Tourette's syndrome: update.

Tourette''s syndrome is a widely misunderstood chronic disorder that develops in childhood and is usually lifelong. It is characterized by waxing and waning of involuntary motor and phonic tics. The features and differential diagnosis are discussed in this paper. The estimated prevalence rate of Tourette''s syndrome, 0.05%, implies that this disorder is not rare. The reasons for diagnostic confusion are outlined, and the genetic and neurotransmitter features discussed. The management of Tourette''s syndrome has become more effective with the availability of at least two psychoactive drugs, haloperidol and pimozide. Although the cause of this syndrome is thought to be organic, these drugs and their adverse effects are best known to psychiatrists. Psychiatric and multidisciplinary intervention is often necessary because of the frequent association of psychosocial problems, cognitive and learning difficulties, and aggravation of the symptoms by stress. The understanding of Tourette''s syndrome will probably increase significantly with the advent of the newer imaging techniques and the rapid progress of research in the neurosciences.     

Dr Samuel Johnson's movement disorder.

Dr Samuel Johnson was noted by his friends to have almost constant tics and gesticulations, which startled those who met him for the first time. He also made noises and whistling sounds; he made repeated sounds and words and irregular or blowing respiratory noises. Further, he often carried out pronounced compulsive acts, such as touching posts, measuring his footsteps on leaving a room, and performing peculiar complex gestures and steps before crossing a threshold. His symptoms of (a) involuntary muscle jerking movements and complex motor acts, (b) involuntary vocalisation, and (c) compulsive actions constitute the symptom complex of Gilles de la Tourette syndrome (Tourette''s syndrome), from which Johnson suffered most of his life. This syndrome is of increasing interest recently because it responds to haloperidol, and because there are new insights into a possible biochemical basis for the tics, vocalisations, and compulsions.     

Factors associated with involuntary admission to psychiatric facilities in Newfoundland.

To assess what factors determine the involuntary status of psychiatric patients, we reviewed the case records of 5729 patients consecutively admitted to one of four inpatient psychiatric facilities, including a mental hospital, in St. John''s between October 1975 and October 1978. Of the 5729 patients 5005 (87.4%) were voluntary and 724 (12.6%) involuntary. Involuntary patients were more likely than voluntary patients to be male, single and unemployed and to have been referred by police or transferred from another facility to the mental hospital, where most of the involuntary admissions occurred. They had higher rates of previous admissions to a psychiatric facility and of suicidal and violent behaviour, were more likely to have a diagnosis of schizophrenia or mania and were less likely to be suffering from depression or a neurotic disorder. In correspondence with differences in diagnosis, involuntary patients stayed in hospital more than twice as long as voluntary patients, were less likely to receive electroconvulsive therapy, minor tranquillizers and antidepressants, and were more likely to receive neuroleptics and lithium carbonate. Stepwise logistic regression analysis revealed that only the source of referral and a diagnosis of neurotic disorder had an independent effect on admission status. The findings are discussed in the context of the controversy over the parens patriae approach v. the legal approach to involuntary admission of psychiatric patients.     

Involuntary commitment in Ontario: some barriers to the provision of proper care.

The Ontario Mental Health Act, as amended in November 1978, provides strictly defined criteria for involuntary commitment for psychiatric assessment; the assessment can last up to 5 days. These criteria fail to cover a number of patients who are, in the author''s opinion, in need of compulsory assessment or treatment. Four cases in which there was serious difficulty in giving proper care are described in this paper. The difficulties are discussed and improvements in the criteria for involuntary assessment recommended.     

Disgust implicated in obsessive-compulsive disorder.

Psychiatric classificatory systems consider obsessions and compulsions as forms of anxiety disorder. However, the neurology of diseases associated with obsessive-compulsive symptoms suggests the involvement of fronto-striatal regions likely to be involved in the mediation of the emotion of disgust, suggesting that dysfunctions of disgust should be considered alongside anxiety in the pathogenesis of obsessive-compulsive behaviours. We therefore tested recognition of facial expressions of basic emotions (including disgust) by groups of participants with obsessive-compulsive disorder (OCD) and with Gilles de la Tourette''s syndrome (GTS) with an without co-present obsessive-compulsive behaviours (GTS with OCB; GTS without OCB). A group of people suffering from panic disorder and generalized anxiety were also included in the study. Both groups with obsessive-compulsive symptoms (OCD; GTS with OCB) showed impaired recognition of facial expressions of disgust. Such problems were not evident in participants with panic disorder and generalized anxiety, or for participants with GTS without obsessions or compulsions, indicating that the deficit is closely related to the presence of obsessive-compulsive symptoms. Participants with OCD were able to assign words to emotion categories without difficulty, showing that their problem with disgust is linked to a failure to recognize this emotion in others and not a comprehension or response criterion effect. Impaired recognition of disgust is consistent with the neurology of OCD and with the idea that abnormal experience of disgust may be involved in the genesis of obsessions and compulsions.     

WELLBEING,SCHIZOPHRENIA AND EXPERIENCE MACHINES

In the USA and England and Wales, involuntary treatment for mental illness is subject to the constraint that it must be necessary for the health or safety of the patient, if he poses no danger to others. I will argue against this necessary condition of administering treatment and propose that the category of individuals eligible for involuntary treatment should be extended. I begin by focusing on the common disorder of schizophrenia and proceed to demonstrate that it can be a considerable harm to a person's life without causing the person to be a danger to himself. I illuminate this claim by constructing a thought experiment concerning a person who slips on a banana peel and falls into a malfunctioning version of Robert Nozick's experience machine. I propose that the reasons why we should remove the person from the machine are the same reasons why we should administer involuntary treatment to individuals with schizophrenia. I rebut three objections to the analogy and conclude that if we believe that we have a duty to provide treatment for reasons relating to a person's wellbeing, it follows that we should reject the health or safety requirement and instead broaden the category of individuals who are eligible for involuntary treatment.     

Muscle spasms associated with Sudeck's atrophy after injury.

Four patients developed abnormal involuntary movements of a limb after injury. All subsequently developed sympathetic algodystrophy with Sudeck''s atrophy and then abnormal muscle spasms or jerks of the affected limb, lasting years. Sympathetic block in three patients did not relieve the abnormal movements. Two patients obtained partial recovery spontaneously, but the other two required surgery for relief. The pathophysiology of this condition remains to be determined but the evidence suggests that it is a distinct, disabling clinical syndrome.     

Paroxysmal posterior variant alien hand syndrome associated with parietal lobe infarction: case presentation

Alien hand syndrome (AHS) is an involuntary and rare neurological disorder emerges at upper extremity. AHS is a disconnection syndrome with the symptoms of losing sense of agency and sense of ownership, and presence of involuntary autonomic motor activity. There are frontal, callosal and posterior types of AHS and each of them occurs depend on the lesions of different of the brain. Posterior variant is a rarely encountered AHS type compared to others. AHS, generally regarded as persistent, but rarely maybe observed as paroxysmal. In this article, we present 71 year old patient with right posterior parietal lobe infarction and developed posterior variant AHS on left arm 1 month after discharge from the hospital. To discriminate AHS from conditions such as extrapyramidal movement disorders and epileptic seizures that take part in differential diagnosis should be kept in mind by the clinicians. Wrong and unnecessary treatments could be prevented in this way.     

Unexplained left ventricular hypertrophy: consider a diagnosis of Fabry's disease

Lysosomal storage disorders are a group of disorders characterised by the deficiency of a specific lysosomal hydrolase. These diseases are rare, with only a few hundred patients in the Netherlands. Fabry''s disease, an X-linked lysosomal storage disorder, is caused by a deficiency of the lysosomal enzyme α-galactosidase A which results in, among other things, left ventricular hypertrophy, renal failure and cerebrovascular events. Patients with Fabry''s disease, especially males, have a decreased life expectancy. Recent studies have shown that Fabry''s disease may be much more common among patients with left ventricular hypertrophy (LVH) than previously thought. Up to 7% of male patients with left ventricular hypertrophy and up to 12% of female patients with unexplained LVH were found to suffer from Fabry''s disease. Thus, Fabry''s disease should be considered in patients with unexplained LVH. This case report summarises the main features of the disease. In addition recent developments concerning prevalence, diagnosis and the current available treatments are discussed and an algorithm on who and how to screen for Fabry''s disease is presented.     

Burkitt's Lymphoma: Remissions following Seemingly Non-specific Therapy

Long-term remissions observed in four out of eight unselected patients with Burkitt''s lymphoma following seemingly non-specific treatment with Septicemine, are described. This is regarded as strong evidence of an effective immunological response.     

Relation between nicotine intake and Alzheimer's disease.

OBJECTIVE--To study the association between Alzheimer''s disease and nicotine intake through smoking. DESIGN--Population based case-control study. SETTING--City of Rotterdam and four northern provinces of The Netherlands. SUBJECTS--198 patients with early onset Alzheimer''s disease, 198 controls matched for age and sex, and families of 17 patients in whom Alzheimer''s disease was apparently inherited as an autosomal dominant disorder. MAIN OUTCOME MEASURES--Age of onset of dementia, relative risk of Alzheimer''s disease. RESULTS--89 of 193 patients with Alzheimer''s disease had a history of smoking compared with 102 of 195 controls. Among the patients and controls with a family history of dementia, smoking was significantly less common in those with dementia (40/95 with dementia v 55/96 controls; relative risk 0.35; 95% confidence interval 0.16 to 0.78). The risk of Alzheimer''s disease decreased with increasing daily number of cigarettes smoked before onset of disease (relative risk 0.3 in those smoking greater than 21/day v 1 in non-smokers). In six families in which the disease was apparently inherited as an autosomal dominant disorder, the mean age of onset was 4.17 years later in smoking patients than in non-smoking patients from the same family (p = 0.03). CONCLUSIONS--These findings suggest an inverse association between smoking and Alzheimer''s disease, although smoking cannot be advocated for other health reasons. We speculate that nicotine may have a role in the aetiology of both Alzheimer''s disease and Parkinson''s disease.     

Family caregivers' experiences of involuntary psychiatric hospital admissions of their relatives--a qualitative study

Background

Family caregivers of people with mental disorders are frequently involved in involuntary hospital admissions of their relatives.

Objective

To explore family caregivers'' experience of involuntary admission of their relative.

Method

30 in-depth interviews were conducted with family caregivers of 29 patients who had been involuntarily admitted to 12 hospitals across England. Interviews were analysed using thematic analysis.

Results

Four major themes of experiences were identified: relief and conflicting emotions in response to the relative''s admission; frustration with a delay in getting help; being given the burden of care by services; and difficulties with confidentiality.Relief was a predominant emotion as a response to the relative''s admission and it was accompanied by feelings of guilt and worry. Family caregivers frequently experienced difficulties in obtaining help from services prior to involuntary admission and some thought that services responded to crises rather than prevented them. Family caregivers experienced increased burden when services shifted the responsibility of caring for their mentally unwell relatives to them. Confidentiality was a delicate issue with family caregivers wanting more information and a say in decisions when they were responsible for aftercare, and being concerned about confidentiality of information they provided to services.

Conclusion

Compulsory admission of a close relative can be a complex and stressful experience for family caregivers. In order for caregivers to be effective partners in care, a balance needs to be struck between valuing their involvement in providing care for a patient and not overburdening them.     

Focal hyperhidrosis: diagnosis and management

HYPERHIDROSIS, A CONDITION CHARACTERIZED by excessive sweating, can be generalized or focal. Generalized hyperhidrosis involves the entire body and is usually part of an underlying condition, most often an infectious, endocrine or neurologic disorder. Focal hyperhidrosis is idiopathic, occurring in otherwise healthy people. It affects 1 or more body areas, most often the palms, armpits, soles or face. Almost 3% of the general population, largely people aged between 25 and 64 years, experience hyperhidrosis. The condition carries a substantial psychological and social burden, since it interferes with daily activities. However, patients rarely seek a physician''s help because many are unaware that they have a treatable medical disorder. Early detection and management of hyperhidrosis can significantly improve a patient''s quality of life. There are various topical, systemic, surgical and nonsurgical treatments available with efficacy rates greater than 90%–95%.Hyperhidrosis, or increased production of sweat, can have a deeply detrimental effect on a patient''s quality of life, resulting in dramatic impairments of daily activities, social interactions and occupational activities.^1,2 It can be generalized, involving the whole body, or focal, involving a limited body area, most often the feet, armpits, hands or face. It is as common a disorder as psoriasis.³ However, patients rarely seek a physician''s help because many are unaware that they have a treatable medical disorder. In this article, we review the possible causes, pathophysiology, diagnosis and clinical manifestations of focal hyperhidrosis as well as the wide range of treatment modalities available today.     

Sleep Cystometrography: A Preliminary Study of Bladder Function During Sleep

Bladder function during sleep was studied by the use of a cystometer which recorded detrusor contractions and intravesical pressure as urine accumulated in the bladder during diuresis. The cystometrographic tracing was obtained while the patient was awake. A detrusor contraction can occur during sleep. Results of such studies on five patients are presented, with photographs of representative cystometrographic tracings.The general pattern of the cystometrogram during sleep was found to be different from that obtained while the patient was awake. A detrusor contraction can occur during sleep and may subsequently: (a) subside without awakening the patient; (b) be associated with the involuntary escape of urine or flatus; or (c) cause the patient to awaken. It is suggested that detrusor contractions rather than increases in urinary volume are responsible for the individual''s awakening at night to urinate.In the light of these observations, further study of patients with enuresis and those with non-obstructive nocturia is required.     

A 'sticky' interhemispheric switch in bipolar disorder?

Despite years of research into bipolar disorder (manic depression), its underlying pathophysiology remains elusive. It is widely acknowledged that the disorder is strongly heritable, but the genetics are complex with less than full concordance in monozygotic twins and at least four susceptibility loci identified. We propose that bipolar disorder is the result of a genetic propensity for slow interhemispheric switching mechanisms that become ''stuck'' in one or the other state. Because slow switches are also ''sticky'' when compared with fast switches, the clinical manifestations of bipolar disorder may be explained by hemispheric activation being ''stuck'' on the left (mania) or on the right (depression). Support for this ''sticky'' interhemispheric switching hypothesis stems from our recent observation that the rate of perceptual alternation in binocular rivalry is slow in euthymic subjects with bipolar disorder (n = 18, median = 0.27 Hz) compared with normal controls (n = 49, median = 0.60 Hz, p < 0.0005). We have presented evidence elsewhere that binocular rivalry is itself an interhemispheric switching phenomenon. The rivalry alternation rate (putative interhemispheric switch rate) is robust in a given individual, with a test-retest correlation of more than 0.8, making it suitable for genetic studies. The interhemispheric switch rate may provide a trait-dependent biological marker for bipolar disorder.     

Levodopa combined with peripheral decarboxylase inhibition in Parkinson's disease

The authors report their experience, over a 26-month period, in the management of 60 parkinsonian patients with the combination of levodopa and an inhibitor of peripheral dopa-decarboxylase, Ro 4-4602. This approach to Parkinson''s disease is useful, safe, and at least as effective as levodopa alone. To date there have been no recognizable toxic effects attributable to Ro 4-4602. This agent appears to prolong the duration of action of levodopa, smoothing out its therapeutic effects. The percentage of patients obtaining a very good and excellent response is slightly increased. There is a possible diminution in the late-occurring bradykinetic and hypotonic freezing episodes. Nausea and cardiac arrhythmias are lessened, as are the incidence and severity of hypotension. Abnormal involuntary movements remain the limiting adverse side effect.     

L-Dopa Therapy in Parkinson's Disease: A Critical Review of Nine Years' Experience

The last 10 years have seen great activity in the investigation of cerebral catecholamines, particular attention having been paid to dopamine. The low dopamine content in the basal ganglia and in the urine of patients with Parkinson''s disease led to the logical use of the precursor DOPA in the treatment of this disorder. Between 1961 and 1966, both the oral and the intravenous routes were utilized and some effects were noted upon akinesia and rigidity. The doses then used were low and the results remained somewhat controversial. When higher oral levels of L-dopa were introduced, the beneficial action of L-dopa upon parkinsonian symptoms and signs was proved beyond doubt, but there came to light a number of troublesome side effects, the worst of which were hypotension and a variety of abnormal involuntary movements. Recently, new approaches to the therapy have been tried and the sum total of these observations is to challenge our peace of mind regarding a seemingly logical chain of events. We are convinced that such second thoughts will eventually result in better and safer methods of treating this too frequent and disabling neurological disorder.     

Measurement of activity of urea resistant neutrophil alkaline phosphatase as an antenatal screening test for Down's syndrome.

OBJECTIVE--To investigate the value of measuring maternal urea resistant neutrophil alkaline phosphatase activity as an antenatal screening test for Down''s syndrome. DESIGN--Case-control study of blood samples collected at nine to 27 weeks of pregnancy. SETTING--Antenatal clinics in London and Oxford. PATIENTS--72 Women whose fetuses had been diagnosed by amniocentesis or chorionic villus sampling as having Down''s syndrome and 156 women whose fetuses did not have the syndrome. Only singleton pregnancies were studied. MAIN OUTCOME MEASURE--Activity of urea resistant neutrophil alkaline phosphatase measured cytochemically. RESULTS--The median enzyme activity in the index patients was 1.65 times the expected median for the controls at the same duration of pregnancy (p less than 0.0001; 95% confidence interval 1.56 to 1.74). A cut off value that identified the 5% of control patients with the highest activities yielded a rate of detection of Down''s syndrome of 79% (95% confidence interval 70 to 89%). CONCLUSION--Activity of urea resistant neutrophil alkaline phosphatase is an effective maternal blood marker for Down''s syndrome. Its use in antenatal screening could lead to a substantial improvement in the detection of this disorder. Before introducing the test into routine medical practice it will have to be automated so that it can be used on a large scale and is less subjective.     

Immunological mechanisms in the pathogenesis of vinyl chloride disease.

Vinyl chloride (VC) disease is a multisystem disorder incorporating Raynaud''s phenomenon, acro-osteolysis, thrombocytopenia, portal fibrosis, and hepatic and pulmonary dysfunction. Immunological and immunochemical investigations showed the presence of circulating immune complexes in 19 out of 28 patients with the disease and in a further two out of 30 workers exposed to VC. The immunological data were reviewed in relation to the clinical picture of the disease and to the available evidence on the metabolism of VC. The results suggest that VC disease is an immune complex disorder and that the immune response is initiated by the adsorption of VC or a metabolite on to tissue or plasma protein.     

Simultaneous Measurement of Amyloid Fibril Formation by Dynamic Light Scattering and Fluorescence Reveals Complex Aggregation Kinetics

An apparatus that combines dynamic light scattering and Thioflavin T fluorescence detection is used to simultaneously probe fibril formation in polyglutamine peptides, the aggregating subunit associated with Huntington''s disease, in vitro. Huntington''s disease is a neurodegenerative disorder in a class of human pathologies that includes Alzheimer''s and Parkinson''s disease. These pathologies are all related by the propensity of their associated protein or polypeptide to form insoluble, β-sheet rich, amyloid fibrils. Despite the wide range of amino acid sequence in the aggregation prone polypeptides associated with these diseases, the resulting amyloids display strikingly similar physical structure, an observation which suggests a physical basis for amyloid fibril formation. Thioflavin T fluorescence reports β-sheet fibril content while dynamic light scattering measures particle size distributions. The combined techniques allow elucidation of complex aggregation kinetics and are used to reveal multiple stages of amyloid fibril formation.