Angelman syndrome: evolution of the phenotype in adolescents and adults

Clayton‐Smith, Jill

doi:10.1111/j.1469-8749.2001.tb00746.x

Cited by 39 publications

(66 citation statements)

References 19 publications

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“…In examining these changes in ABC‐C scores with age, while rates of lethargy and stereotypy remained low over time, all participants experienced an increase in irritability and hyperactivity with advancing age. This increase in hyperactivity with age in our study is not consistent with other studies, which had found that adults had lower hyperactivity scores than adolescents (Clarke & Marston, ; Clayton‐Smith, ). However, given the relatively young ages of the participants in our cohort, our findings should be interpreted with caution for adults.…”

Section: Discussioncontrasting

confidence: 99%

“…Research on the changes in problem behaviors with age in individuals with developmental disabilities has been inconsistent, with some studies noting stability of these behaviors in childhood (Matson, Mahan, Hess, Fodstad, & Neal, ), while others noting a decrease in irritability and hyperactivity over time (Brown, Aman, & Havercamp, ). A study in the AS population noted a decrease in hyperactivity in adolescence and adulthood (Clayton‐Smith, ), while another study examing AS adolescents and adults noted an increase in anxiety in adults and a decrease in defiant behaviors (Prasad, Grocott, Parkin, Larson &Thibert, ). However, to date, no published studies have examined changes in a variety of maladaptive behaviors in AS over time.…”

Section: Introductionmentioning

confidence: 99%

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Maladaptive behaviors in individuals with Angelman syndrome

Sadhwani

Willen

LaVallee

et al. 2019

American J of Med Genetics Pt A

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Maladaptive behaviors are challenging and a source of stress for caregivers of individuals with Angelman Syndrome (AS). There is limited information on how these maladaptive behaviors vary over time among individuals with AS due to different genetic etiologies. In this study, caregivers of 301 individuals with AS were asked questions about their child's behavior and completed the Aberrant Behavior Checklist-Community version (ABC-C). Developmental functioning was evaluated with either the Bayley Scales of Infant Development, Third Edition (Bayley-III) or the Mullen Scales of Early Learning (MSEL). Family functioning was assessed using the parent-completed Parenting Stress Index (PSI) and the Family Quality of Life questionnaire (FQoL). Approximately 70% of participants had AS due to a deletion on the maternally-inherited copy of chromosome 15q11q13. Results revealed that at baseline, individuals with AS had low scores in the domains of lethargy (mean: 2.6-4.2 depending on genotype) and stereotypy (mean: 2.3-4.2 depending on genotype). Higher cognitive functioning was associated with increased irritability (r = 0.32, p < .01). Hyperactivity (p < .05) and irritability (p < .05) increased with age across all genotypes and should be ongoing targets for both behavioral and pharmacological treatment. Concerns for short attention span were endorsed by more than 70% of caregivers at baseline. Maladaptive behaviors, particularly hyperactivity, irritability and aggression, adversely affected parental stress, and family quality of life. K E Y W O R D S behavior rating scale, behavioral symptoms, developmental disabilities, problem behavior Lynne M. Bird and Wen-Hann Tan contributed equally to the paper.

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Section: Discussioncontrasting

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Maladaptive behaviors in individuals with Angelman syndrome

Sadhwani

Willen

LaVallee

et al. 2019

American J of Med Genetics Pt A

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“…We observed that the AS symptoms change with age, reflecting the maturational pattern of the brain, as previously observed in AS adults [3,28]. It is important for clinicians to understand the clinical and EEG features of adult AS.…”

Section: Discussionmentioning

confidence: 48%

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

et al. 2014

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Background: This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15. Summary: A retrospective analysis of data from six adults patients with clinical, electroencephalographic and genetic confirmation of AS was performed. Movement disorders of the hands and mouth, laughing spells, severe expressive speech disorders, a happy nature, hyposomnia and anxiety are the major neurological characteristics of AS in adulthood. Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood. Epilepsy, one of the most frequent symptoms in childhood and in adulthood, is characterised by specific electroencephalographic patterns. Key Messages: These clinical characteristics are important to improve the clinical awareness and genetic diagnosis of AS. Clinicians must be better informed concerning the adult phenotype as it is not well described in the literature. We stress the importance of AS as one of the main causes of intractable epilepsy. The authors suggest frontal and cerebellar dysfunction. Further functional cerebral imaging studies are necessary.

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“…We identified only one patient with pUPD with clinical features more moderate in comparison to patients with deletion. He did not have seizures and his speech was better like it was published in similar case by (Smith, 2001). Mutations within the UBE3A gene give rise to a typical but more severe clinical presentation Science Publications OJBS without hypopigmentation.…”

Section: Discusionmentioning

confidence: 74%

Unusual Spectrum of Genetic Pathologies and Novel Mutations in PWS and as Patients Detected by a Wide Cluster of Methods

Kotysova¹,

Petrovič²,

Chandoga³

2014

OnLine Journal of Biological Sciences

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Prader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the PWS/AS critical domain. Apart from unifying methylation-specific PCR and allele specific realtime PCR with melt-curve analysis as the fundamental methods for suspected diagnosis confirmation, we combined several specifically methods used to clarify the molecular cause. In our study we had identified and genotyped 24 PWS and AS patients from 450 suspected. Applied cluster of methods-microsatellite analysis of SNPs within the chromosome 15, Methylation-specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) and UBE3A gene sequence analysis, enable us to determined atypical deletion that does not include common breakpoints, novel highly likely to be pathologic UBE3A mutation, uniparental heterodisomy together with partial isodisomy and epimutation without any deletions in the imprinting centre. We present genotype-phenotype correlation of all positive cases. In addition, we estimate the incidence for Slovakian population at 1 in 20,000 for PWS and 1 in 40,000 for AS.

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Angelman syndrome: evolution of the phenotype in adolescents and adults

Cited by 39 publications

References 19 publications

Maladaptive behaviors in individuals with Angelman syndrome

Maladaptive behaviors in individuals with Angelman syndrome

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

Unusual Spectrum of Genetic Pathologies and Novel Mutations in PWS and as Patients Detected by a Wide Cluster of Methods

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