[P3-194] Clinical Characteristics in Aged Patients with Rett Syndrome
[Introduction] The clinical features have not been investigated fully in aged patients with Rett syndrome (RTT), although it is speculated that the life prognosis is not so poor in RTT. We aimed to identify clinical characteristics in aged RTT patients, receiving long-term follow-up in our center. [Methods] We retrospectively analyzed medical records in six patients with RTT, aged over 50, and having mutations in the gene of methyl-CpG-binding protein 2. [Results] Five of six patients developed microcephaly. Regarding motor abilities, four patients became to walk independently by the age of 3 years, whereas the other two patients only acquired pulling themselves up or support walking around the age of 2 years. Subsequently, six patients became bedridden in their 30-40s. Hand stereotypies showed a reduction of frequency with age, and the pattern of stereotypic movements became simplified. All patients had epilepsy, and the first seizure occurred between the ages of 2 and 6 years. Remission of seizures was achieved with treatments of 1-4 antiepileptic drugs in five of six patients. Seizure frequency was decreased in their 20-30s. Respiratory abnormalities were seen in three of six patients, being less predominant with age, although four patients developed obstructive sleep apnea. Dysphagia was noticed in six patients, and severity of dysphagia was in relation to respiratory abnormalities, frequent seizure, and early loss of motor functions. [Conclusions] Several characteristic features were recognized in our aged patients with RTT, indicating the necessity of nationwide and/or global survey in a large number of patients.