The role of palliative care in advanced muscular dystrophy and spinal muscular atrophy.

OBJECTIVE: This study examines the potential role for palliative care services in the care of individuals with muscular dystrophy and spinal muscular atrophy, and the support of their families. METHODOLOGY: Semistructured interviews were conducted in South Australia with nine bereaved and four current family members of individuals with muscular dystrophy or spinal muscular atrophy. Issues explored during interview included: (i) the family perceptions of the difficulties in caring; (ii) the psychological and physical resources which were available to assist them; and (iii) family recall of the management of the terminal phase of the illness. RESULTS: Significant issues identified included: (i) a lack of coordination of care and access to skilled, competent carers; (ii) a lack of support for siblings; (iii) inadequate bereavement care; and (iv) limited discussion of options of ventilatory support and advance directives. CONCLUSIONS: The terminal care for individuals with muscular dystrophy and spinal muscular atrophy and their families requires improvement. Although many individuals with these conditions will die following an acute event, palliative care services may be appropriate for those who require a period of terminal care at home.

Botulinum toxin A versus fixed cast stretching for dynamic calf tightness in cerebral palsy.

OBJECTIVE: To compare botulinum toxin A injections with fixed plaster cast stretching in the management of cerebral palsied children with dynamic (i.e. non-fixed) calf tightness. METHODS: The settings were the Women's and Children's Hospital (WCH) and the Crippled Children's Association of South Australia (CCA), Adelaide, South Australia. Twenty children were selected by two paediatric rehabilitation specialists. A prospective, randomized, single-blind controlled study, was carried out, with 10 children in each arm. The clinicians were blinded as to the allocated interventions. The outcome measures for 6 months post intervention were clinical assessment, modified Ashworth Scale, Gross Motor Function Measure, 2 D-video ratings using a modified Physical Rating Scale and a global scoring scale and a parent satisfaction questionnaire. RESULTS AND CONCLUSION: Botulinum toxin A injections were of similar efficacy to serial fixed plaster casting in improving dynamic calf tightness in ambulant or partially ambulant children with cerebral palsy. The ease of outpatient administration, reduction of muscle tone and safety with botulinum toxin A was confirmed. Parents consistently favoured botulinum toxin A and highlighted the inconvenience of serial casting.

Preliminary study of glycopyrrolate in the management of drooling.

OBJECTIVE: A study was undertaken to assess the efficacy of an oral anticholinergic drug, glycopyrrolate, in the management of drooling in children and young adults with disabilities. METHODOLOGY: Glycopyrrolate was used by 24 children and young adults for up to 28 months. Parents/carers were asked to complete a questionnaire on the effects of the drug on severity and frequency of drooling and to report any side-effects. RESULTS: Twenty-two questionnaires were returned. There was a statistically significant decrease in both severity and frequency of drooling with minimal side-effects reported. CONCLUSION: In this preliminary study, glycopyrrolate was found to be an effective and well-tolerated addition to the management of drooling in children with disabilities.

Spinal fusion in Duchenne's muscular dystrophy.

The Women's and Children's Hospital experience with Luque spinal fusion in Duchenne's muscular dystrophy was reviewed from its commencement in 1983 to the present with a view to assessing the clinical and radiologic outcome and safety of the procedure. Seventeen boys have undergone spinal fusion. L-rod instrumentation was used in 10, six of whom had significant problems with sitting imbalance or progression of the scoliosis or both. In seven cases, distal instrumentation was taken to the pelvis with a Galveston construct and rigid crosslinking. Apart from some progression and sitting imbalance in the L-rod group, there were few complications. In the Galveston group, pelvic obliquity was corrected by a mean of 63%, and there was better maintenance of correction. There were no pseudoarthroses or instrument failures in the Galveston group. Of the total group, four patients had forced vital capacity (FVC) values < 25% predicted, and two required ventilation postoperative (< 48 h). There were no other respiratory complications. The effect of surgery on respiratory function remains uncertain. Spinal fusion with the Luque rod construct and pelvic fixation is a safe procedure. It provided a mean correction of 60% and control of pelvic obliquity without significant postoperative deterioration. In our experience, surgery can be safely performed with FVC value down to 20% predicted. On the basis of these data, one current practice is to instrument to the pelvis with a Galveston construct and Texas Scottish Rite Hospital cross-linking.

Effect of spinal surgery on lung function in Duchenne muscular dystrophy.

BACKGROUND: The effect on subsequent respiratory function of spinal stabilisation for scoliosis in Duchenne muscular dystrophy is unclear. In order to clarify this clinical problem, changes in the forced vital capacity of a group of children with Duchenne muscular dystrophy who had undergone spinal surgery were measured and compared with a group of children with Duchenne muscular dystrophy who had not had surgery. METHODS: In this retrospective study 17 boys with Duchenne muscular dystrophy who underwent spinal stabilisation at a mean age of 14.9 years (surgical group) were compared with 21 boys with Duchenne muscular dystrophy who had not had surgery (non-surgical group). The mean (SD) Cobb angle of the surgical group at 14.9 years was 57 (16.4) degrees, and of the non-surgical group at 15 years was 45 (29.9) degrees. Forced vital capacity expressed as percentage predicted (% FVC) was measured in total over a seven year period in the surgical group and over 6.5 years in the non-surgical group, and regression equations were calculated. Survival curves for both groups were also constructed. RESULTS: No difference was found between spinal stabilisation (surgical group) and the non-surgical group in the rate of deterioration of % FVC which was 3-5% per year. There was no difference in survival in either group. CONCLUSIONS: Spinal stabilisation in Duchenne muscular dystrophy does not alter the decline in pulmonary function, nor does it improve survival.

The Adelaide preschool language unit: results of follow-up.

OBJECTIVE: To determine educational, social and behavioural functioning of children who had been involved in a preschool language intervention programme between 1982 and 1990. METHODOLOGY: Fifty children who attended the Unit were available for follow-up. The children were divided into three groups: (i) language disorder; (ii) speech disorder; and (iii) mixed speech and language disorder. A psychologist administered educational, cognitive and social behavioural tests. Speech, language and articulation were assessed by a speech pathologist. RESULTS: Cognitively, the 'mixed' speech and language group obtained lower scores than the speech and language disorder children; results on educational tests were also generally lower. All three groups were significantly underachieving in areas of language, reading, spelling and arithmetic relative to their performance IQ. No socialization problems were found. CONCLUSIONS: Severe speech and language disorders in young children, even after periods of intensive intervention, have a significant effect on later educational achievement even when children appear to be 'coping' in their educational settings.

Study of hemiplegic cerebral palsy with a review of the literature.

Details of 66 children with hemiplegic cerebral palsy seen over a 20 year period are presented, with comparisons between right and left hemiplegia. There were slightly more right hemiplegics than left hemiplegics. There were minor differences in the frequency of associated problems, but overall there were no major differences between right and left hemiplegics. It is likely that this is due to the greater plasticity of the immature brain. The results of this study are compared with earlier studies of hemiplegic cerebral palsy.

Phrenic nerve pacing in two young quadriplegic ventilator-dependent patients.

Patients who survive high cervical injury are usually dependent on mechanical ventilation and tracheostomy if the lesion above C3 is complete. We report our experience with phrenic nerve pacing (PNP) to achieve ventilator-independence in two young quadriplegic patients. A diaphragm conditioning programme, and combination of low frequency electrophrenic stimulation within each inspiratory burst and low breathing frequency enabled both patients initially to achieve continuous 24 hour ventilation independent of mechanical ventilation. One patient reverted to overnight mechanical ventilation (six hours) after three years. PNP should be considered in ventilator dependent patients with high cervical injury to achieve independence and improve quality of life.

High cervical cord injury: medical, nursing and psychosocial aspects of rehabilitation.

Two patients with traumatic high cervical cord injury are described. Both patients required long-term ventilatory support. Diaphragmatic pacing has been successful in meeting their ventilatory requirements and improving their quality of life. Both patients are now living in their own homes. Their medical, nursing and psychosocial needs have been met by multi-disciplinary team involvement and their ongoing support in the community.

Fukuyama congenital muscular dystrophy in two Australian female siblings.

The clinical course of two female siblings with congenital muscular dystrophy is briefly described, and includes congenital cerebral malformations consisting of pachygyria, polymicrogyria and white matter abnormalities. The first sibling died in infancy; the second is now 18 years of age. The changes found at autopsy in the first sibling are identical to MRI changes in the surviving sibling.

A controlled crossover trial of fenfluramine in autism.

We report a 12 month double-blind randomized crossover trial of fenfluramine in 20 children with the syndrome of autism. On active drug most of the children lost weight and blood serotonin levels fell by an average of 60%. There was a fall in urinary dopamine (DA) and noradrenaline (NA) levels and increased excretion of homovanillic acid (HVA). Some of the children showed improvement in tests of cognitive and language function, although the results did not achieve overall statistical significance. Event-related brain potentials (ERPs) were obtained in seven subjects on an auditory choice reaction time task. Side effects of the drug included irritability and lethargy. Fenfluramine may have a limited place in the management of some patients with autistic disorder.

Event-related potentials and monoamines in autistic children on a clinical trial of fenfluramine.

In a double blind, crossover study of the response of autistic subjects to fenfluramine, event-related potentials (ERPs) were recorded from 7 subjects on an attention-demanding auditory choice reaction time task (ACRT). ACRT, IQ and biochemical measures were taken after 5 months placebo and 5 months fenfluramine treatment. After fenfluramine treatment blood serotonin levels fell, urinary catecholamine levels fell and the HVA/DA ratio rose. IQ and ACRT performance improved. On the ACRT subjects were asked to press a button to a rare target (500 Hz, P = 0.14) and to ignore higher pitched rare (2,000 Hz, P = 0.14) and frequent non-targets (1,000 Hz). After fenfluramine treatment N1 latencies increased. The scalp distribution of ERP maxima changes slightly with treatment. P3 maxima elicited by rare non-targets were recorded more rostrally after fenfluramine treatment. After rare non-targets N1 amplitudes at Fz decreased but P3 amplitudes at Pz increased. Early negativity after the rare non-target (particularly on the right side) was negatively correlated with the HVA/DA ratio. Subtraction of the P3 component elicited in a passive condition where no response was required from the active condition showed that P3 positivity to targets was halved with treatment. (In contrast Nd increased on fenfluramine treatment). Overall, N1 and P3 components showed greatest responsiveness to rare non-targets on fenfluramine. N1 but not P3 changes may represent slight improvement of attention-related function with treatment. Small changes in ERP latency and distribution, associated with the neuroleptic action of fenfluramine may be partly responsible for a mild improvement of IQ and ACRT performance on medication.

Functional electrical stimulation for upper limb strengthening in traumatic quadriplegia.

The hypothesis of this study was that the functional electrical stimulation (FES)-assisted exercise of partially paralyzed arm muscles would result in significantly greater muscle strength in the arms of spinal cord injured quadriplegics than equal periods of conventional isotonic exercise. Single muscles were studied in seven subjects in a crossover design consisting of equal periods of FES-assisted exercise and conventional exercise. It was concluded that for these subjects using this exercise regime, neither FES-assisted exercise nor conventional exercise produced improvements in maximum voluntary force that were either statistically or functionally significant. The results, although disappointing, have helped these subjects to be more realistic about the potential therapeutic benefits of FES.

Training inspiratory resistance in Duchenne dystrophy using adapted computer games.

Computer games were modified to encourage respiratory effort by two groups of patients with Duchenne muscular dystrophy. One group trained during the first six months of the study, the other during the second six months. Inspiratory effort was increased by their having to breathe through a mask to both start and continue the games. Pulmonary function tests were done at the beginning of the trial and six, 12 and 18 months later, when forced vital capacity, respiratory muscle endurance and strength were measured. Although there were some individual improvements, over-all the results were not statistically significant.

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.

A South Australian study of pregnancy and birth risk factors associated with cerebral palsy.

Using the Perinatal Statistics Collection compiled by the Pregnancy Outcome Unit of the South Australian Health Commission, a profile of statistically significant risk factors for cerebral palsy has been established for a South Australian population. Logistic regression analysis revealed that these factors included threatened miscarriage, ante-partum haemorrhage, maternal age of under 20 years, shortened gestational age, low birthweight, low Apgar score at 5 minutes, foetal distress, delay in establishing spontaneous regular respiration, presence of a congenital abnormality and prolonged hospital stay. In addition, pregnancy hypertension, reduced number of antenatal visits, breech presentation, resuscitation of the neonate by intubation and intermittent positive pressure ventilation, and the need for specialised nursery care were found to be significant in univariate analyses. These data point to the risk factors which may help identify infants who require closer monitoring for early signs of cerebral palsy.

Investigation of scoliosis in Duchenne dystrophy using computerized tomography.

In order to determine the role of the spinal muscles in the etiology of the scoliosis associated with Duchenne muscular dystrophy, we carried out a study of 16 children using computerized tomography. Scans were taken at the level of the 9th dorsal and the 3rd lumbar vertebrae. Density readings were taken in the medial and lateral portions of the erector spinae. The results confirmed the loss of muscle and replacement by fat which was greater on the concave side. The density differences between the convex and concave sides correlated with the degree of curvature measured by Cobb's method. Computed tomography may offer a prognostic indicator in the development of scoliosis.