[18 years experience with mechanical ventilation in patients with Duchenne muscular dystrophy]. / 18 jaar ervaring met chronische beademing bij patiënten met spierdystrofie van Duchenne.

OBJECTIVE: To find out which patients with Duchenne muscular dystrophy are eligible for starting home mechanical ventilation and what the survival rate is. DESIGN: Retrospective. METHOD: In 48 patients with Duchenne muscular dystrophy who were treated with home ventilation from 1987, the results were assessed in the follow-up visit in February 2005. Initially, ventilation was only given through a tracheotomy (TPPV), but after starting up a multidisciplinary neuromuscular consultation, non-invasive ventilation (NIPPV) was offered in an earlier stage of the disease. The following data were derived from the outpatient medical record: indication for ventilation, vital capacity (VC), arterial blood gas values, duration of ventilation up to February 2005, survival and causes of death. RESULTS: 15 patients died. The 5-year survival rate was 75% from the start of mechanical ventilation and 67% (18/27) of the patients were still living at home at the time of the follow-up visit. The most important causes of death were cardiomyopathy (5/15) and tracheal bleeding (3/15). The group of patients who started ventilation before 1995 (n = 17) had a significantly smaller VC than the group (n = 31) who started after the neuromuscular consultation was set up. The PaCO2 during daytime was significantly higher in the group that started ventilation before 1995 compared to the group that started later. CONCLUSION: Home mechanical ventilation can be implemented effectively in patients with Duchenne dystrophy, with a 5-year survival of 75%.

Movement analysis in neonates with spina bifida aperta.

INTRODUCTION: In neonates with spina bifida aperta (SBA), leg movements by myotomes caudal to the meningomyelocele (MMC) are transiently observed. It is unclear whether these leg movements relate to functional neural conduction through the MMC. For optimal therapeutical intervention, pathophysiological insight in these transient leg movements seems relevant. If leg movements by myotomes caudal to the MMC concur with the execution of general movements (GMs), functional neural conduction through the MMC is implicated. OBJECTIVE: In neonates with SBA, we aimed to determine whether the transiently present leg movements caudal to the MMC indicate functional neural conduction through the MMC. METHODS: During the perinatal period, fetuses and neonates with SBA (n = 7 and n = 13, respectively) were longitudinally analysed for concurrency between leg movements caudal to the MMC and GMs. To address the integrity of the reflex arc in spinal segments (at, or) caudal to the MMC, tendon leg reflexes were assessed during the first postnatal week. RESULTS: At postnatal day 1, leg movements caudal to the MMC concurred with GMs in 12 of 13 infants. Isolated leg movements were observed in only 3 of these 12 infants (isolated vs. concurrent; p < 0.005). Leg movements concurring with GMs lasted longer than isolated leg movements (median duration = 11 s vs. 2 s; p < 0.05). Between days 1 and 7, tendon leg reflexes (at, or) caudal to the MMC had disappeared in all but 1 neonate. However, leg movements caudal to the MMC remained concurrently present with GMs in all five neonates available for follow-up after day 7. Comparing these leg movements between days 1 and 7 indicated a decreased duration (-44%, p < 0.05). CONCLUSIONS: In neonates with SBA, leg movements caudal to the MMC concur with GMs, indicative of functional neural conduction through the MMC. The disappearance of these leg movements is caused by lower motor neuron dysfunction at the reflex arc, whereas neural conduction through the MMC is still functional.

Low-dose bromocriptine therapy in Parkinson's disease: double-blind, placebo-controlled study.

Twenty-one de novo parkinsonian patients in stage I to III of the Hoehn and Yahr scale completed a 6-month, double-blind, placebo-controlled study. Low-dose bromocriptine (15 mg daily) was effective. Rigidity improved more than tremor or bradykinesia. Sustained satisfactory benefit was seen only in patients with mild Parkinson's disease.

Perinatal motor behaviour and neurological outcome in spina bifida aperta.

AIM OF THE STUDY: In the present longitudinal study we investigated the relationship between prenatal motor behaviour and the postnatal neurological sequelae of infants with spina bifida aperta. METHODS AND PATIENTS: Prenatal isolated leg movements and general movements of 13 fetuses/infants with spina bifida aperta were assessed by means of ultrasound recordings, and were compared with: 1. the spinal level of morphological defect (meningo-myelocele), 2. the postnatal motor behaviour, 3. the postnatal sensory function, and 4. the final motor outcome. RESULTS: In all 13 cases studied, the spinal defect was either at thoracic (n = 8) or at lumbal (n = 5) level. All fetuses displayed active leg movements corresponding to the functioning of low lumbal myelum segments (L4-5 in two cases or L5-S1 in 11 cases), despite vertebral defects at high localisation. These leg movements were of normal quality (normal in appearance) and endogenously generated, since no external stimulus was exerted to elicit them. This implies that in fetuses with spina bifida aperta active leg movements can be generated at spinal segments which are located at (n = 1), or under (n = 12) the meningo-myelelocele. Postnatally, for a short period of time (mostly during the first few hours), leg movements related to myelum function at (n = 1) or lower than (n = 7) the spinal defect were detected. However, only in two infants these early leg movements were of normal quality and corresponded with the final motor outcome. In contrast to these early neonatal leg movements, early sensory function was strongly related to the spinal defect (r = 0.76; P = 0.005) and to the final motor outcome (sensory function predicted outcome in all infants of whom follow-up was performed). CONCLUSION: These data on fetuses/infants with spina bifida aperta strongly indicate that a discrepancy exists between the occurrence of prenatal leg movements and the spinal localisation of the meningo-myelocele on the one hand, and between the occurrence of pre- and postnatal leg movements on the other hand (quantity and quality).

The benefits of team treatment and control of adult patients with spinal dysraphism.

We investigated the outcome of newly referred patients to our spina bifida team in the period 1989-1994. 12 of 42 patients had spina bifida occulta, 8 had a meningocele and 22 a myelomeningocele. More than half of the patients underwent an operation which was beneficial to them. 13 operations for a tethered cord syndrome were performed with good results. In 15 patients referral delay caused unnecessary and mostly irreversible harm. Life-long regular control by members of a spina bifida team is, therefore, highly recommended.

[Future prospects for children with spina bifida aperta]. / Toekomstperspectieven voor kinderen met spina bifida aperta.

OBJECTIVE: To determine the prospects for independent functioning in society of children born with meningomyelocele who are receiving maximal treatment. DESIGN: Retrospective descriptive. SETTING: University Hospital Groningen, the Netherlands. METHODS: Data were collected in 1994 regarding personal care, mobility, education, living conditions and employment of 163 patients alive and born in 1966-1990. They were divided into three groups according to their age, corresponding to the primary school period (n = 47), secondary school period (n = 37) and subsequent education or employment period (n = 79). All data were related to the level of the neurological lesion. RESULTS: A higher level of the neurological deficit corresponded with a lower probability of functioning independently in society. This was mainly caused by the concomitant mental handicap that occurs frequently in children with a high neurological deficit. Nine out of 46 adult patients with a deficit higher than LIII were living independently. Eleven of these 46 patients were (or had been) capable of attending regular education, and 7 of these 11 patients had a regular job. CONCLUSION: The prospects of children born with a meningomyelocele of reaching independence are relatively poor, depending on the level of neurological deficit.

[Epidemiology of prenatal diagnosis and selective pregnancy termination because of fetal neural tube defects in The Netherlands in comparison to other European countries]. / Epidemiologie van prenatale diagnostiek en selective zwangerschapsafbreking vanwege foetale neuralebuisdefecten in Nederland in vergelijking met andere Europese landen.

OBJECTIVE: To describe the epidemiological impact of prenatal diagnosis and selective abortion on the frequency of neural tube defects (NTD) in the period 1980-1992 in the Northern Netherlands in comparison with data from other European regions. DESIGN: Descriptive. SETTING: 17 'European registration of congenital anomalies' (EUROCAT) registrations, localized in 10 European countries. METHOD: Data were collected actively and retrospectively from multiple sources fed by voluntary registration of congenital anomalies in live births, stillbirths and pregnancies terminated because of congenital anomalies. RESULTS: In Europe the total birth prevalence of NTD in the period 1980-1992 ranged from 5.3 per 10,000 in Switzerland to 29.0 per 10,000 in Glasgow, a difference of a factor 5.5. In live births the difference was ninefold: ranging from 2.0 per 10,000 in Paris to 18.8 per 10,000 in Dublin. The Netherlands had a conspicuously high prevalence among live births, higher than in other regions in continental Europe. For spina bifida the live birth prevalence both in other continental regions and in Glasgow was also lower than in the Netherlands. In Glasgow serum alpha-foetoprotein screening apparently led to frequent early prenatal diagnosis of NTD and to frequent termination of pregnancy. In Paris the use of ultrasound screening appears to lead to frequent later prenatal diagnosis, as well as frequent termination of pregnancy. CONCLUSION: In the Netherlands the impact of prenatal diagnosis and selective abortion is limited, so that primary prevention (periconceptional use of folic acid) is more important than in some other European countries.

Catecholamine metabolism during additional administration of DL-threo-3,4-dihydroxyphenylserine to patients with Parkinson's disease.

DL-threo-3,4-dihydroxyphenylserine (DL-threo-DOPS) was administered during 10 days to 4 patients with longstanding Parkinson's disease in addition to their treatment with L-3,4-dihydroxyphenyl-L-alanine (L-DOPA)-carbidopa (Sinemet). All patients tended to improve in their symptoms freezing, all day life activity and mood. There were no improvements in rigidity, tremor, and akinesia (in general). During the DL-threo-DOPS-treatment cerebrospinal fluid (CSF), serum and urine concentrations of catecholamines were measured. The results show that DL-threo-DOPS is transported to the brain and CSF in a way comparable with L-DOPA. However, no measurable increase of 3-methoxy-4-hydroxyphenylethyleneglycol (MOPEG) in CSF could be demonstrated. This suggests that the synthesis of noradrenaline from DL-threo-DOPS in the brain is doubtful. In addition measurements in urine reveals that at the dose used Sinemet prevents peripheral decarboxylation of DL-threo-DOPS into noradrenaline. Other possible metabolic pathways of DL-threo-DOPS are discussed.

Neonatal loss of motor function in human spina bifida aperta.

OBJECTIVE: In neonates with spina bifida aperta (SBA), leg movements innervated by spinal segments located caudal to the meningomyelocele are transiently present. This study in neonates with SBA aimed to determine whether the presence of leg movements indicates functional integrity of neuronal innervation and whether these leg movements disappear as a result of dysfunction of upper motor neurons (axons originating cranial to the meningomyelocele) and/or of lower motor neurons (located caudal to the meningomyelocele). METHODS: Leg movements were investigated in neonates with SBA at postnatal day 1 (n = 18) and day 7 (n = 10). Upper and lower motor neuron dysfunction was assessed by neurologic examination (n = 18; disinhibition or inhibition of reflexes, respectively) and by electromyography (n = 12; absence or presence of denervation potentials, respectively). RESULTS: Movements, related to spinal segments caudal to the meningomyelocele, were present in all neonates at postnatal day 1. At day 1, leg movements were associated with signs of both upper (10 of 18) and lower (17 of 18) motor neuron dysfunction caudal to the meningomyelocele. In 7 of 10 neonates restudied after the first postnatal week, leg movements had disappeared. The absence of leg movements coincided with loss of relevant reflexes, which had been present at day 1, indicating progression of lower motor neuron dysfunction. CONCLUSIONS: We conclude that the presence of neonatal leg movements does not indicate integrity of functional lower motor neuron innervation by spinal segments caudal to the meningomyelocele. Present observations could explain why fetal surgery at the level of the meningomyelocele does not prevent loss of leg movements.