Proposta de atuação fisioterapêutica em uma criança com síndrome de Angelman, enfatizando o equilíbrio postural: estudo de caso

Visicato, Lívia Pessarelli; Costa, Carolina Souza Neves da; Taube, Oswaldo Luiz Stamato; Campos, Ana Carolina de

doi:10.1590/s1809-29502013000100012

Cited by 2 publications

(1 citation statement)

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“…Therapies based on improving the coordination of movements and re ex reactions using the Vojta and NDT-Bobath methods improve the central coordination disorder, which occurs as a symptom of AS and are also enhancing gross motor performance 45,46 . Also a number of methods based on the stimulation of equivalent static and dynamic reactions, which, in addition to improving motor functions, including walking, reduce the number of falls 47 .…”

Section: Rehabilitationmentioning

confidence: 99%

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

Agata,

Katarzyna,

Łukasz

et al. 2024

Preprint

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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.

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Section: Rehabilitationmentioning

confidence: 99%