Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report

BeaulieuBoycottInnes 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 (ASQ2) to assess the developmental status of an Iranian 20monthold 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 ASQ2 were below the cutoff points available for Iranian children, the effectiveness of rehabilitation interventions was slower than expected. It seems that early rehabilitation and close followup should be considered for these children. We can assume that early and properly sensorymotor and cognitive interventions in these children may lead to growth development and prevent secondary complications.