After being diagnosed with LAMA2-CMD at 39 years old, Cindy experienced 3 seizures, the last being generalised. This prompted brain CT imaging which revealed the typical periventricular hypo-density that is related to LAMA2-CMD. During her training to become a doctor, Cindy experienced occasional difficulties picking up findings on medical imaging. This prompted neuropsychological testing that demonstrated a significant disparity between verbal and visuospatial scores with the visuospatial scores being lower. Cindy asked our experts if this same neuropsychological profile is seen in the majority of LAMA2-CMD patients.
Dr Reghan Foley (Clinical investigator at the Neuromuscular and Neurogenic Disorders of Childhood Section – NIH):
“This is an excellent question and one which we, as a community of clinician-scientists studying LAMA2-CMD, are extremely interested in, as well. We suspect that the majority of patients with LAMA2-CMD may not have undergone detailed neuropsychological testing; however, we have not formally collected this information – at least yet.
This is highly informative and helpful for the LAMA2-CMD community to be aware of, and so thank you so much for sharing this information. As we continue to collect data prospectively in individuals with LAMA2-CMD, another means to help in determining if a disparity between verbal and visuospatial scores is prevalent across the international LAMA2-CMD community at this time would be to pose this question via the platform of the LAMA2-CMD patient and family communities, which serve as a very important source of knowledge for affected individuals, their families and clinician-scientists.”
Dr. René de Coo (Paediatric neurologist – Maastricht University):
“An intriguing question. I know of only a few adults with LAMA2-RD that have had a neuropsychological test. As far as I can recall those individuals did not present any particular or evidently recognisable neuropsychological profile. (This may be due to the patient group being too small to reveal any such pattern).
As of yet, we do not know exactly what causes the hypo-intensity on CT. The general feeling is that it does not (tend to) influence cognition, behaviour or other cerebral functions.
Currently, in adults, it is not believed that seizures are linked to the the hypo-intensities seen on CT. In these adults we noticed in all cases a so called cortical migration disorder that can be missed on a brain CT. These cortical brain malformations differ from person to person but do seem to be related with LAMA2-RD. Depending upon their type and location, it is possible they might cause neuropsychological problems and epileptic seizures at later ages.
This is one of the many reasons why we need a natural history study on the one hand and on the other hand for a small subgroup of LAMA2-RD patients to undergo a focused investigation with brain-MRI and extensive neuropsychological tests to answer the question at stake.”
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