‘You don't get told anything,they don't do anything and nothing changes’. Medicine as a resource and constraint in progressive ataxia

Background

Progressive ataxias are neurological disorders affecting balance, co‐ordination of movement and speech.

Objective

A qualitative study was undertaken to discover patients'' experiences of ataxia and its symptoms.

Participants

Thirty‐eight people with ataxia recruited from patient support groups and two hospital outpatients departments.

Design

Cross‐sectional qualitative study with thematic analysis.

Results

These accounts highlight the limits of medicine in the context of a rare, incurable and disabling disorder, and the embodied uncertainties brought by slowly progressive diseases that lie at the boundaries of mainstream medical knowledge. The existential crises faced by people with ataxia are seemingly magnified by sometimes idiopathic aetiologies and the limited number of inherited conditions identifiable by the available genetic tests. Interviewees were drawn into a medical system that was focused mainly on the diagnosis process, with widely varying results. However, when asked, most had rather valued the provision of disability aids and physical therapies. Only one informant reported overcoming the myriad uncertainties of progressive ataxia, and their account supported the notion of ‘biographical repair’ in chronic illness.

Conclusions

Clinical uncertainties in ataxia constrained people''s attempts to deal with their condition. The construction of the proactive, informed, medical consumer who is assumed to be a partner in care is problematic in the context of a rare and difficult‐to‐diagnose disease for which there is usually no cure. Service providers should be mindful of the need to manage patient expectations in relation to diagnosis and cure. More focus might usefully be placed on the provision of physical therapies and disability aids.     

Towards the twenty‐first century

It is suggested that the change in thought and technology in France, North America and England in the late 18th century is paralleled in the change in contemporary modes of behaviour and ways of looking at the self. The philosophy articulated at that time was by the philosophers of the Enlightenment and poets of Romanticism. Contemporary psychologies are concerned with the structure of the individual psyche and with social organization.

In this nuclear age we are threatened by nuclear war, over‐population and ecological imbalance, with irreversible destruction of living and technological resources. The contemporary philosophical and technological changes are on a global basis, as is the current conflict reflecting a war of man against himself. This can lead to either complete annihilation of humanity or to a re‐appraisal through a holistic approach to ourselves and our planet, based on internationalism.     

A survey of 22 individuals with Prader-Willi Syndrome in New South Wales

Abstract Twenty-two individuals with Prader-Willi Syndrome in New South Wales were surveyed. The results show that males were diagnosed at a significantly earlier age than females and suggest a recent trend towards earlier diagnosis. The advantages of early diagnosis are discussed. In those in whom cytogenetic studies had been performed, 47% were found to have a deletion involving chromosome 15q11–13. Profound neonatal hypotonia had been present in all cases. Obesity became apparent between 1.5 and 10 years (mean = 3.8 years). Facial dysmorphism was reported in 83% and acromicria in 100%. Sixty-two per cent of subjects were regarded as less pigmented than first degree relatives. Cognitive assessments were performed on nine subjects. Two (22%) were functioning in the normal range of intelligence. Behaviour problems, both food-related and non-food-related, were present in the majority and placed considerable stress on the family caring for the individual with Prader-Willi Syndrome.     

Typhoid fever in Hong Kong children

Abstract Experience with typhoid fever in 111 children over a 5-year period was reviewed. There were 66 boys and 45 girls, ranging in age from 1 to 11.5 years. The symptoms of typhoid fever were quite non-specific. Fever was the most common presenting symptom (in 98.3%). Other common presenting features were diarrhoea (25.7%), constipation (22%), vomiting (21.1%), cough (25%), abdominal pain (27.5%), headache (9.2%), epistaxis, meningism and convulsions. Rose spots were detected in 20% of cases, occurring mainly during the first 2 weeks of illness. Significant Widal reactions were present in 84.7% of cases. Blood and stool cultures were positive in 57% and 44% of cases, respectively. Peripheral blood white cell counts were not found to be of great diagnostic value. Chloramphenicol remained the drug of choice in the treatment of typhoid fever. It was more effective than ampicillin or co-trimoxazole. Complications were uncommon, occurring in only two patients. There were two deaths; both were admitted late and in moribund state. Early diagnosis and treatment is vital in typhoid fever and, as the presenting features are non-specific, a high index of suspicion is required.     

Maternal Smoking, Urinary Cotinine Levels and Birth-Weight

The smoking habits of 300 consecutive pregnant women and of other members of their household were obtained by interview at 16 and 32 weeks' gestation and after delivery. Urine samples for estimation of cotinine were collected at the same times during pregnancy and on admission in labour. Both self-reports of active maternal smoking and urinary cotinine levels were significantly associated with lighter babies but urinary cotinine correlated the better. Active maternal smoking was associated with a decrease in birth-weight of 12 g for every cigarette smoked in a day while there was a decrease of 25 g in birth-weight for every microgram of cotinine/mg of urinary creatinine. Passive maternal smoking was associated with a decrease of 66 g in mean birth-weight but this decrease was not statistically significant. Self-reports of active and passive smoking accounted for 43% of the variation in urinary cotinine levels suggesting that urinary cotinine assays can be used to assess and monitor exposure to tobacco smoke in pregnancy.     

Fetal Arrhythmias: A 3-Year Experience*

Eight cases of fetal arrhythmia were seen over a 3-year period. Two had atrial and/or ventricular extrasystoles, 1 had complete atrioventricular block and 5 had tachyarrhythmias--3 supraventricular tachycardia, 1 atrial flutter and 1 ectopic atrial tachycardia. All had structurally normal hearts. Nonimmune hydrops fetalis was the initial presentation in 3 of the 5 cases with tachyarrhythmias. There were 2 deaths--a stillbirth and a neonatal death, while 2 others required neonatal intensive care. The 6 survivors have remained well and are now off treatment. The diagnosis, careful assessment and management of a fetal arrhythmia may lead to a successful outcome. The complexity of the problems experienced may warrant early referral to a tertiary centre where the overall management of the mother, fetus and neonate, may be undertaken.     

Toxic Shock Syndrome Presenting to a Paediatric Service

Summary: A case of toxic shock syndrome occuring in a 13-year-old and presenting to a paediatric service is described. Some implications are discussed including an approach to menstrual protection and the question of future contraceptive needs.