From the Research
The recommended rehabilitation plan for individuals with Cat Eye Syndrome (CES) should be multidisciplinary and tailored to each person's specific manifestations, as CES affects multiple body systems with varying severity. The plan typically begins with comprehensive evaluation by specialists including geneticists, ophthalmologists, cardiologists, urologists, and developmental pediatricians to identify all affected systems 1. Early intervention services are crucial and should start in infancy, including physical therapy to address hypotonia and motor delays, occupational therapy for fine motor skills and sensory processing issues, and speech therapy for feeding difficulties and communication development. For ocular abnormalities, corrective lenses, patching therapy for amblyopia, or surgical interventions may be needed, as seen in a case report of a newborn with CES who underwent optical iridectomy and orbitotomy with excision of a cystic mass 2. Cardiac defects often require surgical repair in early childhood, followed by ongoing cardiology monitoring, as cardiac anomalies are a major sign of CES, present in 51% of cases 1. Kidney and urinary tract anomalies may necessitate surgical correction and nephrology follow-up. Hearing aids or cochlear implants might be recommended for hearing impairment, while educational support through Individualized Education Programs (IEPs) addresses learning disabilities and cognitive challenges. Regular follow-up with specialists throughout childhood and adolescence is essential to monitor development and adjust interventions.
Some key considerations in the rehabilitation plan include:
- Early identification and management of cardiac defects, given their high frequency in CES patients 1
- Comprehensive ocular evaluation and treatment, as ocular motility defects and ophthalmologic malformations are common in CES 1
- Monitoring for and addressing potential developmental delays, intellectual disability, and learning disabilities, which are frequent in CES patients 1, 3
- Genetic counseling for families, given the risk of parental transmission of the supernumerary marker chromosome, even if the transmitting parent has mild or absent features 1
This comprehensive approach is necessary because CES results from a chromosomal duplication of 22q11.2, affecting multiple developmental pathways and requiring coordinated care across medical disciplines to optimize outcomes. By prioritizing a multidisciplinary and tailored rehabilitation plan, individuals with CES can receive the necessary support to manage their condition and improve their quality of life.