Results 31 to 40 of about 7,721 (150)

Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment)

Zdorovʹe Rebenka, 2015
The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS). It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the ...
O.Ye. Abaturov, L.L. Petrenko, O.L. Kryvusha   +2 more
doaj   +1 more source

Life stories of families with sons and daughters with Angelman syndrome

Siglo Cero, 2020
The Angelman syndrome is a rare neurodevelopmental disorder caused by a gene called UBE3A that is on chromosome 15. This syndrome comes with diverse difficulties that families have to face.
Amaia GOITIA AÑORGA, Leire DARRETXE URRITXI, Naiara BERASATEGI SANCHO   +2 more
doaj   +1 more source

Burden and Parental Satisfaction in Informal Caregivers of People with Angelman Syndrome: A Mix-method Study

Mediterranean Journal of Clinical Psychology, 2022
Background: Studies focusing on the burden of parents informally caring for offspring with chronic illnesses such as Angelman Syndrome are rare, despite the challenging task of parenting a person with such a disabling illness.
Teresa Ferreira, Rute Brites, Tânia Brandão, Odete Nunes, João Hipólito   +4 more
doaj   +1 more source

Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

Arquivos de Neuro-Psiquiatria, 1997
Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de ...
Cintia Fridman, Fernando Kok, Aron Diament, Célia P. Koiffmann   +3 more
doaj   +1 more source

Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial

Trials, 2020
Background Ketogenic and low-glycemic-index diets are effective in treating drug-resistant seizures in children with Angelman syndrome. Cognition, mobility, sleep, and gastrointestinal health are intrinsically linked to seizure activity and overall ...
Donna L. Herber, Edwin J. Weeber, Dominic P. D’Agostino, Jessica Duis   +3 more
doaj   +1 more source

Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A).
Agata Suleja, Katarzyna Milska-Musa, Łukasz Przysło, Marzena Bednarczyk, Marcin Kostecki, Dominik Cysewski, Paweł Matryba, Anna Rozensztrauch, Michał Dwornik, Marcin Opacki, Robert Śmigiel, Kacper Łukasiewicz   +11 more
doaj   +1 more source

Differential diagnosis of Rett and Angelman syndromes: final diagnosis of a case using genetic analysis

Psychiatry and Clinical Psychopharmacology, 2021
The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay, Davut Gül, Teoman Söhmen   +2 more
doaj  

Craniofacial disorders in the course of Angelman syndrome - a review of the literature

Journal of Education, Health and Sport, 2020
Angelman syndrome is a neurogenetic disorder with an estimated prevalence of 1 in 10.000 to 1 in 40.000 cases. Clinical presentation is based on characteristic neurobehavioral and emotional disorders, a function of the nervous and pulmonary system as ...
Katarzyna Brukiewicz, Oskar Komisarek
doaj   +1 more source

Epilepsy in Angelman’s Syndrome

Pediatric Neurology Briefs, 2009
The natural history and response to treatment of epilepsy in a large population of Angelman syndrome (AS) patients were studied by detailed electronic survey conducted through the AS Foundation by pediatric neurologists at Massachusetts General Hospital, Boston; Texas Southwestern Medical Center; and Rady Childrens Hospital, San Diego, CA.
openaire   +4 more sources

Angelman Syndrome

, 2023
Angelman syndrome (AS) is a rare disorder characterized by ataxia, ambulation difficulties, muteness, excessive laughter and seizures. Most children diagnosed with (AS) have an abnormal head computed tomography scan, an abnormal electroencephalogram, and an abnormal pneumoencephalogram.
Rohini Motwani, Hare Krishna
openaire   +3 more sources