P192 – 2531: Overview of Rett syndrome associated with MECP2 mutation: Analysis of 7 patients

Abstract

Objective The aim of the present study was to report our experience with Rett syndrome (RTT) associated with MECP2 mutation. Methods Seven consecutive patients diagnosed with RTT associated with MECP2 mutation in our child neurology clinic were analyzed in terms of clinical findings retrospectively. Diagnosis were compared according to revised diagnostic criteria (2010) for RTT. Results There were 7 girls, age range, 2.3 to 10.2 years. Age at the time of diagnosis were 2 to 5 years. Although 2 of the child had history of preterm birth. All of the patient had normal psychomotor development in first six months of life. Therefore none of the patient had any exclusion criteria. All of the patients had neuromotor regression period. However only 3 of patients followed by recovery or stabilization. All of the patients had complete loss of acquired purposeful hand skills, stereotypic hand movements and partial or complete loss of acquired spoken language. One of the patients had never experienced independent walking. Independent walking had been possible in three patients. Developmental regression was seen in all the patients, and the average onset of age was 19 months. Although all of patients had epileptic abnormality on EEG, only 2 patients manifested with epilepsy that required antiepileptic medication. When we examine patients for supportive criteria; we observed breathing disturbances when awake in 3, bruxism in 4, impaired sleep pattern in 2, peripheral vasomotor disturbances in 4, scoliosis in 3, growth retardation 6, small cold hands and feet in 7, inappropriate laughing/screaming spells in 5, diminished response to pain in 7, intense eye communication in 2 cases. All of the patients diagnosed as typical RTT according to 2010 revised diagnostic criteria. Conclusion This study supported that revised diagnostic criteria (2010) for RTT is a useful tool for clinicians for diagnosis of RTT.