ArticleJournal of autism and developmental disorders2003
Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.
Article in Journal of autism and developmental disorders, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 29 citations in OpenAlex.
- Typical and atypical neural mechanisms support spoken word processing in Angelman syndrome.Brain and language · 2023Article
- Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray.Frontiers in genetics · 2021Article
- Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names.Journal of intellectual disability research : JIDR · 2019Article
- Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome.Brain and cognition · 2018Article
- Article
- Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.Molecular cytogenetics · 2016Article
- Behavior and neuropsychiatric manifestations in Angelman syndrome.Neuropsychiatric disease and treatment · 2008Article
- Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.Neurogenetics · 2007Article
- Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome.Journal of autism and developmental disorders · 2007Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The case of a 15-year-old male with Angelman syndrome, paternal uniparental disomy of chromosome 15, and a small supernumerary marker chromosome is discussed. Assessment of cognitive functioning revealed an uneven profile of ability across different domains; in particular, receptive language ability was found to be superior to expressive language ability, whilst both gross and fine motor skills were found to be relatively well developed. Assessment using the Autism Diagnostic Observation Schedule showed very little evidence of autistic symptomatology. The patient showed an interest in social interaction and used a variety of methods to communicate, including some gestures and several single words. A clinical history revealed febrile convulsions during childhood but an absence of seizures in the previous 5 years. The patient was not hypopigmented, and height, weight, and head circumference were within the normal range for his age. The implications of these features are discussed in the context of previous work describing a milder phenotype in nondeletion cases of Angelman syndrome and work that has examined the prevalence of autism spectrum disorders amongst individuals with Angelman syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.