Rett Syndrome Report
Cathy Qian
Clinical features
Rett Syndrome (RTT) is a genetic disease which presents with a seemingly normal development up until 1-3 years of age.
The disease is only present in females, as it is an X-linked dominant disorder and males with a defective X chromosome die prematurely. It is rare, with an estimate of 1:10000 - 1:15000 live female births. (4)
This is when Stage II begins, with deterioration of mental processes. The rate of deterioration varies. Symptoms include babble or loss of speech, unable to use hands properly, no wanting to socialize, not sleeping well and poor head growth. (1)
Stage III is when the deterioration reaches a plateau, with the landmarks of the disease present. These include: stereotyped …show more content…
Mutations in the gene coding for Cyclin-Dependent Kinase-Like 5 (CDKL5) present like early-seizure onset Rett 's and cause severe mental retardation. They can show features similar to Rett Syndrome even lacking the MECP2 mutation. (8) Patients with mutations in the FOXG1 gene can present with the congenital variant of Rett’s. The gene codes for a protein which may share common roles with MECP2 in brain development. (9)
Diagnosis
Diagnosis of Rett’s is clinical, not genetic. The main criteria, the key component of diagnosis of Rett’s include: loss of hand skills, spoken language, and normal gait, plus stereotyped hand movements. See Fig 1 for details.
Testing
There is a diagnostic test available for Rett’s Syndrome which finds the mutation for up to 95% of females with typical Rett’s. A combination of sequencing via PCR (finds 80-85% cases) and deletion analysis (adds another 10%) is used for the test. This gives a very sensitive test.
The test can be requested when a clinician or parent wants it.Since symptoms of Rett’s are highly varied, doctors often have a hard time knowing when to refer a patient to be tested.
The test is expensive and time consuming and there is no specific screening test. The expense of the test, the lack of an effective treatment and low incidence of Rett’s provides disincentive for the test to be widely
Cathy Qian
Clinical features
Rett Syndrome (RTT) is a genetic disease which presents with a seemingly normal development up until 1-3 years of age.
The disease is only present in females, as it is an X-linked dominant disorder and males with a defective X chromosome die prematurely. It is rare, with an estimate of 1:10000 - 1:15000 live female births. (4)
This is when Stage II begins, with deterioration of mental processes. The rate of deterioration varies. Symptoms include babble or loss of speech, unable to use hands properly, no wanting to socialize, not sleeping well and poor head growth. (1)
Stage III is when the deterioration reaches a plateau, with the landmarks of the disease present. These include: stereotyped …show more content…
Mutations in the gene coding for Cyclin-Dependent Kinase-Like 5 (CDKL5) present like early-seizure onset Rett 's and cause severe mental retardation. They can show features similar to Rett Syndrome even lacking the MECP2 mutation. (8) Patients with mutations in the FOXG1 gene can present with the congenital variant of Rett’s. The gene codes for a protein which may share common roles with MECP2 in brain development. (9)
Diagnosis
Diagnosis of Rett’s is clinical, not genetic. The main criteria, the key component of diagnosis of Rett’s include: loss of hand skills, spoken language, and normal gait, plus stereotyped hand movements. See Fig 1 for details.
Testing
There is a diagnostic test available for Rett’s Syndrome which finds the mutation for up to 95% of females with typical Rett’s. A combination of sequencing via PCR (finds 80-85% cases) and deletion analysis (adds another 10%) is used for the test. This gives a very sensitive test.
The test can be requested when a clinician or parent wants it.Since symptoms of Rett’s are highly varied, doctors often have a hard time knowing when to refer a patient to be tested.
The test is expensive and time consuming and there is no specific screening test. The expense of the test, the lack of an effective treatment and low incidence of Rett’s provides disincentive for the test to be widely