Highlighting Speech and Language Characteristics in Angelman Syndrome: A Case Study

Srabanti Khemka; Priyanka Dubey; Chandan Rana

doi:10.36948/ijfmr.2023.v05i05.5838

Highlighting Speech and Language Characteristics in Angelman Syndrome: A Case Study

Author(s)	Srabanti Khemka, Priyanka Dubey, Chandan Rana
Country	India
Abstract	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 set-up 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.
Keywords	Angelman syndrome, Com-DEALL, Global developmental delay
Published In	Volume 5, Issue 5, September-October 2023
Published On	2023-09-20
Cite This	Highlighting Speech and Language Characteristics in Angelman Syndrome: A Case Study - Srabanti Khemka, Priyanka Dubey, Chandan Rana - IJFMR Volume 5, Issue 5, September-October 2023. DOI 10.36948/ijfmr.2023.v05i05.5838
DOI	https://doi.org/10.36948/ijfmr.2023.v05i05.5838
Short DOI	https://doi.org/gssfqx

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Highlighting Speech and Language Characteristics in Angelman Syndrome: A Case Study

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