Developmental Presentation, Medical Complexities, and Service Delivery for a Child With 16p11.2 Deletion Syndrome

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Abstract

Purpose:

To discuss the developmental presentation, complicating factors, and delivery of physical therapy services through the Birth to Three System, for 1 child with 16p11.2 deletion syndrome.

Key Points:

History, presenting problems, medical complexities, developmental and behavioral characteristics, interventions, and implications for service delivery are reviewed.

Conclusions:

The child experienced many difficulties reported in the literature related to the wide phenotype of 16p11.2 deletion syndrome. Focus on caregiver instruction and education to accomplish family-driven, functional outcomes increased carryover and allowed the greatest potential for success.

Recommendations for Clinical Practice:

Genetic disorders such as 16p11.2 deletion syndrome are increasingly being recognized as etiologic factors in neurodevelopmental conditions. It is critical for physical therapists to be aware of the varied manifestations and effects of this genetic disorder. Advanced problem solving and decision-making, ongoing assessment, and collaboration are required to comprehensively support the family in meeting the child's medical, behavioral, and developmental needs.

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