Mobile Divider Image

Mucolipidosis II, II/III and III a/b linked with sleep-disordered breathing

25 Jun, 2020

For years, families have recognized sleeping disorders are manifestations of Mucolipidosis (ML) II, II/III and III a/b. Still, there have been limited studies conducted and limited objective data. A recent longitudinal study out of Paris, France has now provided new insights around sleep-disordered breathing.

Patients of the Lysosomal Disease Center of Neckar Hospital were studied for sleep disorders and breathing difficulties from 2008-2012. A diagnosis of ML II a/B and III a/b patients was established by the measurement of plasma and/or fibroblast activity of the lysosomal enzymes.

The study included seven Mucolipidosis patients: five, ML II; one, ML II/III; and one, ML III. The patients were accompanied by one parent and were not put under sedation or required to be sleep-deprived. The scoring tools used to analyze the sleep-disordered breathing were adopted from the American Academy of Sleep Medicine and included the following, and interesting, scoring definitions:

  1. Obstructive apnea (OA)
  2. Obstructive sleep apnea (OSA)
  3. Central apnea (CA)
  4. Apnea-hypopnea index (AHI)
  5. Oxygen desaturation index (ODI)

With limited data (recorded and published), two patients, that described both with OSA, were treated with a continuous positive airway pressure (CPAP) machine. It is important to acknowledge this study observed 100% of all patients described with OSA characteristics. OSA is associated with behavioral and neurocognitive dysfunction in children and may have further destructive neurocognitive developmental delays. Since OSA is a constant manifestation in ML II, II/III, and III a/B children, sleep studies are crucial at the time of diagnosis. The use of CPAP or noninvasive ventilation machines could be effective treatments and provide a higher quality of life for those suffering from sleep- disordered breathing.

It is important to note that more longitudinal studies should be completed for ML III a/b, as only one patient was observed.

For more information, the article is cited:
Tabone, L., Caillaud, C., Amaddeo, A., Khirani, S., Michot, C., Couloigner, V., … Fauroux, B. (2019). Sleep‐disordered breathing in children with mucolipidosis. American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.61167