Results 21 to 30 of about 3,893,039 (274)
Dental Considerations and Treatment Approaches in West Syndrome—Infantile Spasms: A Case Report [PDF]
Journal of South Asian Association of Pediatric Dentistry, 2023 Introduction: West syndrome (WS) comprises a classic triad of infantile spasms (ISs), hypsarrhythmia, and psychomotor delay. It is considered a rare epileptic encephalopathy typical to manifest in infancy or early childhood.
Amit Khatri +6 more
doaj +1 more source
West Syndrome and associated Autism Spectrum Disorder: Proposal for a neuropsychological assessment and intervention protocol [PDF]
Papeles del Psicólogo, 2022 Patients with West Syndrome and associated Autism Spectrum Disorder (ASD) have cognitive deficits (i.e., attentional, mnestic, visuoperceptive, executive function, and language impairments) that may affect their quality of life.
Christian López-Cruz +3 more
doaj +1 more source
Frontiers in Genetics, 2023 Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS,
Chloe Angwin +5 more
doaj +1 more source
Frontiers in Genetics, 2023 Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin ...
Chloe Angwin +5 more
doaj +1 more source
Frontiers in Pediatrics, 2022 We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus ...
Faliang Zhou +4 more
doaj +1 more source
West syndrome in patients with Kabuki syndrome (literature review and case report)
Русский журнал детской неврологии, 2022 Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability.Objective: to study the characteristic features of KS comorbid with West ...
M. L. Zhitomirskaya +2 more
doaj +1 more source
Journal of Contemporary Medicine, 2023 Background: We aimed to investigate the short-term effects of adrenocorticotropic hormone (ACTH) treatment on the adrenal pathway and bone metabolism in patients with epileptic encephalopathy.
Bülent Kara +5 more
doaj +1 more source
Malang Neurology Journal, 2022 Background: Kabuki syndrome is a rare disease. In 2018, a global consensus on diagnostic criteria for Kabuki syndrome (KS) was published, diagnosing KS both with and without molecular genetic confirmation.
Marina Zhitomirskaya +3 more
doaj +1 more source
Definitions, 2020 West syndrome (WS) or infantile spasm is considered rare, with an estimated incidence of 3 to 4/100,000. It is an epilepsy of infancy, with symptoms beginning between 4 and 6 months of age, but which are quite discreet.
semanticscholar +1 more source
West Syndrome: Response to Valproate [PDF]
Frontiers in Neurology, 2012 Management of West syndrome is unsatisfactory. In our clinic we observed that a significant proportion of patients respond to usual dose of valproate.To prospectively assess the efficacy of valproate in controlling infantile spasms in West syndrome.Consecutive patients presenting with West syndrome to the Pediatric Neurology Clinic or general ...
Roli Bhargava +4 more
openaire +4 more sources