Introduction. Angelman 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. Aim. The 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 methods. We 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. Results. Thirty 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. Conclusions. Studies 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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Univ Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Manssen, Lena
Krey, Ilona
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Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Krey, Ilona
Gburek-Augustat, Janina
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Univ Leipzig, Hosp Children & Adolescents, Dept Women & Child Hlth, Div Neuropediat, Leipzig, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Gburek-Augustat, Janina
von Hagen, Cornelia
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Univ Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Kinderzentrum Munchen Gemeinnutzige GmbH, Munich, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
von Hagen, Cornelia
Lemke, Johannes R.
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Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany
Univ Leipzig, Med Ctr, Ctr Rare Dis, Leipzig, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Lemke, Johannes R.
Merkenschlager, Andreas
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Univ Leipzig, Hosp Children & Adolescents, Dept Women & Child Hlth, Div Neuropediat, Leipzig, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Merkenschlager, Andreas
Weigand, Heike
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机构:Univ Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
Weigand, Heike
Makowski, Christine
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Univ Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, GermanyUniv Hosp, Ludwig Maximilian Univ Munich, Dr Hauner Childrens Hosp, Dept Pediat,Div Pediat Neurol,Dev Med & Social Ped, Munich, Germany
机构:Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA
Thibert, Ronald L.
Larson, Anna M.
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机构:Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA
Larson, Anna M.
Hsieh, David T.
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机构:Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA
Hsieh, David T.
Raby, Annabel R.
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机构:Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA
Raby, Annabel R.
Thiele, Elizabeth A.
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Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USAMassachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA