Angelman syndrome in Poland: current diagnosis and therapy status – the caregiver perspective – a questionnaire study

Author:

Agata Suleja1,Katarzyna Milska-Musa2,Łukasz Przysło3,Marzena Bednarczyk1,Marcin Kostecki4,Dominik Cysewski5,Paweł Matryba6,Anna Rozensztrauch7,Michał Dwornik8,Marcin Opacki9,Robert Śmigiel7,Lukasiewicz Kacper5ORCID

Affiliation:

1. Medical University of Silesia: Slaski Uniwersytet Medyczny w Katowicach

2. Medical University of Gdansk: Gdanski Uniwersytet Medyczny

3. Polish Mother's Memorial Hospital-Research Institute: Instytut Centrum Zdrowia Matki Polki w Lodzi

4. PROT sp. z o.o.

5. Medical University of Bialystok: Uniwersytet Medyczny w Bialymstoku

6. Medical University of Warsaw: Warszawski Uniwersytet Medyczny

7. Wroclaw Medical University: Uniwersytet Medyczny im Piastow Slaskich we Wroclawiu

8. Center of Medical Rehabilitation and Osteopathy REHApunkt

9. University of Warsaw: Uniwersytet Warszawski

Abstract

Abstract

Background Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epilepsy, psychomotor disorders and speech development disorders. To date, no study has been conducted in the Polish population to verify the condition's diagnosis and treatment process. Results Seventy patients with the median age of 60 months were included into the analysis. 80% of patients were diagnosed with deletion, 19.9% with a mutation of UBE3A gene, 4.3% with paternal uniparental disomy (UPD) and 2.8% with an imprinting defect. The mean age of first symptoms was 5 months, while the mean age of diagnosis was 29 months (earliest in deletion group at 23 months), and the median duration of diagnosis process was 7 months. The average time to a clinical geneticist appointment was 3 months. 37.9% of the patients initially received a different diagnosis. Epileptic seizures were present in 88.6% of the individuals. 98.6% of the studied group were under care of a pediatric neurologist, 47.1% of a gastroenterologist. A ketogenic diet was used in 7.1% of patients. Caregivers identified finding a specialist suitable for AS patients and access to genetic testing as the biggest problems. Conclusions The care of patients with AS in Poland is carried out according to the European and world standards, however there is an impeded access to clinical geneticist, and the knowledge about rare diseases among primary healthcare physicians could be improved. Moreover, access to AS care specialists and coordination of care is limited. There is a need for creation a specialized centers and databases for AS patients.

Publisher

Springer Science and Business Media LLC

Reference60 articles.

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4. Obersztyn E. Angelman Syndrome. In: Śmigiel R, Szczałuba K, editors. Genetically Conditioned Developmental Disorders in Children. I. Warsaw: PZWL; 2021. pp. 958–76.

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