As is the case for virtually all uncommon or rare genetic disorders, the level of evidence for care recommendations in achondroplasia is generally low. No controlled or blinded studies of any sort are available. Very few prospective investigations have been published (such as [8, 9] and a few others). Most care suggestions are based on retrospective series of varying size, or anecdotal information that lacks any rigorous confirmation. Both retrospective studies of large populations and selective prospective studies are much needed. Nonetheless, something has to be recommended for the care of affected individuals. Not surprisingly, lack of rigorous studies also results in considerable variation in the recommendations that are made. Unfortunately, this is not terribly different from much of current medical care. Some of these uncertainties will yield to studies of larger populations, as have been initiated recently [10].
Somatosensory evoked potentials could be of considerable benefit in identifying infants at high risk. Early experience, however, suggested that most infants with achondroplasia showed abnormalities of somatosensory evoked potentials, and that it failed to discriminate between those at high risk and others [8]. However, other investigations suggest that there may be a role of evoked potentials in the assessment of the craniocervical junction in infants with achondroplasia [138,139,140]. Should any prospective studies of efficacy of evaluations be initiated in the future, somatosensory evoked potential testing should probably be included in such a protocol.
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