ArticleRevista de neurologia2023
[Angelman syndrome in adulthood].
Article in Revista de neurologia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors at 1 institution in 1 country.
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Abstract
introductionAngelman syndrome (AS) is widely described in childhood, but few studies have been conducted in adulthood and most of them report a small number of patients or specific conditions, such as epilepsy or sleep.
aimThe aim of this study is to describe AS in adulthood in our centre, the special needs it requires, and the medical and social support to improve care and to provide a better transition from the paediatric service to units for adults. PATIENTS AND
methodsWe collected patients with genetically confirmed AS, and described demographic, medical and social data by reviewing medical records, telephone interviews with the primary caregiver and three standardised sleep, dependency and quality of life scales.
resultsThirty patients with a median age of 22.7 years were included: 22 were deletions, 27 had a history of epilepsy and 13 were on treatment involving at least two antiepileptic drugs. The most frequent comorbidities after epilepsy were psychiatric symptoms, scoliosis, overweight, constipation and ophthalmological problems. Forty per cent required hospital admissions in adulthood, five were institutionalised and 24 received non-medical therapies. The doctor in charge was the neurologist in most cases, followed by the neuropaediatrician.
conclusionsStudies that examine the natural history beyond childhood are warranted. This is the first Spanish review of adults with AS that covers a broad spectrum of social and medical conditions of these patients.
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