Beyond Achondroplasia

Growing together with Clara

Sleep apnea – new reviews

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Searching about this very common theme around parents, but not that well understood, I found a recent article publish at the Journal of clinical sleep medicine, that has very explicit points about the subject.

A Three-Month-Old Achondroplastic Baby with both Obstructive Apneas and Central Apneas

by Lourdes M. DelRosso, M.D., Eduardo Gonzalez-Toledo, M.D., Ph.D., and Romy Hoque, M.D.

The highlights are:

1. Check figure 1 at the first page of the link (above). It´s a 3D CAT scan image of the baby´s head, where you can see the wider fontanelles (open spaces of the skull) and the narrowed cranial base.

Even without reading a diagnosis of the AHI (apnea/hypoapnea index) of this baby at age 3 months, it seems to have a mild apnea (unfortunately, Clara at this same age, had a diagnosis of severe AHI).

2. “Compression of the lower motor neurons innervating the respiratory muscles may result in obstructive apneas, while compression of the medullary respiratory centers may lead to central apnea”.

3. Obstructive apneas are thought to be associated with mid-face hypoplasia and reduction in the nasopharyngeal space

4. Management of SDB (sleep disordered breathing) with tonsillectomy/adenoidectomy or continuous positive airway pressure (CPAP) therapy has shown improvement in respiratory indices, arousal indices, oxygen saturation, and hypercapnia. Treatment of SDB may also have neurocognitive benefits in some patients. Oxygen supplementation has been used in premature babies or children with restrictive lung disease. Tracheostomy is effective in severe or emergent cases.

After some research, I observe that tonsillectomy/adenoidectomy is not always the solution for SDB. It seems that many parents of achondroplasic babies, are given “always” the same view: the surgical approach of removing tonsils and adenoids. Clara´s ENT had a different view: Clara had increased oropharynx tissues so removing tonsils or adenoids was meaningless. Clara did CPAP for 5 months (from 3 months old to 8/9 months old). Now her average night saturation without CPAP is around 97%.

5. Respiratory stimulants such as caffeine and doxapram, commonly used for apnea of prematurity and respiratory depression after anesthesia, could be a future treatment option in babies with achondroplasia, due to the stimulation of breathing on the medullary respiratory centers and carotid bodies; however, they have not been evaluated for use in this patient population.

6. The improvement in AHI may be attributed to maturity of the brainstem. Prior studies have demonstrated that SDB is more prevalent in infants younger than 12 weeks of age

7. It is the opinion of the authors that in a neurologically asymptomatic baby with achondroplasia, evaluation of apnea with a PSG (polysomnography) should be delayed until at least 6 months of age.

Key points:

  1. The American Academy of Pediatrics recommends that every infant with achondroplasia should be screened for CMC. The assessment should include a thorough neurologic history, physical, neuroimaging (CT or MRI), and polysomnography.
  2. Repeating neuroimaging should be considered for evaluation of hydrocephalus or symptoms of CMC (cervicomedullary decompression).
  3. SDB in patients with achondroplasia can include central apnea, obstructive apnea, and hypoventilation
  4. Treatment options for SDB in achondroplasia include: cervicomedullary decompression, tonsillectomy and adenoidectomy, CPAP, oxygen supplementation, and tracheostomy.
  5. Infants with achondroplasia will benefit from the intervention of a multidisciplinary team of pediatricians, geneticists, sleep medicine physicians, pulmonologists, neurologists, otolaryngologists, neuroradiologists, and neurosurgeons.

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