References
- KirbyRSLaneJBChildersJLongevity in Rett Syndrome: analysis of the North American DatabaseJ Pediatr2010156113513819772971
- FehrSDownsJBebbingtonALeonardHAtypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeAm J Med Genet A2010152A102535254220815036
- AmirREVan Den VeyverIBWanMTranCQFranckeUZoghbiHYRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Nat Genet199923218518810508514
- RettAÜber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]Wien Medizin Wochschr196611637723726 German
- MonteggiaLMKavalaliETRett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmissionBiol Psychiatry2009653020421019058783
- RettAThe mystery of the Rett syndromeBrain Dev199214supplS141S1421626626
- TemudoTSantosMRamosERett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesBrain Dev2011331697620116947
- HagbergBGoutièresFHanefeldFRettAWilsonJRett syndrome: criteria for inclusion and exclusionBrain Dev1985733723734061772
- HagbergBHanefeldFPercyASkjeldalOAn update on clinically applicable diagnostic criteria in Rett syndromeEur J Pediatr Neurol200265293297
- NeulJLKaufmannWEGlazeDGRett syndrome: revised diagnostic criteria and nomenclatureAnn Neurol201068694495021154482
- HardwickSAReuterKWilliamsonSLDelineation of large deletions of the MeCP2 gene in Rett syndrome patients, including a familial case with a male probandEur J Hum Genet200715121218122917712354
- MorettiPZoghbiHYMeCP2 dysfunction in Rett syndrome and related disordersCurr Opin Genet Dev200616327628116647848
- MoserSJWeberPLütschgJRett syndrome: clinical and electrophysiologic aspectsPediatr Neurol20073629510017275660
- JianLNagarajanLde KlerkNPredictors of seizure onset in Rett syndromeJ Pediatr2006149454254717011329
- PintaudiMCalevoMGVignoliAEpilepsy in Rett syndrome: clinical and genetic featuresEpilepsy Behav201019329630020728410
- NissenkornAGakEVecslerMReznikHMenascuSBen ZeevBEpilepsy in Rett syndrome – the experience of a National Rett CenterEpilepsia20105171252125820491871
- ZoghbiHYRett syndrome: what do we know for sure?Nat Neurosci200912323924019238181
- MatsonJLDempseyTWilkinsJRett syndrome in adults with severe intellectual disability: exploration of behavioral characteristicsEur Psychiatry200823646046518207372
- HagbergBWitt-EngerströmIRett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescenceAm J Med Genet Suppl1986147593087203
- DunnHGImportance of Rett syndrome in child neurologyBrain Dev200123suppl 1S38S4311738840
- LimFDownsJLiJBaoXHLeonardHCaring for a child with severe intellectual disability in China: the example of Rett syndromeDisabil Rehabil201335434335122992162
- FoleyKRDownsJBebbingtonAChange in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year periodJ Child Neurol201126101237124521636779
- GrilloELo RizzoCBianciardiLRevealing the complexity of a monogenic disease: rett syndrome exome sequencingPLoS One201382e5659923468869
- EliaMFalcoMFerriRCDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsyNeurology2008711399799918809835
- PiniGBigoniSEngerströmIWVariant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 casesNeuropediatrics2012431374322430159
- SignoriniCDe FeliceCDurandTIsoprostanes and 4-hydroxy-2-nonenal: markers or mediators of disease? Focus on Rett syndrome as a model of autism spectrum disorderOxid Med Cell Longev2013201334382423844273
- SegawaMEarly motor disturbances in Rett syndrome and its pathophysiological importanceBrain Dev200527suppl 1S54S5816182486
- CarotenutoMEspositoMD’AnielloAPolysomnographic findings in Rett syndrome: a case-control studySleep Breath2013171939822392651
- BianciardiGAcampaMLambertiIMicrovascular abnormalities in Rett syndromeClin Hemorheol Microcirc201354110911323481597
- PrinceERingHCauses of learning disability and epilepsy: a reviewCurr Opin Neurol201124215415821293271
- DolceABen-ZeevBNaiduSKossoffEHRett syndrome and epilepsy: an update for child neurologistsPediatr Neurol201348533754523583050
- ZysmanLLotanMBen-ZeevBOsteoporosis in Rett syndrome: a study on normal valuesScientific World Journal200661619163017173180
- GonnelliSCaffarelliCHayekJBone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal studyBone200842473774218242156
- O’ConnorRDZayzafoonMFarach-CarsonMCSchanenNCMecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndromeBone200945234635619414073
- HofstaetterJGRoetzerKMKreplerPAltered bone matrix mineralization in a patient with Rett syndromeBone201047370170520601296
- De FeliceCSignoriniCLeonciniSThe role of oxidative stress in Rett syndrome: an overviewAnn N Y Acad Sci2012125912113522758644
- MotilKJBarrishJOLaneJVitamin D deficiency is prevalent in girls and women with Rett syndromeJ Pediatr Gastroenterol Nutr201153556957421637127
- MotilKJCaegEBarrishJOGastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndromeJ Pediatr Gastroenterol Nutr201255329229822331013
- LarssonGLindströmBWitt-EngerströmIRett syndrome from a family perspective: the Swedish Rett Center surveyBrain Dev200527suppl 1S14S1916182488
- DownsJBebbingtonAJacobyPLevel of purposeful hand function as a marker of clinical severity in Rett syndromeDev Med Child Neurol201052981782320345957
- BaptistaPMMercadanteMTMacedoECSchwartzmanJSCognitive performance in Rett syndrome girls: a pilot study using eyetracking technologyJ Intellect Disabil Res200650966266616901293
- DjukicAMcDermottMVSocial preferences in Rett syndromePediatr Neurol201246424024222490770
- MarschikPBKaufmannWEEinspielerCProfiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndromeRes Dev Disabil20123361749175622699249
- MarschikPBKaufmannWESigafoosJChanging the perspective on early development of Rett syndromeRes Dev Disabil20133441236123923400005
- LotanMIsakovEMerrickJImproving functional skills and physical fitness in children with Rett syndromeJ Intellect Disabil Res200448873073515494062
- LaneJBLeeHSSmithLWClinical severity and quality of life in children and adolescents with Rett syndromeNeurology201177201812181822013176
- LarssonGJuluPOWitt-EngerströmISandlundMLindströmBNormal reactions to orthostatic stress in Rett syndromeRes Dev Disabil20133461897190523584170
- HalbachNSmeetsESteinbuschCMaaskantMvan WaardenburgDCurfsLAging in Rett syndrome: a longitudinal studyClin Genet201384322322923167724
- HaleySMCosterWJLudlowLHHaltiwangerJAndrellasPPediatric Evaluation of Disability Inventory (PEDI)BostonBoston University1992
- ManciniMCInventário de Avaliação Pediátrica de Incapacidade (PEDI). [Pediatric Evaluation of Disability Inventory (PEDI).]Belo Horizonte, BrazilUFMG2005
- De Mello MonteiroCBAraujoDZSilvaTDQuantitative comparison of mobility and gross motor function in Brazilian children with cerebral palsyHealth Med20126724642470
- De Brito BrandãoMManciniMCVazDVPereira de MeloAPFonsecaSTAdapted version of constraint-induced movement therapy promotes functioning in children with cerebral palsy: a randomized controlled trialClin Rehabil201024763964720530645
- GuaranyNRSchwartzIVGuaranyFCGiuglianiRFunctional capacity evaluation of patients with mucopolysaccharidosisJ Pediatr Rehabil Med201251374622543891
- MalheirosSRMonteiroCBMda SilvaTDFunctional capacity and assistance from the caregiver during daily activities in Brazilian children with cerebral palsyInt Arch Med201361123302576
- ÖhrvallAMEliassonACLöwingKÖdmanPKrumlinde-SundholmLSelf-care and mobility skills in children with cerebral palsy, related to their manual ability and gross motor function classificationsDev Med Child Neurol201052111048105520722662
- CohenJStatistical Power Analysis for the Behavioral Sciences2nd edHillsdale, NJLawrence Erlbaum Associates1988
- LinKCChenHFChenCLValidity, responsiveness, minimal detectable change, and minimal clinically important change of the Pediatric Motor Activity Log in children with cerebral palsyRes Dev Disabil201233257057722119706
- TellegenCLSandersMRStepping Stones Triple P-Positive Parenting Program for children with disability: a systematic review and meta-analysisRes Dev Disabil20133451556157123475006
- NomuraYSegawaMMotor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movementBrain Dev199214supplS21S281626630
- HagbergBRett syndrome: clinical peculiarities, diagnostics approach, and possible causePediatr Neurol19895275832653342
- SegawaMNomuraYRett syndromeCurr Opin Neurol20051829710415791137
- MountRHCharmanTHastingsRPReillySCassHThe Rett syndrome behaviour questionnaire (RSBQ): refining the behavioural phenotype of Rett syndromeJ Child Psychol Psychiatr200243810991110
- FabioRAGiannatiempoSAntoniettiABuddenSThe role of stereotypies in overselectivity process in Rett syndromeRes Dev Disabil200930113614518359187
- LarssonGWitt-EngerströmIGross motor ability in Rett syndrome: the power of expectation, motivation and planningBrain Dev2001237781
- ArmstrongDDThe neuropathology of Rett syndromeBrain Dev199214supplS89S981626639
- SegawaMDiscussant: pathophysiologies of Rett syndromeBrain Dev200123suppl 1S218S22311738876
- ColvinLLeonardHKlerkNRefining the phenotype of common mutations in Rett syndromeJ Med Genet2004411253014729826
- KerrAMEarly clinical signs in the Rett disorderNeuropediatrics199426267717566455
- GratchevVVBashinaVMKlushnikTPUlasVUGorbachevskayaNLVorsanovaSGClinical, neurophysiological and immunological correlations in classical Rett syndromeBrain Dev200123suppl 1S108S11211738854