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 |
| _version_ | 1797669616222208000 |
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| author | Masoud Gharib Roshanak Vameghi Mohsen Fallahi |
| author_facet | Masoud Gharib Roshanak Vameghi Mohsen Fallahi |
| author_sort | Masoud Gharib |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T20:47:01Z |
| format | Article |
| id | doaj.art-1095b57c1a244e27842e90b292a5db0f |
| institution | Directory Open Access Journal |
| issn | 1735-3602 1735-3610 |
| language | English |
| last_indexed | 2024-03-11T20:47:01Z |
| publishDate | 2020-12-01 |
| publisher | Negah Institute for Scientific Communication |
| record_format | Article |
| series | Iranian Rehabilitation Journal |
| spelling | doaj.art-1095b57c1a244e27842e90b292a5db0f2023-10-01T07:22:34ZengNegah Institute for Scientific CommunicationIranian Rehabilitation Journal1735-36021735-36102020-12-01184503506Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case ReportMasoud Gharib0Roshanak Vameghi1Mohsen Fallahi2 Orthopedic Research Center, Mazandaran University of Medical Sciences, Sari, Iran. Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Department of Rehabilitation, Faculty of Paramedicine, Mazandaran University of Medical Sciences, Sari, Iran. 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.http://irj.uswr.ac.ir/article-1-1177-en.pdfbeaulieu‐boycott‐innes syndrome (bbis)developmental delayrehabilitation |
| spellingShingle | Masoud Gharib Roshanak Vameghi Mohsen Fallahi Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report Iranian Rehabilitation Journal beaulieu‐boycott‐innes syndrome (bbis) developmental delay rehabilitation |
| title | Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report |
| title_full | Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report |
| title_fullStr | Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report |
| title_full_unstemmed | Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report |
| title_short | Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report |
| title_sort | challenges of rehabilitation interventions in beaulieu boycott innes syndrome a case report |
| topic | beaulieu‐boycott‐innes syndrome (bbis) developmental delay rehabilitation |
| url | http://irj.uswr.ac.ir/article-1-1177-en.pdf |
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