Results 81 to 90 of about 1,142,913 (203)

Perception of four intellectual and developmental disabilities based on search engine and news portrayal.

PLoS ONE
BackgroundFor people with intellectual and developmental disabilities, other's perceptions of them based on their condition often begin before birth and go on to impact relationships, opportunities, and self perception across the life course.
Lillian J Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein   +4 more
doaj   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Vigabatrin-Induced Seizures in Angelman Syndrome

Pediatric Neurology Briefs, 1998
Four children with Angelman syndrome (AS) showed worsening of seizures after introduction of vigabatrin (VGB), at the University Children’s Hospital, Zurich, Switzerland.
J Gordon Millichap
doaj   +1 more source

Performance and Biases of the LENA and ACLEW Algorithms in Analyzing Language Environments in Down, Fragile X, Angelman Syndromes, and Populations at Elevated Likelihood for Autism

Developmental Science, Volume 29, Issue 5, September 2026.
ABSTRACT Wearable recorders are used in research and clinical practice to collect and measure children's vocalizations and the language environment in which they occur. Recordings generate vast amounts of audio, making manual analysis impractical and requiring automated processing.
Marvin Lavechin, Lisa R. Hamrick, Bridgette Kelleher, Amanda Seidl   +3 more
wiley   +1 more source

Sudden death and Angelman Syndrome

, 2012
Angelman syndrome is a condition characterized by developmental delay due to abnormalities in the maternally derived chromosome 15q11-q13. Typical features include impaired expressive language, an ataxic gait, and seizures.
Byard, R., Herbst, J.
core   +1 more source

ANGELMAN SYNDROME: THE CLINICAL CASE OF COMPLEX CHROMOSOMAL ABERRATION IN A CHILD WITH A RETARDATION OF PSYCHOPHYSICAL DEVELOPMENT

Психіатрія, неврологія та медична психологія, 2018
In the structure of the genetic causes of Angelman syndrome, homogeneous disomy of paternal origin on chromosome 15 with translocation is about 1%. It is accompanied by unexpressed phenotypic manifestations, with a low incidence of convulsive paroxysms ...
I. V. Lastivka, V. V. Antsupova, H. O. Suvorova-Grigorovich, O. V. Grishnjaeva, I. R. Tymofiychuk   +4 more
doaj   +1 more source

Синдром Ангельмана. Часть 1 (этиология и патогенез)

Zdorovʹe Rebenka, 2015
В статье приведены современные представления о механизмах генетических изменений при синдроме Ангельмана. Статья содержит данные о частоте встречаемости и риске наследования различных генетических дефектов у больных с синдромом Ангельмана.
A.Ye. Abaturov, L.L. Petrenko, Ye.L. Krivusha   +2 more
doaj   +1 more source

Bone Mineral Density in Angelman Syndrome

, 2007
Our aim was to evaluate bone mineral densitometry in patients with Angelman syndrome with or without antiepileptic therapy. Eighteen patients (9 females, 9 males), aged 4.0-24.3 years (mean age, 10.1 years), and two control groups consisting of 18 ...
Verrotti, Alberto, Mainolfi, Ciro, G. Auricchio, A. Pascotto, G. Coppola, Fortunato, Delia, D. Fortunato, Auricchio, Gianfranca, Operto, Francesca Felicia, Coppola, Giangennaro, C. Mainolfi, VERROTTI DI PIANELLA, Alberto, Pascotto, Antonio, F. F. Operto   +13 more
core   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Leonard, Helen, Zappella, M., Angus J. Clarke, Bailey, Mark E. S., Daniel G. Glaze, Clarke, A.J., Zappella, Michele, Kaufmann, Walter E., Neul, J.L., null Jeffrey L. Neul, John Christodoulou, N. Carolyn Schanen, Christodoulou, John, Percy, Alan K., Leonard, H., Michele Zappella, Walter E. Kaufmann, Mark E. S. Bailey, Neul, Jeffrey L., Kaufmann, W.E., RENIERI, ALESSANDRA, Schanen, N. Carolyn, Glaze, Daniel G., Bailey, M.E., Clarke, Angus John, Helen Leonard, Bailey, M.E.S., Bahi Buisson, N., Christodoulou, J., Peter Huppke, Percy, A.K., Bahi-Buisson, N., null null, RettSearch Consortium, MARI, FRANCESCA, Renieri, A., Alessandra Renieri, Nadia Bahi-Buisson, Bahi-Buisson, Nadia, Alan K. Percy, Huppke, Peter, Clarke, Angus J., Glaze, D.G., Schanen, N.C., Huppke, P.   +44 more
core   +1 more source

Effect of epilepsy on autism symptoms in Angelman syndrome

, 2018
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate.
Kanavin, Oivind J, Bakke, Kristin A, Heiberg, Arvid, Naerland, Terje, Howlin, Patricia, Retterstol, Lars   +5 more
core   +1 more source