Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto.
نویسندگان
چکیده
منابع مشابه
Angelman 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...
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 کاملAngelman (happy puppet) syndrome in a girl and her brother.
We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases. This report, together with a review of published reports and contact with previous authors, has revealed a total of 41 sibs of probands, although only nine of these are known to have been later born. The possible effect of voluntary restriction of family size after ...
متن کاملchildren satisfaction of nursing care by drawing
Background & Objective: Patient satisfaction is the main indicator of the quality of healthcare systems. Usually in pediatric works parents are questioned due to lack of appropriate scale. Therefore, this study was done to assess the children’s satisfaction themselves by drawing which is an applicable scale for them.Patients & methods: This study was done with 20 hospitalized children aged 6-12...
متن کاملThe Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiquitin ligase Ube3A, a gene whose mutation has also recently been associated with autism spectrum disorders (ASDs). The function of Ube3A during nervous system development and how Ube3A mutations give rise to cognitive impairment in individuals with Angleman Syndrome and ASDs are not clear. We report here ...
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عنوان ژورنال:
- JAMA pediatrics
دوره 170 9 شماره
صفحات -
تاریخ انتشار 2016