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The concurrence of gelastic (laughing) seizures and precocious puberty has been reported in 18 patients, including 2 described here. At least 10 patients had hypothalamic hamartomas. Improvements in cerebral imaging permit noninvasive diagnosis. Surgical intervention in seven of these patients was of little diagnostic or therapeutic benefit.
We present the first pathologic descriptions of the puppet-like syndrome of Angelman based on autopsy studies of a 21-year-old woman. The noteworthy findings were a small brain with mild cerebral atrophy but normal gyral development. There was marked cerebellar atrophy with loss of Purkinje and granule cells and extensive Bergmann's gliosis. Study of dendrite morphology using Golgi impregnations of the visual cortex revealed a prominent decrease in dendritic arborization of layer 3 and layer 5 pyramidal neurons. Quantitative Golgi analysis also revealed a significant decrease in the numbers of dendritic spines in apical layer 3 dendrites and both apical and basal layer 5 dendrites. Neurochemical studies of frozen brain tissue demonstrated markedly reduced gamma-aminobutyric acid content in the cerebellar cortex, as well as elevated glutamate content in the frontal and occipital cortices. Although there are no definite morphologic correlates of many of the clinical signs, the pronounced dendritic pathology and neurochemical abnormalities in cerebral cortex may provide a physiologic basis for mental retardation.
OBJECTIVE: To characterize the cognitive deficits in children with gelastic seizures and hypothalamic hamartoma and investigate the relationship of seizure severity to cognitive abilities. METHODS: Eight children with gelastic seizures and hypothalamic hamartoma completed a neuropsychological battery of standardized and age-normed tests, including the Woodcock-Johnson Psycho-Educational Battery-Revised: Tests of Cognitive Ability, Peabody Picture Vocabulary Test-III, and initial-letter word fluency measure. RESULTS: All children displayed cognitive deficits, ranging from mild to severe. Gelastic/complex partial seizure severity was correlated with broad cognitive ability standard scores (r = -0.79; r2 = 0.63; (F[1,6] = 10.28; p = 0.018]. Frequency of gelastic/complex partial seizures was also correlated with broad cognitive ability standard scores (r = -0.72; r2 = 0.52; F[1,6] = 6.44; p = 0.044). Significant intracognitive standard score differences were found, with relative weaknesses in long-term retrieval (mean = 64.1; SD = 13.3) and processing speed (mean = 67.7; SD = 21.6) and a relative strength in visual processing (mean = 97.6; SD = 12.8). Performance in visual processing differed from performance in long-term retrieval (p = 0.009) and processing speed (p = 0.029). CONCLUSION: These findings are consistent with cognitive functions and affective/emotional states associated with conduction pathways of the hypothalamus involving cortical association areas and amygdala and hippocampal formation. These abnormalities can account for the prominent deficit found in integrating information in the processing of memories.
This study presents six patients with hypothalamic hamartomas diagnosed on the basis of magnetic resonance imaging. Histological confirmation was performed in three patients who underwent surgery. Immunohistological assays were used to determine the neurosecretory pattern. Four patients presented with epilepsy, including gelastic seizures. Other symptoms included behavioral abnormalities in four patients and precocious puberty and visual impairment in two patients. One patient presented associated developmental defects. Good results without morbidity were achieved with surgical resectioning in two patients with large hamartomas associated with behavioral abnormalities and gelastic epilepsy that was unresponsive to conventional medical treatment and in one patient with visual impairment. We propose a classification of the hypothalamic hamartomas based on topographical and clinical data obtained from 36 selected cases in the literature and six of our own cases. This classification should help to classify the various treatment methods and the surgical risks into four subgroups (Types la, lb, lla, and llb). We conclude that the surgical approach is a realistic alternative in certain cases, including large and broad-based Type llb hamartomas associated with gelastic epilepsy and behavioral disorders.
Angelman syndrome is a neurogenetic disorder associated with unique behaviors and characteristics, including an unusually happy expression, inability to speak, ataxia, mental retardation, and abnormal EEG. Previous research has suggested that smiling and laughing behaviors in Angelman syndrome are inappropriate, excessive, and dissociated from contextual events. In the present study, the variability of smiling and laughing behaviors of 3 individuals with Angelman syndrome was examined across typical social contexts. Results indicate that laughing and smiling increased during social situations and occurred at low levels during non-social situations. The behaviors, therefore, did not occur totally inappropriately, as has been suggested. The findings illustrate the need to divert attention to the examination of environmental influences on purported phenotypic behavior in genetic syndromes.
Using observational methods, we examined the social influences on laughing and smiling behavior in children with Angelman syndrome by systematically manipulating aspects of social interaction. Seven boys and 4 girls who were between 4 and 11 years of age and who had a confirmed maternal deletion of chromosome 15q11-q13 completed the study. Each child was observed while repeatedly exposed to three conditions in which parameters of social interaction were manipulated. Laughing and smiling behavior varied across all children and was significantly heightened in a condition involving adult speech, touch, smiling, laughing, and eye contact. The findings highlight the importance of examining environmental and social influences on purported phenotypic behavior in genetic syndromes.
The effects of social stimuli present and absent on laughing and smiling in 2 young children with Angelman syndrome were assessed via a multielement design. Results indicated that laughing and smiling for either child was unaffected by the social stimuli assessed in the social interaction condition. Results are discussed in terms of the effects of biological variables and environmental stimuli on children with specific genetic disorders across the lifespan.
Each of the two manufacturers supplied one pair of behind-the-ear hearing devices for testing. The control group had the volume turned off and the test group had the volume turned on fully. All units were subjected to a series of 21 exposures of 90kV(p) and 15 mA, resulting in cumulative doses of 5.465 to 5.516 R. All devices were analyzed for any changes that resulted from radiation exposure. Both vendors reported that no changes had occurred. For legal reasons, however, one vendor suggested that it would be best to remove the hearing device before exposure to radiation. Such prudent action might prevent the occurrence of a very unusual accident. A third company that conducted a similar experiment on its own units indicated that no changes had occurred. The company's testing facility also suggested that a vendor should not give any warranty and recommended the hearing aid device be removed before radiographic examination.
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Seven cases of cursive and two cases of gelastic manifestations of epileptic seizures are presented. The cases were documented with computerized tomography and electroencephalography (EEG). Most of patients with cursive seizures showed temporal lobe epileptiform discharge in EEG. The authors discuss the theme in relation to pathophysiology and conclude that they are not a homogeneous group according to prognosis and nosology. Every case presented complex partial seizures with or without tonic-clonic seizures.
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We investigated the effects of laughing and weeping induced by watching comedy and tragedy videos on mood and autonomic nervous function. Ten healthy female subjects volunteered for the experiment. Chest electrocardiogram and respiration curve were recorded before, after, and during watching a comedy or a tragedy video. We also asked them to fill out profiles of mood states (POMS) to evaluate their mood states while watching videos. Autonomic nervous function was estimated by spectral analysis of heart rate variability (HRV). All subjects more or less laughed and wept while watching comedy and tragedy videos, respectively. Anger-hostility score of the POMS decreased and vigor score increased significantly after watching comedy videos, while depression-dejection score increased significantly after watching tragedy ones. Although both contents tended to increase a low to high frequency component ratio (LF/HF ratio) of HRV, the time course of responses was different. The LF/HF ratio which reflects cardiac sympathovagal balance increased immediately after they started watching comedy videos, and returned to the basal level right after they stopped watching, whereas the LF/HF ratio increased gradually to a lesser extent while watching tragedy videos. In contrast, the high-frequency component which reflects cardiac parasympathetic nerve activity gradually decreased while watching both videos but did not return to the basal level after watching tragedy ones. These results suggest that laughing has strong but transient effects on the autonomic nervous system, while weeping or feeling sad has moderate but sustained effects on it.
A series of 17 patients aged from 9 months to 32 years with refractory epilepsy due to hypothalamic hamartoma were treated by total removal (one case) and disconnection (16 cases) between 1997 and 2002. The mean age at seizure onset was 16 months. Sixteen patients had gelastic seizures, 14 had partial seizures and three had generalized tonic-clonic seizures. The mean seizure frequency was 21 per day. Four patients had borderline intelligence quotient and the others were mentally retarded. Five patients presented with precocious puberty, one with acromegaly, and four suffered from obesity. Brain magnetic resonance imaging, performed at least twice in each patient, showed the hamartoma as a stable homogeneous interpeduncular mass implanted either on the mammilary tubercle or on the wall of the third ventricle with variable extension to the bottom. Ictal single photon emission computed tomography, performed in four patients, showed hyperperfusion within the hamartoma in two patients. Twenty-five operations were performed in the 17 patients. The first patient underwent total removal of the hamartoma, whereas the following 16 patients underwent disconnection through open surgery (14 procedures) and/or endoscopy (9 procedures). Eight patients became seizure-free, one patient had only brief gelastic seizures, and eight patients were dramatically improved with a mean follow up of 18.6 months (8 days to 43 months). Surgery was safe in all but two patients: the first patient had transient hemiplegia and the third cranial nerve paresis, and the other developed hemiplegia due to ischemia of the middle cerebral artery territory. The quality of life, and behavior and school performance were greatly improved in most patients. Our series illustrates the feasibility and relative safety of disconnection surgery for hypothalamic hamartomas with seizure relief in 53% of patients and dramatic improvement in the others. Surgical observations led us to propose a new anatomical classification according to the anatomical relationship between the hamartoma and the adjacent hypothalamus and third ventricle. Endoscopic disconnection seems to be a very safe way to treat hamartomas in intraventricular locations.
In a study of humor disguised as a psychophysical task, 60 subjects judged an initial series of 10 weights which was either light or heavy and then a shift weight which was either light, medium, or heavy. Degree of humorous response varied with the discrepancy of the shift weight and its absolute magnitude.
For 8 medical students influences of psychological stress or humor on T-cell subset percentages and natural killer cell activity were investigated by measuring these parameters before and after an examination and before and after watching a comedy video. Although T-cell subsets were not significantly affected by either stimulus and natural killer cell activity was not affected by the examination, the latter was significantly decreased after watching the comedy video.
Polygraphic recordings was used to assess laughing and smiling, and results were compared for 34 normal controls, 24 schizophrenic patients, and 15 depressive patients. The schizophrenic and the depressive patients showed reduced "laughs of pleasure," i.e., laughing in reaction to a comic video assessed by laughing score; however, the depressive patients in remission showed the same laughing reaction as the controls. "Smiles as social signals" during interviews were reduced for the schizophrenic patients but remained for the depressive patients. There was a tendency for greater reduction of both laughing and smiling in disorganized- versus paranoid-type schizophrenia, suggesting that the disturbance of affect might be more severe in the former. These results show the possibility that polygraphic recording of laughing and smiling might be a useful method for investigating the disturbance of affect in schizophrenic and depressive patients.
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