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statussuccessupdateneededfalseinstancefalsemetarequest_last0request_next%3 A0used_cachetruedatakey436UEE9 Klibraryid19955111metacreat orSummaryKyleetal.parsedDate2018n umChildren1bibltdivclassquotcsl-b ib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotsty lequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotf loatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdiv classquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtKyleSMVashiN%2 0JusticeMJ.Rettsyndromeaneurologicaldisorderwithmetaboliccomponents.OpenBiolInternet.2018cited%2 02023Feb1982170216.Availablefromlta class039zp-ItemURL039href039https royalsocietypublishing.orgdoi10.1098rsob.170216039gthttpsroyalsocietypublishing.orgd oi10.1098rsob.170216ltagtltdiv gtnltdivgtnltdivgt dataitemTypejournalArticletitleRettsyndromeaneurologicaldisorderwithmetaboliccompose ntscreatorscreatorTypeauthorfirstNameStephanieM.lastNameKylecre atorTypeauthorfirstNameNeetilastNameVashicreatorTypeauthorfirstName%3 AMonicaJ.lastNameJusticeabstractNoteRettsyndromeRTTisaneurologicaldisorderc ausedbymutationsintheX-linkedgenemethyl-CpG-bindingprotein2nMECP2n aubiquitouslyexpressedtranscriptionalregulator.Despiteremarkablescientificpro gresssinceitsdiscoverythemechanismbywhichn MECP2n mutationscauseRTTsymptomsislargelyunknown.Consequentlytreatmentoptionsforpatientsarecurrently limitedandcentredonsymptomrelief.ThoughttobeanentirelyneurologicaldisorderRTTresearchhasfocusedo ntheroleofnMECP2n% 20inthecentralnervoussys tem.Howeverthevarietyofphenotypesidentifiedinn%2 0Mecp2n%2 0mutantmousemodelsandRTTpatientsimplicateimportantrolesforMeCP2inperipheralsystems.Here wereviewthehistoryofRTThighlightingbreakthroughsinthefieldthathaveledustopresentday.Weexpl orethecurrentevidencesupportingmetabolicdysfunctionasacomponentofRTTpresentingrecentstudiesthathav erevealedperturbedlipidmetabolisminthebrainandperipheraltissuesofmousemodelsandpatients.Suchfinding smayhaveanimpactonthequalityoflifeofRTTpatientsasbothdietaryanddruginterventioncanalter lipidmetabolism.UltimatelyweconcludethatathoroughknowledgeofMeCP2039svariedfunctionaltargetsin%2 0thebrainandbodywillberequiredtotreatthiscomplexsyndrome.date022018section% 22partNumberpartTitleDOI 10.1098rsob.170216citationKeyurlh ttpsroyalsocietypublishing.orgdoi10.1098rs ob.170216PMIDPMCIDISSN%2 22046-2441languageencollectionsAV4DY 38YdateModified2026-05-09T061356Z
1.
Kyle SM, Vashi N, Justice MJ. Rett syndrome: a neurological disorder with metabolic components. Open Biol [Internet]. 2018 [cited 2023 Feb 19];8(2):170216. Available from: https://royalsocietypublishing.org/doi/10.1098/rsob.170216
Rett syndrome, a neurodevelopmental disorder linked to the X chromosome (MECP2 gene), typically progresses through four defined clinical stages that mark its developmental trajectory:
- Stage I (Early Onset – 6 to 18 months): Subtle slowing of development, loss of interest in play, and slowing of head growth.
- Stage II (Rapid Destruction – 1 to 4 years): Rapid regression of language and voluntary use of the hands, appearance of characteristic manual stereotypies (hand washing), irritability and breathing disorders while awake.
- Stage III (Pseudostationary – 2 to 10 years): Stabilization of motor symptoms. It highlights apraxia, epileptic seizures and progressive scoliosis, although eye contact (eye communication) improves.
- Stage IV (Late Motor Impairment – older than 10 years): Loss of mobility or ambulation if present, rigidity, spasticity, muscle atrophy and generalized weakness. Cognitive and ocular communication functions are usually preserved in this stage.