Results 81 to 90 of about 1,536,733 (206)
ABSTRACT Background Young people with intellectual disability often have complex healthcare needs. Parent/caregivers can enhance their child's involvement in healthcare decision‐making to improve treatment adherence and health outcomes. Healthcare decision‐making is embedded within health literacy skillsets, and for people with intellectual disability ...
Jessica Keeley +9 more
wiley +1 more source
EEG Patterns and Genotypes in Angelman Syndrome
Researchers at the Children’s Hospital, Boston, other centers in the US, and Poznan University, Poland, prospectively analyzed EEGs from participants in the NIH Angelman Syndrome Natural History ...
J Gordon Millichap, Millichap, J. Gordon
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ABSTRACT Background Williams syndrome (WS) is a genetic condition associated with neurodevelopmental disorders including intellectual disability and executive functioning (EF) deficits. Although neuroimaging methods may clarify the neural basis of these impairments, participant burden and frequent exclusion of individuals with lower cognitive abilities
Emma E. Condy +5 more
wiley +1 more source
Angelman Syndrome without Chromosome Anomaly
The clinical manifestations of Angelman syndrome (AS) in 12 patients without a cytogenetic or molecular defect and 28 with a deletion were compared at the Department of Neurology, Leiden University Medical Center, and other hospitals in the ...
J Gordon Millichap, Millichap, J. Gordon
core +1 more source
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 +4 more
doaj +1 more source
ABSTRACT Background Individuals with severe to profound intellectual disability (ID) exhibit high support needs and significant communication impairments and may present with challenging behaviours such as aggression, self‐injury and stereotypies. These behaviours can cause distress, hinder healthcare access and delivery and impair quality of life for ...
I. D. C. van Balkom +5 more
wiley +1 more source
Angelman Syndrome and Epilepsy
Twenty-six patients with Angelman syndrome (AS), of which 19 had 15ql 1-13 maternal deletion, were studied and followed at the University of San Paulo, Brazil, with particular reference to the prevalence and type of epilepsy and its response to ...
J Gordon Millichap
core +1 more source
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Preview. Angelman syndrome: finding the lost arc
Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al.
Schuman, E., Tai, H.
core +1 more source
Anterior Drooling Versus Posterior Drooling: A Comparative Analysis
ABSTRACT Aims To examine the patient population of a tertiary Interdisciplinary Saliva Control Clinic, describe management pathways and identify patients suitable for primary care. Methods Retrospective single‐centre cohort study in a tertiary hospital reviewing patients referred to the Saliva Control Clinic over a 5‐year period.
Kaitlin Duell +4 more
wiley +1 more source

