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A patient with systemic lupus erythematosus (SLE) developed attacks of unilateral cataplexy precipitated by laughter. Unilateral cataplexy has not been described previously in detail and its association with SLE is unique. The clinical details, investigations, and diagnostic criteria are discussed and a causal relationship between cataplexy and SLE is suggested.
The electrical activity of the triangularis sterni (transversus thoracis) muscle was studied in supine humans during resting breathing and a variety of respiratory and nonrespiratory maneuvers known to bring the abdominal muscles into action. Twelve normal subjects, of whom seven were uninformed and untrained, were investigated. The electromyogram of the triangularis sterni was recorded using a concentric needle electrode, and it was compared with the electromyograms of the abdominal (external oblique and rectus abdominis) muscles. The triangularis sterni was usually silent during resting breathing. In contrast, the muscle was invariably activated during expiration from functional residual capacity, expulsive maneuvers, "belly-in" isovolume maneuvers, static head flexion and trunk rotation, and spontaneous events such as speech, coughing, and laughter. When three trained subjects expired voluntarily with considerable recruitment of the triangularis sterni and no abdominal muscle activity, rib cage volume decreased and abdominal volume increased. These results indicate that unlike in the dog, spontaneous quiet expiration in supine humans is essentially a passive process; the human triangularis sterni, however, is a primary muscle of expiration; and its neural activation is largely coupled with that of the abdominals. The triangularis sterni probably contributes to the deflation of the rib cage during active expiration.
The present study describes the phenomenon of emotionalism in a sample of brain injured patients of mixed aetiology, with a view to identifying issues relevant to clinical management, and possible causal factors. 82 subjects with severe acquired brain injury undergoing rehabilitation participated in a structured interview in which they were asked to report the presence/absence of emotionalism and degree of distress associated with it. Their overt crying behaviour was also observed and recorded. Independent variables that predicted crying during the interview were identified using a multiple logistic regression procedure. Prevalence rates of emotionalism-tearfulness were high in this sample (52% self-report, 36--41% Emotionalism-laughter was much less common (13%) Emotionalism-tearfulness was usually accompanied by negative affect, occurred in response to identifiable precipitants, and was often controllable. It was associated with major personal distress in about half the subjects who reported it. Independent variables which predicted crying behaviour were female gender and focal damage to the right cerebral hemisphere. It is concluded that an increased readiness to cry is common in people with severe acquired brain injury of mixed aetiology. The behaviour is meaningful, though not always distressing. The intensity of the behaviour is variable, and it may be most appropriate to regard emotionalism as a dimension rather than a syndrome. Implications for clinical management are discussed.
About 15% of patients with a clinical phenotype of Angelman syndrome (AS) have an unknown etiology. We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present.
Cataplexy is an intriguing example of how emotions can trigger muscle weakness by activating neural pathways. When associated with excessive daytime sleepiness, cataplexy is considered pathognomonic of narcolepsy. A questionnaire was administered to 55 patients with narcolepsy-cataplexy and 47 comparison subjects with obstructive sleep apnea. The area under the receiver-operating curve was 0.94 for the combination of muscle weakness with laughter and ability to hear during the episode. A 51-item questionnaire succeeds in identifying cataplexy in narcolepsy-cataplexy patients measured up against a comparison group. In the future, an abbreviated survey with these two questions should identify cataplexy with high sensitivity and specificity. These selected questions could subsequently be included into screening tools for use with different patient populations.
Pseudobulbar affect (PBA) is an affective disinhibition syndrome associated with various neuropathologies, which is characterized by involuntary and inappropriate outbursts of laughter and/or crying. The PBA syndrome can be socially and occupationally disabling, and it is largely unrecognized in clinical settings. Validated instruments to distinguish PBA from other disorders of affective regulation exist and could be used to improve recognition of the disorder. There is no pharmacological therapy with a Food and Drug Administration indication for PBA, although antidepressants and dopaminergic agents have been reported to show varying levels of treatment success. Recent evidence suggests that treatment with a fixed combination of dextromethorphan and the cytochrome P450 2D6 enzyme inhibitor, quinidine, can improve PBA. This review describes the clinical and neuropathological features of PBA, and presents an overview of current and future treatment approaches.
Stage fright is an overdetermined symptom of all persons who must perform before an audience. The performer may experience disintegration anxiety as he searches for a mirroring or an idealized object to make him feel complete and loved. Anxiety may be generated by his fantasy that he is stirring up the envy and persecution of others as a defense against his own envy. He also may develop anxiety over his fear that his success is depriving others and harming them. The performer's concern over his greed may activate unconscious anxieties about depleting the very object he seeks of all it has to give. Conversely, if he projects the greediness onto the audience, he may fear that he will be devoured. Finally, he may become extraordinarily anxious over the thrust toward autonomy that his assertive act of performing represents to him. He may feel that if he does not perform according to the expectations of his audience-mother, he will lose the audience's love and admiration. Although it is a potentially disabling problem, stage fright adds a unique dimension to the vitality of live performance. It is emblematic of the electric interaction between the performer and the audience that makes the theater a place of magic. Audience members bring a certain degree of reality to the performer's fears: they may cheer him on, but they may also secretly hope for disaster. If a faux pas occurs, they may ridicule him with laughter, and a poorly executed performance may result in fidgeting, at least, and hurling of vegetables, at worst. As the performer balances on the razor's edge of the audience's ambivalent empathy for him, a sense of dangerous excitement is created. This interactional tension makes live performance a unique medium that can never be replaced by film or recording. As one performer put it, "It creates a feeling of delicious dread, a mixture of horror and anticipation."
For 14 years investigators accredited by the FDA have been injecting a Teflon - glycerin mixture into lateral-lying, paralyzed vocal cords. This paper represents a summary of the work of this author, including successes, failures, and complications; it is the largest reported series, plus that of accredited investigators. The method described is exceptionally useful; it has restored voices, laughter, the ability to strain, and has prevented aspiration. A new surgical technique involving the injection of sterile glycerin into comparable vocal cords in acute new situation is also described. This is done by direct or indirect laryngoscopy, and has been used to eliminate some tracheotomy surgery by virtue of the immediately improved cough effectiveness.
Spasmodic dysphonia is a severe disorder of phonation accompanied by extreme tension of the entire phonatory system. The expressive functions of speech such as laughter, singing, and whispering are much less affected if at all. Psychotherapy, speech therapy, stimulant and psychotropic drugs, hypnotism and acupuncture have all been tried as treatment without success. In 1976, Dedo reported 34 patients who were managed with recurrent laryngeal nerve section for spasmodic dysphonia. All of these patients had marked improvement in voice with relief of spasticity. Twenty-two patients with documented spasmodic dysphonia present for at least one year have been managed at the Cleveland Clinic since Dedo's report. None of them had any improvement with conventional voice therapy and were subjected, therefore, to recurrent laryngeal nerve section.
Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitive laughing attacks or mixed attacks with laughing and crying, which were refractory to carbamazepine. An interictal EEG showed intermittent slow waves in the left frontocentral region and sporadic positive sharp waves in the left centroparietal area. Ictal EEG demonstrated dysrhythmic theta activity in the left central area 3 seconds after the onset of laughing. Brain magnetic resonance imaging demonstrated a large sessile mass, isointense to gray matter, in the region of the hypothalamus, suggesting hypothalamic hamartoma. Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. The altered chemical shift imaging with magnetic resonance spectrometry in our patient suggests a biochemical abnormality in the tissue of the hypothalamic hamartoma. Moreover, this abnormal function of the hamartoma tissue might be closely related to epileptogenesis because the time difference between the ictal laughter and the subsequent EEG changes in the ictal EEG does not support the idea that the activated cortex is the epileptogenic focus.
Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only one case report of gelastic seizure caused by holoprosencephaly. We report a 2-year-old girl with multiple brain structural abnormalities including tectal tumor (possibly hamartoma), multiple subependymal nodules, and holoprosencephaly. She developed seizures during the newborn period and presented with gelastic seizure and simple partial seizure at 3 months of age.
OBJECTIVE: We reviewed the clinical and radiological features of 73 cases of trigeminal neuromas treated with radical surgery. METHODS: The records for 73 patients with trigeminal neuromas who were surgically treated in the neurosurgery department of King Edward VII Memorial Hospital and Seth Gordhandas Sunderdas Medical College (Mumbai, India), between 1989 and 2001, were retrospectively analyzed. The appropriateness of the selected surgical route was studied. The postoperative and follow-up data for the patients were analyzed, to determine the outcomes of radical surgery. RESULTS: In addition to the other presenting features of trigeminal neuromas, nine patients presented with the rarely reported symptom of pathological laughter. Three approaches were observed to be appropriate for treatment of these tumors, i.e., the infratemporal fossa interdural approach, the lateral basal subtemporal approach, and the retrosigmoid approach. In 51 cases (70%), total tumor excision was achieved. Two patients died during the postoperative period. With an average follow-up period of 38 months, there has been a recurrence in 1 case and 71 patients are leading independent and active lives. CONCLUSION: Radical surgery is associated with excellent clinical outcomes and long-term tumor control. A majority of tumors, even those that are large and multicompartmental, can be removed in a single surgical stage and exposure.
The nature and quality of preadolescent friendships between children with and without learning problems due to mental retardation or mild cognitive difficulties were investigated. Based on an assessment of the reciprocal relationship status of 373 children, including 54 with learning problems, 33 friend and 32 acquaintance dyads were identified. Of these dyads, half included a child with learning problems and half consisted of 2 children without learning problems. The dyads were observed performing a play task. Unlike friendships between children without disabilities, friendships between children with and without learning problems were marked by limited collaboration and shared decision-making, a low level of cooperative play and shared laughter, and an asymmetrical, hierarchical division of roles. The importance of advancing beyond the study of the social acceptance of children with learning problems to study the qualitative aspects of their friendships was discussed.
Angelman syndrome is characterized by mental retardation, seizures, ataxia, inappropriate laughter, lack of speech, a particular facial appearance, and generally a chromosome 15q11-q13 deletion. Recently, a fascination with water and water-related activities has been reported in individuals with the syndrome. We report on a 9.6-year-old male previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. This case further illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. We wish to alert careproviders that this fascination with water and water-related activities may contribute to death and that these individuals should be closely supervised when in the presence of water.
OBJECTIVE: Generally, increasing attention is being paid to the quality of doctor-patient communication. However, children's contributions have been, until now, primarily ignored in communication research, although there are indications that considering their views increases satisfaction and compliance. In the present study, we examined how children contributed to communication during outpatient pediatric encounters and what factors were associated with children's contributions. PATIENTS: Twenty-one consulting pediatricians videotaped a total of 302 consecutive outpatient encounters. DESIGN: Multilevel analysis was used to take into account the similarity among encounters with the same pediatrician. RESULTS: Children's contributions to the outpatient encounters were limited to 4%. Pediatricians directed one out of every four statements to the child. Although pediatricians asked children a lot of medical questions (26%), only a small part of the medical information (13%) was directed at the children. Apart from social talk and laughter, the amount of pediatrician-child communication increased with children's age. Communication with children suffering from disorders of the nervous system seemed to differ from that with children suffering from other diseases. Allowing children more room in the medical visit did not seem to increase the duration of the visit. CONCLUSIONS: Although recent legislation requires children to be adequately informed, in pediatric outpatient encounters information still tends to be directed primarily at the parents. Children do get the opportunity to talk about social and psychosocial issues. Pediatricians may need to acquire similar communication skills to discuss medical-technical issues with the children.
The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.
Since the initial observation by Brown (1914) that electrical stimulation applied to the habenular efferent bundle in the chimpanzee evoked a pattern of respiration which closely resembled the act of laughter, the habenular complex has remained a mysterious structure. The anatomy of the habenular complex is well delineated (Jones, 1985) forming a major component of the dorsal diencephalic conduction system. Data derived mainly from animal experimentation over the past decade point to the fact that the habenular complex functions as an important link between the limbic forebrain and the midbrain-extrapyramidal motor system. The elucidation of the functions of the habenular complex may thus significantly increase the current insight into the understanding of the interaction between behavioral and motor functions. Clearly, such information would be of great relevance for further understanding of neuropsychiatric disorders such as schizophrenia, Parkinson's disease, Tardive dyskinesia, and Tourette's syndrome in which behavioral and motor impairments are interfaced. This review summarizes anatomical, functional, and pharmacological aspects of the habenular complex and discusses its potential contribution to the pathophysiology of selected neuropsychiatric and movement disorders.
This study examined the relationships among age (2-20 years) and the impacts of 12 common triggers in episodes of childhood asthma. The triggers were: air pollution, allergy problems, cigarette smoke, stress or worry, anger, excitement, laughter, high/low environmental temperature, high humidity, respiratory infection, nighttime hours, and physical activity. Data were analyzed from families with asthmatic children (n = 119) as part of a larger study of biological and psychosocial factors in asthma and other illnesses. Positive correlations were found for age and the trigger impacts of allergy problems (p = 0.025) and physical activity (p = 0.004); negative correlations were found for age and the trigger impacts of nighttime hours (p = 0.002) and respiratory infection (p = 0.002). Age was also negatively correlated with the frequency of recent respiratory infections (p = 0.000) and positively correlated with the intensity of hay fever episodes (p = 0.047). These findings indicate that as children with asthma get older, their asthma episodes are more likely to be influenced by allergy problems and physical activity, and less likely to be associated with nighttime hours and respiratory infections.