National Based, Retrospective Study on the Evaluation of Clinical, Laboratory, and Imaging Research of Angelman Syndrome- Turkey's Multicenter Study
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with severe learning difficulties, ataxia, and dysmorphic facial features. It often has a characteristic epileptic EEG pattern. They are happy and social patients. There are often jerky movements, frequent and sometimes inappropriate laughter, water addiction, and sleep disturbance.
Patients diagnosed with Angelman syndrome between January 2010 to January 2022 through a 17 centered retrospective study in Turkey were followed up for at least 3 months. Their presenting complaints, demographic data, radiological findings, electroencephalographic records, sleep disorders, intellectual disability, recurrent infections, medical treatment options, response to treatment and follow-up time, and evaluations in terms of psychosocial support were examined.
In a total of 102 pediatric patients, the mean age at presentation was 51.2 months. 48.3% seizures, 33.3% psychomotor retardation, 6.9% typical phenotype and behavior patterns, 2.9% speech disorders, psychiatric symptoms, easy excitability, sleep problems, and atypical autism, 6.9% attention-deficit admitted with hyperactivity disorder(ADHD). While not being able to speak at all was 43%, dysfunctional speaking was 35%. Intellectual disability was 76.4%. Behavior problems were 86%; Extremely friendly, unusually happy behavior pattern %67.6, frequent and unusual laughter %55.7, clapping hands 47%, difficulty walking was 90 %. Epilepsy frequency was 85%, and 61% was generalized. EEG rhythm was: Type1 persistent rhythmic 4–6Hz activity 32.8%, Type2 rhythmic delta 2–3Hz sharp spike-wave 45.2%, and Type 3 high amplitude 3-4 Hz sharp spike wave23 %.
It is an important genetic disorder that should be considered in behavior, language, and gait disorders accompanying a happy and social personality.
Hakan Gümüş
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Turkey
Ayten Güleç
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Mehmet Canpolat
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Betül Kılıç
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Özlem Yılmaz
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Yasemin Topçu
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Seda Kanmaz
Ege University Faculty of Medicine, Department of Pediatric Neurology
Adnan Deniz
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology
Ünal Akça
Samsun Training and Research Hospital, Department of Pediatric Neurology
Gülten Öztürk
Muhammed Bahadır Samur
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Peren Perk Yücel
Trakya Medical University, Department of Pediatric Neurology
Dilara Füsun İçağasıoğlu
Bezmialem Vakıf University, Department of Pediatric Neurology
Aydan Değerliyurt
Ankara City Hospital, Department of Pediatric Neurology
Mesut Güngör
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology
Hülya İnce
VM Medical Park Samsun Hospital, Department of Pediatric Neurology
Pinar Ozkan
Karadeniz Technical University Faculty of Medicine, Department of Pediatric Neurology
Kürşad Aydın
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Sanem Yılmaz
Ege University Faculty of Medicine, Department of Pediatric Neurology
Hasan Tekgül
Selcan Öztürk
Bülent Kara
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology
Burcu Karakayalı
Marmara University Medical University, Department of Pediatric Neurology
Gülen Gül Mert
Çukurova University Faculty of Medicine, Department of Pediatric Neurology.
Nihal Olgaç Dündar Dündar
İzmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Department of Pedia
Çisil Çerci Kubur
Celal Bayar University Faculty of Medicine, Department of Pediatric Neurology
Sedef Terzioglu Öztürk
Kahramanmaraş Sütçü İmam University Faculty of Medicine, Department of Pediatric Neurology
Pinar Gençpinar
İzmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Department of Pediatric Neurology
Aslıhan Kıraz
Kayseri City Hospital, Department of Genetics
Murat Erdoğan
Kayseri City Hospital, Department of Genetics
Munis Dündar
Hüseyin Per
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Turkish Pediatric Angelman Syndrome Study Group