Challenges of Rehabilitation Interventions in Beaulieu‐Boycott‐Innes Syndrome: A Case Report

Beaulieu‐Boycott‐Innes Syndrome (BBIS) which is an autosomal recessive disorder is defined by dysmorphic facial features and developmental delay. In this case study, we used the Age and Stages Questionnaire 2 (ASQ-2) for assessment of 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. Due to the fact that 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 starting rehabilitation as soon as possible and following up more closely should be considered. We can assume that early sensory-motor and cognitive interventions in these children, if done early enough, may lead to growth development and prevent secondary complications.