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Females and CASK

Loss of Function variants

Girls who have a genetic variant to their CASK gene that causes a loss of function will have moderate to severe intellectual disability (ID) and progressive microcephaly (a small head and brain) with underdevelopment of specific parts of the brain called the pons and the cerebellum. This is known as microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Symptoms and features can also include:

  • absent or severely impaired speech in most girls and difficulties using alternative means of communication;
  • about 25% of girls will learn to walk unassisted, but the majority will require mobility equipment;
  • seizures: about 40% of girls have seizures before the age of 10 years that can be hard to control (intractable);
  • weak muscle tone (hypotonia);
  • tight muscle tone in legs and/or arms (hypertonia/spasticity);
  • difficulties sitting independently;
  • movement disorders e.g. dystonia (unintended muscle contractions);
  • eye and/or sight anomalies;
  • sensorineural hearing loss;
  • sleep disturbances;
  • feeding issues;
  • repetitive hand movements and self biting.

 

Reduced Function Variants

Females who have a genetic variant to their CASK gene, that causes it to have a reduced function, can be relatively unaffected with intelligence within the standard range or they can have ID (which can be mild to severe). They may also have an eye anomaly, which can vary, and/or other features (that have been found in a few but not all girls).

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Lavvina Thiyagarajan

MBBS

Lavvina is a clinical genetics fellow from NSW, Australia with a background in general paediatrics. She has practiced in multiple tertiary paediatric hospitals in Australia, both in general paediatrics and clinical genetics. She currently provides specialist advice for the NGO, Taking Paediatrics Abroad and is a member of GeneEQUAL, an inclusive research group aiming to improve accessibility of genetic testing and care for people with intellectual disability by co-design.

Lavvina’s clinical interests are in the genetics of autism, intellectual disability and immunogenomics. She is particularly passionate about including the patient groups she works with in research and healthcare decisions.

Lavvina is affiliated with The Children’s Hospital Westmead and the University of New South Wales where she is undertaking a Masters by Research, co-producing a model of genetic healthcare that aligns with the preferences of Autistic people.

Permission to Use Photos and Media

I, the undersigned, give my consent to the Angelina CASK Neurological Research Foundation Ltd and Angelina CASK Neurological Research Foundation Inc (ACNRF) to use photographs, videos, or other media featuring me, my child, or an individual under my legal guardianship (“Media Materials”).

This consent permits ACNRF to use these Media Materials for purposes such as:

  • Raising awareness of CASK-related disorders
  • Promoting ACNRF’s initiatives, campaigns, and programs
  • Sharing on ACNRF’s website, social media, newsletters, and other communication channels
  • Use in advertising, educational resources, and fundraising efforts.

I understand that these materials may be distributed publicly and may appear in print, digital, and other media formats worldwide and in perpetuity.

Terms and Conditions:

1. Usage Rights: I grant ACNRF the right to edit, adapt, or modify the Media Materials as needed for the purposes outlined above.

2. No Compensation: I acknowledge that no monetary or other compensation will be provided for the use of the Media Materials.

3. Release of Claims: I waive any rights to inspect or approve the final product and release ACNRF from any claims, liabilities, or damages related to the use of the Media Materials, including but not limited to claims of defamation, privacy, or copyright infringement.

4. Ownership Confirmation: I confirm that I have the authority to grant these rights for the provided Media Materials and that they do not infringe on the rights of any third party.

This authorisation is voluntary and may be revoked by written notice to ACNRF at any time, though I understand that materials already published may not be withdrawn.

“In some ways, that CASK-linked pathology is degenerative in nature provides a positive outlook. Because microcephaly in CASK-linked pathology progresses postnatally, there may be a temporal window when therapeutic intervention might prevent or slow further brain cell loss. Regression, even in adolescence, has also been observed in some cases of MICPCH [119], again offering the tantalizing possibility that a therapeutic approach might prevent such decline under conditions when degeneration is known to progress. The potential benefits of intervention might extend even further given that non-cell-autonomous toxicity could also affect functioning of the remaining neurons; reduction of such toxicity, especially when coupled with high-intensity rehabilitative measures [120], might offer real hope for a positive impact on functional outcomes.”   

https://www.mdpi.com/2073-4409/11/7/1131/htm