Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report
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 comp...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Negah Institute for Scientific Communication
2020-12-01
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| Series: | Iranian Rehabilitation Journal |
| Subjects: | |
| Online Access: | http://irj.uswr.ac.ir/article-1-1177-en.pdf |
| Summary: | 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. |
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| ISSN: | 1735-3602 1735-3610 |