Autism in Angelman syndrome: implications for autism research

Peters, SU; Beaudet, A. L.; Madduri, Niru; Bacino, CA

doi:10.1111/j.1399-0004.2004.00362.x

Cited by 175 publications

(129 citation statements)

References 46 publications

Supporting

Mentioning

124

Contrasting

Unclassified

Order By: Relevance

“…26 A recent study found that, among children with Angelman syndrome, those with comorbid autism scored lower on measures of language, adaptive behaviour, and cognition and demonstrated a slower rate of improvement over the course of the study. 27 Furthermore, deficits have been demonstrated in communication and socialization that mirror those observed in children with idiopathic autism.…”

Section: Prader-willi and Angelman Syndromesmentioning

confidence: 99%

Genetic causes of syndromic and non‐syndromic autism

Çağlayan

2010

Develop Med Child Neuro

104

View full text Add to dashboard Cite

Aims Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single‐base mutations implicated in the causation of autism. Method In this study the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Results Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. Interpretation Comprehensive research into the molecular mechanism of autism is required to aid the development of disease‐specific targeted therapies. In order to transfer this recently acquired knowledge into clinical practice, it is critical to define a set of phenotypic inclusion criteria that must be met by affected probands to justify their enrolment in a specific genetic testing programme.

show abstract

Section: Prader-willi and Angelman Syndromesmentioning

confidence: 99%

Genetic causes of syndromic and non‐syndromic autism

Çağlayan

2010

Develop Med Child Neuro

104

View full text Add to dashboard Cite

show abstract

“…Patients with AS also often exhibit seizures, microcephaly, and autistic features (Peters et al, 2004). Partial seizures are the most frequent seizure type observed in patients with AS, followed by atonic seizures and atypical absences.…”

Section: Introductionmentioning

confidence: 99%

Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype

Wang

Hou

2016

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for the identification of mutations in UBE3A in 10% of patients with AS. The aim of this study was to validate the clinical features and genetic polymorphisms of AS, and to discuss the relationship between functional language lateralization and the arcuate fasciculus in the Broca's and Wernicke's areas. Six children with AS (mean age = 32.57 months) presenting characteristic behavioral patterns of AS (frequent laughter and happy demeanor, hand flapping, and hypermotor behavior) were recruited to this study. The patients underwent a clinical evaluation (clinical history, dysmorphological and neurological examinations, and psychological evaluations) and paraclinical investigations [genetic tests (fluorescence in situ hybridization and methylation polymerase chain We conclude that AS diagnosis cannot rely solely on genetic testing for polymorphisms in UBE3A and must consider its clinical characteristics. Moreover, functional language lateralization and the arcuate fasciculus in the Broca's and Wernicke's areas were found to be closely correlated. Therefore, UBE3A gene mutation analysis combined with comprehensive clinical evaluations may be suitable for the diagnosis of AS.

show abstract

“…Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, profound language impairment, seizures, and a propensity for a happy disposition (1)(2)(3). AS results from loss of function of the maternally inherited UBE3A allele at the 15q11-q13 locus (4)(5)(6)(7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome

Riday¹,

Dankoski²,

Krouse³

et al. 2012

J. Clin. Invest.

View full text Add to dashboard Cite

Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deletions or mutations of the ubiquitin ligase E3A (UBE3A) allele and characterized by minimal verbal communication, seizures, and disorders of voluntary movement. Previous studies have suggested that abnormal dopamine neurotransmission may underlie some of these deficits, but no effective treatment currently exists for the core features of AS. A clinical trial of levodopa (l-DOPA) in AS is ongoing, although the underlying rationale for this treatment strategy has not yet been thoroughly examined in preclinical models. We found that AS model mice lacking maternal Ube3a (Ube3a m-/p+ mice) exhibit behavioral deficits that correlated with abnormal dopamine signaling. These deficits were not due to loss of dopaminergic neurons or impaired dopamine synthesis. Unexpectedly, Ube3a m-/p+ mice exhibited increased dopamine release in the mesolimbic pathway while also exhibiting a decrease in dopamine release in the nigrostriatal pathway, as measured with fast-scan cyclic voltammetry. These findings demonstrate the complex effects of UBE3A loss on dopamine signaling in subcortical motor pathways that may inform ongoing clinical trials of l-DOPA therapy in patients with AS.

show abstract

Autism in Angelman syndrome: implications for autism research

Cited by 175 publications

References 46 publications

Genetic causes of syndromic and non‐syndromic autism

Genetic causes of syndromic and non‐syndromic autism

Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype

Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome

Contact Info

Product

Resources

About