Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report
Autor: | Roshanak Vameghi, Masoud Gharib, Mohsen Fallahi |
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Rok vydání: | 2020 |
Předmět: | |
Zdroj: | Iranian Rehabilitation Journal. 18:503-506 |
ISSN: | 1735-3610 1735-3602 |
DOI: | 10.32598/irj.18.4.100.7 |
Popis: | Beaulieu-Boycott-Innes syndrome (BBIS), an autosomal recessive disorder, is characterized by dysmorphic facial features and developmental delay. In this case study, we used the age and stages questionnaire 2 (ASQ-2) to assess the developmental status of an Iranian 20-month-old girl displaying a complex BBIS phenotype. Rehabilitation interventions were designed and performed focusing on neurodevelopmental delay. Because she had a severe developmental delay and her scores in all five domains of ASQ-2 were below the cut-off points available for Iranian children, the effectiveness of rehabilitation interventions was slower than expected. It seems that early rehabilitation and close follow-up should be considered for these children. We can assume that early and properly sensory-motor and cognitive interventions in these children may lead to growth development and prevent secondary complications. |
Databáze: | OpenAIRE |
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