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Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome
1Department of Developmental Services, Birth To Three System, State of Connecticut, Hartford, Connecticut.
Insights
Physical therapy for 16p11.2 deletion syndrome focuses on caregiver education for functional outcomes. This approach maximizes carryover and success for children with this genetic disorder.
Area of Science:
- Genetics
- Developmental Pediatrics
- Physical Therapy
Background:
- 16p11.2 deletion syndrome is a recognized genetic cause of neurodevelopmental conditions.
- Early intervention is crucial for managing the diverse manifestations of this syndrome.
Observation:
- A case study details the physical therapy journey for a child with 16p11.2 deletion syndrome within the Birth to Three System.
- The child presented with challenges consistent with the syndrome's wide phenotypic spectrum.
Findings:
- Caregiver instruction and education were pivotal in achieving family-driven, functional outcomes.
- This focus enhanced skill carryover and promoted the child's potential for success.
Implications:
- Physical therapists must recognize the varied effects of 16p11.2 deletion syndrome.
- Advanced problem-solving, ongoing assessment, and collaboration are essential for comprehensive family support.
- Therapists play a key role in addressing the medical, behavioral, and developmental needs of these children.
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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