ABOUT CDKL5

Signs and Symptoms of CDKL5 

What is CDKL5?

Is Any Child Seizure Free?

How Can I Have My Child Tested? 

Is Research Being Done For CDKL5? 

What Disability Services Does My Family Qualify For?

Links to Other Resources for Special Needs Families

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Signs and Symptoms of CDKL5

“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 leg”

(www.cdkl5.com)

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. CDKL5 stands for cyclin‐dependent kinase‐like 5, and is located on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The CDKL5 gene was previously called STK9.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

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 (please refer to the FAQ regarding signs and symptoms of CDKL5). It is important to note that we don’t know the full spectrum of CDKL5 disorders at this time. It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder.” (www.cdkl5.com)

Is Any Child Seizure Free? 

At this time there is not a known cure for seizures associated with CDKL5 disorder.  However, in rare occurrences some families have been able to obtain “honeymoon” periods of seizure control.

How Can I Have My Child Tested?

Contact your pediatrician or City of Hope Molecular Diagnostic Laboratory at www.cityofhope.org for a simple blood test with result usually reported in approximately 4 to 6 weeks from the time of the blood draw.

Is research being done for CDKL5?

Yes!  For details on research to eliminate the symptoms associated with CDKL5 and similar disorders being funded by Hope4Harper please see Research.  For additional CDKL5 resources please see CDKL5info and Additional Sites for more detailed information.

What Disability Services Does My Family Qualify For? 

Links to Other Resources for Special Needs Families

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