Kabuki Syndrome

Understanding Kabuki Syndrome: Personalized Therapy for Unique Developmental Journeys

Children with Kabuki Syndrome thrive best with consistent support, a tailored therapy plan, and encouragement to reach their full potential. At Panasséa, we’re here to help your child grow in confidence, independence, and ability—step by step, at their pace.

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What is Kabuki Syndrome?

Kabuki Syndrome is a rare genetic disorder that affects multiple areas of development. It is typically characterized by distinctive facial features, mild to moderate intellectual disability, growth delays, and hypotonia (low muscle tone). Many children with Kabuki Syndrome also experience feeding difficulties, hearing loss, heart defects, or immune system challenges.

Common symptoms and challenges include:

  • Global developmental delays
  • Low muscle tone and joint laxity
  • Difficulty feeding in infancy and early childhood
  • Speech and language delays
  • Learning disabilities and cognitive delays
  • Sensory sensitivities or behavioral differences

Therapy plays a central role in helping children with Kabuki Syndrome build foundational skills in movement, communication, and daily living—empowering them to lead active, engaged lives.

Quick Facts:

  • Caused by mutations in the KMT2D or KDM6A genes
  • Affects approximately 1 in 32,000 births
  • Involves a broad spectrum of developmental and physical features
  • Early therapy can significantly improve quality of life

Why Choose Panasséa?

Specialized Therapy That Adapts to Your Child

Every child with Kabuki Syndrome is different, and so is our approach. We design therapy programs that match your child’s current needs, while keeping long-term goals in sight. We work closely with families to create positive, lasting change.

  • Multidisciplinary Team: We offer coordinated therapy across physical, occupational, and speech domains.
  • Experienced Therapists: Our team has experience supporting children with rare genetic conditions, including Kabuki Syndrome.
  • Whole-Family Support: We guide parents and caregivers with tools to continue developmental progress at home.
  • Customizable Care: Choose from in-clinic sessions, home programs, or teletherapy to fit your lifestyle.
  • Goal-Oriented Approach: We measure progress and adjust care plans to reflect growth and changing needs.

Services We Offer

Therapy Designed Around Your Child’s Needs

  1. Physical Therapy (PT):
    • Helps develop strength, coordination, and motor planning. Focus areas may include sitting, crawling, walking, and balance.
  2. Occupational Therapy (OT):
    • Supports fine motor skills, sensory integration, feeding, and daily routines such as dressing, brushing teeth, and play skills.
  3. Speech and Language Therapy:
    • Aids in language development, expressive and receptive communication, and oral motor challenges related to feeding.
  4. Feeding & Swallowing Therapy:
    • For children with oral motor delays, difficulty transitioning to solids, or sensory-based feeding concerns.
  5. Parent & Caregiver Support:
    • Includes coaching, home program planning, and emotional support to help families feel confident and informed.

Understanding the Journey

How We Work With You

  1. Initial Consultation:
    • We begin by listening—understanding your child’s history, strengths, and your family’s hopes. We outline how therapy can support your goals.
  2. Comprehensive Evaluation:
    • We assess gross and fine motor skills, speech and feeding abilities, sensory processing, and cognitive development.
  3. Personalized Therapy Plan:
    • A detailed plan tailored to your child’s individual profile, including session frequency, goals, and at-home strategies.
  4. Ongoing Care & Review:
    • We monitor your child’s progress and adjust care as needed, working in partnership with you every step of the way.

Common Questions:

  • How early should therapy start?
    Ideally during infancy or toddler years—early support leads to stronger long-term outcomes.
  • Can my child attend school?
    Yes. Many children with Kabuki Syndrome participate in inclusive education with tailored accommodations and support.
  • Will therapy help with speech delays?
    Absolutely. We focus on both verbal and alternative communication methods based on your child’s needs.
  • What about medical concerns?
    We collaborate with your medical providers and adapt therapy around health considerations like heart conditions or immune sensitivities.

FAQ

Q: Is Kabuki Syndrome a progressive condition?
A: No, it is not progressive. However, therapy needs may evolve as your child grows and encounters new challenges.

Q: Will my child always need therapy?
A: Some children benefit from long-term therapy, while others may shift to less frequent support as they meet developmental goals.

Q: Do you coordinate with schools or IEP teams?
A: Yes, we work closely with teachers and school professionals to align therapy goals with classroom success.

Q: How can I support my child at home?
A: We provide custom strategies, exercises, and routines that integrate easily into your daily life.


Educational Resources:

Kabuki Syndrome

Downloadable Guides:

  • “Kabuki Syndrome Overview for Caregivers”
  • “Growth and Feeding Challenges: Tips and Tools”

Videos:

  • “OT and PT Strategies for Low Muscle Tone”
  • “Speech Therapy for Kabuki Syndrome”

Blog Posts & Articles:

  • “Working with a Multidisciplinary Team”
  • “Navigating Medical Complexity as a Parent”

Book an Appointment

Take the First Step Towards Support

We’re here to help your family thrive. Contact us today to start your journey toward meaningful progress.

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Contact Us

Have questions or want to schedule a consultation?

  • Phone: +356 77 090 183
  • Email: contact@panassea.com
  • Address: 50 Erin Serracino Inglott Street, Iklin IKL 1401, Malta
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