MCID: BRT055
MIFTS: 35

Breath-Holding Spells

Categories: Respiratory diseases

Aliases & Classifications for Breath-Holding Spells

MalaCards integrated aliases for Breath-Holding Spells:

Name: Breath-Holding Spells 58
Bhs 58
Bhy 17

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
involuntary and nonvolitional phenomenon
onset 6 to 12 months
variable frequency (daily to monthly)
mean age at termination 3 to 4 years
distinctive and stereotyped sequence of events
provoked by crying or emotional upset


HPO:

33
breath-holding spells:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Breath-Holding Spells

OMIM : 58 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). (607578)

MalaCards based summary : Breath-Holding Spells, also known as bhs, is related to band heterotopia and iron metabolism disease. An important gene associated with Breath-Holding Spells is NPY (Neuropeptide Y), and among its related pathways/superpathways is Neuroscience. The drugs Sodium Citrate and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and brain, and related phenotypes are behavioral abnormality and pallor

Wikipedia : 77 Breath-holding spells (BHS) are the occurrence of episodic apnea in children, possibly associated with... more...

Related Diseases for Breath-Holding Spells

Graphical network of the top 20 diseases related to Breath-Holding Spells:



Diseases related to Breath-Holding Spells

Symptoms & Phenotypes for Breath-Holding Spells

Human phenotypes related to Breath-Holding Spells:

33
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 33 HP:0000708
2 pallor 33 HP:0000980
3 iron deficiency anemia 33 HP:0001891
4 cyanosis 33 HP:0000961
5 loss of consciousness 33 HP:0007185

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
loss of consciousness
loss of postural tone
hypoxic convulsions

Respiratory:
breathing stopped in expiration after a deep inspiration during crying or emotional upset

Neurologic Behavioral Psychiatric Manifestations:
involuntary and nonvolitional phenomenon

Hematology:
associated with iron deficiency anemia

Skin Nails Hair Skin:
cyanosis during episodes
pallor during episodes

Clinical features from OMIM:

607578

Drugs & Therapeutics for Breath-Holding Spells

Drugs for Breath-Holding Spells (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 3 68-04-2
2
Caffeine Approved Phase 3 58-08-2 2519
3
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Phosphodiesterase Inhibitors Phase 3
5 Neurotransmitter Agents Phase 3
6 Central Nervous System Stimulants Phase 3
7 Citrate Phase 3
8 Purinergic P1 Receptor Antagonists Phase 3
9 Caffeine citrate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3 Caffeine citrate injection

Search NIH Clinical Center for Breath-Holding Spells

Genetic Tests for Breath-Holding Spells

Anatomical Context for Breath-Holding Spells

MalaCards organs/tissues related to Breath-Holding Spells:

42
Heart, Thyroid, Brain, Testes

Publications for Breath-Holding Spells

Articles related to Breath-Holding Spells:

(show top 50) (show all 152)
# Title Authors Year
1
Breath-Holding Spells in Pediatrics: A Narrative Review of the Current Evidence. ( 30421679 )
2019
2
"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum. ( 30685519 )
2019
3
Iron supplementation should be given in breath-holding spells regardless of anemia ( 30761881 )
2019
4
Atypical Cyanotic Breath-Holding Spells in an Infant With 16p11.2 Microdeletion Syndrome. ( 28664753 )
2018
5
Paediatric breath-holding spells are associated with autonomic dysfunction and iron deficiency may play a role. ( 29210110 )
2018
6
Efficacy of treatment with belladonna in children with severe pallid breath-holding spells. ( 29747708 )
2018
7
Iron deficiency and cyanotic breath-holding spells: The effectiveness of iron therapy. ( 30351985 )
2018
8
Current practice of BHS members in the treatment of osteonecrosis of the femoral head in adults. ( 28885643 )
2018
9
Cardiovascular Risk and the American Dream: Life Course Observations From the BHS (Bogalusa Heart Study). ( 29432134 )
2018
10
Psychometric properties and measurement invariance of the Beck hopelessness scale (BHS): results from a German representative population sample. ( 29699522 )
2018
11
Effect of iron supplementation in children with breath holding spells. ( 28568906 )
2017
12
Brain metabolite values in children with breath-holding spells. ( 28721046 )
2017
13
Evaluation of QT Dispersion in Children with Breath Holding Spells. ( 27057184 )
2016
14
Breath-holding spells occur disproportionately more often in children with transient erythroblastopenia. ( 27060698 )
2016
15
Parental attitude, depression, anxiety in mothers, family functioning and breath-holding spells: A case control study. ( 27089451 )
2016
16
Efficacy of a Brief Psychoeducational Intervention for Mothers of Children with Breath-Holding Spells: A Randomized Controlled Pilot Trial. ( 27128727 )
2016
17
Clinico-laboratory profile of breath-holding spells in children in Sohag University Hospital, Upper Egypt. ( 27279996 )
2016
18
The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells. ( 27751664 )
2016
19
Construct validity of the Beck Hopelessness Scale (BHS) among university students: A multitrait-multimethod approach. ( 26569465 )
2016
20
Abstracts from the 2016 Annual Scientific Meeting of the BHS. ( 27600030 )
2016
21
Pacemaker in complicated and refractory breath-holding spells: when to think about it? ( 24630493 )
2015
22
Treatment of cyanotic breath-holding spells with oral theophylline in a 10-year-old boy. ( 25008909 )
2015
23
Melatonin Can Be Used to Treat Childhood Breath-Holding Spells. ( 25117414 )
2015
24
Laughter is not always funny: breath-holding spells in familial dysautonomia. ( 25539948 )
2015
25
Breath-holding spells in infants. ( 25676645 )
2015
26
Case report of successful treatment of pallid breath-holding spells with glycopyrrolate. ( 25869368 )
2015
27
Breath Holding Spells in Children with Long QT Syndrome. ( 25916402 )
2015
28
Extracorporeal cardiopulmonary resuscitation for breath-holding spells followed by cardiac arrest due to left main coronary artery stenosis. ( 26012561 )
2015
29
Assessment of both serum S-100B protein and neuropeptide-Y levels in childhood breath-holding spells. ( 26021463 )
2015
30
Improved quality of life after treatment of prolonged asystole during breath holding spells with a cardiac pacemaker. ( 26085761 )
2015
31
Novel Findings in Breath-Holding Spells: A Cross-Sectional Study. ( 26181556 )
2015
32
Breath holding spells - a tale of 50 years. ( 26388629 )
2015
33
The evaluation of physiological and biochemical parameters and the autonomic nervous systems of children with breath-holding spells. ( 24338514 )
2014
34
Selenium and antioxidant levels decreased in blood of children with breath-holding spells. ( 24413362 )
2014
35
Breath-holding spells may be associated with maturational delay in myelination of brain stem. ( 24492453 )
2014
36
The value of neurologic and cardiologic assessment in breath holding spells. ( 24639832 )
2014
37
Frequency of coeliac disease in children with breath-holding spells. ( 24923596 )
2014
38
Increased oxidant status in children with breath-holding spells. ( 23250250 )
2013
39
Glycopyrrolate and theophylline for the treatment of severe pallid breath-holding spells. ( 23509162 )
2013
40
Breath holding spells: point prevalence and associated factors among Turkish children. ( 23782365 )
2013
41
Diverse presentation of breath holding spells: two case reports with literature review. ( 24191206 )
2013
42
Cardiac repolarization changes in the children with breath-holding spells. ( 24910749 )
2013
43
Double-blind, placebo-controlled trial on the effect of piracetam on breath-holding spells. ( 22302459 )
2012
44
Successful treatment of pallid breath-holding spells with fluoxetine. ( 22869831 )
2012
45
Effects of piracetam on pediatric breath holding spells: a randomized double blind controlled trial. ( 24665274 )
2012
46
Abstracts from the 2012 Annual Scientific Meeting of the BHS. ( 22971800 )
2012
47
Blue breath-holding spells caused by an alcoholic vitamin D3 preparation in infancy. ( 21457299 )
2011
48
Permanent cardiac pacing in a 2.5 month-old infant with severe cyanotic breath-holding spells and prolonged asystole. ( 22113764 )
2011
49
Validation of the Welch Allyn SureBP (inflation) and StepBP (deflation) algorithms by AAMI standard testing and BHS data analysis. ( 21412074 )
2011
50
Recurrent breath holding spells with infantile colic. ( 20228438 )
2010

Variations for Breath-Holding Spells

Expression for Breath-Holding Spells

Search GEO for disease gene expression data for Breath-Holding Spells.

Pathways for Breath-Holding Spells

Pathways related to Breath-Holding Spells according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 NPY S100B

GO Terms for Breath-Holding Spells

Biological processes related to Breath-Holding Spells according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 8.32 S100B

Molecular functions related to Breath-Holding Spells according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.62 NPY S100B

Sources for Breath-Holding Spells

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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