Facts About Angelman Syndrome
نویسندگان
چکیده
Facts about AS was initially a small booklet developed in 1987 to help launch the Angelman Syndrome Foundation organization and to help inform parents and professionals about the syndrome. The Facts document is now in its seventh edition. Over the years, it has grown in scope and complexity and this year the " pamphlet/brochure" has been reformatted for a web presence. Current authors are:
منابع مشابه
Parental view of epilepsy in Angelman syndrome: a questionnaire study.
PURPOSE To explore parents' opinions and concerns about seizures, anticonvulsants, and the effect of treatment in children with Angelman syndrome. DESIGN A postal questionnaire was sent to members of one of the UK lay groups for Angelman syndrome (ASSERT) who had a child affected by Angelman syndrome. The questionnaire requested general medical information and information about the epilepsy, ...
متن کاملAngelman syndrome: mimicking conditions and phenotypes.
The diagnosis of Angelman syndrome (AS) can be confirmed by genetic laboratory in about 80% of cases. In 20%, the diagnosis remains clinical, but often there is uncertainty about the correctness of the clinical diagnosis and alternative diagnoses may be investigated. In evaluating individuals for AS in our center since 1989, we have encountered several mimicking conditions, and additional ones ...
متن کاملPsychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome.
The aim of the present study was to identify the psychosocial problems of parents of a child with Prader-Willi syndrome or a child with Angelman syndrome. In addition, the strategies these parents apply to cope with these problems as well as their need for information are described. To assess these topics, parents filled in a self-report questionnaire. Both parent groups were found to have a hi...
متن کاملA case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes
Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report o...
متن کاملAngelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report
INTRODUCTION Angelman syndrome, a neurodevelopmental genetic disorder associated with abnormalities in chromosome15q11-q13, is inherited from the mother. Epilepsy is seen in 85 % of children with Angelman syndrome within the first 3 years of life and is often severe and difficult to control. CASE PRESENTATION We report a case of a baby boy who presented at 13 months of age with a history of a...
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تاریخ انتشار 2010