Rett Syndrome Resources – Testing

Except for the EKG, these tests do not need to be done every year, and not
every individual with RS will need them. I have amended the list below.

Long QT (EKG)at diagnosis and every 2-3 years if normal

Spinal X-ray – scoliosis survey in supine position (not sitting). Straight
as can be made. Baseline should be done at age4-5, followed by repeat
X-rays as recommended by an orthopedist.

Video EEG to establish events as seizures. Do not treat EEG, only treat
seizures. Frequency on recommendation by neurologist.

Reflux (pH Probe, Swallow Study, Endoscopy) – if there is irritability,
screaming, self-abusive behavior, coughing/choking/gagging while eating,
vomiting, discharge on pillow in the am, excessive swallowing or drooling,
refusal to eat, weight loss.

Gallbladder (Ultrasound, CCK with contrast) — if there is unexplained gut
pain, moaning, especially after eating

Swallowing study– if aspiration or reflux are suspected, when there are
repeated pulmonary infections, choking/coughing/gagging while eating

Upper GI series — to rule outreflux and delayed gastric emptying

Gyn Exam and abdominal Ultra Sound for ovarian issues after puberty.

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