Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method.

Orphanet journal of rare diseases - 17 Nov 2020

Trang Ha, Bourgeois Pauline, Cheliout-Heraut Fawzia

Abstract excerpt

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the cases. A few previous studies have reported learning difficulties and neuropsychological disorders in patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to France
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Hypoventilation

Share to Quality of Life

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 33203435
DOI: 10.1186/s13023-020-01601-7
PMCID: PMC7670788

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method.PMID 33203435Read ↗

Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.Semantic proximity Read ↗

Neurocognitive functioning in individuals with congenital central hypoventilation syndrome.Semantic proximity Read ↗

Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®.Semantic proximity Read ↗

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Semantic proximity Read ↗

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Semantic proximity Read ↗

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.Semantic proximity Read ↗

A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation.Semantic proximity Read ↗

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.Semantic proximity Read ↗

Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case reportSemantic proximity Read ↗

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: diagnosis and management.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.