Results 101 to 110 of about 1,536,733 (206)
A comparative investigation of longevity and morbidity in Angelman syndrome and Prader-Willi syndrome [PDF]
, 2005 The present study examined the life histories of individuals In Western Australia with a diagnosis of Angelman or Prader-Willi syndrome. Angelman and Prader_Willi syndrome, are phenoypically diverse disorders both of which result from the failure of ...
Thomson, Allyson K.
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Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1601-1609, November 2026.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Demographic and clinical/radiological profiles of children with Angelman syndrome and controls.
, 2016 Demographic and clinical/radiological profiles of children with Angelman syndrome and controls.
Lara De Martin (3119724) +12 more
core +1 more source
Angelman\u27s Syndrome Case Study and Appropriate Educational Curriculum [PDF]
, 1988 The purpose of this professional paper is to provide Special Educators with information on a presumably rare type of Mental and Physical Retardation that has been diagnosed as Angelman\u27s Syndrome.
Hatt, Allyson Lesly
core +1 more source
Autism in Angelman syndrome: a population-based study
, 1996 The aim of this study was to examine the prevalence of angelman syndrome in prepubertal school-aged children and analyze its comorbidity with autistic disorder.
Steffenburg, Ulf, +3 more
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Acta Médica Costarricense, 2004 Justificación y objetivo: El síndrome de Angelman, es un severo desorden neurológico. No existe ningún caso previamente reportado en el país. Método: Reportamos 2 niñas con sospecha clínica de padecer de síndrome de Angelman.
Marvin Midence Cerda, Roberto Brian Gago
doaj
Frontiers in NeurologyImportanceMultidisciplinary clinics (MDCs) improve care for patients with complex, comorbid conditions through coordinated, team-based care. Despite their potential, MDCs remain underutilized and understudied in pediatric neurology, particularly for ...
Carole Bakhos +12 more
doaj +1 more source
Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome
, 2004 Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome: We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine ...
Caksen, H +6 more
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Exploring an objective measure of overactivity in children with rare genetic syndromes
Journal of Neurodevelopmental DisordersBackground Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques ...
Rory O’Sullivan +10 more
doaj +1 more source
A literature review on Angelman syndrome: etiopathogenesis, clinical features, diagnosis and treatment. [PDF]
Background. Angelman syndrome is a neurological developmental disorder that causes severe functional and behavioral impairments. The prevalence of the disease worldwide ranges from approximately 1 in 12 000 to 1 in 20 000 individuals.
Jemeljanovaitė, Guoda,
core +1 more source