Communication in Angelman syndrome: a scoping review (original) (raw)

Quantitative Measurement of Communication Ability in Children with Angelman Syndrome

Journal of Applied Research in Intellectual Disabilities

Background Angelman syndrome is a rare disorder in which most individuals do not develop speech. Testing of communication ability using traditional neuropsychological measures reveals a performance level at or near the floor of the instrument resulting in an inability to detect change when experimental therapeutics are applied. Methods Nine individuals, with molecularly confirmed AS, ranging in age from 34 to 126 months, and a single healthy control child (age 16 months) were audio and video-recorded while interacting with a licensed speechlanguage pathologist in an attempt to elicit vocalization and non-verbal communication. Thirty-minute audio recordings were transcribed and categorized per the Stark Assessment of Early Vocal Development-Revised and a phonetic inventory was created. Using video recordings, gestures were classified by function, either behavioral regulation or social interaction and further categorized as deictic or representational (i.e., behavioral regulation) and joint attention or shared engagement (i.e., social interaction). Results The range of vocalizations produced by the children with AS was characteristic of children between 0-6 months and none of the children with AS used advanced forms of vocalizations. The mean frequency of reflexive vocalizations, control of phonation and expansion far exceeded the number of uses of canonical syllables, consistant with the characteristics of children around 12 months of age. Most vocalizations were either laughter or isolated vowels, only three children with AS produced consonant-vowel combinations. Children with AS tended to use central and low vowels with few producing high vowels, suggesting the presence of childhood apraxia of speech. Conclusion Our results show the utilization of videorecorded behavioral observations provides a feasible and reliable alternative for quantification of communication ability in this patient population and may be employed during future clinical studies of potential therapeutics.

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.

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

Molecular Genetics & Genomic Medicine

Angelman Syndrome (AS) (OMIM #105830) is a neurodevelopmental disorder with clinical features characterized by severe developmental delay/intellectual disability, speech impairment, movement disorders or ataxia, and a unique behavioral profile with an excitable, smiling, and happy demeanor. In addition, the majority of AS patients are noted to be microcephalic by 2 years of age and exhibit epilepsy and characteristically abnormal electroencephalogram (EEG) patterns (Fiumara, Pittala, Cocuzza,

Communication Modality Sampling for a Toddler With Angelman Syndrome

Language, Speech, and Hearing Services in Schools, 2013

Purpose: Vocal, gestural, and graphic communication modes were implemented concurrently with a toddler with Angelman syndrome to identify the most efficiently learned communication mode to emphasize in an initial augmentative communication system. Method: Symbols representing preferred objects were introduced in vocal, gestural, and graphic communication modes using an alternating treatment single-subject experimental design. Conventionally accepted prompting strategies were used to teach symbols in each communication mode. Because the learner did not vocally imitate, vocal mode intervention focused on increasing vocal frequency as an initial step. Results: When graphic and gestural mode performances were compared, the learner most accurately produced requests in graphic mode (percentage of nonoverlapping data = 96). Given the lack of success in prompting vocal productions, a comparison between vocal and the other two communication modes was not made. Conclusion: A growing body of evidence suggests that concurrent modality sampling is a promising low-inference, data-driven procedure that can be used to inform selection of a communication mode(s) for initial emphasis with young children. Concurrent modality sampling can guide clinical decisions regarding the allocation of treatment resources to promote success in building an initial communicative repertoire.

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...

Communicative and cognitive functioning in Angelman syndrome with UBE3A mutation: a case report

2011

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by a severe intellectual disability, severe expressive language deficits, ataxia and a specific behavior with easy excitability excitable personality and an inappropriately happy predisposition. Phenotypical variations have been described on the basis of the underlying genetic mechanism. Several reports have suggested that individuals with AS resulting from UPD, UBE3A mutations and imprinting mutations show a milder or atypical phenotype than that observed in patients with a deletion of 15q11-q13 region. The purpose of this study is to describe cognitive and adaptive functioning in a child with AS resulting from UBE3A gene mutation, and especially the linguistic development, verbal and mimic-gestual, whose inventory and use are greater than those reported in literature.

Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names

Journal of Intellectual Disability Research, 2018

Background.-The combination of intellectual, communicative, and motor deficits limit the use of standardised behavioural assessments in individuals with Angelman syndrome (AS). The current study aimed to objectively evaluate the extent of social-emotional processing in AS using auditory event-related potentials (ERP) during passive exposure to spoken stimuli. Method.-Auditory ERP responses were recorded in 13 nonverbal individuals with the deletion subtype of AS, age 4-45 years, during the name recognition paradigm, in which their own names and names of close others (relative, friend) were presented among novel names. No behavioural responses were required. Results.-Contrary to findings in typical children and adults, there was no significant evidence of differential neural response to known vs. novel names in participants with AS. Nevertheless, greater amplitude differences between own and unknown names demonstrated the predicted association with better interpersonal relationships and receptive communication abilities. Conclusions.-These findings indicate good tolerability of ERP procedures (85% success rate). The lack of own name differentiation is consistent with increased incidence of the autism-related symptoms in AS. Strong associations between the caregiver reports of adaptive functioning and neural indices of known name recognition support the utility of brain-based measures for objectively evaluating cognitive and affective processes in nonverbal persons with neurodevelopmental disorders.

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.

Outstretched Index Finger -A Pointer is Peculiar Behaviour Characteristic of Angelman Syndrome in Adults -A Case Series Study

Journal of Intellectual Disability - Diagnosis and Treatment, 2019

Objective: To describe a behavioural feature, the outstretched pointing (and shaking) index finger, as a clue to the clinical diagnosis of Angelman syndrome (AS) in adults. Methods: A case series, consisting of 43 adult individuals with the clinical diagnosis of AS, approved by genetic testing is presented. In 16/43 patients the clinical diagnosis was made by the author, mostly due to behavioural signs, including the pointing gesture, which he had increasingly noticed as a behavioural key feature in his adult patients with AS. Conclusion: Pointing with the outstretched index finger is a communicative gesture frequently seen in adult persons with AS. Its absence is most likely due to more limited motor and/or intellectual functions, in phenotypes caused by deletions of 15q11-13 respectively. It can be seen as a clinical sign that significantly contributes to the diagnosis in adulthood.