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KCNQ2 Information and Therapy Options at NAPA Centre

Feb 29th, 2024 | by Pauline Chuang

Pauline Chuang

February 29th, 2024

What is KCNQ2?

KCNQ2 or KCNQ-related disorder encompasses a range of neonatal epileptic conditions. Children with KCNQ2 typically present with frequent seizures in the first week of life. These seizures appear as stiffening of the entire body and are often associated with changes in heart rate and breathing. Some children can gain seizure control through medications, while some have refractory seizures where no medications work. The severity and frequency of seizures can vary widely among affected individuals. This condition affects an estimated 1 in 17,000 births and affecboth males and females equally.

What Causes KCNQ2?

KCNQ2 is caused by a mutation in the KCNQ2 gene. This gene plays an essential role in a cell’s ability to generate and transmit electrical signals, allowing the brain to communicate with the rest of the body. It can also be inherited from one or both parents who carry the mutated gene.

What Are Some Challenges Children With KCNQ2 Will Face?

It is important to note that the severity and specific symptoms can vary widely among children with KCNQ2-related disorders.

What Are Some Treatment Options for KCNQ2?

Whilst there is currently no treatment for KCNQ2-related conditions, early intervention is crucial. A multidisciplinary and individualized therapy program is recommended to support the acquisition of gross motor, fine motor, communication and oral-motor skills.

  • Physiotherapy may focus on improving mobility, muscular strength, coordination, and endurance.
  • Occupational therapy may target improving upper limb strength, upper extremity function, and posture to support activities of daily living, such as dressing.
  • Speech and language pathologists may support increasing speech intelligibility (i.e., ability to be understood) and developing oral motor skills related to feeding in the early years, such as sucking.

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre 

NAPA Centre provides paediatric therapy services to children diagnosed with KCNQ2. Learn more about treatment options in this blog post.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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