1. Taylor Shuda
June 6, 2017
Overview of Special Education
Specific Disabilities Presentation – Autism Spectrum Disorders
Rett Syndrome
Definition:
Rhettsyndrome isa rare debilitatingneurodevelopmentdisorderthataffectsthe waythe brain growsand
develops,leadingtophysical andmental disabilityinchildhood thatmostlyaffectsgirls.
It isthe leadingcause of severe impairmentingirls (1:12,000 female births);
Occurs equallyinall racial andethnicgroupsaroundthe world;
As of 2015, studiessuggestalife expectancyformostgirlstobe at 47 years
Is the onlyautismspectrumdisorderwithaknowncause;and there isno cure.
Signs & Symptoms:
In earlystages,tendstoshow signs/symptoms likeautism.
Developmentisnormal until around 6-18 months,thendevelopmentslowsdownandchildrenbeginto
lose use of theirhands, slowedbraingrowth(Statistic:brainsof girlswithRStendto be about30% smaller
than normal) andeventuallyhave problemswith muscle coordination(walking)
Othersymptomsinclude: nolanguage/communication skills, breathingproblems,unusual eyemovements,
agitationand irritability,cognitive disabilities,seizures,irregularheartrate,andpain.
Causes of Rett Syndrome:
Rettsyndrome iscausedby a single gene mutation(gene MECP2) thatleadstounderproductionof an
importantbrainprotein. Rarelyinherited(lessthan1%).
Gene isfoundon the X chromosome (girlshave twoXchromosomesandboysonlyhave one),whichiswhy
isaffectsmainlygirls.
Whenboysdevelopthe Rettsyndrome mutation,theyrarelylive pastbirth.Boysonlyhave one X
chromosome,sothe effectsare more seriousandcanbe fatal.
Complications of Rett Syndrome Include:
Muscular: muscle weakness,inabilitytocombine muscle movements,stiff muscles,problemswith
coordination
Respiratory: abnormal breathingpatterns,episodesof nobreathing,rapidbreathing,orshallow breathing
Developmental:delayeddevelopmentorfailure tothrive
Behavioral: irritability orrepetitive movements
Cognitive:inabilitytocommunicate orunderstand,slownessinactivity
Also common:seizures,constipation,drooling,scoliosis,teethgrinding,ortremors
Treatments for Rett Syndrome:
There isno cure forRett syndrome; butthere are some treatmentsthatcan helpimprove symptomsand these
treatmentsoccurfor theirentire life. Treatmentsinclude:standardmedical care, medicationformovementor
seizures,(anticonvulsant,sedative,laxative,vitiamins),therapies:physical,speech,andoccupational,good
nutrition,behavioral therapy,andsupportiveservices.
Sources:
http://www.news-medical.net/health/Causes-of-Rett-Syndrome.aspx
http://healthresearchfunding.org/18-amazing-rett-syndrome-statistics/
