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PubMed2000

The outpatient medical encounter and elderly patients.

There is little evidence of systematic negative bias against older patients in medical visits. The nature of the current narrative review, largely based on studies conducted after 1985, is consistent with the author's previous metaanalysis of over 40 studies published between 1965 and 1985. In that review, based on videotapes or audiotapes of medical visits, consistent relationships between patient age and physicians' interviewing skills were found. Older patients received more information, more total communication and questions concerning drugs, more courtesy, and perhaps more formality reflected in less laughter and joking than younger patients. Ultimately, the subtle ageism that may be present in medical visits with older patients is probably balanced somewhat by communication advantages afforded them challenging the negative views of older patients' care prevalent in the literature. This balance may help explain the ubiquitous finding that older patients are more satisfied with their health care, despite poorer health status, than younger patients. Nevertheless, other patients, especially those in the oldest cohorts, are at high risk for passive relationships and communication complications related to low literacy and poor health status and deserve the attention and special consideration of providers and health service researchers.

Adult↗

PubMed2003

Acute psychotic reaction caused by topical cyclopentolate use for cycloplegic refraction before refractive surgery: case report and review of the literature.

A 56-year-old woman was evaluated for the surgical correction of hyperopia (+3.0 diopters). Two drops of cyclopentolate 1% were instilled in both eyes for measurement of the cycloplegic refraction and wavefront analysis. Immediately after the second instillation, the patient reported drowsiness, dizziness, nausea, and fatigue. Ten minutes later, stimulatory central nervous system symptoms in the form of restlessness, cheerfulness, and a 20-minute-long roar of laughter were observed, interrupted by a new sedative phase. Basic medical and neurologic examinations were unremarkable except for gait ataxia. Four hours later, the examination was continued uneventfully. As surgical treatment of refractive errors and measurement of cycloplegic refraction using cyclopentolate become more frequent, ophthalmologists should be aware of this unusual acute event.

Acute Disease↗

PubMed1997

Angelman syndrome assessed by neurological and molecular cytogenetic investigations.

Angelman syndrome (AS) is characterized by severe psychomotor retardation, speech impairment, happy disposition with bursts of laughter, ataxia, convulsions, and some distinct physical anomalies. Correct diagnosis of AS is important because of its clinical implications, and once the disease is confirmed, familial genetic counseling becomes crucial. We evaluated 22 patients with a putative diagnosis of AS by both clinical and molecular cytogenetic analysis. A deletion of the region 15q11-13 could be identified cytogenetically in 11 cases by high-resolution technique (group I). Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi syndrome (PWS)/AS region probes] (group II). The common deletion of GABRB 3 was documented in those AS cases (n = 15) by FISH. The other 7 cases exhibited no deletion over 15q11-13 at either the cytogenetic or molecular level (group III). We compared the following associated neurological disorders: convulsions and abnormal EEG, microcephaly, sleep and behavior problems, brain anomalies proved by image studies, sexual precocity with pineal tumor among the three groups, as well as other clinical conditions including congenital heart disease, obesity, scoliosis, and hypopigmentation. In the present study, the differences in neurological and facial characteristics were not distinct among these groups. However, the associated conditions were more frequently observed in the patients with deletion than in those without deletion. The EEG features of AS appear to be less sufficient in helping identify patients at an early age before the clinical features become obvious. Therefore, a region involved in the major As phenotypes may contain only one or more tightly contiguous genes around the GABRB 3 locus, which may explain the clinical heterogeneity in AS.

Adolescent↗

PubMed2000

Arnold-Chiari malformation presenting as sleep apnea syndrome.

Sleep apnea syndrome is a recognized manifestation of Arnold-Chiari malformation that almost invariably has been described in association with other neurological findings. We report a 39-year-old man who presented with severe daytime hypersomnolence. A detailed neurological examination was completely normal. Polysomnography revealed moderately severe mixed central and obstructive sleep apnea and hypopnea with persistence of central apnea and hypersomnolence despite nasal continuous positive airway pressure therapy. A history of severe headaches precipitated by sustained laughter prompted the consideration of an Arnold-Chiari malformation (ACM). A type I ACM with no evidence of syringomyelia or hydrocephalus was confirmed by MRI and successfully decompressed by suboccipital craniotomy and upper cervical laminectomies. Post-operatively the patient's headaches and hypersomnolence disappeared and a repeat polysomnography showed marked improvement in the sleep-disordered breathing. Physicians should be aware that severe sleep- disordered breathing may be the initial and sole presenting feature of Arnold-Chiari malformation.

Journal Article↗

PubMed1999

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

Angelman Syndrome↗

PubMed2004

Mothers' behavior modifications during pretense and their possible signal value for toddlers.

An important issue for understanding early cognition is why very young children's real-world representations do not get confused by pretense events. One possible source of information for children is the pretender's behaviors. Pretender behaviors may vary systematically across real and pretend scenarios, perhaps signaling to toddlers to interpret certain events as not real. Pretender behaviors were examined in 2 experiments in which mothers were asked both to pretend to have a snack and really to have a snack with their 18-month-olds. Episodes were analyzed for condition differences in verbal and nonverbal behaviors, including smiling, looking, laughter, and functional movements. Reliable differences were found across conditions for several variables. In a 3rd experiment, children's apparent understanding of pretense in relation to their mothers' behaviors was examined, and significant associations were found with some of the mothers' behavioral changes but not others. This work provides a first inroad into the issue of how children learn to interpret pretense acts as pretense.

Attention↗

PubMed1997

UBE3A/E6-AP mutations cause Angelman syndrome.

Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role. In about 70% of cases, AS is caused by de novo maternal deletions at 15q11-q13 (ref. 2). Approximately 2% of AS cases are caused by paternal uniparental disomy (UPD) of chromosome 15 (ref. 3) and 2-3% are caused by "imprinting mutations'. In the remaining 25% of AS cases, no deletion, uniparental disomy (UPD), or methylation abnormality is detectable, and these cases, unlike deletions or UPD, can be familial. These cases are likely to result from mutations in a gene that is expressed either exclusively or preferentially from the maternal chromosome 15. We have found that a 15q inversion inherited by an AS child from her normal mother disrupts the 5' end of the UBE3A (E6-AP) gene, the product of which functions in protein ubiquitination. We have looked for novel UBE3A mutations in nondeletion/non-UPD/non-imprinting mutation (NDUI) AS patients and have found one patient who is heterozygous for a 5-bp de novo tandem duplication. We have also found in two brothers a heterozygous mutation, an A to G transition that creates a new 3' splice junction 7 bp upstream from the normal splice junction. Both mutations are predicted to cause a frameshift and premature termination of translation. Our results demonstrate that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease.

Amino Acid Sequence↗

PubMed1997

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

Angelman syndrome (AS) is a human genetic disorder characterized by mental retardation, seizures, inappropriate laughter, abnormal galt, tremor and ataxia. There is strong genetic evidence that the disorder is associated with a maternally expressed, imprinted gene mapping to chromosome 15q11-13. Affected patients demonstrate varied molecular abnormalities, including large maternal deletions, uniparental paternal disomy (UPD). Imprinting mutations and loss of function mutations of E6-associated-protein (E6-AP) ubiquitin-protein ligase (UBE3A). All of these abnormalities are associated with loss of maternal expression of UBE3A. Although mutations in UBE3A cause AS, indicating that maternal-specific expression of UBE3A is essential for a normal phenotype, evidence for maternal-specific expression of UBE3A has been lacking. Using mice with partial paternal UPD encompassing Ube3a to differentiate maternal and paternal expression, we found by in situ hybridization that expression of Ube3a in Purkinje cells, hippocampal neurons and mitral cells of the olfactory bulb in UPD mice was markedly reduced compared to non-UPD littermates. In contrast, expression of Ube3a in other regions of the brain was only moderately or not at all reduced in UPD mice. The major phenotypic features of AS correlate with the loss of maternal-specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse model.

Angelman Syndrome↗

PubMed1980

Conditioned stimulus effects on stuttering and GSRs.

The simultaneous effects of a conditioned stimulus on the frequency of autonomic arousal responses (GSRs) and stuttering for ten subjects were investigated. GSR and stuttering responses were recorded during baserate, treatment, and extinction conditions for three sessions. A face slide was presented continuously for treatment conditions of all sessions. Recorded laughter was presented contingent upon each moment of suttering during the treatment condition of session two. Stuttering frequency was suppressed during session three demonstrating that the face slide was functioning as a discriminative stimulus. During the treatment portion of session three, GSRs increased for four subjects and decreased for six subjects. Autonomic arousal as a response to the conditioned stimulus did not demonstrate a consistent pattern across subjects.

Adult↗

PubMed1998

The clinical diagnosis of the narcoleptic syndrome.

Sleep-wake habits and control of postural muscle tone were investigated by self-report questionnaire in 183 subjects considered to have the narcoleptic syndrome, 62 subjects with hypersomnia and 10 with obstructive sleep apnoea. Results were compared with those in a group of 188 control subjects with normal sleep wake habits. Excessive daytime sleepiness, determined by the Epworth Sleepiness Scale (ESS), was five times greater in the narcoleptic syndrome than in control subjects (score range 0-24, mean scores +/-SD 19.6+/-3.0; and 4.5+/-3.3 respectively; P<0.001). The propensity to cataplexy, as determined by a rating scale developed to estimate the likelihood of loss of postural tone in response to sudden emotional stimuli, including laughter, was 10 times greater in narcoleptic syndrome than in control subjects (postural atonia total score range 0-600; mean + SD 334+/-122 and 28+/-45, respectively; P<0.001). Narcoleptics had more disturbances of night sleep than controls with episodes of muscle jerking, sleep walking, sleep talking and sleep terrors, as well as sleep paralysis, and higher insomnia self-rating scores. Sleep latency from bedtime to sleep-onset time was shorter in narcoleptics than controls. The hypersomniac group of 62 subjects was heterogeneous. Subsequent investigation showed that 18 subjects (29%) had idiopathic hypersomnia, four (6%) 'incomplete' narcolepsy without cataplexy and 10 (16%) hypersomnia accompanying a mood disorder. The mean ESS scores in this group and in subjects with obstructive sleep apnoea were comparable to those of the narcoleptic syndrome subject group. Mean postural atonia scores were similar to those of control subjects.

Adult↗

PubMed1985

[Pressure headache (cough headache)--definition and comments on etiology].

Seven case histories serve to introduce and illustrate the term press headache. This term applies to all manifestations of headache released or caused by abdominal muscle pressure (defaecation, cough, sneeze, laughter etc.). This type of headache is thus marked of the collective term "exertional headache", commonly used in American literature, and is than differentiated from "exertional headache" proper ("effort migraine") on the one hand and coital headache on the other. Obviously, males predominate among those who suffer from press headache, the average age being 53-55 years. Blockage of the foramen magnum is discussed as a possible cause, in some cases perhaps influenced by hereditary tonsillar ectopia (Arnold Chiari I).

Adult↗

PubMed2000

Ophthalmic manifestations of Angelman syndrome.

In 1965, Angelman described 3 cases of what he called "Puppet" children, named for the characteristic signs associated with what is now known as Angelman syndrome, including mental retardation, speech impairment, easy excitability, and frequent spontaneous laughter.(1) Since that report, much progress has been made in defining the syndrome's clinical manifestations and understanding its molecular foundations, including identification of deletions of 15q11-13 in some patients. There are few reports in the ophthalmic literature regarding ocular manifestations of this syndrome. (2,3) We present the case of a child with strabismus associated with Angelman syndrome, and we review the ophthalmic and systemic findings, as well as recent advances in molecular genetics, in these patients.

Angelman Syndrome↗

PubMed1994

Therapeutic use of humor to improve social support in an institutionalized schizophrenic inpatient community.

We attempted to use passive communal laughter to improve social support within a chronic schizophrenic inpatient population. Two identical wards were compared on classical measures of social support (emotional and functional), social network (size and dispersion), satisfaction, and the nature of the social relationships (source). The experimental group was exposed to video projection of humorous movies four times daily for 3 months, and the control group to video projections of other, assorted movies at the same rate. In the experimental ward a significant improvement was manifest in the category of "distinct individuals supporting each patient." The difference may have been due to an improvement in the relationship with the staff. No improvement was found on any of the other measures. We concluded that the positive atmosphere that humor creates affects the therapeutic alliance between staff and patients but does not affect other social networks because of the regressed nature of the schizophrenics' social relationships.

Adult↗

PubMed1993

Effectiveness of the use of humor in the rehabilitation of people with SCI: a pilot study.

Despite the empirically established beneficial effects of laughter on psychological health, humor remains a much neglected area of research. This study examined the psychological impact of humor on people with SCI, the hypothesis being that it would significantly reduce the deleterious psychological effects of the injury. Mood state, frequency of intrusive thoughts and avoidance behavior of eight male inpatients at the National Spinal Injuries Centre were monitored before and after exposure to a series of five humorous video presentations. Although differences in these parameters were in the predicted direction, statistical analysis revealed no significant effect. Nevertheless, this pilot study highlighted pertinent issues and suggested modifications for further exploration.

Adolescent↗

PubMed2000

Changing physicians' attitudes toward self-help groups: an educational intervention.

BACKGROUND: Members of self-help groups (SHGs) for support of cancer patients are concerned that physicians are skeptical about these groups and see them as potentially harmful. The purpose of this study was to assess family physicians' attitudes towards self-help groups and see whether these could be changed through an educational intervention. METHODS: A questionnaire assessing attitudes toward SHGs was mailed to 1,422 eligible Ontario family physicians, to which 911 responded (64% response rate). Responders were sent an educational package consisting of an article about self-help groups, a list of local cancer self-help groups, and a follow-up questionnaire. RESULTS: The study was completed by 584/911 family physicians (64%). After being exposed to educational material, the physicians were more positive about the helpfulness of SHGs (p = 0.021), and less concerned about SHGs' being harmful (p = 0.003). They were more positive about the potential for SHGs to provide participants with opportunities for: sharing information (p = 0.004), bonding with other patients (p < 0.001), feeling understood (p = 0.004), sharing common experiences (p = 0.004), providing hope (p < 0.001), sharing laughter (p = 0.001), becoming more assertive (p < 0.001), communicating with health professionals (p = 0.04), dealing with issues related to death and dying (p = 0.005), advocacy (p = 0.01), and overcoming isolation (p = 0.002). They were less concerned with the potential for SHGs to provide misinformation (p = 0.003), the negative effects of associating with the very ill (p = 0.002), dwelling on illness (p = 0.002), or cultivating false hope (p = 0.001). CONCLUSION: Having family physicians complete a questionnaire, followed by educational material specific to their concerns, changed their attitudes toward self-help groups. Further study is needed to see whether behavioral changes resulted.

Attitude of Health Personnel↗

PubMed1990

Emotional coping, age, and physical disorder.

Traditional ideas suggest that emotional expression is healthy, but empirical support for this position is mixed. Adult subjects participated in a telephone interview to examine the relationships among age, emotional coping (ie, laughter and crying), physical disorder, sex, and income level. Results indicated that cry-coping in women and in low-income participants was associated with increased disorder as age increased. Humor-coping had no relationship to physical disorder across the adult lifespan. These results indicate that emotional weeping does play a role in the prediction of physical disorder, especially in certain groups. In the future, researchers need to concentrate on more subtle physiological effects as well as on the psychological and social consequences of emotional expression.

Adaptation, Psychological↗

PubMed2002

Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation.

Among several genetic diseases that comprise mental retardation, Angelman syndrome (AS) has been extensively recognized and investigated. In the general population, the syndrome occurs in about 1 in 20,000 live births and its prevalence in severely mentally retarded individuals is 1.4%. These figures, however, may be an underestimate, because of the variable phenotype of AS. The main objective of this work was to investigate AS patients among a group of mentally retarded subjects, using the methylation pattern of the SNRPN gene, as determined by Southern blotting molecular analysis. The molecular investigation of 75 institutionalized individuals with severe to profound mental retardation resulted in the detection of 1 case with an abnormal methylation pattern of the SNRPN gene, corresponding to AS. The patient's phenotype was classified as atypical, without outbursts of inappropriate laughter or a happy disposition; the patient would not have been diagnosed in the usual screens for AS, which only select patients who demonstrate the typical clinical findings characteristic of the disease.

Angelman Syndrome↗

PubMed1999

Humour appreciation: a role of the right frontal lobe.

Humour occupies a special place in human social interactions. The brain regions and the potential psychological processes underlying humour appreciation were investigated by testing patients who had focal damage in various areas of the brain. A specific brain region, the right frontal lobe, most disrupted the ability to appreciate humour. The individuals with damage in this brain region also reacted less, with diminished physical or emotional responses (laughter, smiling). Performance on the humour appreciation tests used were correlated in a distinct pattern with tests assessing cognitive processes. The ability to hold information in mind (working memory) was related to both verbal (jokes) and non-verbal (cartoon) tests of humour appreciation. In addition, the demands of the specific type of humour test were related in a logical manner to cognitive processes, verbal humour being associated with verbal abstraction ability and mental shifting and cartoon humour being related to the abilities to focus attention to details and to visually search the environment. The ability of the right frontal lobe may be unique in integrating cognitive and affective information, an integration relevant for other complex human abilities, such as episodic memory and self-awareness.

Adolescent↗