Results 1 to 10 of about 1,334 (111)
Neuromuscular Disorders, 2017 Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy.
Juliette Nectoux +2 more
exaly +5 more sources
Cortical Hypometabolism in West Syndrome
Pediatric Neurology Briefs, 1997 Serial PET scans and MRIs were performed in 18 infants with West syndrome (WS) to determine the relation between cortical hypometabolism and delayed myelination in a study at Nagoya University School of Medicine, Japan.
J Gordon Millichap
doaj +7 more sources
Prenatal Etiologies of West Syndrome
Pediatric Neurology Briefs, 1993 The etiology of West syndrome (WS) with special reference to prenatal factors was investigated in 180 patients admitted between 1969 and 1990 to the Department of Child Neurology, Okayama University Medical School, Japan.
J Gordon Millichap
doaj +3 more sources
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
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
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 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
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
Çocuk Dergisi, 2022 Objective: West syndrome is the most common infantile epileptic encephalopathy, and ACTH or oral corticosteroids are frequently used in its treatment. The aim of this study was to evaluate the efficacy of ACTH therapy and its effects on bone metabolism ...
Mesut Güngör +5 more
doaj +1 more source
Annals of Medical Science and Research, 2023 West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson +2 more
doaj +1 more source