Tuberous sclerosis complex: clinical insights into communication and swallowing abilities: a case report

There is little published information on the presentation and response to intervention of communication and swallowing difficulties in individuals with tuberous sclerosis complex (TSC). This case study described the communication and swallowing abilities of a child with tuberous sclerosis complex (TSC) and examined how these abilities changed over time with intervention. This case report provided a detailed description of a child with TSC, focusing on communication and swallowing impairments (dysphagia), including presenting symptoms, assessment procedures, and therapeutic strategies used to address these difficulties. A 90% improvement in expressive communication skills was observed after six months of instruction. The communication outcomes revealed that ninety percent of the 20 words produced were spontaneous verbal initiations. The child's participation in interactional situations has also improved. The augmentative and alternative communication system was used to maximize visual accessibility. The child also showed improvement in dysphagia issues, including a hypersensitive gag reflex and partial lip closure. This case study emphasizes the complexity of managing the communication impairments and dysphagia associated with TSC. This highlights the need for individualized assessment and intervention strategies to increase the quality of life of affected individuals.

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Publication Details

Journal
Journal of Rare Diseases
Published
2026-02-03
DOI
https://doi.org/10.1007/s44162-026-00153-x
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
Field-Weighted Citation Impact
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article

Tuberous sclerosis complex: clinical insights into communication and swallowing abilities: a case report

Louiza Voniati, Leoni Chrysanthou, Rafaella Georgiou
Journal of Rare Diseases
Tuberous Sclerosis Complex Research
article

Tuberous sclerosis complex: clinical insights into communication and swallowing abilities: a case report

Louiza Voniati, Leoni Chrysanthou, Rafaella Georgiou
article en

Abstract

There is little published information on the presentation and response to intervention of communication and swallowing difficulties in individuals with tuberous sclerosis complex (TSC). This case study described the communication and swallowing abilities of a child with tuberous sclerosis complex (TSC) and examined how these abilities changed over time with intervention. This case report provided a detailed description of a child with TSC, focusing on communication and swallowing impairments (dysphagia), including presenting symptoms, assessment procedures, and therapeutic strategies used to address these difficulties. A 90% improvement in expressive communication skills was observed after six months of instruction. The communication outcomes revealed that ninety percent of the 20 words produced were spontaneous verbal initiations. The child's participation in interactional situations has also improved. The augmentative and alternative communication system was used to maximize visual accessibility. The child also showed improvement in dysphagia issues, including a hypersensitive gag reflex and partial lip closure. This case study emphasizes the complexity of managing the communication impairments and dysphagia associated with TSC. This highlights the need for individualized assessment and intervention strategies to increase the quality of life of affected individuals.

Journal of Rare DiseasesVol. 5(1)
European University Cyprus (CY)
Quality Education
Openalex Percentile: Top 66%
Tuberous Sclerosis Complex Research
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