CDK13

What is a CDK13-related disorder?

CDK13-related disorder occurs when there is a change or alteration (like a spelling mistake) to the CDK13 gene, meaning the gene loses or alters its usual function. This results in changes to the usual development patterns in the affected individual.

CDK13 is a gene on chromosome 7p14.1. Whilst the exact function of the CDK13 gene is not yet fully understood, is part of a group of genes that are known to control important cellular processes (i.e. instructing or switching certain cellular processes on or off, like a master switch).1

To date CDK13-related disorder has been reported in 43 individuals. In all cases so far the genetic change affecting CDK13 has happened sporadically, or ‘out of the blue’ (de novo). That is, no parents have been found to be carriers of the CDK13 gene change.2 Many of the cases reported in research studies to date have come from large studies of individuals with developmental delay/intellectual disability.

 

For further information contact:

For further information, do get in touch with the CRE Speech and Language research team at:

Email: geneticsofspeech@mcri.edu.au

Phone: (03) 9936 6334

Frequently asked questions

Some individuals with CDK13-related disorder have:2

  • learning difficulties/intellectual impairment or disability
  • recognizable facial features
  • behavioural difficulties (some children may have autism spectrum disorder or autistic traits, attention-deficit hyperactivity disorder)
  • feeding difficulties in infancy
  • structural cardiac (heart) defects
  • seizures

Some children with CDK13-related disorder may start speaking later than peers and then develop verbal speech. Other children do not develop spoken communication and are referred to as being ‘nonverbal’. For some children, their understanding of spoken language (receptive language) is better than their expressive language skills.2

There is currently little data on the specific speech features of children with CDK13 related disorder. Whilst it is known that some individuals may have delayed speech development or may be nonverbal, we do not yet fully understand the speech profile.

In one case study, we found that early speech development was characterised by no or limited babbling and delayed onset of first words (2 years old) and two word combinations (3 ½ years old). The child was able to speak in short sentences at age 4 years old and made marked progress throughout the primary school years. At 11 years old the child continued to show some signs of groping however made very few speech sound errors and was largely intelligible.  

Depending on the individual child’s needs and abilities, some children may attend mainstream schools with additional classroom support, whilst other children may attend special development schools. Recommendations for the most appropriate school setting may vary from country to country. Paediatricians and allied health professionals can assist with ensuring appropriate community and educational supports are in place to support children and their families.

Speech sound development and language abilities should be assessed by a speech therapist to determine the nature of a child’s communication strengths and challenges and how to best support their needs and development. Every child’s communication profile is different and no single ‘one size fits all’ treatment exists. Rather, there should be personalised assessment and treatment approaches tailored to a child’s specific speech and language needs.

It has been suggested that discussion about transition plans including financial, vocation/employment if feasible, and medical arrangements, should begin at 12 years of age, and that developmental pediatricians can provide assistance with transition to adulthood.2

Whilst current research has identified speech and language development is an area of difficulty for many children with CDK13-related disorder, there have been no studies to date that track how communication development changes over time. Further research on the speech and language development of larger groups of children with CDK13-related disorder is needed better understand communication strengths and challenges across the lifespan. 

References

  1. National Center for Biotechnology Information. (2019). Gene: CDK13 cyclin dependent kinase 13. Retrieved from
    https://www.ncbi.nlm.nih.gov/gene/8621
  2. Bostwick B. (2019). CDK13-Related Disorder. GeneReviews.

 

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