Autonomic Function in Children With Congenital Central Hypoventilation Syndrome and Their Families

O’Brien, Louise M.; Holbrook, Cheryl R.; Vanderlaan, Mary B.; Amiel, Jeanne; Gozal, David

doi:10.1378/chest.128.4.2478

Cited by 44 publications

(26 citation statements)

References 37 publications

(40 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…320 Recent data from the Framingham Heart Study demonstrate an independent relationship between the peripheral arterial tonometry ratio (the natural logarithm of the ratio of postdeflation to baseline pulse amplitude in the hyperemic finger divided by the same ratio in the contralateral finger) and male sex, BMI, total-to-highdensity lipoprotein cholesterol ratio, type 2 diabetes mellitus, smoking, and lipid-lowering therapy. 322 Few data are available in children, although with the use of this technique, abnormalities have been found in children with congenital central hypoventilation syndrome, 323 obstructive sleep apnea, 324 and type 1 diabetes mellitus. 325,326 Although this device shows promise and appears to be relatively operator independent, with good reproducibility in children, 325 a single finger cuff size may limit its usefulness in smaller children.…”

Section: Variability and Limitationsmentioning

confidence: 99%

Noninvasive Assessment of Subclinical Atherosclerosis in Children and Adolescents

Urbina

Williams²,

Alpert³

et al. 2009

Hypertension

554

274

View full text Add to dashboard Cite

Abstract-Deterioration in endothelial function and arterial stiffness are early events in the development of cardiovascular diseases. In adults, noninvasive measures of atherosclerosis have become established as valid and reliable tools for refining cardiovascular risk to target individuals who need early intervention. With limited pediatric data, the use of these techniques in children and adolescents largely has been reserved for research purposes. Therefore, this scientific statement was written to (1) review the current literature on the noninvasive assessment of atherosclerosis in children and adolescents, (2) make recommendations for the standardization of these tools for research, and (3) stimulate further research with a goal of developing valid and reliable techniques with normative data for noninvasive clinical evaluation of atherosclerosis in pediatric patients. Precise and reliable noninvasive tests for atherosclerosis in youth will improve our ability to estimate future risk for heart attack and stroke. Currently, large longitudinal studies of cardiovascular risk factors in youth, such as the Bogalusa and Muscatine studies, lack sufficient adult subjects experiencing hard outcomes, such as heart attack and stroke, to produce meaningful risk scores like those developed from Framingham data.

show abstract

Section: Variability and Limitationsmentioning

confidence: 99%

Noninvasive Assessment of Subclinical Atherosclerosis in Children and Adolescents

Urbina

Williams²,

Alpert³

et al. 2009

Hypertension

554

274

View full text Add to dashboard Cite

show abstract

“…It is most pronounced during nonrapid eye movement (NREM) sleep during which breathing is primarily controlled by the autonomic nervous system (ANS) (2). ANS dysfunction is a hallmark of CCHS, and clinical manifestations of the disease may include diminished heart rate variability and transient abrupt asystoles, decreased pupillary light response, esophageal dysmotility, breath-holding spells, reduced basal body temperature, sporadic profuse sweating, lack of perception of dyspnea, altered perception of anxiety, and a lack of physiological responsiveness to exercise and environmental stressors (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). Additionally, CCHS may also be associated with neural crest tumours and Hirschsprung's disease.…”

mentioning

confidence: 99%

Presentation and Treatment of Monozygotic Twins with Congenital Central Hypoventilation Syndrome

Amin

Riekstins²,

Al-Saleh³

et al. 2011

Canadian Respiratory Journal

View full text Add to dashboard Cite

Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.

show abstract

“…The mother has postural hypotension and chronic constipation, which may represent mild symptoms of autonomic nervous system dysfunction 313 , 14 Approximately 10-25% of cases of CCHS are due to inherited mutation, transmitted by asymptomatic carriers 2021 …”

Section: Discussionmentioning

confidence: 99%

Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review

Sandoval

Zaconeta

Margotto

et al. 2016

Revista Paulista de Pediatria (English Edition)

View full text Add to dashboard Cite

Objective:To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome.Case description:Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis.Comments:This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.

show abstract

Autonomic Function in Children With Congenital Central Hypoventilation Syndrome and Their Families

Cited by 44 publications

References 37 publications

Noninvasive Assessment of Subclinical Atherosclerosis in Children and Adolescents

Noninvasive Assessment of Subclinical Atherosclerosis in Children and Adolescents

Presentation and Treatment of Monozygotic Twins with Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review

Contact Info

Product

Resources

About