Chung-Jansen Syndrome: Understanding a Rare Genetic Condition

In honor of Rare Disease Day on February 28th, we aim to raise awareness about Chung-Jansen Syndrome (PHIP-related disorder). This rare genetic condition affects each individual's development, social-emotional skills, and sensory processing differently.??

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What is Chung-Jansen Syndrome???

Chung-Jansen Syndrome, also known as PHIP-related disorder, is caused by a mutation in the PHIP gene. Since its discovery, only about 400 people worldwide have been diagnosed. However, as awareness increases, more families find answers, resources, and support.??

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Common Symptoms of Chung-Jansen Syndrome??

• Developmental Delays: Children may take longer to learn skills like rolling, crawling, walking, and talking. Many also experience low muscle tone, making movement more challenging.??

• Social-Emotional Differences: Some children struggle with anxiety, emotional regulation, or social interactions and may need extra support with routines and transitions.??

• Sensory Processing Differences: Many individuals are hypersensitive to sounds, lights, or textures, while others seek out movement or deep pressure for comfort. These challenges can impact daily life and learning.??

?Want to learn more? Visit the Chung-Jansen Syndrome website: https://chungjansensyndrome.eu/en/??

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Meet Robert: A Bright and Determined Child??

At CRIT USA, we are honored to work with Robert, a 3-year-old boy diagnosed with Chung-Jansen Syndrome. Since starting therapy in fall 2024, Robert has shown remarkable progress in his development.??

?Robert's Favorite Activities??

• Loves the color red??

• Enjoys playing with balls??

• Fascinated by bubbles??

• Dances to "Wheels on the Bus"??

• Loves opening and closing doors??

• Explores sensory lights??

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?How Chung-Jansen Syndrome Affects Robert's Daily Life??

Developmental Delays??

• Mobility Challenges: Walking is difficult, especially on uneven surfaces. He uses a posterior walker to move independently and is making significant progress.??

• Speech & Communication: Robert is learning to express himself through baby sign language, sound imitation, and an AAC app (Visuals2Go).??

• Feeding & Digestion: Sensitivity to food textures and medical issues related to digestion can make mealtime challenging.??

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Social-Emotional Differences??

• Robert is learning to manage frustration and emotions, especially when waiting or things are unexpected.??

• Since his speech is still developing, expressing his feelings can be difficult.??

• Despite challenges, he loves therapy, quickly picks up new skills, and enjoys playing with others.??

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Sensory Processing Differences??

• Robert often seeks oral sensory input, meaning he explores objects by putting them in his mouth.??

• He has sensitivities to loud sounds and certain textures, which can make structured activities more challenging.??

• With the proper sensory support, he is improving his ability to stay engaged and focused.??

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Robert's Remarkable Progress??

Thanks to therapy, Robert has made significant strides in his development:??

• Motor Skills: He now walks with his posterior walker, navigates small obstacles, and walks 40-50 feet independently. He can also squat and stand up without help.??

• Communication: Robert makes more sounds, asks for what he wants, and engages more in social activities. He is also learning to wave and blow kisses as greetings.??

• Feeding & Oral Motor Skills: He has improved texture tolerance, allowing gentle touch on his face, using oral motor tools, and feeding himself purees. He even accepts small bites from a spoon with minimal hesitation.??

• Emotional Regulation: Robert is learning how to handle frustration better. He now participates in structured activities with fewer outbursts and is improving his ability to follow instructions.??

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The Power of Early Intervention??

Robert's journey is a testament to the power of early intervention and therapy. While challenges remain, his resilience, determination, and infectious joy inspire everyone around him.??

Every step he takes reminds us of the incredible potential within every child, regardless of their diagnosis.??

Share this story to raise awareness about Chung-Jansen Syndrome and the importance of therapy for children with rare diseases!???

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