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What is Bainbridge–Ropers Syndrome?

Feb 01st, 2024 | by Zeena Cader

Zeena Cader

February 01st, 2024

What is Bainbridge–Ropers Syndrome?

Bainbridge-Ropers syndrome was first discovered in 2013 and is a rare genetic disorder impacting a person’s ability to learn and grow. It is commonly characterised by microcephaly (baby born with a smaller head), severe feeding difficulties, hypotonia (decreased muscle tone), intellectual disabilities, postnatal growth delay and abnormal facial features such as arched eyebrows. According to recent research there are currently 300 people diagnosed with this condition worldwide.

What is the Cause of Bainbridge–Ropers Syndrome?

Bainbridge-Ropers syndrome is caused by mutations in the ASXL3 gene. The ASXL3 gene provides instructions for producing a protein involved in the regulation of gene activity during development. Mutations in this gene disrupt the normal function of the protein, leading to abnormal development and the characteristic features of Bainbridge-Ropers syndrome.

What Are Some Challenges Children With Bainbridge–Ropers Syndrome May Face?

What Are Some Treatment Options for Bainbridge–Ropers Syndrome?

There is currently no cure, but early intervention and collaboration with a multidisciplinary team can help children reach their fullest potential.

  • Speech and Language Therapy can help improve communication skills, including speech intelligibility, language development, and social communication abilities.
  • Occupational Therapy can focus on enhancing fine motor skills, activities of daily living, sensory integration, and promoting independence in self-care tasks.
  • Physiotherapy: may be beneficial for improving gross motor skills, muscle strength, coordination, and balance.
  • Behavioural Interventions and support strategies may be helpful in addressing behavioral challenges, managing anxiety, promoting social skills development, and improving overall behavior and emotional well-being.
  • Educational Support: Special education services and individualized education plans (IEPs) can help address learning disabilities and provide academic support tailored to the individual needs of affected children.
  • Medical Monitoring: Regular medical follow-ups and monitoring by healthcare professionals are important for managing associated health concerns, monitoring growth and development, and addressing any medical issues that may arise.
  • Genetic Counseling may be beneficial for affected individuals and their families to understand the genetic basis of the condition, discuss inheritance patterns, and explore reproductive options and family planning.

About the Author

Zeena’s passion for working with children with disabilities stemmed from her early exposure to her older brother, who lives with cerebral palsy and an intellectual disability. Accompanying him to therapy sessions inspired her to pursue a career as an occupational therapist. Outside of NAPA Centre, she enjoys exploring new food spots, traveling to new places, and spending quality time with her family and friends.

About NAPA Centre 

NAPA paediatric therapists address areas of Global Developmental Delay through physiotherapy, occupational therapy, and speech therapy. Learn more.

NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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