Highlighting Speech and Language Characteristics in Angelman Syndrome: A Case Study (original) (raw)
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Clinical and cognitive characteristics of Angelman syndrome
Specijalna edukacija i rehabilitacija, 2021
Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition - KOBSON. A "hand search" (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor...
Communication in Angelman syndrome: a scoping review
Developmental Medicine & Child Neurology, 2019
AAC Augmentative and alternative communication ENG Enhanced natural gesture AIM A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome beyond the described dissociation between receptive language and speech. METHOD Three databases (PsycINFO, Embase, and Web of Science) were searched to retrieve articles investigating communication in Angelman syndrome. Seventeen articles investigating the broader communication profile were found; their methodology was evaluated against quality criteria. RESULTS Despite the absence of speech, individuals with Angelman syndrome have a wide repertoire of non-verbal communicative behaviours, mainly characterized by gestures, although advanced forms such as symbolic communication are used by some individuals. The use of communicative forms differs between the genetic aetiologies of Angelman syndrome; individuals with non-deletion aetiologies typically have greater communicative abilities.
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.
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.
Behavioral Interventions for Enhancing Adaptive Skills of Children with Angelman Syndrome
Angelman syndrome (AS) is a rare genetic disorder, first described by Harry Angelman in 1965 [1]. Thus, three of his patients showed severe to profound intellectual disabilities, excessive laughing, jerky movements, and abnormal physical development. Because the three participants emphasized a flat head disorder, they were called "puppet children". Their common behavior was characterized by ataxia, lack of speech, learning difficulties, seizures, tongue protrusion, and motor impairments. A new unique distinct syndrome known as AS was identified.
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...
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.
Angelman Syndrome: A Case Report
Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS.