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Breath-holding Spells

MedGen UID:
105400
Concept ID:
C0476287
Sign or Symptom
Synonyms: BHS; BREATH-HOLDING SPELLS; Breath-holding spells
SNOMED CT: Breath holding attack (713013008); Breath holding spell (713013008)
 
Monarch Initiative: MONDO:0011861
OMIM®: 607578

Definition

The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone (Lombroso and Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario and Burleson, 1993; Dimario et al., 1998). [from OMIM]

Clinical features

From HPO
Loss of consciousness
MedGen UID:
52915
Concept ID:
C0041657
Finding
Loss of alertness and orientation to place and time.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Iron deficiency anemia
MedGen UID:
57668
Concept ID:
C0162316
Disease or Syndrome
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.

Professional guidelines

PubMed

Arslan M, Karaibrahimoğlu A, Demirtaş MS
Pediatr Int 2021 Nov;63(11):1344-1350. Epub 2021 Oct 28 doi: 10.1111/ped.14685. PMID: 33682275
Gonzalez Corcia MC, Bottosso A, Loeckx I, Mascart F, Dembour G, François G
Cardiol Young 2018 Jul;28(7):922-927. Epub 2018 May 11 doi: 10.1017/S1047951118000458. PMID: 29747708
Mocan H, Yildiran A, Orhan F, Erduran E
Arch Dis Child 1999 Sep;81(3):261-2. doi: 10.1136/adc.81.3.261. PMID: 10451402Free PMC Article

Recent clinical studies

Etiology

Villafane J, Miller JR, Glickstein J, Johnson JN, Wagner J, Snyder CS, Filina T, Pomeroy SL, Sexson-Tejtel SK, Haxel C, Gottlieb J, Eghtesady P, Chowdhury D
Pediatr Cardiol 2021 Feb;42(2):234-254. Epub 2021 Jan 2 doi: 10.1007/s00246-020-02498-6. PMID: 33388850
Hamed SA, Gad EF, Sherif TK
Pediatr Hematol Oncol 2018 Apr;35(3):186-195. Epub 2018 Oct 23 doi: 10.1080/08880018.2018.1491659. PMID: 30351985
Schunk PC, Ruttan T
Emerg Med Clin North Am 2018 May;36(2):305-321. Epub 2018 Feb 10 doi: 10.1016/j.emc.2017.12.005. PMID: 29622324
Tomoum H, Habeeb N, Elagouza I, Mobarez H
Acta Paediatr 2018 Apr;107(4):653-657. Epub 2017 Dec 22 doi: 10.1111/apa.14177. PMID: 29210110
Maayan C, Katz E, Begin M, Yuvchev I, Kharasch VS
Clin Pediatr (Phila) 2015 Feb;54(2):174-8. Epub 2014 Dec 23 doi: 10.1177/0009922814563512. PMID: 25539948

Diagnosis

Leung AKC, Leung AAM, Wong AHC, Hon KL
Curr Pediatr Rev 2019;15(1):22-29. doi: 10.2174/1573396314666181113094047. PMID: 30421679Free PMC Article
Goldman RD
Can Fam Physician 2015 Feb;61(2):149-50. PMID: 25676645Free PMC Article
Evans OB
Pediatr Ann 1997 Jul;26(7):410-4. doi: 10.3928/0090-4481-19970701-05. PMID: 9225356
Breningstall GN
Pediatr Neurol 1996 Feb;14(2):91-7. doi: 10.1016/0887-8994(96)00006-9. PMID: 8703234
DiMario FJ Jr
Am J Dis Child 1992 Jan;146(1):125-31. doi: 10.1001/archpedi.1992.02160130127035. PMID: 1736640

Therapy

Sato A, Oda Y, Asakai H
Brain Dev 2021 Feb;43(2):348-351. Epub 2020 Sep 26 doi: 10.1016/j.braindev.2020.09.004. PMID: 32988679
Gürbüz G, Perk P, Çokyaman T, Gürbüz ÖB
Turk J Med Sci 2019 Feb 11;49(1):230-237. doi: 10.3906/sag-1805-92. PMID: 30761881Free PMC Article
Leung AKC, Leung AAM, Wong AHC, Hon KL
Curr Pediatr Rev 2019;15(1):22-29. doi: 10.2174/1573396314666181113094047. PMID: 30421679Free PMC Article
Hamed SA, Gad EF, Sherif TK
Pediatr Hematol Oncol 2018 Apr;35(3):186-195. Epub 2018 Oct 23 doi: 10.1080/08880018.2018.1491659. PMID: 30351985
Kanter RJ
Curr Opin Cardiol 1993 Jan;8(1):119-27. doi: 10.1097/00001573-199301000-00015. PMID: 10148090

Prognosis

Khalilian MR, Tofighi S, Attar EZ, Nikkhah A, Hajipour M, Ghazavi M, Samimi S
Ann Noninvasive Electrocardiol 2024 Jan;29(1):e13093. Epub 2023 Nov 7 doi: 10.1111/anec.13093. PMID: 37935110Free PMC Article
Dilber B, Akbulut UE, Serin HM, Alver A, Menteşe A, Kolaylı CC, Cansu A
Klin Padiatr 2021 Jul;233(4):173-180. Epub 2021 Mar 10 doi: 10.1055/a-1369-9426. PMID: 33694152
Schunk PC, Ruttan T
Emerg Med Clin North Am 2018 May;36(2):305-321. Epub 2018 Feb 10 doi: 10.1016/j.emc.2017.12.005. PMID: 29622324
Maayan C, Katz E, Begin M, Yuvchev I, Kharasch VS
Clin Pediatr (Phila) 2015 Feb;54(2):174-8. Epub 2014 Dec 23 doi: 10.1177/0009922814563512. PMID: 25539948
Mocan H, Yildiran A, Orhan F, Erduran E
Arch Dis Child 1999 Sep;81(3):261-2. doi: 10.1136/adc.81.3.261. PMID: 10451402Free PMC Article

Clinical prediction guides

Khalilian MR, Tofighi S, Attar EZ, Nikkhah A, Hajipour M, Ghazavi M, Samimi S
Ann Noninvasive Electrocardiol 2024 Jan;29(1):e13093. Epub 2023 Nov 7 doi: 10.1111/anec.13093. PMID: 37935110Free PMC Article
Leung AKC, Leung AAM, Wong AHC, Hon KL
Curr Pediatr Rev 2019;15(1):22-29. doi: 10.2174/1573396314666181113094047. PMID: 30421679Free PMC Article
Hamed SA, Gad EF, Sherif TK
Pediatr Hematol Oncol 2018 Apr;35(3):186-195. Epub 2018 Oct 23 doi: 10.1080/08880018.2018.1491659. PMID: 30351985
Tomoum H, Habeeb N, Elagouza I, Mobarez H
Acta Paediatr 2018 Apr;107(4):653-657. Epub 2017 Dec 22 doi: 10.1111/apa.14177. PMID: 29210110
DiMario FJ Jr
Am J Dis Child 1992 Jan;146(1):125-31. doi: 10.1001/archpedi.1992.02160130127035. PMID: 1736640

Recent systematic reviews

Hecht EM, Layton MR, Abrams GA
Clin Pediatr (Phila) 2020 Jul;59(8):819-822. Epub 2020 Apr 13 doi: 10.1177/0009922820915893. PMID: 32281397

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