INTRODUCTION Angelman syndrome (AS) is a genetically-based disorder that is characterised by a physical and behavioural phenotype. Additionally, it presents a number of different systemic conditions that must also be taken into account. To evaluate the symptomatic spectrum of AS, we sought the aid of families linked to AS associations by sending them a questionnaire designed to investigate the clinical characteristics of AS.
PATIENTS AND METHODS The families were sent a questionnaire aimed at determining the medical and behavioural characteristics of AS. Results from 68 patients were analysed.
RESULTS The mean age at diagnosis was 4.8 years. The first symptoms that called parents’ attention were feeding problems, followed by gastroesophageal reflux and hypotonia. The mean age at which patients were capable of maintaining a sitting posture was 18 months, while autonomous walking was not achieved until 43 months. Epilepsy, which was present in 91% of cases, began with febrile seizures in 55% of patients. In this study we found that a high percentage of patients with AS have a high resistance to pain (67%), a very common symptom in Prader-Willi syndrome, but little known in AS.
CONCLUSIONS This study offers a wide array of information about the clinical spectrum of AS obtained from an extensive populational sample. Some highly prevalent clinical aspects, such as the relative insensitivity to pain, have not been reported in previous publications as a symptom that is typical of AS.
KeywordsAngelman syndromeBehavioural phenotypeCategoriesTécnicas exploratorias
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