Outcome of stroke in patients with sickle cell disease

Cerebral vasculopathy is a major cause of morbidity in sickle cell disease (SCD). We report the first UK population-based study of stroke in SCD. Of 669 SCD patients (HbSS 429, HbSC 193, HbS-thalassaemia 48, HbSO 1) followed at the King's College hospital between 1970 and 1995, 21 (3.1 percent) developed stroke. A further ten patients were referred. 29 had HbSS and 2, HbSC. 3 (10 percent) suffered subarachnoid haemorrhage, the remaining 28 strokes were ischaemic. Median age at initial stroke was 6 years (19 mo- 31 yr) with 24 (80 percent) patients aged >10. Precipitating factors included parvovirus associated aplastic crisis in 2/25 98 percent) evaluable patients and bacterial meningitis in 2 (8 percent). 9 (36 percent) patients experienced transient neurological disturbance prodromally. 27 (87 percent) presented with paresis, 5 (16 percent) cranial nerve defects. 11 (35 percent) dysphasia and 3 (10 percent) seizures. No patient died during the acute episode. Patients with stroke had significantly lower Hb and higher WCC at age 1 compared to matched controls. Exchanged transfusion was performed with 26 patients following which 15 (58 percent) recovered neurologically. 19 patients subsequently entered a transfusion programme to maintain HbS <30 percent. Transfusion was stopped in 10 patients. Of these, 6 (60 percent) had recurrent stroke at a median of 4.5 months. A similar recurrence rate (50 percent) was observed among patients who did not receive regular transfusion whilst no patient maintained on monthly transfusions suffered further stroke. Recurrence was more common in patients suffering initial stroke at an early age and in whom no trigger was identified. Median follow-up after initial stroke is 8 years. 14 (45 percent) patients have no residual neurological deficit, 6 (19 percent) are severely disabled, 13 (42 percent) have learning disabilities and 7 (23 percent) epilepsy. There were two deaths in both patients with recurrent stroke. 1 patient with moyamoya-type disease has undergone extracranial-intracranial bypass and 1 allogeneic-BMT. In conclusion, whilst transfusion is effective in prevention of further stroke, cessation is associated with a high rate of recurrence which frequently results in severe physical and/or neuropsychological disability. The 6.5 percent mortality following stroke supports the rationale for early consideration of allogeneic-BMT in these patients. (AU)

Neonatal Screening for Haemoglobinopathies in South East London: findings and comparisons with Jamaica

INTRODUCTION: Neonatal screening for sickle cell disorders has been shown to reduce mortality and morbidity. Methods of screening vary but in 1994, the local Health Authority funded universal neonatal screening across the whole of Lambeth, Southwark and Lewisham. This paper will report the findings of the first three years of operation of the programme and compare findings with the screening programme currently operating in Jamaica. METHOD: since May 1994 dried bloo[d] spots of all infants have been screened at King's College Hospital and screen positive cases followed up by counsellors. Infants are followed up at four sites (Guy's, King's, Lewisham and St.Thomas') according to parental preference. Minimum standards for follow-ups have been agreed by clinicians across all four sites and information of the success in achieving these standards is now being collected. RESULTS: Overall there have been 122 affected infants detected in the first two years 10 months of the programmes operation. This is made up of 83 HbSS, 35 HbSC, 4HbSBThal. This gives a birth preference of 23.4 per 1000 total population (2.3HbSS, 1.0 HbSC). Allowing for a termination rate of 20 percent this indicates that the expected birth prevalence in the district would be 4.2 per 1000 births. This compares with birth prevalence of of 0.3 per 1000 for congenital hypothyroidism, 06. per 1000 for cystic fibrosis and 0.1 for phenylketonuria. The distribution of the births is unevem with 57 in Southwark, 40 in Lambeth and 25 in Lewisham. The paper will report on the follow-up and outcome of care provided for this population to date. Discussion: South East London has the highest prevalence of sickle cell disorders of any district in the UK. Sickle cell disorder is now as common in South East London as it is in Jamaica. The follow-up arrangements established in South East London provide an opportunity for colloboration with the West Indies which may help to determine some of the reasons for differences in the natural course of the disease in these populations. The population based approach established should allow monitoring of the impact of community education and antenatal screening programmes on the birth prevalence over time. (AU)

Improving the effectiveness of screening for haemoglobinopathies in primary and community care in Lambeth: antenatal findings

An antenatal screening programme for haemoglobinopathies aims to allow couples to make informed choices about reproductive options. Screening must be carried out early in pregnancy and must be supported with accurate information and a genetic counselling service. An audit in 1990 at St. Thomas' found that couples were referred for genetic counselling late in pregnancy or not at all. The aim of the study was to icrease the uptake of screening and counselling in the antenatal clinic by improving midwives knowledge of the condition and available counselling services. A research worker was employed to evaluate the intervention. METHODS: Knowledge of haemoglobionpathies, genetic risk and available services was assessed by means of a questionnaire. An audit of ante-natal screening was undertaken before and after the introduction of specific guidelines and a porforma by reviewing over 1400 antenatal notes of those recieving community or shared care. Laboratory data on the number of tests requested for both the women and their partners was obtained for the year of the first audit. RESULTS: 23/44 midwives completed the questionnaire (65 percent). Analysis of the responses indicated that hospital midwives were better informed on every question. There was a significant difference (p<<0.001 in the proportion of questions answered correctly by hospital midwives compared to community midwives (77 percent of 45 percent, 95 percent CI 17-45 percent). (AU)

Natural history of isolated atrial flutter in infancy.

To clarify the natural history of isolated (i.e., without associated congenital cardiac anomalies) atrial flutter in infancy, we reviewed the clinical course in nine patients who were seen with this arrhythmia in the first year of life (range 1 day to 4 months). Atrial flutter was identified by the typical sawtooth pattern in leads II, III, and aVF of the surface electrocardiogram or the pattern of atrial flutter on an atrial electrogram recorded through the esophagus. The mean cycle length of the atrial flutter was 151 msec (atrial rate 397 beats/min). Six of the nine patients had other perinatal problems, such as immune and nonimmune hydrops fetalis (two patients), pneumonia (one patient), anemia (five patients), or low birth weight (one patient). In all patients the rhythm reverted to normal, either spontaneously (two patients), with overdrive pacing (four patients), or after oral digoxin therapy (three patients). No consistent temporal relationship between digoxin administration and conversion was observed; conversion was instantaneous in the four patients who received atrial overdrive pacing. Four patients were discharged receiving digoxin therapy (6 months to 1 year). One patient had supraventricular tachycardia after discharge that was controlled with digoxin. No recurrence of atrial flutter was observed among the nine patients during a mean follow-up of 6.8 years (range 0.2 to 20 years). We conclude that isolated atrial flutter in infancy is rare, has a good prognosis, may be related to transient perinatal events, and often spontaneously converts to normal sinus rhythm; however, when it does not, it will respond to transesophageal pacing. Acute and chronic digoxin therapy is probably unnecessary.

Psychosocial responses of children to cardiac pacemakers.

To examine the psychosocial responses of children and adolescents with a cardiac pacemaker and compare their responses to those of their peers, we evaluated 30 pediatric pacemaker patients, aged 7 to 19 years, and two age- and sex-matched comparison groups, including 30 patients with similar heart disease but without pacemakers and 30 physically healthy children, using standardized psychometric tests and a specific interview format. We postulated that children with pacemakers would experience greater stress in psychosocial adaptation. No significant differences on standardized measures of trait anxiety, self-competence, or self-esteem were found between the pacemaker group and the comparison groups. In contrast, pacemaker subjects were significantly (p less than 0.05) more external in their locus-of-control orientation than were healthy subjects, suggesting a diminished sense of personal control and less autonomy. Pacemaker subjects, particularly the older ones, had significantly (p less than 0.05) greater knowledge of pacemaker systems than did subjects in the other two groups, facilitating the use of intellectualization as a coping mechanism. The pacemaker patients were likely to be as fearful of social rejection as of potential pacemaker failure. All three groups identified potential negative peer reactions toward an individual with a pacemaker. The patients with cardiac disease but without pacemakers and the healthy subjects perceived significant (p less than 0.05) social and emotional differences between patients with pacemakers and their peers, but the pacemaker patients did not view themselves as different from their peers. This study demonstrates healthy psychosocial adaptation of children with cardiac pacemakers. Although these children appear to cope effectively with the stress of their life situation through the use of denial and intellectualization, they may experience problems both in the development of autonomy and in social isolation and rejection.

Interrupted aortic arch in infancy.

Data from 30 infants with interrupted aortic arch in the New England Regional Infant Cardiac Program, 1968 to 1974, were reviewed. All patients had major associated cardiac abnormalities: approximately one third had ventricular septal defect with patent ductus arteriosus, one third had complex ventricular septal defect with left ventricular outflow obstruction, and one third had complex intracardiac lesions incompatible with survival. Twenty-one of the patients had either palliative or reconstructive surgery, with a hospital mortality rate of 76%. Nine patients did not have surgery; eight of them died at a median age of four days. One-stage primary repair of interrupted aortic arch including the associated cardiac defects, using deep hypothermia and circulatory arrest, is proposed as the current method of treatment in such infants.