Surveillance and management recommendations for adult patients with RTT
| Organ system or specialty area | Recommendation |
| Genetics | Offer genetic testing and family counselling, if not done previously. |
| Brain | Assess neurological features at each clinical visit at least annually. Sudden changes in behaviour should prompt medical/clinical evaluation to investigate potential medical causes. Be aware of the high prevalence of non-epileptic manifestations (eg, dystonia, stiffness, behavioural changes that could be associated with abdominal pain). Ascertain the presence of sleep disorders with the caregivers and plan additional exams when needed (eg, polysomnography). |
| Routine EEG should be performed in individuals with known or suspected seizure activity. The frequency of routine EEG should be determined by clinical need rather than a specific defined interval. Prolonged video EEG, 24 hours or longer, is appropriate when seizure occurrence is unclear or when unexplained sleep or behavioural changes, or other alterations in neurological function are present. | |
| Bone | Monitor bone mineral density every 1–2 years. |
| Perform X-ray of the spine and hips to monitor scoliosis progression and investigate potential hip dislocation, based on clinical evaluation. | |
| Gastrointestinal (GI) | Offer clinical evaluation for GI and nutritional problems annually. |
| Perform 24 hours diet recall if nutritional indexes are abnormal. | |
| Request abdominal ultrasound based on clinical judgement (eg, persistent pain). | |
| Teeth | Perform a detailed clinical dental exam at least every 6–12 months. |
| Heart | Obtain ECG every year in asymptomatic patients of all ages to monitor for conduction defects. More frequent or advanced diagnostic assessment may be required for symptomatic patients or patients with QT prolongation (>450 ms) or cardiac arrhythmias. |
| General assessment | Perform annually: complete blood count, CRP, electrolytes, albumin and pre-albumin, 25-hydroxy-vitamin D and parathyroid hormone levels, folic acid, vitamin B12, total proteins and protein electrophoresis, ferritin, transferrin, serum iron, kidney, liver, thyroid function and other hormonal assessment, antiepileptic drug serum levels (if the patient is treated for epilepsy). |
| Gynaecology | Perform a gynaecology visit every 1–2 years. At least one pelvic ultrasound after puberty is recommended.* |
| Consider performing pelvic ultrasound annually to look for ovarian cysts when the patient is taking valproic acid. | |
| Request specialty evaluation if menstruation irregularities or dysmenorrhoea are reported. |
*According to the guidelines of the Italian Ministry of Health.
CRP, C-reactive protein; EEG, electroencephalograph; RTT, Rett syndrome.