Breath-holding Spells Research Articles

The differential diagnosis of epilepsy: A critical review

The wrong diagnosis of epilepsy is common. At referral epilepsy centers, psychogenic non-epileptic attacks are by far the most common condition found to have been misdiagnosed as epilepsy, with an average delay of 7-10 years. There are many "red flags" that can raise the suspicion of psychogenic non-epileptic attacks. Syncope is the second most common condition misdiagnosed as epilepsy, and it is probably more common in outpatient populations. Other conditions more rarely misdiagnosed as epilepsy include hypoglycemia, panic attacks, paroxysmal movement disorders, paroxysmal sleep disorders, TIAs, migraines, and TGA. Conditions specific to children include nonepileptic staring spells, breath-holding spells, and shudder attacks. At all ages, the over-interpretation of EEGs plays an important part in the misdiagnosis of epilepsy.

Combined Tarsal and Carpal Tunnel Syndrome in Mucolipidosis Type III

Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from uridine 5'-diphosphate-N-acetylglucosamine: lysosomal hydrolase N-acetyl-1-phosphotransferase or UDP-GlcNAc 1-phosphotransferase deficiency. Clinical manifestations include developmental delay, short stature and other structural abnormalities. Less common clinical features, such as carpal tunnel syndrome, claw hand deformities, trigger fingers, and claw toes have previously been reported, but no specific association with tarsal tunnel syndrome has been reported in the literature. Tarsal tunnel syndrome is caused by entrapment of the posterior tibialis nerve in the tunnel formed by the medial malleolus of the ankle and the flexor retinaculum. It causes pain in the heel and sole of the foot as well as abnormal sensation in the distribution area of nervus tibialis posterior. In adults, the most common cause described is a ganglion. The phenomenon is rare in children and the published series are small. This case report portrays the presentation of a young girl with breath-holding spells secondary to painful bilateral tarsal tunnel syndrome and trigger fingers subsequently diagnosed with MLIII.

Spontaneous resolution of Chiari malformation Type I in monozygotic twins

The spontaneous resolution of isolated tonsillar ectopia in Chiari malformation Type I (CM-I) is a known and reported entity in 2 previous single study case reports. However, it has not been previously described in monozygotic twins. Two children, approximately 1 year of age with CM-I and presumed episodes of pallid syncope or breath-holding spells presented for neurosurgical evaluation. Although Chiari decompression was considered, the authors decided to proceed with conservative management with close follow-up due to the uncertain nature of these episodes. Approximately 4 years later, both children's symptoms had resolved. Repeated MR imaging examinations also showed spontaneous resolution of the malformation in both girls. These cases emphasize that when patients with CM-I present with atypical symptoms, spontaneous resolution or improvement is possible, which may influence the decision to pursue a trial of nonsurgical management. The possible pathophysiological mechanisms and genetic influences of CM-I are also briefly discussed.

Piracetam in Severe Breath Holding Spells

Breath holding spells (BHS) are apparently frightening events occurring in otherwise healthy children. Generally, no medical treatment is recommended and parental reassurance is believed to be enough, however, severe BHS can be very stressful for the parents and a pharmacological agent may be desired in some of these children. In this prospective study aim was to determine the usefulness of piracetam as prophylactic treatment for severe BHS. Children were recruited from Neurology Clinic in Children's Hospital, Islamabad between January 2002 to December 2004. Diagnosis of BHS was based on characteristic history and normal physical examination. Piracetam was prescribed to those children who were diagnosed as severe BHS in a dose ranging from 50-100 mg/kg/day. Iron supplements were added if hemoglobin was less than 10 gm%. Patients were seen at 2-4 weeks interval and follow-up was continued until 3 months after the cessation of drug therapy. Fifty-two children were enrolled in the study, 34 boys and 18 girls. Ages ranged from 4 weeks to 5 years with mean age of 17 months. In 81% of children, spells disappeared completely and in 9% frequency was reduced to less than one per month and of much lesser intensity. Prophylaxis was given for 3-6 months (mean 5) duration. Piracetam is an effective prophylactic treatment for severe BHS.

Ocular compression a century on: time for a thumbs‐off approach?

Auteur(s) : John BP Stephenson Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland This issue includes a study (Haneef et al. 2008) of simulated ocular compression (OC) by physicians who “routinely” performed OC during EEG examinations when syncopal episodes - including breath-holding spells - were suspected. The authors found that though each of those three physicians exerted a different range of pressure on a sphygmomanometer cuff when asked to use their [...]

Ocular compression pressure during EEG for the study of increased vagal reactivity

Ocular compression (OC) is a maneuver performed during EEG to demonstrate increased vagal reactivity in children with suspected syncope including breath-holding spells. We examined the relationship between the simulated OC pressure exerted by different physicians and the cardiac slowing responses that they had historically obtained as per EEG records. Simulated OC was performed by each physician using a sphygmomanometer. EEGs were reviewed for the rate of positive cardiac slowing per physician. Among three physicians who performed a total of 73 OC, the mean +/- SD of applied pressure were 29.0 +/- 2.4, 60.7 +/- 3.5 and 42.4 +/- 2.5 mmHg, respectively. There was good intra-physician consistency for the OC pressures exerted. The mean pressure exerted was significantly different between physicians (p < 0.001, ANOVA). The positive response rate for cardiac slowing among these physicians was 11/37 (29.7%), 10/21 (47.6%) and 8/15 (53.3%) respectively. The difference in positive OC responses between physicians was not significant (p = 0.127, chi-square). Higher OC pressures did not translate into more positive responses. A pressure of 30 mmHg is as good as 60 mmHg in demonstrating cardiac slowing during OC.

Temperamental traits of breath holding children: A case control study

Background:Clinical observation and few anecdotal reports suggest that the children with breath holding spells (BHS) have certain temperamental traits, which predispose them to behave in certain way. They seem to have low frustration tolerance, which leads to adamant behavior. Vigorous crying, through various mechanisms, precipitates BHS.Materials and Methods:We assessed the temperamental traits of 30 children with BHS and compared them with 30 normal children after matching for age, sex, and socioeconomic status. Temperament was measured using ‘Temperament measurement Schedule’.Results:The data were analyzed using Mann-Whitney U test. The following temperamental traits, threshold of responsiveness (P<0.001), mood (P<0.001), activity level (P<0.001), intensity of emotions (P<0.001), distractibility (P<0.001) and rhythmicity (P<0.05) were found to be significantly different from the control group. Two factors, namely sociability (P<0.05) and energy level (P<0.001) were significantly higher in breath holders.Conclusions:Significantly differing temperamental traits in breath holders suggests that these could influence the behavioral pattern exhibited by them. Breath holding spells can act as an easy marker for difficult temperamental traits, which gives an early opportunity to shape their difficult behavior.

Treatment of chronic breath-holding in an adult with severe mental retardation: A clinical case study.

Breath-holding spells, or BHS, are uncommon in children, observed in only 4.6% of the childhood population (DiMario, 2001). Individuals demonstrating breath-holding episodes may experience cyanosis and, in some cases, death resulting from complications related to loss of consciousness (Paulson, 1963). To date, no prevalence information is available concerning the occurrence of breath-holding spells in adults. Childhood occurrences of breath-holding typically dissipate before the age of 2, even when no treatment has been implemented (MedlinePlus, 2005). The U. S. National Library of Medicine (MedlinePlus, 2005) suggests that children typically engage in breath-holding as a response to fear, trauma, or some other startling event. Other research has also suggested that breath-holding in adults may result from other psychological conditions such as somataform disorder (Inagaki, et al., 2001). While the U. S. National Library of Medicine alludes to a psychological component (i.e., emotion) of breath-holding, recent research suggests an additional biomedical explanation. Specifically, Bhat and colleagues (2007) found 35 cases of anemia in a sample of 59 children exhibiting breath-holding spells. Both the anemic and non-anemic breath-holding children were given oral iron therapy for 12 weeks. Results of the study indicated a 77% reduction for the anemic breath holders, with only a 29% reduction for the non-anemic breath holders, suggesting a possible medical explanation for at least some cases of breath-holding. While these aforementioned psychological and medical conditions offer insight into what may have caused the initial breath-holding episodes, they do not explain the maintenance of breath-holding when these conditions are either (a) absent in the individual, or (b) ameliorated due to previous treatment. A plausible hypothesis for the maintenance of breath-holding episodes under such conditions may be that initial occurrences of breath-holding were reliably followed by certain social consequences in the individual's environment. Under this philosophical framework, the breath-holding individual may not necessarily be cognizant of his/her reasons for engaging in this behavior, but it may have been shaped or conditioned over time. In recent years, some researchers have begun speculating that breath-holding, in at least some individuals, may be under operant control (Kern, Mauk, Marder, & Mace, 1995; Richman, Lindauer, Crosland, McKerchar, & Morse, 2001; Singh, 1979). Thus, given the effective use of behavioral technologies, the operant relationships governing the occurrence of breath-holding may be modified with simple consequence-based procedures and/or antecedent manipulations. One of the first documented operant treatments for breath-holding was published by Singh in 1979. In this study, a 15 month old boy presented with severe breath-holding, which maintained even after medical and psychodynamic approaches to treatment. Singh's operant approach consisted of aromatic ammonia presented to the boy contingent upon breath-holding episodes. Following implementation of this procedure, the breath-holding behavior quickly reduced to zero levels and maintained over an additional year of observations. Despite this procedure's clear effect, its application in applied settings may be met with skepticism and low social validity due to its sole reliance on punitive consequences. Moreover, Singh's procedure did not reinforce or promote appropriate breathing, which would likely be more effective for long-term maintenance. Recent advances in behavioral technology have allowed clinicians to identify the possible maintaining functions of aberrant behavior. One such approach has been the use of systematic manipulations of environmental events conducted within a multi-element research design to quickly identify function while retaining experimental control during the assessment process (i. …

Correspondence on “Electroencephalography (EEG) With Ocular Compression in the Diagnosis of Breath-Holding Spells or Syncope”

Correspondence on “Electroencephalography (EEG) With Ocular Compression in the Diagnosis of Breath-Holding Spells or Syncope”

Cyanotic breath‐holding spells in children respond to adenotonsillectomy for sleep‐disordered breathing

Children with breath-holding (BH) spells may demonstrate sleep-disordered breathing (SDB) during polysomnography. We studied five young children with cyanotic spells retrospectively and found both SDB and a response to adenotonsillectomy. We therefore proceeded with a prospective investigation of treatment for SDB in children with comorbid cyanotic spells. Nineteen children with cyanotic BH spells were identified and enrolled in the prospective study. Parents chose either treatment or observation. Fourteen children underwent complete SDB evaluation and treatment trials while five selected observation only (control group). Sleep and sleep-surgery specialist evaluation and polysomnography revealed the presence of a narrow upper-airway and an abnormal respiratory disturbance index in all 14 children. Nasal CPAP was not successful, but adenotonsillectomy performed near 14 months of age eliminated SDB. BH spells were eliminated 1 month after surgery, while they persisted to the end of the study (24 months of age) in the control group. In conclusion, the presence of cyanotic BH should prompt investigation and polysomnography for possible SDB. Independent treatment of SDB may hasten resolution of BH spells in these cases.

Scotosensitive and Photosensitive Myoclonic Seizures in an Infant with Trisomy 13

We describe a male carrier of trisomy 13 with scotosensitive and photosensitive myoclonic seizures appearing at the age of 8 months and persisting until death at 20 months. The seizures consisted of massive myoclonic jerks induced both by switching the room light suddenly on or off or by IPS with a frequency of 1 s. Spontaneous seizures were absent. The child also presented from the same age with breath-holding spells. This is interesting because it represents a rare example of the co-occurrence of scotosensitive and photosensitive seizures. Furthermore, a possible association to locus on 13q31.3 has been reported for photosensitivity, while for scotosensitivity there is no previous genetic information.

Clinical Diagnosis of Syncopes (Including So-called Breath-Holding Spells) Without Electroencephalography or Ocular Compression

A recent article in this journal suggested that ocular compression during electroencephalography was useful in distinguishing "breath-holding spells and syncope" from epileptic seizures. The method proposed involved measurement of the RR interval on the simultaneously recorded electrocardiographic trace and determining both the absolute RR lengthening and the change in RR interval as compared with the baseline value. It is argued by the present author that this is not an appropriate way to come to a diagnosis in episodic loss of consciousness in children. It is pointed out that so-called "breath-holding spells" are reflex syncopes and that the diagnosis of reflex syncopes should be by clinical history, even if this means delaying the diagnosis until a future consultation. Published evidence on the nature and clinical diagnosis of reflex syncopes in infants and children is reviewed in depth. It is concluded that routine electroencephalography is not an appropriate investigation when the diagnosis of episodic loss of consciousness is in doubt and has the implicit danger of false positive "abnormality". Aside from scientific exploration of the developing autonomic nervous system, the only current indication for diagnostic ocular compression is to induce a syncope so that its nature may be better understood. Such a circumstance might be a history of an apparent reflex syncope but with atypical features, including prolonged post-syncopal unconsciousness such as might indicate epileptic absence status. Several additional investigations of a primarily cardiological nature may be indicated in some cases, but a wait-and-see policy is usually to be preferred.

Sudden death in Lesch-Nyhan disease

To increase awareness of sudden and unexpected death in Lesch-Nyhan disease (LND) and to explore its potential causes, we report the anteceding clinical features and laboratory evaluations of five males with LND who ultimately experienced sudden and unexpected death, along with three additional males who suffered serious respiratory events during life. The ages of patients ranged from 2 to 45 years. The cause of sudden death in LND appears to have a respiratory rather than a cardiogenic basis. All cases cannot be linked readily with a single respiratory process. Instead, different respiratory processes appear to operate in different cases. These may include aspiration, laryngospasm, central apnea, cyanotic breath-holding spells, and high cervical spine damage. Better recognition of these processes will help to guide appropriate workup and management that could include chest imaging, endoscopy of the airways, polysomnography, electroencephalogram, and brain and/or spine imaging.

Usefulness of Ocular Compression During Electroencephalography in Distinguishing BreathHolding Spells and Syncope From Epileptic Seizures

Episodes of syncope or breath-holding spells are often misdiagnosed as epileptic events. The purpose of this study was to assess the usefulness of an electroencephalogram (EEG) with ocular compression to distinguish breath-holding spells and syncope from epileptic seizures. A retrospective analysis was performed on the EEG records of all children on whom ocular compression was performed from 2000 to 2003. Data from 116 patients with a clinical diagnosis consistent with either syncope or breath-holding spells were compared with a group of 46 patients with epilepsy. The RR interval during ocular compression was significantly higher in syncope patients compared with patients with epilepsy (P < .005). Using 2 seconds of asystole as the cutoff, the sensitivity of ocular compression was 26%, with 100% specificity. The change in RR interval from baseline to ocular compression also distinguished patients with breath-holding spells and syncope from patients with epilepsy. Even a small increase of 0.5 seconds in the RR interval demonstrated a sensitivity of 46%, with a specificity of 98%. Ocular compression performed during an EEG is useful in distinguishing patients with breath-holding spells and syncope from those with epileptic seizures. A requirement of a 2-second period of asystole with ocular compression excludes many patients. Our data indicate that an RR interval increase of 0.5 seconds over baseline identifies additional patients with increased vagal tone. Prompt and accurate diagnosis of the etiology of loss of consciousness might preclude the need for further extensive and expensive evaluation and reduce patient and parental distress.

Parental Attitude of Mothers, Iron Deficiency Anemia, and Breath-Holding Spells

The aim of this study was to investigate the effect of family structure and the attitude of mothers on the development of breath-holding spells. The data of the Sociodemographic and Parental Attitude Research Instruments of 30 mothers of children with breath-holding spells and of 30 mothers of healthy children were compared. The subjects were also evaluated for iron deficiency anemia and by age-related developmental test. No significant difference was observed between the two groups in the results of the Sociodemographic and Parental Attitude Research Instruments. Iron deficiency anemia was found to be significantly higher in the group of mothers of children with breath-holding spells compared with the control group. This study suggests that iron deficiency anemia rather than behavioral or psychosocial problems of mothers plays a role in the development of breath-holding spells.

Seizure-like States

1. Kathryn McVicar, MD 1. Children’s Hospital at Montefiore Bronx, NY Seizure-like episodes resemble seizures, but are not true seizures. Breath-holding spells (BHS), tics, syncope, gastroesophageal reflux (GER), and sleep disturbances all may be mistaken for seizures, but important distinguishing features can help the clinician differentiate these entities from a true seizure. Like seizures, seizure-like states are paroxysmal events that have a discrete onset, ending, and return to baseline. The duration, frequency, and clinical characteristics are different for each entity and help the clinician distinguish among them, usually on the basis of history and physical examination, sometimes with the aid of additional diagnostic testing. Seizures are disturbances of the central nervous system characterized by phenomena that the patient cannot control, with or without a concurrent loss of consciousness. There may be major motor manifestations. The range of clinical seizures extends from subtle behavioral arrests (absence seizures) to the more obvious generalized tonic-clonic seizures. Generally, consciousness is lost, and the postictal period of drowsiness or decreased responsiveness following the episode often lasts 21/2 times the length of the actual paroxysm. If the paroxysm is momentary, a postictal period may not be identifiable. BHS are common, peaking in children between 2 and 3 years of age, although even infants may have them. Commonly, those who hold their breath outgrow their spells by 5 or 6 years of age. BHS are characterized by the child’s apparent inability to breathe, accompanied by a change in color, limpness, and collapse, followed briefly by a return to baseline. The duration usually is less than 1 minute. Generalized tonic movements from brief cerebral ischemia may accompany BHS, but do not imply any increased risk of epilepsy in the future. Clinically, BHS can be categorized as pallid or cyanotic. The parents often describe the child as becoming frustrated and crying prior to cyanotic episodes and having suffered minor trauma, …

Seizure-like States

Seizure-like States

BREATH-HOLDING SPELLS: AN ANALYSIS OF 43 CASES

Objective: Breath holding spells, very often misinterpreted as epileptic seizures, are most common in children aged 6 months to 6 years of age. In this investigation, we sought to prospectively document the natural history of breath holding spells (BHS) among children with cyanotic, pallid and mixed type BHS referred for neurological consultation. Materials & Methods: This was a cross-sectional study in which a total of 43 children (23 boys, 20 girls) with BHS, admitted to the out patient clinic of the Children's Hospital Medical Center, between Sept 1998 and June 1999, were enrolled. A structured interview was under taken at the time of initial consultation to confirm BHS and its type, associated phenomenon, family history, sex and age at initiation of spells. Laboratory, electroencephalographic and electrocardiographic tests were done. Results: Patients were between 1.7 and 42.8 months (mean age 18.4 months). In 76.8% of cases, BHS began during the first 12 months of age. Anger and pain were the most common triggering factors (65.1 %). A positive family history of BHS was identified in 51% and parental consanguinity was found in 30% of cases. The spells were cyanotic in 79.1% (34 children). 78% of cases were iron deficient and 53% of cases had iron deficiency anemia. Conclusion: The results of this study emphasize the role of genetic factors in BHS; measurement of hemoglobin and serum ferritin is recommended all such cases. Key words: Breath-holding spells, Iron deficiency, Anemia, Serum ferritin

EFFECTS OF ORAL IRON SUPPLEMENT ON BREATH-HOLDING SPELLS IN CHILDREN

Objectives: Breath holding spells are one of the most frequent and important diagnostic challenges in pediatrics. The aim of this study, conducted on pediatric patients referring to the pediatric neurology clinic in Hormozgan province, was to evaluate therapeutic effects of iron on breath holding spells Materials and Methods: 35 children (19 males and 16 females), aged between 3 to 60 months, with a history of breath-holding spells, were included in the trial. To obtain all relevant data a specifically designed questionnaire requiring information on sex, age, age of onset of spells, type of spells, frequency of attacks before and after treatment with oral iron supplement, and determinants of body iron stores was completed for all the patients, based on the mother's statements. The patients were treated by an oral iron preparation for three months. Results: The age of onset of spells ranged between 6 to 24 months. The cyanotic type of spell was detected in 31 children, the pallid type in 3, and the mixed type in one child. There were 14 children with iron deficiency anemia and 20 children with reduced iron stores. Just one child had a normal iron profile. Complete therapeutic response was documented in 24 children, good response in 9, and poor response in one and in one child no change in frequency of spells was seen. Conclusion: Although no significant therapeutic difference was seen in the different response groups, it seems that iron supplement may play an important role in reducing breath holding spells in children. Keywords: Iron, Breath holding spell, children, Iron deficiency Anemia

COMPARISON OF EPILEPTIC AND NONEPILEPTIC CASES WITH CENTROTEMPORAL SPIKES IN VIEW OF CLINICAL FINDINGS AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS

The morphological features of centrotemporal spike discharges (CTSD) and relationship of them with clinical diagnosis in cases with benign epilepsy of childhood with centrotemporal spikes (BECTS) and the other epileptic syndromes of childhood as well as some nonconvulsive neurological disorders were detected in the routine patient population who referred to the authors' EEG laboratory. Thirty-six cases (21 males, 15 females; 8 months–14 years old), in which awake and/or sleep EEGs revealed CTSD were included in this study. The cases were divided into two groups as epileptic and nonepileptic. The cases with seizure were divided into BECTS and the other epilepsies. Of the epileptic cases, 14 (38.8%) patients had typical rolandic seizures. In five cases, there were partial or secondary generalized seizures. Two cases had myoclonic seizures. In the nonepileptic group, there was mental retardation/behavioral disturbances in five cases; there were periodic syndromes of childhood such as migraine and equivalents of migraine in three cases; febrile convulsion in three cases, breath-holding spells in two cases, and primary enuresis nocturna in two cases. In the nonepileptic group, the discharges were significantly fewer than the other groups (p = .014). More frequent discharges occuring for shorter periods were more significantly observed in BECTS group (64%). Typically isolated spike and slow-waves in T3/T4 and C3/C4 location were significantly more common (86%) in rolandic epilepsy group (p = .01). The EEGs of cases with BECTS had more frequency in the cluster of discharges than the other groups (p = .018). Multifocal discharges were observed in 28.5% of cases with BECTS, in 20% of nonepileptic group, and in 71.4% of other epileptics in the trial. Although these epileptic and nonepileptic conditions have some differences in view of frequency and morphology and location, CTSDs could be manifested in the group without seizure. It was concluded that the similar focal abnormalities which could be seen in rolandic epilepsy may be observed in the other epileptic or nonepileptic disorders of childhood and this condition may be originated from the involvement of similar central structures.