U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Apnea, central sleep

MedGen UID:
99249
Concept ID:
C0520680
Disease or Syndrome
Synonym: SLEEP APNEA, LETHAL CENTRAL
 
HPO: HP:0010536
OMIM®: 107640; 207720

Definition

Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. [from HPO]

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVApnea, central sleep

Conditions with this feature

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
MedGen UID:
1385307
Concept ID:
C4479246
Disease or Syndrome
CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures.
Trichohepatoneurodevelopmental syndrome
MedGen UID:
1648322
Concept ID:
C4748898
Disease or Syndrome
Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).
Hao-Fountain syndrome
MedGen UID:
1719035
Concept ID:
C5393908
Disease or Syndrome
Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging (summary by Fountain et al., 2019).
Developmental and epileptic encephalopathy 100
MedGen UID:
1809351
Concept ID:
C5676932
Disease or Syndrome
Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
MedGen UID:
1823986
Concept ID:
C5774213
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is characterized by global developmental delay apparent from infancy. Affected individuals show severe hypotonia with delayed walking or inability to walk, poor or absent speech, and impaired intellectual development with behavioral abnormalities. Most patients have early-onset seizures, mild skeletal defects that are usually distal, and nonspecific dysmorphic features. More severely affected individuals have additional congenital abnormalities; however, cardiac involvement is rare (summary by Rodan et al., 2021).
Neurodevelopmental disorder with speech impairment and with or without seizures
MedGen UID:
1824025
Concept ID:
C5774252
Disease or Syndrome
Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) is a phenotypically heterogeneous neurologic disorder whose severity appears to depend on the functional effect of the CACNA1I mutation. Severely affected individuals present in infancy with profound global developmental delay, hypotonia, delayed or absent walking, absent speech, feeding difficulties, cortical visual impairment, and onset of hyperexcitability and seizures in the first months or years of life. They achieve little or no developmental progress and may be tube-fed. Mutations in these individuals occurred de novo. In contrast, a milder phenotype associated with an inherited mutation has been found in a family with mild to moderate cognitive impairment and mild speech delay, usually without seizures (El Ghaleb et al., 2021).
Congenital disorder of deglycosylation 1
MedGen UID:
989503
Concept ID:
CN306977
Disease or Syndrome
Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.

Professional guidelines

PubMed

Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS
Pediatrics 2020 Jun;145(6) doi: 10.1542/peds.2020-1010. PMID: 32457214
Baillieul S, Revol B, Jullian-Desayes I, Joyeux-Faure M, Tamisier R, Pépin JL
Expert Rev Respir Med 2019 Jun;13(6):545-557. Epub 2019 Apr 24 doi: 10.1080/17476348.2019.1604226. PMID: 31014146
Eckert DJ, Jordan AS, Merchia P, Malhotra A
Chest 2007 Feb;131(2):595-607. doi: 10.1378/chest.06.2287. PMID: 17296668Free PMC Article

Recent clinical studies

Etiology

Schaefer J, Davey MJ, Nixon GM
J Clin Sleep Med 2022 Apr 1;18(4):1055-1061. doi: 10.5664/jcsm.9788. PMID: 34870583Free PMC Article
Scalzitti NJ, Sarber KM
Paediatr Anaesth 2018 Nov;28(11):940-946. Epub 2018 Oct 3 doi: 10.1111/pan.13506. PMID: 30281185
Yayan J, Rasche K
Adv Exp Med Biol 2015;873:15-23. doi: 10.1007/5584_2015_163. PMID: 26269028
Russell T
Semin Respir Crit Care Med 2014 Oct;35(5):604-12. Epub 2014 Oct 29 doi: 10.1055/s-0034-1390070. PMID: 25353105
Mookadam F, Calvin AD, Somers VK
Curr Heart Fail Rep 2008 Dec;5(4):233-7. doi: 10.1007/s11897-008-0035-8. PMID: 19032919

Diagnosis

Schaefer J, Davey MJ, Nixon GM
J Clin Sleep Med 2022 Apr 1;18(4):1055-1061. doi: 10.5664/jcsm.9788. PMID: 34870583Free PMC Article
Abel F, Tahir MZ
Childs Nerv Syst 2019 Oct;35(10):1763-1768. Epub 2019 Aug 1 doi: 10.1007/s00381-019-04302-0. PMID: 31372737
Scalzitti NJ, Sarber KM
Paediatr Anaesth 2018 Nov;28(11):940-946. Epub 2018 Oct 3 doi: 10.1111/pan.13506. PMID: 30281185
Yayan J, Rasche K
Adv Exp Med Biol 2015;873:15-23. doi: 10.1007/5584_2015_163. PMID: 26269028
Al-Jawder SE, Bahammam AS
Sleep Breath 2012 Jun;16(2):295-304. Epub 2011 Mar 29 doi: 10.1007/s11325-011-0513-1. PMID: 21445659

Therapy

Scalzitti NJ, Sarber KM
Paediatr Anaesth 2018 Nov;28(11):940-946. Epub 2018 Oct 3 doi: 10.1111/pan.13506. PMID: 30281185
Yayan J, Rasche K
Adv Exp Med Biol 2015;873:15-23. doi: 10.1007/5584_2015_163. PMID: 26269028
Russell T
Semin Respir Crit Care Med 2014 Oct;35(5):604-12. Epub 2014 Oct 29 doi: 10.1055/s-0034-1390070. PMID: 25353105
Mookadam F, Calvin AD, Somers VK
Curr Heart Fail Rep 2008 Dec;5(4):233-7. doi: 10.1007/s11897-008-0035-8. PMID: 19032919
Javaheri S
Semin Respir Crit Care Med 2005 Feb;26(1):44-55. doi: 10.1055/s-2005-864206. PMID: 16052417

Prognosis

Schaefer J, Davey MJ, Nixon GM
J Clin Sleep Med 2022 Apr 1;18(4):1055-1061. doi: 10.5664/jcsm.9788. PMID: 34870583Free PMC Article
Li S, Xu L, Dong X, Zhang X, Keenan BT, Han F, Bi T, Chang Y, Yu Y, Zhou B, Pack AI, Kuna ST
J Clin Sleep Med 2021 Jul 1;17(7):1453-1463. doi: 10.5664/jcsm.9224. PMID: 33688828Free PMC Article
Coniglio AC, Mentz RJ
Heart Fail Clin 2020 Jan;16(1):45-51. Epub 2019 Oct 29 doi: 10.1016/j.hfc.2019.08.009. PMID: 31735314
Javaheri S
Semin Respir Crit Care Med 2005 Feb;26(1):44-55. doi: 10.1055/s-2005-864206. PMID: 16052417

Clinical prediction guides

Schaefer J, Davey MJ, Nixon GM
J Clin Sleep Med 2022 Apr 1;18(4):1055-1061. doi: 10.5664/jcsm.9788. PMID: 34870583Free PMC Article
Li S, Xu L, Dong X, Zhang X, Keenan BT, Han F, Bi T, Chang Y, Yu Y, Zhou B, Pack AI, Kuna ST
J Clin Sleep Med 2021 Jul 1;17(7):1453-1463. doi: 10.5664/jcsm.9224. PMID: 33688828Free PMC Article
Yayan J, Rasche K
Adv Exp Med Biol 2015;873:15-23. doi: 10.1007/5584_2015_163. PMID: 26269028
Correia S, Martins V, Sousa L, Moita J, Teixeira F, Dos Santos JM
Rev Port Pneumol (2006) 2015 May-Jun;21(3):132-7. Epub 2015 Mar 9 doi: 10.1016/j.rppnen.2014.08.005. PMID: 25926251

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...