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 90 individuals in the literature. 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.2,3 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:2,3

  • learning difficulties/intellectual impairment or disability: most commonly mild-moderate intellectual disability, although there are some individuals with average cognitive ability.
  • 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
  • renal (kidney) and urogenital defects
  • musculoskeletal malformations
  • vision impairment
  • sleep disturbance
  • seizures

Out of 41 children with CDK13-related disorder, more than half of children had delayed first words, saying their first words at older than 15 months. A small number of children do not learn to speak. Most children begin combining words to create short sentences after 5 years old, and some individuals may not learn to combine words to create sentences.3

Children who do not learn to talk or combine sentences may benefit from augmentative and alternative communication (AAC), such as; sign language, communication books or speech generating devices. Some children use AAC when they are younger, and then stop using AAC as their verbal speech develops.3

Most children with CDK13-related disorder have stronger receptive language skills (understanding skills) than expressive language skills (ability to use language to express themselves).3

More than half of verbal children with CDK13-related disorder have childhood apraxia of speech (CAS). Phonological delay is also very common, seen in more than half of verbal children with CDK13-related disorder. Dysarthria and phonological disorder are both less common, seen in just under half of verbal children with CAS. Some children also have lisps. Most children have multiple, co-occurring speech disorders.3,4

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.

In a group of 23 school aged children with CDK13-related disorder, 2 children were home-schooled, 13 attended special schools and 8 attended mainstream schools.3

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.

Considering the high-incidence of CAS in children with CDK13-related disorder, it is important to consider if children have CAS and thus require tailored CAS intervention. Currently there are a number of treatments for CAS, such as the Nuffield Dyspraxia Programme version 3 (NDP-3) and the Rapid Syllable Transition Treatment (ReST) which are supported by the highest level of evidence at present.5

Speech development is delayed in CDK13-related disorder, meaning that many children need AAC to support their communication. For children with little speech or very unclear speech, comprehensive AAC supports are required so that an individual can meet all their communication needs. Early and intensive AAC intervention is important for children with CDK13-related disorder, with many children using a mix of AAC systems (called multimodal AAC, e.g., using sign language and a speech generating device).3

 

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 as 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. 

However, it is evident that many children have speech and language challenges well into young adulthood.3

For information and support on childhood apraxia of speech: https://www.apraxia-kids.org 

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.
  3. Morison, L. D., van Reyk, O., Forbes, E., Rouxel, F., Faivre, L., Bruinsma, F., Vincent, M., Jacquemont, M., Dykzeul, D. L., Genevieve, D., Amor, D. J., Morgan, A. T. (2023) CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases. European Journal of Human Genetics.
  4. Rouxel, F., Relator, R., Kerkhof, J., McConkey, H., Levy, M., Dias, P., ... & Genevieve, D. (2022). CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. Genetics in Medicine. 
  5. Murray, E., McCabe, P., & Ballard, K.J. (2015). A Randomized Controlled Trial for Children With Childhood Apraxia of Speech Comparing Rapid Syllable Transition Treatment and the Nuffield Dyspraxia Programme-Third Edition. Journal of Speech, Language and Hearing Research, 58(3), 669-686.

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