Parent Description of Anxiety in Angelman Syndrome (original) (raw)
Related papers
Parent stress across molecular subtypes of children with Angelman syndrome
Journal of intellectual disability research : JIDR, 2015
Parenting stress has been consistently reported among parents of children with developmental disabilities. However, to date, no studies have investigated the impact of a molecular subtype of Angelman syndrome (AS) on parent stress, despite distinct phenotypic differences among subtypes. Data for 124 families of children with three subtypes of AS: class I and II deletions (n = 99), imprinting centre defects (IC defects; n = 11) and paternal uniparental disomy (UPD; n = 14) were drawn from the AS Rare Diseases Clinical Research Network (RDCRN) database and collected from five research sites across the Unites States. The AS study at the RDCRN gathered health information to understand how the syndrome develops and how to treat it. Parents completed questionnaires on their perceived psychological stress, the severity of children's aberrant behaviour and children's sleep patterns. Children's adaptive functioning and developmental levels were clinically evaluated. Child-related...
Behavioral Characteristics of Individuals with Angelman Syndrome: A Comprehensive Analysis
Ijnti, 2024
angelman syndrome is a neurogenetic disorder characterized by developmental delays, social interaction challenges, seizures, and sleep disturbances. This research paper aims to analyze the behavioral characteristics of individuals with Angelman syndrome, focusing on social interaction patterns, seizure activity, and sleep issues. Using a mixed-methods approach, data were collected through surveys, interviews with caregivers, and a review of existing literature. The findings highlight the positive social engagement typical of these individuals, the significant impact of seizures on behavior, and the prevalence of sleep disturbances. This paper concludes with recommendations for interventions to support affected individuals and their families.
Unmet clinical needs and burden in Angelman syndrome: a review of the literature
Orphanet journal of rare diseases, 2017
Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not h...
Parental and carer responses to Angelman syndrome and Prader-Willi syndrome
2011
The research project undertaken as part of this thesis was designed to assess family stress levels and the use of coping strategies among the carers of people with an intellectual disability caused by Angelman syndrome (AS) or Prader-Willi syndrome (PWS). Both syndromes are genomic imprinting disorders that arise from disruptions in genes located within human chromosome 15q11-q13. Although the disease phenotypes are quite distinct, the genetic mechanisms involved are common to both syndromes but involve paternally-derived mutations in PWS as opposed to maternal mutations in AS. Previous investigations in Western Australia (WA) indicated that people with AS and PWS experience substantial ill health over the life course, and require more frequent hospital-based care than their typically-developing peers (Thomson, 2005; Thomson, et al., 2006a; b; Thomson, et al., 2007). A high proportion of the people identified in the earlier study were resident in the family home and many relied on f...
Behavioral aspects of Angelman syndrome: A case control study
American Journal of Medical Genetics Part A, 2005
Angelman syndrome (AS) is a rare congenital disorder characterized by impairments in intellectual, neurological and motor functioning and a postulated behavioral profile. This study compared behavioral characteristics of 62 individuals with genetically confirmed AS and 29 individuals with presumed AS from clinical features, with a control group of young persons with intellectual disability (ID) derived from an Australian epidemiological register. Twelve behavioral items from the developmental behavior checklist (DBC) were used for this comparison. The groups were matched for chronological age, gender, and level of ID. In the AS group, significant differences were found for 10 behaviors, with poor attention span and impulsivity being less common, and overactivity/ restlessness, chewing or mouthing objects, eating non-food items, gorging food, food fads, fascination for water, hand flapping and sleep disturbance being more common. Interestingly, there was no difference in prevalence of unprovoked laughter. Comparison of the results of the genetically confirmed with the genetically unconfirmed AS cases showed no significant differences between individual behavior prevalence. These findings show that a ''behavioral phenotype'' of AS can be distinguished from others of similar level of ID, but it is different from that hitherto published. Abnormal food related behaviors, hyperactivity, fascination for water, hand flapping, and sleep disturbance should be included in a ''behavioral phenotype'' for AS. Apart from hyperactivity, ''ADHD-type'' behaviors are not more characteristic of AS than in ID generally. Therefore, the Consensus Criteria for the diagnosis of AS need to be reviewed.
Child Psychiatry & Human Development
Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers, no disease-modifying treatments are available. To support holistic clinical management and the development of AS-specific outcome measures for clinical studies, we conducted primary and secondary research identifying the impact of symptoms on individuals with AS and their unmet need. This qualitative research adopted a rigorous step-wise approach, aggregating information from published literature, then evaluating it via disease concept elicitation interviews with clinical experts and caregivers. We found that the AS-defining concepts most relevant for treatment included: impaired expressive communication, seizures, maladaptive behavior, cognitive impairment, motor function difficulties, sleep disturbance, and limited self-care abilities. We highlight the relevance of age in experiencing these key AS concepts, and the difference...
Behavior and neuropsychiatric manifestations in Angelman syndrome
Neuropsychiatric Disease and Treatment, 2008
Angelman syndrome has been suggested as a disease model of neurogenetic developmental condition with a specifi c behavioral phenotype. It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q. Here we review the main features of this phenotype, characterized by happy demeanor with prominent smiling, poorly specifi c laughing and general exuberance, associated with hypermotor behavior, stereotypies, and reduced behavioral adaptive skills despite proactive social contact. All these phenotypic characteristics are currently diffi cult to quantify and have been subject to some differences in interpretation. For example, prevalence of autistic disorder is still debated. Many of these features may occur in other syndromic or nonsyndromic forms of severe intellectual disability, but their combination, with particularly prominent laughter and smiling may be specifi c of Angelman syndrome. Management of problematic behaviors is primarily based on behavioral approaches, though psychoactive medication (eg, neuroleptics or antidepressants) may be required.
American Journal of Medical Genetics Part A
This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS, to evaluate the association of the phenotype with genotype and other determinants such as epilepsy and to get insight in possible targets for intervention. We confirmed the presence of a more severe phenotype in the 15q11.2-q13 deletion subtype. Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive status epilepticus, a high rate of crouch gait in the older children with risk of deterioration of mobility, a relatively low occurrence of microcephaly, a higher mean weight for height in all genetic subtypes with a significant higher mean in the nondeletion children, and a high occurrence of hyperphagia across all genetic subtypes. Natural history data are needed to design future trials. With this large clinical cohort with structured prospective and multidisciplinary follow-up, we provide unbiased data on AS to support further intervention studies to optimize outcome and quality of life of children with AS and their family.
This article appeared in a journal published by Elsevier. The attached copy is furnished to the author for internal non-commercial research and education use, including for instruction at the authors institution and sharing with colleagues.
Highlighting Speech and Language Characteristics in Angelman Syndrome: A Case Study
International Journal For Multidisciplinary Research, 2023
Introduction Angelman syndrome is a rare genetic neuro-developmental disorder diagnosed in one in 12000-20000 live births (NORD, 2018). Individuals with Angelman syndrome typically present with global developmental delay, learning difficulties, intellectual disability, seizures, ataxia, and a distinctive behavioral phenotype (Williams, 2010). One of the hallmark features of Angelman syndrome is severe speech and language impairment. Aim The study aimed to highlight speech and language characteristics in a case with Angelman syndrome. Methodology A case aged four-year Hindi speaking female child who reported with chief complaint of unable to speak clearly. Comprehensive Speech and language evaluation included administration of Receptive-Expressive Emergent Language Scales (REELS) (Kenneth R Bzoch), Communication Developmental Eclectic Approach to Language Learning (Com-DEALL developmental profile) (Pratibha Karanth, The Com-DEALL Trust), Speech intelligibility rating scale (AYJNIHH-7 point rating scale), Photo Articulation Test-Hindi (UNICEF project) , Com-DEALL Oro-motor Checklist (Pratibha Karanth, The Com-DEALL Trust) from a SLP perspective. The test scores were collected from the child's behavior observation during clinical setup and parental responses from daily life. Result and discussion: The preset study result indicated delayed developmental scores in receptive and expressive language, fine motor skills and cognition. Speech errors are noted in the domain of articulation. Post therapeutics findings indicated significant change in the developmental scores of all the domain. Conclusion: Research on assessment and intervention protocol of Angelman syndrome can be a stepping stone in terms of exploring information to provide adequate awareness and counseling of parents.