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1.
Acta Paediatr ; 113(2): 317-326, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37905418

RESUMO

AIM: Breath-holding spells (BHS) are common in children, but evidence-based clinical guidelines are lacking. We investigated a large population-based cohort of BHS patients, to propose a refined description of typical BHS and guidelines for its management. METHODS: In a cross-sectional retrospective study, patients diagnosed with BHS in Southern Sweden 2004-2018 were recruited. Disease characteristics and diagnostic data were collected from patient medical records. RESULTS: In total, 519 patients, mean age at diagnosis 19.8 ± 13.8 months with equal gender distribution, were included. In 48.3%, BHS had already been diagnosed after one spell. During spells, 78.0% of patients were unresponsive. For 71.5%, atonic, tonic, tonic-clonic or myoclonic seizures were reported, and 78.0% of patients had a spell lasting less than 1 min. Electroencephalography was conducted in 30.4% and Electrocardiography in 45.1%. Six children (3.8%) had a pathological electroencephalogram, four of which had concomitant epilepsy and only 0.9% of children had electrocardiogram findings suggesting pathology, none showing long QT syndrome. CONCLUSION: Children with BHS were frequently subjected to unnecessary diagnostic interventions. We characterise a typical presentation of BHS and propose a management-algorithm, which is expected to reduce unnecessary usage of electroencephalography and electrocardiography.


Assuntos
Eletrocardiografia , Convulsões , Criança , Humanos , Lactente , Pré-Escolar , Estudos Retrospectivos , Estudos Transversais , Eletroencefalografia
2.
BMC Neurol ; 22(1): 60, 2022 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-35172777

RESUMO

BACKGROUND: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. CASE PRESENTATION: We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene. He has frequent episodes of breath-holding accompanied by dystonic posturing with right leg extension and head turning without ictal EEG correlate. The breath-holding spells have been refractory to several medication trials including iron supplementation, acetazolamide, and desipramine. CONCLUSIONS: This case represents a more severe phenotype of Bainbridge-Ropers Syndrome than previously described with refractory breath-holding spells with dystonia, intractable epilepsy, and progressive cerebral/cerebellar atrophy. Breath-holding spells cause significant morbidity, are poorly understood, and have very limited treatment options.


Assuntos
Epilepsia Resistente a Medicamentos , Suspensão da Respiração , Criança , Deficiências do Desenvolvimento/genética , Epilepsia Resistente a Medicamentos/complicações , Epilepsia Resistente a Medicamentos/diagnóstico , Humanos , Masculino , Fenótipo , Fatores de Transcrição/genética
3.
Childs Nerv Syst ; 38(4): 813-816, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34212251

RESUMO

Breath-holding spells (BHS) are commonly observed in children as a result of an autonomic nervous system disorder triggered by crying, emotional distress, or pain. There are several types of BHS and cyanotic type is one of them. We encountered a case of 3-year-old girl who presented with a delayed adaptation period and BHS 2 weeks after an endoscopic third ventriculostomy (ETV). She experienced severe headache due to increased intracranial pressure (ICP) during the delayed adaptation period, which may have contributed to the onset of BHS. Management of BHS warrants treatment of the symptoms and removal of the causative factors; in our case, intensive pain control and resolution of the increased ICP after the adaptation period were effective. While BHS are usually described as a benign condition that improves spontaneously, we highlighted the importance of recognizing and monitoring atypical symptoms such as BHS in pediatric cases.


Assuntos
Doenças do Sistema Nervoso Autônomo , Ventriculostomia , Doenças do Sistema Nervoso Autônomo/complicações , Suspensão da Respiração , Criança , Pré-Escolar , Cianose , Feminino , Humanos , Lactente , Derivação Ventriculoperitoneal/efeitos adversos , Ventriculostomia/efeitos adversos
4.
BMC Med Genet ; 20(1): 76, 2019 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-31064337

RESUMO

BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52A2 and SLC52A3 genes. Clinical outcomes have been shown to be improved significantly by high-dose riboflavin supplementation. The aim of this study was to identify genetic causes and further evaluate the clinical course and response to riboflavin in a Chinese pedigree with BVVLS. CASE PRESENTATION: We report the novel compound heterozygous variants c.1328G>A p.(Cys443Tyr) and c.1022_1023insC p. (Leu341Profs*103) of SLC52A2 gene in a female proband who presented in our out-patient clinic at the age of one-year-old with progressive mental and motor regression, breath holding, and brain stem dysfunction including facial weakness, hearing loss, dysphagia. Following high-dose riboflavin supplementation, the respiratory insufficiency and mental, motor, and bulbar function improved. However, sensorineural hearing loss was not improved. The missense variant site was highly conserved. Both variants were not found in the population database gnomAD. The two variants were inherited from her mother and father, respectively. Both variants were predicted to be deleterious by Polyphen2, Mutation taster, and SIFT and were classified as likely pathogenic according to the ACMG guideline. CONCLUSIONS: Two novel pathogenic variations of SLC52A2 gene were firstly found from a Chinese pedigree with BVVLS. Clinical outcomes could be improved by early diagnosis and riboflavin supplementation.


Assuntos
Paralisia Bulbar Progressiva/genética , Perda Auditiva Neurossensorial/genética , Mutação , Receptores Acoplados a Proteínas G/genética , Sequência de Aminoácidos , China , Feminino , Humanos , Lactente , Masculino , Linhagem , Receptores Acoplados a Proteínas G/química , Homologia de Sequência de Aminoácidos
5.
J Electrocardiol ; 55: 116-119, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31152993

RESUMO

OBJECTIVE: Breath holding spells is a non-epileptic paroxysmal disease which is frequently seen in childhood. In this study, we aimed to investigate electrocardiographic atrial conduction and ventricular repolarization changes in children with breath holding spells. MATERIALS AND METHODS: We reviewed the electrocardiograms of 58 patients with breath holding spells who admitted to SBU Okmeydani SUAM Pediatric Cardiology Clinic between November 2018 and February 2019. QT, QTc (calculated with Bazett formula), T peak-end (Tp-e), QT dispersion (QTd), QTc dispersion (QTcd), Tp-e/QT ratio, Tp-e/QTc ratio, JT interval, JTc (calculated with Bazett formula), Tp-e/JT ratio, Tp-e/JTc ratio and P dispersion (Pd) were measured and compared with the control group of 44 healthy children. RESULTS: In the control and the case groups, mean QTd was 19.86 ms and 38.57 ms, QTcd was 28.34 ms and 58.03 ms, Tp-e/QT ratio was 0.16 and 0.26, Tp-e/QTc ratio was 0.11 and 0.17, JT interval was 204.09 ms and 224.52 ms, JTc value was 290.00 ms and 333.72 ms, Tp-e/JT ratio was 0.23 and 0.35, Tp-e/JTc ratio was 0.16 and 0.24, Pd was 29.32 ms and 40.53 ms respectively. Differences between two groups were statistically significant (p < 0,001). CONCLUSION: QTd, QTcd, Tp-e, Tp-e/QT ratio, Tp-e/QTc ratio, JT, JTc, Tp-e/JT, Tp-e/JTc ratio and Pd were increased significantly compared to healthy children. Based on the results, ventricular repolarization and atrial conduction were affected in patients with breath holding spells. These patients may be under the risk of developing rhythm disorders.


Assuntos
Suspensão da Respiração , Eletrocardiografia , Arritmias Cardíacas/diagnóstico , Criança , Átrios do Coração , Frequência Cardíaca , Humanos
6.
Acta Paediatr ; 107(4): 653-657, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29210110

RESUMO

AIM: This study assessed cardiac performance and iron in subjects aged 12-36 months with breath-holding spells (BHSs). METHODS: We consecutively recruited 40 subjects (55% male) experiencing BHSs from the general paediatric outpatients department at the Children's Hospital, Ain Shams University, Egypt, from 2015 to 2016. The 20 matched comparisons were mainly healthy siblings. The workup included iron levels and electrocardiograms. RESULTS: The age at the onset of BHSs was 5-24 months with a median monthly frequency of 13. Almost two-thirds of the patients had cyanotic spells, and one-third had pallid spells, lasting 25-90 seconds. Lower serum iron levels and higher QT dispersion and T-wave dispersion were recorded in patients than the comparison group, and 4.8% had dysrhythmia and bradycardia. We observed higher durations of bradycardia during attacks and higher occurrences of dysrhythmia during cyanotic spells, which were more frequent in patients with prolonged or frequent BHSs. CONCLUSION: Our study of patients aged 12-13 months supported the theory of autonomic dysfunction in BHSs. The ECG findings, especially in patients with prolonged or frequent spells, need to be studied further to evaluate the risk of life-threatening events. Iron deficiency may play a role in autonomic dysfunction in patients with BHSs.


Assuntos
Anemia Ferropriva/diagnóstico , Doenças do Sistema Nervoso Autônomo/sangue , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Suspensão da Respiração , Ferro/sangue , Anemia Ferropriva/complicações , Anemia Ferropriva/fisiopatologia , Doenças do Sistema Nervoso Autônomo/complicações , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Cianose/sangue , Cianose/fisiopatologia , Egito , Eletrocardiografia , Feminino , Humanos , Lactente , Masculino
7.
Cardiol Young ; 28(7): 922-927, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29747708

RESUMO

IntroductionPallid breath-holding spells are common and dramatic forms of recurrent syncope in infancy. They are very stressful despite their harmless nature and sometimes require treatment. OBJECTIVE: The objective of this study was to evaluate the efficacy of belladonna in severe breath-holding spells. METHODS: This is a multicentric, retrospective series involving 84 children with severe pallid breath-holding spells. Inclusion criteria were >1 pallid breath-holding spell with loss of consciousness, paediatric cardiology evaluation, and follow-up >6 months. In total, 45 patients received belladonna and 39 patients did not receive treatment, according to physician preference. RESULTS: Mean age was 11 months, ranging from 4 to 18 months, with 54% of males. Mean spell duration was 30 seconds (interquartile range 15, 60), and the frequency was four episodes per month (interquartile range 0.5, 6.5). Comparison of baseline characteristics between groups showed similar demographics, with the single difference in the severity of the spells, being more severe in the treated group. When comparing the treated and non-treated groups at 3 months, only two (5%) patients had a complete remission in the first group, whereas 20 (44%) had remission in the belladonna group (p<0.01). When considering the characteristics of the spells before and after the initiation of treatment with belladonna, 75% of the patients presented a positive response, with 44% of the patients presenting with complete resolution of the spells (p<0.01). No major adverse reaction was reported, with only 5% minor adverse events. CONCLUSIONS: Belladonna is highly effective to alleviate severe breath-holding spells in young children, without any major adverse effects.


Assuntos
Anemia Ferropriva/tratamento farmacológico , Alcaloides de Belladona/uso terapêutico , Ferro/uso terapêutico , Transtornos Respiratórios/tratamento farmacológico , Síncope/prevenção & controle , Anemia Ferropriva/complicações , Apneia/etiologia , Alcaloides de Belladona/efeitos adversos , Cianose/etiologia , Eletrocardiografia Ambulatorial , Feminino , Humanos , Lactente , Masculino , Transtornos Respiratórios/etiologia , Estudos Retrospectivos , Índice de Gravidade de Doença
8.
Pediatr Hematol Oncol ; 35(3): 186-195, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30351985

RESUMO

Aim: Frequent cyanotic breath holding spells cause fear and severe anxiety to parents. This study aimed to evaluate clinical, laboratory and treatment characteristics of children with cyanotic breath holding spells. Methods: Included were 180 children (mean age: 1.82 ± 0.53 years) with cyanotic breath holding spells. They were divided into three groups: with iron deficiency, with iron deficiency anemia and without iron deficiency. Blood hemoglobin (HB), ferritin and iron concentrations were measured at baseline and after 3 and 6 months of iron treatment. Results: The mean spell frequency was 24.57 ± 7.31/months, 83% had spells after the age of 1 year, 37% had daily spells, 16% had family history of spells, and 61% had Iron deficiency/Iron deficiency anemia (p = .001). No significant difference in the frequency of spells between children with iron deficiency and those with Iron deficiency anemia. Compared to patients without iron deficiency, there was significant reduction of spells frequency, increased hemoglobin, ferritin and iron levels after 3 and 6 months of iron therapy (p = .0001). Negative correlations were observed between spell frequency with hemoglobin (p = .001), ferritin (p = .0001) and iron (p = .001) levels. Conclusion: Not only Iron deficiency anemia but also iron deficiency alone without anemia is associated with a risk of high-frequency cyanotic breath holding spells. Iron therapy results in reduction in spells' frequency which was correlated with increasing ferritin and iron levels.


Assuntos
Anemia Ferropriva/tratamento farmacológico , Suspensão da Respiração , Cianose/etiologia , Ferro/uso terapêutico , Anemia Ferropriva/patologia , Pré-Escolar , Feminino , Humanos , Ferro/farmacologia , Masculino
9.
Acta Paediatr ; 105(9): 1088-93, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27060698

RESUMO

AIM: This study aimed to evaluate the concomitant occurrence and possible association of breath-holding spells (BHS) and transient erythroblastopenia of childhood (TEC). METHODS: This population-based cohort study, carried out in Southern Sweden from 2004 to 2014, included patients with BHS and/or anaemia, including TEC. The subjects were evaluated for the presence of all three conditions and the diagnostic workups, disease characteristics and outcome were analysed. RESULTS: We studied 443 470 children under the age of 10 years during 2004-2014. The total cohort included 321 patients (0.07%) with BHS and 366 patients with a selection of anaemia diagnoses, including 41 with TEC. We found that nine (2.5%) of the 366 patients with anaemia diagnoses also had BHS and that five (12.2%) of the 41 patients with TEC also had BHS. Treatment for anaemia resolved BHS in a number of patients. CONCLUSION: Our population-based analysis revealed an overrepresentation of BHS among children with TEC, and we identified five patients with concomitant TEC and BHS. We found that correcting anaemia was an effective means of ameliorating potentially debilitating BHS and that the presence of concomitant BHS and TEC was more common than previously assumed.


Assuntos
Anemia Hemolítica Congênita/fisiopatologia , Suspensão da Respiração , Anemia Hemolítica Congênita/sangue , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
10.
J Paediatr Child Health ; 52(5): 561-5, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27089451

RESUMO

AIM: This study aimed to identify differences in the antenatal stressful life events, parenting style, family functioning, depression and anxiety of mothers who have children with breath-holding spells (BHS) compared with controls. METHODS: This case control study divided 66 children into a group of children with BHS and a control group, with the children's ages ranging between 6 months and 5 years of age. This study explored underlying anxiety and depression in mothers as well as functioning of their families. Socio-demographical data and stressful life events that the mother experienced during pregnancy were analysed. In order to evaluate the effects of family structure, depression and anxiety in mothers on BHS in children, the Family Assessment Device, and both the Parental Attitude Research Instrument and the Beck Depression Inventory as well as the State-Trait Anxiety Inventory were used to assess both groups. RESULTS: Exposure to stressful life events during pregnancy (P < 0.001), depressive traits (P < 0.001), state-trait anxiety (P < 0.001), overprotective maternal characteristics (P = 0.027) and most of the family functioning subscales were found to be significantly different between BHS and control groups. CONCLUSIONS: The association of anxiety, depression, prenatal stressful events and poor family functioning in mothers who have children with BHS is significantly higher than controls. An evaluation of these problems may be beneficial in the management of BHS.


Assuntos
Ansiedade , Suspensão da Respiração , Depressão , Relações Familiares/psicologia , Relações Mãe-Filho/psicologia , Mães/psicologia , Poder Familiar/psicologia , Estresse Psicológico , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
11.
Epilepsy Behav ; 47: 34-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26021463

RESUMO

OBJECTIVE: Breath-holding spells are common paroxysmal events in children. Although the spells have a benign prognosis in the long term, they may be complicated by loss of consciousness, tonic-clonic movements, and occasionally seizures. Hence, this study aimed to measure the levels of serum S-100B proteins and neuropeptide-Y in the blood of children who experience breath-holding spells. METHODS: The study groups consisted of 45 patients (13 females, 32 males) with breath-holding spells and a control group of 32 healthy individuals (12 females, 20 males). The serum S-100B levels were measured using commercially available ELISA kits. The neuropeptide-Y levels in the serum were measured with RayBio® Human/Mouse/Rat Neuropeptide Y ELISA kits. RESULTS: The mean serum S-100B protein level of the breath-holding spells group was 56.38 ± 13.26 pg/mL, and of the control group, 48.53 ± 16.77 pg/mL. The mean neuropeptide-Y level was 62.29 ± 13.89 pg/mL in the breath-holding spells group and 58.24 ± 12.30 pg/mL in the control group. There were significant differences between the groups with respect to serum S-100B protein levels (p = 0.025), while there was no statistically significant difference in neuropeptide-Y levels between the breath-holding spells group and the control group (p = 0.192). CONCLUSIONS: The findings of this study suggest that frequent and lengthy breath-holding may lead to the development of neuronal metabolic dysfunction or neuronal damage which is most likely related to hypoxia. In light of these findings, future studies should be conducted using biochemical and radiological imaging techniques to support these results.


Assuntos
Neuropeptídeo Y/sangue , Respiração , Subunidade beta da Proteína Ligante de Cálcio S100/sangue , Convulsões/sangue , Estudos de Casos e Controles , Criança , Feminino , Humanos , Hiperventilação/diagnóstico , Hipóxia , Hipóxia Encefálica/complicações , Hipóxia Encefálica/fisiopatologia , Masculino , Convulsões/fisiopatologia
12.
J Paediatr Child Health ; 50(11): 916-9, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24923596

RESUMO

AIM: Iron deficiency anaemia (IDA), which is reported very commonly among patients with breath holding spells (BHS), is the most common presentation of coeliac disease (CD). In that aspect, IDA may be a common pathway linking these two diseases. The aim of this study was to evaluate the frequency of CD in patients with BHS. METHODS: We studied 348 children with BHS, and 470 age- and sex-matched controls with no known disease. Serological screening for CD was performed in all patients by searching for serum tissue transglutaminase immunoglobulin A. RESULTS: The first group consisted of 348 children with BHS (231 males, 117 females; mean age 2.23 ± 1.84 years), and the second group consisted of 470 healthy children (284 males, 186 females; mean age 2.11 ± 1.98 years). A total of 300 (86.2%) patients had cyanotic type of BHS only, 27 (7.8%) had pallid type of BHS only and 21 (6%) had mixed type of BHS. The prevalence of IDA was statistically significantly higher in BHS patients compared with controls. Tissue transglutaminase immunoglobulin A was not detected as positive in any patients in either group; therefore, endoscopic and histopathological examinations were not performed. CONCLUSIONS: Our report is the first to describe the frequency of tissue transglutaminase immunoglobulin A positivity in patients with BHS. There was no evidence of a relationship between CD and BHS, but IDA seems to be an important risk factor in the development of BHS. Therefore, serological screening for CD in patients with BHS does not seem to be necessary.


Assuntos
Anemia Ferropriva/epidemiologia , Apneia/epidemiologia , Suspensão da Respiração , Doença Celíaca/epidemiologia , Imunoglobulina A/análise , Distribuição por Idade , Anemia Ferropriva/sangue , Anemia Ferropriva/diagnóstico , Apneia/sangue , Apneia/diagnóstico , Estudos de Casos e Controles , Doença Celíaca/diagnóstico , Criança , Pré-Escolar , Comorbidade , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , Estudos Prospectivos , Distribuição por Sexo
13.
Ital J Pediatr ; 50(1): 8, 2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38238792

RESUMO

BACKGROUND: Breath holding spells (BHS) are an important non-epileptic condition that is common in childhood and causes concern to families. YouTube is a powerful social media tool for accessing diseases and information such as BHS in child health. The aim of the study was to measure of the quality and reliability levels of the videos published in English on BHS uploaded on YouTube. METHODS: The key words "infant", "cry", "breath holding spells", holding spells" and "breath spells" were searched on the YouTube on November 14, 2022, in this study. Along with the general features of the videos, their quality and reliability were evaluated according to the global quality score (GQS), mDISCERN score. RESULTS: Fifty-five videos were evaluated. The mDISCERN and GQS scores of the videos in the useful group were higher than those in the misleading group (p < 0.001, p < 0.001). In the useful group, 87.5% of academic institutions and 93.3% of medical doctors (MDs) uploaded high-score GQS videos, while this rate was 16.7% in independent users (p = 0.005). The positive correlation was found between mDISCERN and GQS scores (p < 0.001). CONCLUSION: The majority of YouTube videos on BHS contained useful information with sufficient quality. Professional associations such as universities and academic institutes need to produce better quality videos to provide families/users with more accurate and up-to-date information about BHS. We emphasize that YouTube should analyse videos published in the field of health, especially in the field of pediatrics, such as BHS, with committees consisting of expert health professionals, and publish them after evaluation. YouTube should consider collaborating with professional pediatrics health organizations such as American Academy of Pediatrics (AAP), academic institutes and universities in the field of BHS to produce high-quality videos.


Assuntos
Suspensão da Respiração , Mídias Sociais , Humanos , Criança , Reprodutibilidade dos Testes , Saúde da Criança , Pessoal de Saúde
14.
Pediatr Neurol ; 148: 32-36, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37651975

RESUMO

BACKGROUND: Piracetam is the most widely used drug in breath-holding spells (BHS); however, its efficacy might not be satisfying to parents. This study aimed to compare the efficacy of docosahexaenoic acid (DHA) plus piracetam with piracetam alone in reducing the frequency and severity of BHS in infants and preschool children. METHODS: This randomized clinical trial included two groups diagnosed with BHS. Group I included 50 patients who received DHA plus piracetam. Group II (control group) included 50 children who were managed with piracetam plus a placebo. Children were re-evaluated at one, three, and six months after treatment. Occurrences of BHS and drug side effects were recorded. The primary outcome was to evaluate the effect of the combined treatment of piracetam and DHA on the frequency and severity of spells. RESULTS: BHS were reported in only 16% of children six months after treatment with piracetam and DHA compared with 50% of those treated with piracetam only (P value = 0.001). CONCLUSION: DHA plus piracetam is more effective than piracetam alone in decreasing the frequency and severity of BHS in children.


Assuntos
Piracetam , Lactente , Pré-Escolar , Humanos , Piracetam/farmacologia , Piracetam/uso terapêutico , Ácidos Docosa-Hexaenoicos/farmacologia , Suspensão da Respiração , Convulsões/tratamento farmacológico , Terapia Combinada
15.
Cureus ; 15(12): e50659, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38143733

RESUMO

Background and objective Breath-holding spell (BHS) is a serious condition that affects healthy and normal children. It is a paroxysmal non-epileptic disorder and usually occurs after the child gets angry, annoyed, or aroused. In such a scenario, an episode of crying and silent expiration associated with color changes, either cyanosis or pallor, leads to loss of consciousness in the child. In Saudi Arabia, studies assessing the awareness among parents about BHS have been scarce. In light of this, this study aimed to evaluate the awareness of BHS among parents in Makkah, Saudi Arabia, in 2023. Methodology This was a cross-sectional study conducted between June and October 2023 by using Google Forms to collect data about awareness of risk factors of BHS among the general population in Makkah. We employed a validated and self-generated survey that was distributed through social media platforms. Results The study included 602 participants; 138 (22.9%) of them had witnessed BHS episodes. Of note, 407 (67.6%) thought that there was a connection between BHS and iron deficiency anemia. A significant majority (n=565, 93.9%) mentioned that spells can lead to passing out and seizures, and 542 (90%) thought that spells are dangerous. The majority (n=479, 79.6%) reported that the actions required during spells involve laying the child on the floor, keeping the child away from anything sharp, staying with the child, and calling 911 if the child remains blue or is not breathing for longer than a minute. The most common source of information for the participants was the Ministry of Health (n=182, 30.2%). Conclusions This study found a generally low level of awareness among parents regarding several aspects of BHS. Hence, we recommend conducting educational campaigns to ensure parents have accurate information about BHS so that they can respond appropriately to its occurrence in children.

16.
Iran J Child Neurol ; 17(4): 45-54, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38074927

RESUMO

Objectives: Breath holding spells (BHS) are a type of syncope in children that is commonly seen in the first years of life. Although these attacks do not cause serious damage to the child's brain, in severe or repeated cases, they expose the brain to hypoxia and cause a lot of stress in parents. In these cases, the clinician should consider therapy. The purpose of this study is to investigate the effectiveness of Risperidone in the treatment of BHS in children visiting the neurology clinic of the Children's Medical Center Hospital. Materials & Methods: In this randomized clinical trial, the statistical population included patients with the history of Breath Holding spells grades 2 to 3 (after ruling out of seizure disorders) over one year old, visiting the neurology clinic of Tehran Children's Medical Center in 2019. The subjects were randomly selected from patients visiting the clinic using a table of random numbers from the admit ion list. After providing the necessary explanations and obtaining informed consent from their parents, they were treated with low-dose Risperidone (maximum 1 mg) for three months. The patients were observed for three months in terms of frequency and severity of spells monthly. Results: In this study, the median (25th and 75th percentile) age of subjects was 2.3 (2.0-2.6) years. Both the number and severity of seizures in the subjects had a statistically significant decrease in the period after treatment with Risperidone (P<0.001). The studied boys and girls experienced statistically significant decrease in terms of both the frequency of spells (P-value of 0.002 and 0.039) and intensity of seizures (P=0.016) and P=0.008), respectively after treatment with Risperidone. Also, in the studied children under 2 years old and over 2 years old, both the frequency (P=0.021 and P=0.004) and intensity of spells (P=0.008) 0.016 for subjects under and over 2 years, respectively) had a statistically significant decrease after treatment with risperidone compared to pretreatment. Conclusion: According to the results of this study, it seems that both the frequency and the intensity of spells in children (regardless of gender and age group), experienced a statistically significant decrease after treatment with Risperidone. We suggest conducting a more comprehensive study considering a larger sample size in order to estimate this issue more correctly.

17.
J Investig Med High Impact Case Rep ; 10: 23247096211066281, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35277097

RESUMO

Breath-holding spells are common in childhood and can be associated with bradycardia and pulselessness. This report details severe breath-holding spells complicating postoperative management after atrial septal defect closure. The patient required cardiopulmonary resuscitation despite the use of a temporary pacemaker to prevent bradycardia. After multiple episodes of chest compressions, the decision was made to not intervene immediately to pulselessness and the patient was able to recover without further intervention.


Assuntos
Reanimação Cardiopulmonar , Marca-Passo Artificial , Bradicardia/etiologia , Bradicardia/terapia , Suspensão da Respiração , Ponte Cardiopulmonar , Humanos
18.
Brain Dev ; 43(2): 348-351, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32988679

RESUMO

BACKGROUND: The medical treatment for severe pallid breath-holding spells accompanied with severe bradycardia or transient cardiac arrest is controversial. Although various medications have been reported to be effective, patients treated with pacemaker insertion are not always evaluated for pharmacological therapy beforehand. CASE REPORT: A 9-month-old boy developed pallid breath-holding spells. At 15 months of age, a Holter electrocardiogram revealed 12 s of asystole during a breath-holding spell. Treatment with low-dose theophylline sustained-release dry syrup (5.3 mg/kg/day) led to complete control of the spells. The peak concentration of theophylline was 4.4 µg/mL which was below the therapeutic range for bronchial asthma. When he turned 3 years and 5 months of age, theophylline treatment was discontinued without recurrence of pallid breath-holding spells. DISCUSSION: Theophylline is now infrequently used to treat pediatric bronchial asthma due to its limited effect coupled with its side effects, which include headache, digestive symptoms, and theophylline-associated convulsions. The effectiveness of theophylline as a treatment for pallid breath-holding spells has been reported in several reports. In our case, the theophylline dosage was approximately half the amount described in previous reports. CONCLUSIONS: In this case, low-dose theophylline was adequate in controlling the pallid breath-holding spells. Because theophylline-associated seizures are a major concern, we suggest an evaluation of low-dose theophylline for treating patients with severe pallid breath-holding spells without febrile convulsions or epilepsy before proceeding with permanent pacemaker insertion. Further development of preventive strategies for theophylline-associated seizures and characterization of patients who respond well to theophylline treatment is required.


Assuntos
Apneia/tratamento farmacológico , Suspensão da Respiração/efeitos dos fármacos , Teofilina/uso terapêutico , Relação Dose-Resposta a Droga , Parada Cardíaca/etiologia , Parada Cardíaca/fisiopatologia , Humanos , Lactente , Masculino , Convulsões/complicações , Síncope/etiologia , Síncope/fisiopatologia , Teofilina/administração & dosagem , Teofilina/metabolismo
19.
Clin Neurol Neurosurg ; 207: 106739, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34157509

RESUMO

BACKGROUND: Non-Epileptic Paroxysmal Events (NEPE) are common clinical manifestations in pediatric age presenting with dysfunction of motor and behavioral activity mimicking features of epileptic seizures. OBJECTIVE: To present and analyze number and clinical characteristic of a group of children/adolescents presenting with various types of NEPE; to compare clinical data of this group of NEPE affected children/adolescents with a group of children/adolescents affected by Epileptic Seizures (ES). METHODS: The retrospective study was conducted at the Pediatric Clinic of University of Catania, Catania, Italy, in a period ranging from January 2005 and January 2018. Two groups of children/adolescents, aged from 1 month to 15 years, were selected: 312 affected by NEPE and 192 by ES. Number and percentage of the single type of NEPE were reported. Then, demographic characteristics, clinical manifestations, duration of the events, time of diagnosis, and age of onset of each type of NEPE and ES affected children/adolescents were analyzed and compared. Results of statistical analysis of the data were carried out between ES and some type of NEPEs including Sandifer syndrome, breath-holding spells, paroxysmal tremors, vertigo, and syncope. RESULTS: Among the group of NEPE, vertigo, type of paroxysmal event clinically not classifiable, syncope, and Sandifer syndrome were the most common events; In the comparative analyzed samples, variability between NEPE and ES was found in the duration of the paroxysmal events, in number of episodes, in lag-time between the onset of symptoms and the diagnosis, and in age of onset. Analyzing clinical data of ES with some type of NEPE, statistical significant results were obtained in vertigo as regards the duration and average duration event, in paroxysmal tremors as number of events, in Sandifer syndrome as lag-time of diagnosis, and finally in all the types of NEPE as regards the age of onset, and loss of consciousness. CONCLUSIONS: Analyzing the clinical features of each type of NEPE differences with ES are found. However, globally considered diagnostic differences between NEPE and ES remain difficult, questionable, and unrealizable without the support of correct parental report, direct clinical observations, and video-EEG monitoring.


Assuntos
Discinesias/diagnóstico , Convulsões/diagnóstico , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
20.
Seizure ; 86: 123-128, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33607445

RESUMO

PURPOSE: The misdiagnosis of non-epileptic seizures (NES) as epilepsy is one of the most common pitfalls in neuropsychiatric practice. This study aimed to describe the percentage and types of NES among children who were referred for a diagnosis of epilepsy in Upper Egypt. METHODS: We recruited a total of 876 patients who were referred to Sohag University Hospital, a tertiary referral centre in Upper Egypt, for the evaluation of suspected epilepsy. Relevant methods for the diagnosis of epilepsy, including medical history and examination, EEG, video-EEG, laboratory investigations, and brain imaging, were performed for all study participants. RESULTS: Among the 876 patients who were referred for the diagnosis of suspected epilepsy during the period from June 2017 to October 2018, 171 patients (19.5 %) were diagnosed as having NES. In general, we found that NES in the paediatric age groups did not differ from that reported in various studies across several different populations. The most prevalent NES in our study was breath-holding spells (32.2 %), followed by syncope (17.5 %), psychogenic nonepileptic seizures (12.3 %), motor tics (9.9 %), and benign sleep myoclonus (7.6 %). Other less frequent NES included infantile masturbation (7 %), spasmus nutans (5.3 %), migraine (2.9 %), benign paroxysmal torticollis (2.9 %), night terrors (1.8 %), and shuddering attacks (0.6 %). CONCLUSION: Ideally, neurologists should not misdiagnose NES as epilepsy, and whenever the diagnosis of NES is uncertain, an accurate diagnosis should be made using long-term video-EEG monitoring, especially in younger paediatric patients.


Assuntos
Epilepsia , Criança , Diagnóstico Diferencial , Egito/epidemiologia , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Humanos , Transtornos Mentais , Convulsões/diagnóstico , Convulsões/epidemiologia
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