What is CDKL5?

CDKL5 is a rare X linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro¬developmental impairment. Most of the children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to a wheelchair , dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder.

What are the Signs and Symptoms of a CDKL5 Disorder?

Not everyone will have all the signs/symptoms listed here, and some may have other symptoms not mentioned:

• Epileptic seizures starting in the first five months of life
• Infantile spasms (in about 50%)
• Many different types of epilepsy usually including myoclonic jerks
• A small head (microcephaly) in about 50%
• Hand wringing movements or mouthing of the hands
• Marked developmental delay
• Limited or absent speech
• Hypersensitivity to touch, for example dislike of hair brushing
• Lack of eye contact or poor eye contact
• Gastro-esophageal reflux
• Constipation
• Small, cold feet
• Breathing irregularities such as hyperventilation
• Grinding of the teeth
• Episodes of laughing or crying for no reason
• Low/Poor muscle tone
• Very limited hand skills
• Some autistic-like tendencies
• Scoliosis
• Cortical Visual Impairment (CVI), aka "cortical blindness"
• Apraxia
• Eating/drinking challenges
• Interruptive sleep
• Characteristics such as a sideways glance, and habit of crossing legs