What tests are used to diagnose Rett syndrome?
Usually, a doctor is able to diagnose Rett syndrome based on the symptoms a child shows during a physical exam. A blood test may be used to confirm a diagnosis by checking for a genetic mutation in the MECP2 gene on the X chromosome; if this is negative, then other related genes may be tested, especially in Rett syndrome variants like CDKL5.
However, not all patients with an abnormality on the MECP2 gene have Rett syndrome, and some individuals without this specific gene abnormality may have the condition.
Symptoms to help diagnose Rett syndrome
Your child’s doctor at Children’s Hospital Colorado will look for the following symptoms to help make a diagnosis:
- Loss of purposeful hand movements (this may include a slowing down or stopping of holding, touching and reaching for objects)
- Loss of speech
- Balance and coordination problems (including the ability to walk in many cases)
- Stereotypic hand movements (such as hand wringing, rubbing, or tapping)
- Breathing problems during the day (such as hyperventilation and breath holding)
- Anxiety and social-behavioral problems
- Intellectual and developmental disabilities
- Medically refractory epilepsy