Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ Rett syndrome ++ 299 Pervasive developmental disorders ++ F84.2 Rett syndrome ++ 5E: Impaired motor function and sensory integrity associated with progressive disorders of the central nervous system3 +++ Description ++ Mutation in the X chromosome gene encoding methyl-CpG-binding protein-2Progressive genetic disorder characterized byRegression of motor skillsWringing of handsDystoniaHypotoniaBruxismAtaxic gait4 +++ Essentials of Diagnosis ++ 4 stages5,6Stage 1: developmental arrest (6 to 18 months): lack of eye contact, head growth slows, hypotonia, development plateaus, hand wringing, breath holdingStage 2: rapid regression (1 to 4 years old): wringing of hands, no expressive speech, seizures, developmental decline, sleep disorder, strabismusStage 3: pseudostationary period (2 to 10 years old): ataxia, rigidity, bruxism, good eye contact, oral motor dysfunctionStage 4: late motor deterioration and growth retardation (over 10 years old): Parkinsonism (drooling, bradykinesia), hypertonia, dystonia, arrest in cognitive decline +++ General Considerations ++ Associated disordersEarly onset seizures (60 to 90%)6Lack of speechRepetitive behaviorsGastrointestinal disordersSwallowing disordersSleeping during daySudden deathUnusual breathing pattern5 +++ Demographics ++ Primarily occurs in young girls41 in 10,000-20,0005 +++ Signs and Symptoms ++ Plateau or regression in motor skillsWringing of handsDelays in the following areasGross motor skillsOral motor skills7Speech and/or language skills7Bruxism4Ataxia8Spasticity8 (late sign)Kyphoscoliosis (8- to 11-year-olds)6,8Foot deformities8 (late sign) +++ Functional Implications ++ HypotoniaPoor head control as infantLack of functional hand useInability to communicateUnable to follow directionsInability to ambulate +++ Possible Contributing Causes ++ Genetic mutation of Xq285 +++ Differential Diagnosis ++ AutismInfantile spasmsAngelman syndrome5 +++ Laboratory Tests ++ DNA analysisAbnormal metabolites in cerebrospinal fluid4 +++ Imaging ++ Barium swallow6 +++ Medical Procedures ++ Echocardiogram for cardiac defectsElectroencephalogram for seizures ++ Abnormal levels of 5-hydroxyindoleatic acid and catecholamine metabolites are found in the cerebrospinal fluid4 +++ Medication ++ Naltrexone for breathing difficultiesBromocriptineCarnitineLamotrigineCarbamazepineValproic acid ++ GeneticistNeurologistOrthopedist for possible scoliosisOccupational therapistSpeech therapist ++ Decreased strengthInability to ambulateDifficulty with transfersLack of functional hand useDependent for activities of daily living ++ Bayley Scales of Motor Development or Bayley IIPeabody Scales of Motor DevelopmentMovement Assessment of InfantsNeonatal Behavioral Assessment ScaleEarly Intervention Developmental ProfileTest of Infant Motor Performance... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.