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Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls
Author(s) -
Zelko Frank A.,
Stewart Tracey M.,
Brogadir Cindy D.,
Rand Casey M.,
WeeseMayer Debra E.
Publication year - 2018
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23939
Subject(s) - neurocognitive , wechsler adult intelligence scale , normative , population , cognition , intelligence quotient , congenital central hypoventilation syndrome , medicine , developmental psychology , psychology , psychiatry , clinical psychology , hypoventilation , philosophy , environmental health , epistemology , respiratory system
Objective To investigate neurocognitive deficits in children with Congenital Central Hypoventilation Syndrome (CCHS) by comparing them to their parents, since parents comprise a particularly suitable control group matched on disease‐extrinsic factors that can influence neurocognitive functioning. We compared CCHS patients to their parents and to population norms, hypothesizing that they would obtain lower intelligence test scores than both groups. We also compared patient‐parent differences against patient‐normative differences, to determine whether the two analytic approaches would yield different results. Methods We administered an intelligence screening, the Shipley‐2, to 21 school‐aged patients (age 14.2 ± 5.5 years) with PHOX2B mutation‐confirmed CCHS and their parents. Patients also received detailed clinical intellectual assessments using the Wechsler scales. Results CCHS patients scored significantly below parents on Shipley‐2 indices of intelligence, vocabulary, and abstraction, with a trend for perceptual reasoning. The CCHS patients scored significantly below population norms on indices of abstraction and perceptual reasoning. Patient‐parent differences were significantly larger than patient‐normative differences for vocabulary scores. CCHS patients scored significantly below population norms on Wechsler indices of intelligence, perceptual reasoning, working memory, and processing speed. Conclusions CCHS may affect a broader range of cognitive abilities than previous research based on comparisons to population norms has indicated. Comparisons of CCHS children to their parents reveal deficits of vocabulary and abstract reasoning which have not been previously identified. A full understanding of the neurocognitive impact of CCHS requires comparisons between patients and other individuals such as friends, parents, or siblings who closely resemble them on disease‐extrinsic characteristics.