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A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation
Robert Trobliger1, Charles M Zaroff, Richard H Grayson
1Neuropsychology, Northeast Regional Epilepsy Group, White Plains, New York, USA.
Abstract:
This study examines the neuropsychological profile of a boy with congenital central hypoventilation syndrome (CCHS) without a paired-like homeobox gene (PHOX2B) mutation. CCHS is a rare disorder of autonomic nervous system development characterized by an impaired ventilatory response to hypercarbia and hypoxemia. Mild intellectual deficits are common but a specific cognitive profile is not established in CCHS. We describe a nonverbal learning disorder as a CCHS endophenotype and recommend that detailed neuropsychological testing be performed on all individuals with CCHS. Defining the psycho-educational needs in CCHS may avert compounding the emotional and medical stresses of this already debilitating disorder.
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