.
Rett Syndrome Diagnostic Criteria Work Group. (1988). Diagnostic criteria for Rett Syndrome. Annals of Neurology, 23, 425–428.
52.
RoaneH. S.PiazzaC. C.SgroG. M.VolkertV. M.AndersonC. M. (2001). Analysis of aberrant behaviour associated with Rett syndrome. Disability and Rehabilitation, 23(3–4), 139–148.
53.
RutterM. (1994). Debate and argument: There are connections between brain and mind and it is important that Rett syndrome be classified somewhere. Journal of Child Psychology and Psychiatry, 35(2), 379–381.
54.
RutterM.SchoplerE. (1992). Classification of pervasive developmental disorders: Some concepts and practical considerations. Journal of Autism and Developmental Disorders, 22(4), 459–482.
55.
SansomD.KrishnanV. H.CorbettJ.KerrA. (1993). Emotional and behavioural aspects of Rett syndrome. Developmental Medicine and Child Neurology, 35(4), 340–345.
56.
SidenerT. M.CarrJ. E.FirthA. M. (2005). Superimposition and withholding of edible consequences as treatment for automatically reinforced stereotypy. Journal of Applied Behavior Analysis, 38(1), 121–124.
57.
SmeetsE. E.JuluP. O.van WaardenburgD.Witt-EngerströmI.HansenS.ApartopoulosF.CurfsL. M. G.Schrander-StumpelC. T. R. M. (2006). Management of a severe forceful breather with Rett syndrome using carbogen. Brain and Development, 28, 625–632.
58.
SmithT.KlevstrandM.LovaasO. I. (1995). Behavioral treatment in Rett’s disorder: ineffectiveness in three cases. American Journal on Mental Retardation, 100(3), 317–322.
59.
SymesW.HumphreyN. (2010). Peer-group indicators of social inclusion among pupils with autistic spectrum disorders (ASD) in mainstream secondary schools: A comparative study. School Psychology International, 31(5), 478–494.
60.
TsaiL. Y. (1992). Is Rett syndrome a subtype of pervasive developmental disorders?. Journal of Autism and Developmental Disorders, 22(4), 551–561.
Van CampC. M.VollmerT. R.DanielD. (2001). A systematic evaluation of stimulus preference, response effort, and stimulus control in the treatment of automatically reinforced self-injury. Behavior Therapy, 32(3), 603–613.
63.
WalesL.CharmanT.MountR. H. (2004). An analogue assessment of repetitive hand behaviours in girls and young women with Rett syndrome. Journal of Intellectual Disability Research, 48(7), 672–678.
64.
WatsonJ. S.UmanskyR.MarcyS.JohnstonC.RepacholiB. (1996). Behavioral competition in a case of Rett syndrome. Journal of Applied Developmental Psychology, 17, 553–575.
65.
WigramT.LawrenceM. (2005). Music therapy as a tool for assessing hand use and communicativeness in children with Rett syndrome. Brain and Development, 27(Suppl1), S95–S96.
66.
Willemsen-SwinkelsS. H.BuitelaarJ. K. (2002). The autistic spectrum: Subgroups, boundaries, and treatment. Psychiatric Clinics of North America, 25, 811–836.
67.
WingL. (1996). The autistic syndromes. London: Constable.
68.
Wolf-ScheinE. (1996). The autistic spectrum disorder: A current review. Developmental Disabilities Bulletin, 24(1), 33–55.
69.
WoodsK.ParkinsonG.LewisS. (2010). Investigating access to educational assessment for students with disabilities. School Psychology International, 31(1), 21–41.
70.
YasuharaA.SugiyamaY. (2001). Music therapy for children with Rett syndrome. Brain and Development, 23(Suppl1), S82–S84.
71.
YoungD.NagarajanL.de KlerkN.JacobyP.EllawayC.LeonardH. (2007). Sleep problems in Rett syndrome. Brain and Development, 29, 609–616.
