Abstract
BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation. CCHS is associated with compromised brain development and neurocognitive functioning. Studies that evaluate cognitive skills in CCHS are limited, and no study has considered cognitive abilities in conjunction with psychosocial and adaptive functioning. Moreover, the roles of pertinent medical variables such as genetic characteristics are also important to consider in the context of neurocognitive functioning.MethodsSeven participants with CCHS ranging in age from 1 to 20 years underwent neuropsychological evaluations in a clinic setting.ResultsNeurocognitive testing indicated borderline impaired neurocognitive skills, on average, as well as relative weaknesses in working memory. Important strengths, including good coping skills and relatively strong social skills, may serve as protective factors in this population.ConclusionCCHS was associated with poor neurocognitive outcomes, especially with some polyalanine repeat expansion mutations (PARMS) genotype. These findings have important implications for individuals with CCHS as well as medical providers for this population.
Highlights
Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation
Relationship between intelligence quotient (IQ) scores and PARMs On average, intellectual functioning fell in the borderline impaired range (M = 72.33, standard deviation (SD) = 22.36)
Among the three participants with the 20/25 genotype, a clear relationship emerged between need for ventilatory support and IQ, such that 24 hour/day support was associated with IQ in the impaired range, partial support was associated with low average IQ, and no ventilatory support was associated with average IQ
Summary
Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation. Studies that evaluate cognitive skills in CCHS are limited, and no study has considered cognitive abilities in conjunction with psychosocial and adaptive functioning. The roles of pertinent medical variables such as genetic characteristics are important to consider in the context of neurocognitive functioning. Macdonald et al BMC Pediatrics (2020) 20:194 abnormalities in CCHS patients [8,9,10], only a handful of studies have examined neurocognitive functioning [11,12,13,14,15]. Studies that consider psychosocial outcomes, including emotional and behavioral symptoms as well as adaptive skills, are limited [8, 12]. In order to better inform medical, psychological, and educational interventions for this population, it is important to characterize these aspects of neuropsychological functioning
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