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32 Cards in this Set
- Front
- Back
What kind of diagnosis is made with Rett Syndrome?
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Clinical because not all presentations have the mutation.
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How are babies with Rett Syndrome described?
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Good, quiet babies...too quiet.
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Shortly after birth, there is a deceleration in the growth of what?
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The head
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Babies with Rett syndrome are often mis-diagnosed with what?
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Autism
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What is characteristic about the child's overall progression?
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They develop purposeful hand movements and vocabulary and then lose them.
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When do the stereotypic hand movements present?
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During the day; 12-18 months
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How would you describe the gait of someone with this disorder?
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Apraxic
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What about the patient's breathing is a characteristic of Rett?
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Hyperventilation and breath holding
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What are the girls at an increased risk for?
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Scoliosis
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Is this disease recurrent in families?
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No
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Where is the genetic variation?
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The X chromosome
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How are some girls more heavily affected than others?
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Skewed x-inactivation
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Can Rett syndrome girls conceive?
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Yes they undergo puberty at a normal time.
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What percentage of normal brain weight do Rett syndrome patients have?
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60-70%
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What is the normal life expectancy?
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35 years of age
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What specific areas of the brain are reduced?
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Frontal, temporal and the caudate and substantia nigra (melanin areas)
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Is there neurodegeneration in these patients?
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No there is only loss of neuron size due to small dendritic arbor.
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What protein is affected in Rett syndrome? What is its job?
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Methyl-CpG binding protein 2; transcriptional repressor
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What sort of gradient in normal tissues is seen with the affected protein?
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Rostral to caudal
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What domain of the protein binds to the CpG dinucleotide? What exons?
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Methyl binding domain; 3 and 4
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What are the two active domains in the affected protein?
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MBP and TRD
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What are milder forms of the disease associated with in relation to the mutation
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Seen in the C-terminus
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Which variant of the affected protein is expressed highly in the brain?
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MecP2b
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Phenotypes seen in females (6)
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1. Rett Syndrome
2. Speech Variant 3. Delayed onset 3-4 years 4. Mild learning disabilities 5. Angelman syndrome 6. Normal carriers |
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Phenotypes in males (4)
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1. Fatal encephalopathy
2. Rett/Klinefelter 3. X-linked mental retardation 4. Somatic mosaicism |
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What mutation is the most severe in Rett syndrome?
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Nonsense mutations
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Were there differences in severity based on the two active sites?
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No
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Mis-sense mutations in the C-terminus had a phenotype of?
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X-linked mental retardation
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What is being used as a therapy for Rett syndrome?
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Folate-betaine as a CpG binding protein alternative
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What are some ocular problems that can develop in Rett patients?
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Temporary strabismus
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What is the abnormal positioning of the joint that is prevelant in Rett patients?
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Dystonia
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Which areas of the brain do you see a reduction of size in with Rett patients?
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Frontal, temporal caudate and pigmented areas
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