Clinical evaluation and surveillance imaging in children with spina bifida aperta and shunt-treated hydrocephalus.

OBJECT: Most children with spina bifida aperta have implanted CSF shunts. However, the efficacy of adding surveillance imaging to clinical evaluation during routine follow-up as a means to minimize the hazard of shunt failure has not been thoroughly studied. METHODS: A total of 396 clinic visits were made by patients with spina bifida aperta and shunt-treated hydrocephalus in a spina bifida specialty clinic during the calendar years 2008 and 2009 (initial clinic visit). All visits were preceded by a 6-month period during which no shunt evaluation of any kind was performed and were followed by a subsequent visit in the same clinic. At the initial clinic visit, 230 patients were evaluated by a neurosurgeon (clinical evaluation group), and 166 patients underwent previously scheduled surveillance CT scans in addition to clinical evaluation (surveillance imaging group). Subsequent unexpected events, defined as emergency department (ED) visits and caregiver-requested clinic visits, were reviewed. The time to an unexpected event and the likelihood of event occurrence in each of the 2 groups were compared using Cox proportional hazards survival analysis. The outcome and complications of shunt surgeries were also reviewed. RESULTS: The clinical characteristics of the 2 groups were similar. In the clinical evaluation group, 2 patients underwent shunt revision based on clinical findings in the initial visit. In the subsequent follow-up period, there were 27 visits to the ED and 25 requested clinic visits that resulted in 12 shunt revisions. In the surveillance imaging group, 11 patients underwent shunt revision based on clinical and imaging findings in the initial visit. In the subsequent follow-up period, there were 15 visits to the ED and 9 requested clinic visits that resulted in 8 shunt revisions. Patients who underwent surveillance imaging on the day of initial clinic visit were less likely to have an unexpected event in the subsequent follow-up period (relative risk 0.579, p = 0.026). The likelihood of needing shunt revision and the morbidity of shunt malfunction was not significantly different between the 2 groups. CONCLUSIONS: Surveillance imaging in children with spina bifida aperta and shunted hydrocephalus decreases the likelihood of ED visits and caregiver-requested clinic visits in the follow-up period, but based on this study, its effect on mortality and morbidity related to shunt malfunction was less clear.

Fetal endoscopic myelomeningocele closure preserves segmental neurological function.

AIM: Our aim was to compare the effect of prenatal endoscopic with postnatal myelomeningocele closure (fetally operated spina bifida aperta [fSBA]) versus neonatally operated spina bifida aperta [nSBA]) on segmental neurological leg condition. METHOD: Between 2003 and 2009, the fetal surgical team (Department of Obstetrics, University of Bonn, Germany) performed 19 fetal endoscopic procedures. Three procedures resulted in fetal death, three procedures were interrupted by iatrogenic hemorrhages and 13 procedures were successful. We matched each successfully treated fSBA infant with another nSBA infant of the same age and level of lesion, resulting in 13 matched pairs (mean age 14 mo; SD 16 mo; f/m=1.6; female-16, male-10). Matched fSBA and nSBA pairs were compared in terms of segmental neurological function and leg muscle ultrasound density (MUD). We also determined intraindividual difference in MUD (dMUD) between myotomes caudal and cranial to the myelomeningocele (reflecting neuromuscular damage by the myelomeningocele) and compared dMUD between fSBA and nSBA infants. Finally, we correlated dMUD with segmental neurological function. RESULTS: We found that, on average, the fSBA group were born at a lower gestational age than the nSBA group (median 32 wks [range 25-34 wks] vs 39 wks [34-41 wks]; p=0.001) and experienced more complications (chorioamnionitis, premature rupture of the amniotic membranes, oligohydramnios, and infant respiratory distress syndrome necessitating intermittent positive-pressure ventilation). Neurological function was better preserved after fSBA than after nSBA (median motor and sensory gain of two segments; better preserved knee-jerk [p=0.006] and anal [p=0.032] reflexes). The dMUD was smaller in fSBA than in nSBA infants (mean difference 24, 95% confidence interval [CI] 15-33; p<0.05), which was associated with better preserved segmental muscle function. INTERPRETATION: Fetal endoscopic surgery is associated with spinal segmental neuroprotection, but it results in more complications. Before considering clinical implementation of fetal endoscopic myelomeningocele closure as standard care, the frequency of complications should be appropriately reduced and results assessed in larger groups over a longer period of time.

Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain.

We describe a case series of six fetuses with open spina bifida (OSB) from four different prenatal units, where the anomaly was detected at the routine 11-13-week ultrasound examination. Crown-rump length ranged from 49 to 78 mm. All cases were first suspected during nuchal translucency thickness measurement in the mid-sagittal plane of the face. OSB was lumbosacral in five fetuses and cervical in one. The intracranial translucency (IT) was obliterated in two cases, but some fluid was found in the other four cases. However, in all cases the typical landmarks of a normal posterior brain and normal IT were absent. In all six cases the ratio of brainstem diameter to brainstem-occipital bone distance was increased (≥ 1). This detection of an abnormal posterior brain led to a targeted examination and detection of the spinal lesion during the same examination in five cases, whereas in one suspicious case the patient was recalled at 17 weeks, when the abnormality was detected. Two fetuses had both multiple anomalies and trisomy 18. These prospective cases demonstrate the feasibility of using the standard mid-sagittal plane commonly used for NT measurement to assess the IT and the posterior brain and to determine the presence of OSB during NT screening.

Expectation of life and unexpected death in open spina bifida: a 40-year complete, non-selective, longitudinal cohort study.

AIM: The aim of our study was to investigate survival and causes of death in a complete cohort of open spina bifida at the mean age of 40 years. METHOD: We conducted a community-based, prospective study of 117 consecutive infants (50 males, 67 females) with open spina bifida whose backs were closed non-selectively within 48 hours of birth between 1963 and 1971 at Addenbrooke's Hospital, Cambridge, UK. Of those who survived to age 1 year, 89% (82 out of 92) had a cerebrospinal fluid shunt. In 2007, all survivors were surveyed by postal questionnaire backed up by telephone interview. Details of deaths were obtained from the Office for National Statistics, medical records, and autopsy reports, and Kaplan-Meier survival curves were constructed. RESULTS: One in three of the cohort (40/117) died before the age of 5 years. A further 26% (31/117) died during the next 35 years, over 10 times the national average. Half the deaths (16/31) after the age of 5 were sudden and unexpected. All occurred in the community and were followed by a coroner's autopsy. The most frequent causes of these unexpected deaths were epilepsy, pulmonary embolus, acute hydrocephalus, and acute renal sepsis. The prognosis for survival was strikingly poor in those with the most extensive neurological deficit. Only 17% (7/42) of those born with a high sensory level (above T11) survived to the mean age of 40 years, compared with 61% (23/38) of those with a low sensory level (below L3; p=0.001). INTERPRETATION: Doctors and care planners need to be aware that, contrary to previous suggestions, there is continuing high mortality throughout adult life in individuals with open spina bifida, and many deaths are unexpected.

Perineal sensation: an important predictor of long-term outcome in open spina bifida.

OBJECTIVES: To see if perineal sensation in infants with open spina bifida is associated with a better long-term outcome, particularly in terms of survival, renal-related deaths and incontinence. METHODS: We conducted a prospective cohort study on a complete cohort of 117 consecutive patients with open spina bifida, whose backs were closed non-selectively at birth between 1963 and 1971. A meticulous neurological examination in infancy showed that 33 (28%) of them had perineal sensation, defined as intact sensation to pinprick in at least one dermatome on one side in the saddle area (S2-4). Data recorded within 48 h of birth and during six reviews between 1972 and 2002 were used. Details of deaths were obtained from medical records and from the Office of National Statistics. RESULTS: By December 2005, 57% (67/117) of the cohort had died. There were 50 survivors with a mean age 38 years (range 35-41). More of those with perineal sensation survived than those without (23/33 v 27/84, p<0.001). This difference was mainly caused by 19 renal deaths in those lacking perineal sensation. Crucially there were no renal-related deaths in those with perineal sensation (0/33 v 19/84, p = 0.003). Among the survivors, those with perineal sensation were more likely than the remainder to be continent of urine and faeces (10/23 v 1/27, p<0.001 and 18/23 v 9/27, p = 0.002 respectively). They were also more likely to be able to walk at least 50 m (11/23 v 5/27, p = 0.027) and never to have had pressure sores (15/23 v 9/27, p = 0.025). CONCLUSIONS: A simple assessment of perineal sensation in infancy predicts long-term outcome in terms of survival, renal prognosis and incontinence in open spina bifida.

[Children with meningomyelocele become adults!]. / Barn med ryggmärgsbråck blir vuxna!

The survival for children with spina bifida has dramatically increased during the last 30 years. In Sweden today 40-50 adolescents with spina bifida are reaching adulthood each year the next 10 years. Children with spina bifida are from birth to adulthood followed by a multidisciplinary medical and paramedical team within the habilitation organisation. However, from the age of 18 this responsibility is discontinued, often with less readiness in adult medicine to meet the spina bifida adolescents and their special needs. Facing adolescence and adulthood both children and parents need a careful preparation from several points of view for the transition. It is also most important to prepare the adult medical disciplines about the special needs of this group. This process has to start early to reach successful management, including improvement in self-care.

Long-term outcome in open spina bifida.

BACKGROUND: Doctors need reliable data on outcome in order to help parents faced with difficult decisions about termination of an affected pregnancy or treatment after birth. AIM: To determine survival, health and lifestyle at the mean age of 30 years in a complete cohort of adults born with open spina bifida. DESIGN OF STUDY: Prospective cohort study. PARTICIPANTS: Well-documented cohort of 117 consecutive cases of open spina bifida whose backs were closed non-selectively at birth between 1963 and 1971. METHOD: Survivors (age range = 26 to 33 years) were surveyed by postal questionnaire and telephone interview. The main outcome measures were the health, independence and lifestyle of the survivors in terms of living in the community, driving a car and working in open employment. RESULTS: Ascertainment was 100%. Sixty (51%) had died, mainly the most disabled. Of the 57 survivors, 84% had a cerebrospinal fluid (CSF) shunt, 70% had an IQ of 80 or more, 37% lived independently in the community, 39% drove a car, 30% could walk more than 50 metres and 26% were in open employment. However one-third (19) still needed daily care, three were on respiratory support, two were blind, two had diabetes mellitus, and one was on dialysis. Mortality, disability and achievement reflected the neurological deficit that had been recorded in infancy in terms of sensory level. Attainment and independence were reduced in those who had needed revision of CSF shunt. CONCLUSION: The survivors in this unselected cohort showed a wide range of outcome from apparent normality to very severe disability. This reflected both the extent of their original neurological deficit and events in the history of their CSF shunt.

Open spina bifida: a complete cohort reviewed 25 years after closure.

This study summarises the long-term results of non-selective treatment of open spina bifida. Every member of a consecutive series of 117 cases was ascertained 22 to 28 years after closure of the back. 56 of the cohort had died. The condition of the 61 survivors ranged from normal to severe disability. Only 33 of the survivors were capable of living independently, 11 required supervision and some help, and 17 needed daily care which was generally provided by the parents. The two main determinants of disability and dependency were the extent of the neurological deficit and IQ. Improvements in the management of patients with open spina bifida have greatly reduced mortality, but they are less likely to influence long-term disability since that is dependent on the severity of the neurological deficit.

Long-term outcome in surgically treated spina bifida cystica.

This report describes the long-term operative outcome of 72 patients with spina bifida cystica. The period of follow-up was between 4 and 20 years. In our series, 17 patients died, with the mortality rate increasing as the lesions were more rostral. All cases involving only a meningocele are living without handicap. The cases of spina bifida cystica with hydrocephalus had higher morbidity and mortality when compared to those without hydrocephalus. We conclude that the rostro-caudal location, the content of the sac, and whether there is associated hydrocephalus are important factors influencing the long-term prognosis of spina bifida cystica.