Results 71 to 80 of about 9,448 (189)

Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison [PDF]

, 2022
Kyra Lubbers, Eefje M. Stijl, Bram Dierckx, Doesjka A. Hagenaar, Leontine W. ten Hoopen, Jeroen S. Legerstee, Pieter F. A. de Nijs, André B. Rietman, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +11 more
openalex   +1 more source

The Effect of Oromotor and Sensory Treatment on Persistent Thumb Sucking and Basic Feeding and Swallowing in a Toddler with Angelman Syndrome: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
A toddler with Angelman syndrome was the subject of the study to find out the effect of oromotor and sensory therapy on fundamental eating and swallowing as well as prolonged thumb sucking.
Neelam Tejani, Seema Saini, Tushar Palekar   +2 more
doaj   +1 more source

Abstract 2122: Developing an Angelman syndrome model in Drosophila melanogaster using tissue-specific CRISPR to knockout Dube3a

, 2023
Katie Cruse, Benjamin Geier, Walter Krueger, Lawrence T. Reiter   +3 more
openalex   +1 more source

Angelman Syndrome and Epilepsy

Pediatric Neurology Briefs, 1993
Characteristic epileptic seizures and EEG abnormalities are reported in three siblings with Angelman syndrome from the Kansai University Otokoyoma Hospital, Kyoto; and the Nagasaki University School of Medicine, Japan.
J Gordon Millichap
doaj   +1 more source

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Angelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile.
Robert P. Carson, Lynne Bird, Anna K. Childers, Ferrin Wheeler, Jessica Duis   +4 more
doaj   +1 more source

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research

Frontiers in Neurology
ImportanceMultidisciplinary 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, Christal G. Delagrammatikas, Scott Demarest, Yssa DeWoody, Tuesdi Dyer, Ilene Penn Miller, Amanda Moore, Ashley Fortney Point, Charlene Son Rigby, Charlene Son Rigby, Jackie Steinberg, Vanessa Vogel-Farley, Kimberly Wiltrout   +12 more
doaj   +1 more source

P27-028-23 Ingestive Behaviors, Diet Quality, and Gut Microbiota in Children With Angelman Syndrome (AS)

, 2023
Anita A. Panjwani, Bridgette Kelleher, Regan L Bailey, Stephen R. Lindemann   +3 more
openalex   +1 more source

Visual evoked potential evidence of albino‐like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism [PDF]

, 1999
Dorothy Thompson, A Kriss, S Cottrell, David Taylor   +3 more
openalex   +1 more source

Características clínicas de dos probables casos de síndrome de Angelman en el Hospital Nacional de Niños

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  

Exploring an objective measure of overactivity in children with rare genetic syndromes

Journal of Neurodevelopmental Disorders
Background 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, Stacey Bissell, Georgie Agar, Jayne Spiller, Andrew Surtees, Mary Heald, Emma Clarkson, Aamina Khan, Christopher Oliver, Andrew P. Bagshaw, Caroline Richards   +10 more
doaj   +1 more source