Witnessing the blossoming of cognition in a child is one of the great joys of being a parent. In what can only be described as a miracle of biology, a newborn goes from being a proverbial blank sheet into a thinking and walking being, capable of independent thought, joy, and gratitude.
By the time a child is of schooling age, the issue of whose child is brighter than the other becomes a matter of parental corridor gossip. However, the difference in exam performance is not necessarily a function of cognition; children can have perfect clinical cognition for their age and simply find some subjects more interesting than others.
Cognition—the ability to process the world and make sense of instructions, events, sequences of logic, etc—is one of those things most missed when absent and hardly appreciated when present. It is perhaps an evolutionary coping ability that parents are almost overwhelmingly optimistic that their infant will soon be able to speak, learn, and feel the world around them. However, when a rare neurological disorder such as Friedreich ataxia is diagnosed, this entire assumption is massively challenged.
Early Atrophy and Progressive Degeneration
“Friedrich ataxia is characterized by early atrophy of the posterior columns of the spinal cord, followed by progressive degeneration of the cerebellar dentate nuclei and their efferent fibers in the superior cerebellar pedunculi,” Naeije and colleagues wrote in BMC Neurology, “Variable alterations in cerebellar, pyramidal, visual, auditory and cognitive systems contribute over time to the progression of neurological impairment.”
Read more about Friedreich ataxia etiology
Much research has been devoted to understanding the motor, sensory, and gait disorders associated with Friedreich ataxia. This is perhaps because some deficits, such as motor and gait dysfunction (manifesting as a delayed ability to walk) are much more obvious in infants. They are also aspects of the disease that often cause the most anxiety because they are so very visible.
However, recent research indicates that Friedreich ataxia affects parts of the brain that can cause cognitive decline over time; this can then further progress into neurological impairment. The part of the brain most affected in causing cognitive deficits is the cerebellum and its efferent tracts. Nonetheless, preliminary studies on this subject suggest that any cognitive impairments in Friedreich ataxia are relatively minimal, making them easy to miss.
“Even if missed by classic screening tools, cognitive and affective impairments in [Friedreich ataxia] may influence the ability of individuals with [Friedreich ataxia] to study, work and develop intellectually and socially,” Naeije et al wrote. Hence, this domain of neurological function deserves full attention if we are to treat individuals with Friedreich ataxia holistically.
Naeije and colleagues conducted an extensive review and meta-analysis to explore cognitive changes in Friedreich ataxia, ultimately including 18 studies. The conclusion they arrived at was that patients with Friedreich ataxia suffer from significantly lower cognitive performance in 7 important domains: language, attention, executive, memory, visuospatial perception, emotion recognition, and social cognitive abilities.
However, the research team found that only a relatively small percentage of individuals understand the potential for cognitive disorders in Friedreich ataxia. Why is this the case? They arrived at a similar conclusion as ours: “A possible interpretation relates to the fact that cognitive disorders are considered relatively subtle and do not cause obvious functional impairment.”
An Often Overlooked Impediment
There is another explanation of why cognition has received little attention compared to other neurological deficits in individuals with Friedreich ataxia: the fear that recognizing this fact might impede a patient’s pathway toward a bright future in terms of schooling and work opportunities. This is defective logic, born in the bosom of fear–a belief that acknowledging a problem only makes it grow, when in fact what is brought out into the open can be dealt with professionally and with empathy.
Read more about Friedreich ataxia treatment
Granted, further studies are needed for us to understand the true scale of the impact of Friedreich ataxia on cognitive performance. Nonetheless, as physicians, we can begin by asking pertinent questions during consultations and asking patients to complete questionnaires assessing cognition. Physicians in the Western world have an arsenal of tools to help patients improve their cognitive performance, and it is our duty to emphasize to parents/caregivers that there is significant neuroplasticity when it comes to cognition, and proper therapy can achieve demonstrable results.
Parents/caregivers of a patient with Friedreich ataxia have much to worry about, not least the place in the world that the patient will occupy when older. It is our job as physicians to empathize with our patients, demonstrate support, and alleviate related symptoms as much as medically possible.
References
Naeije G, Schulz JB, Corben LA. The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis. BMC Neurol. 2022;22(1):97. doi:10.1186/s12883-022-02615-3
Bidzan-Bluma I, Lipowska M. Physical activity and cognitive functioning of children: a systematic review. Int J Environ Res Public Health. 2018;15(4):800. doi:10.3390/ijerph15040800
