Corpus Callosum Disorders (CCD) (Group of Conditions)

Corpus Callosum Disorders (CCD) (Group of Conditions)

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

This page has been co-developed with Australian Disorders of the Corpus Callosum (AusDoCC).1

Emergency Management

Below are some considerations, based on lived experience, for the emergency management of individuals living with corpus callosum disorders (CCD), including when presenting to emergency departments:1

  • CCDs are extremely heterogeneous in cause and presentation. CCD impacts are often mistaken for, or overshadowed by, other conditions that are more commonly recognised, such as autism, epilepsy and obsessive-compulsive disorder (OCD), causing the full range of an individual’s CCD impacts to be overlooked
  • It is important for medical staff to identify and take in account the medical history and personal profile of an individual with CCD, which can provide relevant information about the appropriate intervention and support.
  • Individuals with CCD typically experience anxiety, which can cause them to be overwhelmed, creating difficulties with communication in unfamiliar and stressful environments and affect their ability to self-advocate.
  • It is expected that children and teens will have a familiar adult present to advocate for them
Clinical Care Guidelines

We are not aware of any official clinical care guidelines for corpus callosum disorders (CCD) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

AusDoCC has created management guidelines for professionals for all life stages of CCD, with input from health professionals in Australia in 2018.

Synonyms

Corpus callosum dysgenesis (CCD), disorders of the corpus callosum (DCC), complete agenesis of the corpus callosum (ACC), partial agenesis of the corpus callosum (pACC), Hypoplasia of the corpus callosum (thinner), Hyperplasia of the corpus callosum (thicker)

Summary

The term, Corpus callosum Disorders (CCD), describes a group of congenital conditions in which there is abnormal development of the corpus callosum.1 The corpus callosum is a thick bundle of more than 200 million nerve fibres connecting the right and left hemispheres of the brain. It enables communication and the transfer of cognitive and sensory information between the two hemispheres.1-3 The corpus callosum forms during early development of the foetus. In cases where the corpus callosum fails to develop properly, this may result in the corpus callosum being completely absent (agenesis), partially absent (partial agenesis), is present but is thinner (hypoplasia) or thicker (hyperplasia) than usual.1,4-5

CCD varies widely (heterogeneous) in cause and presentation,4 with impacts ranging from a mild effect to severe disability.1 The exact cause of many corpus callosum disorders (CCD) is still unknown and accurate prognosis is difficult.1 In some cases, CCDs may be part of a syndrome.1,4

Personal Stories

Corpus callosum disorders (CCD) vary between individuals, and each person’s experience is unique.

Personal stories can be found at AusDoCC: Our Stories.

Symptoms

A CCD is present at birth and is lifelong. Impacts can vary widely depending on the type of CCD, and range from few or almost no impacts to complex.

Individuals with CCD may experience cognitive, physical, and psychological impacts including developmental delay, anxiety, communication problems, hypotonia, visual/hearing deficits, seizures, difficulties with regulating emotions and behaviours, and issues with social interactions, including increased persuadability and credulity.4-11

Please speak to your medical team to learn more about the symptoms and complications of a CCD.

Cause/Inheritance

It is not always easy to determine the cause of a corpus callosum disorder.1 The exact cause of many corpus callosum disorders (CCD) is still unknown but it is thought that most CCDs have a genetic cause, with genetic changes in a large number of genes being associated with CCDs.4  These genetic changes may be inherited or may be due to a random genetic change (de novo mutation) occurring before birth. For some individuals, their CCD may be part of a syndrome.1,4

In other cases, the CCD may be caused by external factors such as fetal exposure to alcohol, toxins or infection.1

If you would like to learn more about the inheritance and impact of a particular type of CCD with a genetic cause, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

A CCD is diagnosed by neuroimaging using magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain/head. Foetal ultrasounds on newborns or a prenatal ultrasound may also detect a CCD;1 however, some individuals are not diagnosed until later in childhood or as adults.

Treatment

Treatment for corpus callosum disorders (CCD) may be targeted at managing symptoms and assisting with developmental milestones.  Management strategies may include physiotherapy, occupational therapy, psychology, speech therapy and seizures management.1 Early intervention and support may be beneficial throughout life, particularly with early development, education, employment and social inclusion.1

It is best to speak with your medical team to learn more about possible treatment strategies for individual CCD presentations and impacts.

Clinical Care

Healthcare professionals involved in the treatment of corpus callosum disorders may include general practitioners (GP), perinatologists, paediatricians, geneticists, radiologists, neurologists, endocrinologists, cardiologists, gastroenterologists, otorhinolaryngologists (ENT or Ears, Nose and Throat specialists), ophthalmologists, optometrists, audiologists, anaesthesiologists and psychologists.1 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Research and Data

The International Research Consortium for the Corpus Callosum and Cerebral Connectivity is composed of scientists and clinicians from around the world working in collaboration to accelerate research and promote data sharing. The consortium benefits from a shared database using standardised collection tools.2

Brain Development and Disorders Laboratory is a key global research centre lead by a key corpus callosum researcher, Professor Linda Richards AO and has a team which includes Australian scientists.

Rare Disease Organisation(s)

Australian Disorders of the Corpus Callosum (AusDoCC)
Website: https://www.ausdocc.org.au/

AusDoCC is the peak group supporting people with corpus callosum disorders (CCD) and their families and professionals, in Australia and New Zealand.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Support Services/Resources

AusDoCC: Information for Teachers has resources to assist teachers who have a child with a corpus callosum disorder in the classroom.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

References
  1. Australian Disorders of the Corpus Callosum (AusDoCC). Accessed 20 November 2023. https://www.ausdocc.org.au/
  2. International Research Consortium for the Corpus Callosum and Cerebral Connectivity. Accessed 20 November 2023. https://www.irc5.org/
  3. University of Queensland. Queensland Brain Institute. Corpus callosum. Accessed 20 November 2023. https://qbi.uq.edu.au/brain/brain-anatomy/corpus-callosum
  4. Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014; 137(Pt 6):1579-613. https://doi.org/10.1093/brain/awt358
  5. Lerman-Sagie T, Ben-Sira L, Achrion R. et al. Thick fetal corpus callosum: An ominous sign? Ultrasound Obstet. Gynecol. 2009; 24(1):55-61. https://doi.org/10.1002/uog.6356
  6. Brown WS, Paul LK. The Neuropsychological Syndrome of Agenesis of the Corpus Callosum. Journal of the International Neuropsychological Society. 2019;25(3):324-330. https://doi.org/10.1017/S135561771800111X
  7. Siffredi, V., Anderson, V. A., McIlroy, A., Wood, A., Leventer, R. J., & Spencer-Smith, M. (2018). A Neuropsychological Profile for Agenesis of the Corpus Callosum?: Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children. Journal of the International Neuropsychological Society, 24(5), 445-455. https://doi.org/10.1017/S1355617717001357
  8. Maxfield, M., McVilly, K., Devine, A. et al. Cognitive and Psychological Impacts of Congenital Corpus Callosum Disorders in Adults: A Scoping Review. Adv. Neurodev. Disord. 2023; 7 (165–188). https://doi.org/10.1007/s41252-023-00323-8
  9. Shakes P, Cashin A, Hurley J. Scoping Review of the Prenatal Diagnosis of Agenesis of the Corpus Callosum. J Obstet Gynecol Neonatal Nurs. 2020;9(5):423-436. https://doi.org/10.1016/j.jogn.2020.06.003
  10. Maxfield, M., Cooper, M.S., Kavanagh, A. et al. On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum. Orphanet J Rare Dis. 2021; 16(512). https://doi.org/10.1186/s13023-021-02140-5
  11. Barnaby JM, Dean RJ, Burgess H. et al. Increased persuadability and credulity in people with corpus callosum dysgenesis. Cortex. 2022; 155:251-263. https://doi.org/10.1016/j.cortex.2022.07.009
Page Last Updated

22/10/2024 08:55