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Understanding CDLK5 and Exploring Treatment Options

Jun 17th, 2023 | by Pauline Chuang

Pauline Chuang

June 17th, 2023

What is CDLK5?

CDLK5 or CDLK5 Deficiency Disorder (CDD) is a rare neurodevelopmental condition resulting in seizures and severe developmental delays. It is estimated that this condition occurs approximately 1 in 40,000 to 60,000 live births and is more common in females than in males. CDD was only identified in 2005.

What Causes CDLK5?

CDD is caused by mutations in the CDKL5 gene, which provides instructions for making proteins that are crucial for normal brain function and development. This mutation occurs by chance and is not hereditary.

What Are Some Symptoms of CDLK5?

  • Early onset epilepsy (90% will develop seizures before 3 months of age)
  • Low muscle tone (hypotonia)
  • Global developmental delays
  • Sleep disturbances
  • Poor eye contact & visual fixation
  • Growth restriction
  • Swallowing & feeding difficulties
  • Constipation
  • Intellectual disability (usually severe)

What Are Some Treatment Options for CDLK5?

Early intervention is crucial as it can result in significant improvements in 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 pathology may support with increasing speech intelligibility (i.e., ability to be understood), developing expressive (i.e., using) and receptive (i.e., understanding) language.

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 paediatric therapists assist children with CDLK5 through physiotherapy, occupational and speech therapy. Learn more in this blog.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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