Congenital central hypoventilation syndrome

Broader cognitive deficits revealed by parent controls

Frank A Zelko*, Tracey M. Stewart, Cindy D. Brogadir, Casey M. Rand, Debra E Weese-Mayer

*Corresponding author for this work

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)492-497
Number of pages6
JournalPediatric Pulmonology
Volume53
Issue number4
DOIs
StatePublished - Apr 1 2018

Fingerprint

Parents
Vocabulary
Intelligence
Population
Congenital central hypoventilation syndrome
Wechsler Scales
Intelligence Tests
Aptitude
Short-Term Memory
Siblings
Control Groups
Mutation
Research

Keywords

  • PHOX2B
  • autonomic nervous system
  • intelligence
  • neuropsychology

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

Cite this

Zelko, Frank A ; Stewart, Tracey M. ; Brogadir, Cindy D. ; Rand, Casey M. ; Weese-Mayer, Debra E. / Congenital central hypoventilation syndrome : Broader cognitive deficits revealed by parent controls. In: Pediatric Pulmonology. 2018 ; Vol. 53, No. 4. pp. 492-497.
@article{c7e615e4933d48dcb57288f9e9966edb,
title = "Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls",
abstract = "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.",
keywords = "PHOX2B, autonomic nervous system, intelligence, neuropsychology",
author = "Zelko, {Frank A} and Stewart, {Tracey M.} and Brogadir, {Cindy D.} and Rand, {Casey M.} and Weese-Mayer, {Debra E}",
year = "2018",
month = "4",
day = "1",
doi = "10.1002/ppul.23939",
language = "English (US)",
volume = "53",
pages = "492--497",
journal = "Pediatric Pulmonology",
issn = "8755-6863",
publisher = "Wiley-Liss Inc.",
number = "4",

}

Congenital central hypoventilation syndrome : Broader cognitive deficits revealed by parent controls. / Zelko, Frank A; Stewart, Tracey M.; Brogadir, Cindy D.; Rand, Casey M.; Weese-Mayer, Debra E.

In: Pediatric Pulmonology, Vol. 53, No. 4, 01.04.2018, p. 492-497.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Congenital central hypoventilation syndrome

T2 - Broader cognitive deficits revealed by parent controls

AU - Zelko, Frank A

AU - Stewart, Tracey M.

AU - Brogadir, Cindy D.

AU - Rand, Casey M.

AU - Weese-Mayer, Debra E

PY - 2018/4/1

Y1 - 2018/4/1

N2 - 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.

AB - 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.

KW - PHOX2B

KW - autonomic nervous system

KW - intelligence

KW - neuropsychology

UR - http://www.scopus.com/inward/record.url?scp=85043984977&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85043984977&partnerID=8YFLogxK

U2 - 10.1002/ppul.23939

DO - 10.1002/ppul.23939

M3 - Article

VL - 53

SP - 492

EP - 497

JO - Pediatric Pulmonology

JF - Pediatric Pulmonology

SN - 8755-6863

IS - 4

ER -