Is it advisable to do exercise when affected by 22q13 deletion / Phelan-McDermid Syndrome? Which activities would you suggest and how intense should they be?

Yes, regular physical activity is highly recommended for individuals with 22q13 deletion / Phelan-McDermid Syndrome, as it plays a vital role in improving motor coordination, muscle tone, and overall quality of life. Exercise programs should be tailored to the individual's specific developmental and sensory needs, focusing on consistency and safety rather than high-intensity performance.

Is physical activity beneficial for Phelan-McDermid Syndrome?

For individuals living with 22q13 deletion / Phelan-McDermid Syndrome, physical activity is much more than just "exercise." Because many patients experience hypotonia (low muscle tone), global developmental delays, and sensory processing differences, structured movement is essential for building core strength and improving postural stability. Beyond the physical benefits, exercise helps regulate the nervous system, which can assist in managing the anxiety or behavioral challenges often seen in the 22q13 deletion / Phelan-McDermid Syndrome community. At DiseaseMaps.org, our community of 35 members has shared that movement often serves as an effective tool for mood regulation and sensory integration.

What types of activities are recommended for 22q13 deletion / Phelan-McDermid Syndrome?

The best activities for 22q13 deletion / Phelan-McDermid Syndrome are those that combine rhythmic movement with proprioceptive input. Because balance and coordination may be affected, activities that provide stability or allow for controlled movement are preferred. Safe and beneficial activities include:

• Aquatic therapy or swimming: Water provides natural resistance for muscle strengthening while offering buoyancy that makes movement easier for those with low tone.


• Walking and hiking: These activities provide excellent vestibular input and help with endurance.


• Therapeutic horseback riding (Hippotherapy): This is highly effective for improving core strength and postural control.


• Yoga or stretching: Gentle, guided movements help improve flexibility and body awareness.


• Cycling: Using a stationary bike or a tricycle with support can help build lower-limb strength.

How should an exercise program be structured for safety?

Safety is the priority when starting any new routine for 22q13 deletion / Phelan-McDermid Syndrome. It is critical to begin with a consultation from a physical therapist who specializes in neurodevelopmental conditions. Progression should be gradual, focusing on "pacing"—the practice of matching the activity intensity to the individual’s energy levels on a given day. If the individual shows signs of sensory overload or extreme fatigue, it is important to pivot to a calmer, low-intensity activity like gentle stretching or sensory play. Avoid high-impact sports that carry a high risk of falls or concussions, especially if the individual has underlying epilepsy, which is a known comorbidity in some cases of 22q13 deletion / Phelan-McDermid Syndrome.

The role of professional support and pacing

Physical therapy is a cornerstone of management for 22q13 deletion / Phelan-McDermid Syndrome. A physical therapist can create a personalized "home exercise program" that addresses specific gait issues or balance deficits. On "low-energy" days, do not feel pressured to complete a full workout. Instead, focus on small, manageable movements that encourage range of motion. The goal is to create a positive association with movement, ensuring that the individual feels successful and supported throughout the process.

Next steps

• Consult with your primary care physician or a neurologist to ensure there are no cardiac or neurological contraindications to exercise.


• Request a referral to a pediatric physical therapist (PT) or an occupational therapist (OT) with experience in genetic syndromes.


• Join the 22q13 deletion / Phelan-McDermid Syndrome community at DiseaseMaps.org to connect with other caregivers and share successful activity strategies.


• Document your loved one's response to different activities to help your therapy team refine the program over time.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always consult your healthcare provider regarding specific health concerns.

References

• Phelan-McDermid Syndrome Foundation (pmsf.org)


• NIH Genetic and Rare Diseases (GARD) Information Center


• Orphanet: 22q13.3 deletion syndrome


• OMIM (Online Mendelian Inheritance in Man) - Entry #606232