At what age should an infant with achondroplasia be referred to physical therapy (PT)?

Physical Therapy Referral for Infants with Achondroplasia

Infants with achondroplasia should be referred to physical therapy at the earliest opportunity, ideally within the first months of life, to address developmental delays and optimize motor milestone achievement. 1, 2

Rationale for Early PT Referral

• Early detection and therapeutic intervention are strongly recommended to address the unique developmental challenges in achondroplasia 1
• Infants with achondroplasia commonly experience delayed motor milestones, requiring specialized support to develop appropriate compensatory movement strategies 3
• Physical therapy should be initiated as part of standard of care medical management and should not be delayed, even if other treatments like vosoritide are being considered 1
• Early intervention can help address biomechanical challenges specific to achondroplasia that affect motor development 3

Key Developmental Concerns Requiring PT Intervention

• Motor milestone delays are common in achondroplasia, with 15% of children showing delayed motor skills that benefit from early intervention 1, 3
• Hypotonia is frequently observed in infants with achondroplasia and requires specialized physical therapy approaches 4
• Bowing of the lower legs, a common feature in children with achondroplasia, can be addressed through appropriate physical therapy techniques 5
• Cervical spine issues may limit head control and neck movement, requiring specialized PT assessment and intervention 2, 4

Multidisciplinary Approach

• Physical therapy should be part of a comprehensive multidisciplinary team approach that includes neurosurgeons, orthopedic surgeons, pain management specialists, and other healthcare professionals 1
• Regular developmental evaluations should be conducted at each follow-up visit, with physical therapy goals adjusted accordingly 2
• PT should focus on promoting physical activity while considering the unique biomechanical challenges of achondroplasia 1, 3
• Physical therapists should use achondroplasia-specific developmental milestones rather than standard pediatric norms when assessing progress 2, 3

Monitoring and Follow-Up

• Development should be tracked using achondroplasia-specific developmental recording forms and milestone expectations 3
• Regular reassessment of PT needs is essential as the child grows, with particular attention to spine-related issues that may emerge 1
• Physical therapy goals should evolve from early motor development to prevention of obesity and promotion of healthy physical activity as the child grows 1
• Long-term PT strategies should aim to improve physical function, which has been shown to significantly impact quality of life in adolescents and adults with achondroplasia 6

Cautions and Special Considerations

• PT assessment should include screening for signs of cervicomedullary compression, which may present early (mean age 31 months) and require neurosurgical intervention 1
• Physical therapists should be aware of the risk of foramen magnum stenosis and spinal cord compression, which can affect motor development and require surgical management 4
• Recent research suggests that early intervention is critical for normalization of skeletal growth, highlighting the importance of not delaying therapeutic interventions 7
• Parents should be educated about the expected developmental trajectory in achondroplasia to set appropriate expectations for PT outcomes 2, 3