Results 21 to 30 of about 7,694 (137)

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

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +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

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +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