Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.

Acquired demyelinating syndromes (ADS) can be a first presentation of multiple sclerosis (MS) in children. The incidence of these disorders in Europe is currently unknown. Children (<18 years old) living in the Netherlands who presented with ADS were included from January 1, 2007 to December 31, 2010 by the Dutch pediatric MS study group and the Dutch surveillance of rare pediatric disorders. Demographic and clinical data were collected. Eighty-six patients were identified over 4 years, resulting in an incidence of 0.66/1,00,000 per year. Most patients presented with polyfocal ADS without encephalopathy (30%), followed by polyfocal ADS with encephalopathy (24%), optic neuritis (ON, 22%), monofocal ADS (16%), transverse myelitis (3%), and neuromyelitis optica (3%). Patients with polyfocal ADS with encephalopathy were younger (median 3.9 years) than patients with ON (median 14.6 years, p < 0.001) or monofocal ADS (median 16.0 years, p < 0.001). Patients with polyfocal ADS without encephalopathy (median 9.2 years) were also younger than monofocal ADS patients (median 16.0 years, p < 0.001). There was a slight female preponderance in all groups except the ON group, and a relatively large number of ADS patients (29%) reported a non-European ancestry. Familial autoimmune diseases were reported in 23%, more often in patients with relapsing disease than monophasic disease (46 vs. 15%, p = 0.002) and occurring most often in the maternal family (84%, p < 0.001). During the study period, 23% of patients were subsequently diagnosed with MS. The annual incidence of ADS in the Netherlands is 0.66/1,00,000 children/year. A polyfocal disease onset of ADS was most common.

The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin.

INTRODUCTION: Neuroimaging of the brain in the diagnostic work-up of patients with neurodevelopmental disorders is a matter of continuing debate. Recommendations range from performing brain imaging in all patients with neurodevelopmental disorders to performing an MRI only in those with indication on clinical examinations. Important indications for neuroimaging are head size abnormalities and focal neurological findings. METHODS: Patients with neurodevelopmental disorders of unknown origin (n = 410), referred to a specialized tertiary diagnostic center for neurodevelopmental disorders were included in a retrospective analysis. A 1-day work-up, including an MRI of the brain was performed. Studied were the: (i) yield of MRI scans of the brain and (ii) associations of specific clinical symptoms/signs with abnormal and diagnostic MRI scans. RESULTS: (i) In 30.7% of the 410 patients with neurodevelopmental disorders (n = 126), abnormal MRI scans were observed, leading to an etiological diagnosis in 5.4% of the patients (n = 22). (ii) Pyramidal disorders (P = 0.001), epilepsy (P = 0.04) and an abnormal head circumference (P = 0.02) were associated with an abnormal MRI scan. The presence of one of the following neurological symptoms/signs: movement disorders, pyramidal disorders, epilepsy, or an abnormal head circumference was associated with a diagnostic MRI scan (P < 0.001) (diagnostic MRI % in neurological versus no neurological symptoms/signs, 13.0% versus 1.9%). CONCLUSION: Neuroimaging of the brain in a tertiary care center for patients with neurodevelopmental disorders of unknown origin is useful, especially in case of neurological symptoms/signs.

Role of prenatal ultrasound in predicting survival and mental and motor functioning in children with spina bifida.

OBJECTIVE: To determine which prenatal ultrasound findings can predict survival and mental and motor functioning in children with spina bifida. METHODS: Prenatal ultrasound examinations of all liveborn children who were prenatally diagnosed with spina bifida between 1997 and 2002 at the University Medical Centre, Utrecht (n = 41) were retrospectively reviewed for lesion level, head circumference, ventriculomegaly, scoliosis and talipes. These measures were correlated with postnatal anatomical (as assessed by magnetic resonance imaging (MRI)) and functional lesion levels, survival and motor and mental outcome at 5 years of age. The capacity of prenatal ultrasonography to determine lesion level was also assessed in all fetuses diagnosed with spina bifida from 2006-2007 (n = 18). RESULTS: Nineteen infants died before the age of 5 years. Multivariate regression analysis showed that higher lesion level and head circumference > or = the 90th percentile on prenatal ultrasound examination were independent predictors of demise (P < 0.05 and P = 0.01, respectively). None of the ultrasound features was a predictor of motor or mental functioning. Ultrasound predicted anatomical lesion level within one level of the postnatal findings in 50% of the first cohort and 89% of the second cohort (P < 0.01). The level of the anatomical lesion as assessed by postnatal MRI differed from the functional lesion by as many as six vertebral levels. CONCLUSIONS: Lesion level and head circumference on prenatal ultrasound are predictive of survival in children with spina bifida. No predictors were found for mental or motor function at the age of 5 years.

Restrictions in social participation of young adults with spina bifida.

PURPOSE: To determine participation restrictions of young adults with spina bifida (SB) in relation to health condition and activity limitations. METHOD: A total of 179 persons aged 16-25 years and born with SB participated in a cross-sectional study. The main outcome on four domains of participation (independent living, employment, education and partner relationships) was assessed using a structured questionnaire. RESULTS: At the mean age of 21 years only 16% were living independently, more than one-third of the participants went to special secondary education, 53% of those who finished education did not have a regular job and 71% did not have a partner. Health condition variables (type of SB, hydrocephalus and level of lesion) and to a lesser extent activity limitations (wheelchair dependence and incontinence) were significant determinants for having participation restrictions. Perceived hindrances in participation included long-distance transportation (19-36%), accessibility (10-42%), physical impairments (22-40%), emotional barriers (20-32%) and financial limits (3-17%). More severe SB, defined as hydrocephalus, high level of lesion and wheelchair dependence, was related with more experienced hindrances due to long-distance transportation accessibility of buildings. CONCLUSIONS: Many young adults with spina bifida experience participation restrictions. Severity of SB was negatively related to participation. Social integration should be a major focus in the professional guidance of youngsters with physical disabilities.

Prognostic factors after a first attack of inflammatory CNS demyelination in children.

OBJECTIVE: To identify clinical, radiologic, or CSF factors that predict conversion to multiple sclerosis (MS) after a first attack of inflammatory demyelination in children. METHODS: In this nationwide retrospective multicenter study in the Netherlands, 117 children below age 16 were included. Fifty-four children presented with a monofocal clinically isolated syndrome (CIS) and 63 children with a polyfocal CIS (PCIS). RESULTS: A second MS-defining attack occurred in 43% of the CIS cases, compared to 21% of the patients with PCIS onset (p < 0.006). Basal ganglia and thalamic lesions and lesions larger than 2 cm on MRI (considered typical of ADEM) were observed during PCIS, irrespective of the presence of encephalopathy. No significant difference in developing MS was found in children with PCIS with or without encephalopathy. Elevated IgG index and presence of oligoclonal CSF bands were more often observed in children who developed MS. Both Barkhof and KIDMUS MRI criteria shared a high specificity and had a high positive predictive value for conversion to MS. In children under the age of 10, the Barkhof criteria had a higher sensitivity than the KIDMUS criteria, but still lower than in older children. CONCLUSIONS: Barkhof and KIDMUS MRI criteria share a high specificity and positive prognostic value for conversion to multiple sclerosis (MS). Sensitivity of these criteria is poor, especially in children below 10 years of age. Basal ganglia lesions can occur in patients who later develop MS. A substantial number of patients presenting with polyfocal onset and no encephalopathy remained monophasic.

Life satisfaction of young adults with spina bifida.

This study concerns life satisfaction and its determinants in Dutch young adults with spina bifida (SB). Data on life satisfaction (Life Satisfaction Questionnaire [LiSat-9]) were related to hydrocephalus, lesion level, disabilities, and demographic variables. In total, 179 young adults with SB participated (41% male, age range 16-25y; 79% SB aperta, 67% hydrocephalus [HC], 39% wheelchair-dependent). Most were satisfied with their life as a whole (24% dissatisfied). No difference was found from a population reference group (28% dissatisfied). Highest proportions of dissatisfaction were found for financial situation (44%), partnership relations (49%), and sex life (55%). Least dissatisfaction was found for contact with friends (17%) and families (15%). Young adults with SB and HC were more satisfied with their financial situation and family life but were less satisfied with self-care ability and partnership relations than those without HC and the reference group. However, except for self-care ability, relationships between life satisfaction and having SB were weak. In conclusion, self-care ability and partnership relations were rated least favourable and may need more attention from care providers. Overall, SB does not seem to be an important determinant of life satisfaction.

Perceived health in young adults with spina bifida.

The aims of this study were to compare the perceived health of young adults with spina bifida with a population without disability, and to determine the effect of the disease characteristics and resulting impairments on perceived health. This cross-sectional study is part of the Adolescents with Spina Bifida in the Netherlands study. Data were collected by physical examination and a questionnaire. In total, 179 patients (age range 16-25y) participated in the study and perceived health data were completed for 164 participants (92 females, 72 males; mean age 20y 7mo [SD 2y 9mo]). Twenty-six participants had spina bifida occulta and 138 had spina bifida aperta, of whom 115 also had hydrocephalus. Perceived health was measured with the Medical Outcome Study 36-item Short-form Health Survey (SF-36), a generic health status measure. SF-36 scores of young adults with spina bifida were below those of an age-matched population group for six of the eight domains. This difference was largest for the physical functioning domain. Although these differences were statistically significant they were small. Findings for the emotional health domains (vitality, mental health, role problems due to emotional problems) did not differ at all from the population group.

Determinants of functional independence and quality of life in children with spina bifida.

OBJECTIVE: To investigate determinants of functional independence and study which functional abilities were determinants for 'health-related quality of life' in children with myelomeningocele. DESIGN: Cross-sectional study by means of clinical assessment, 'disability' measurement and questionnaires. Uni- and multivariate logistic regression models were used to investigate factors that were determinants for these outcomes. Results were expressed as odds ratios (OR) and 95% confidence intervals (95% CI). SETTING: Outpatient spina bifida clinic at a university hospital. SUBJECTS: One hundred and twenty-two children with myelomeningocele. Mean age 7.9; range 1-18 years. MAIN MEASURES: Functional independence as measured by the Pediatric Evaluation of Disability Inventory (PEDI), and quality of life as measured by the Spina Bifida Health Related Quality of Life Questionnaire. RESULTS: Lesion level below L3 (OR 0.4, 95% CI 0.1-1.0), mental status of IQ > or =80 (OR 4.2, 95% CI 1.2-14.9), having no contractures in lower extremities (OR 3.4, 95% CI 1.3-8.8), and having normal strength of knee extensor muscles (OR 4.1, 95% CI 1.4-11.5) were most strongly associated with independence in self-care. Mental status (OR 16.1, 95% CI 2.8-93.9), having no contractures in lower extremities (OR 1.5, 95% CI 1.4-5.3), and normal strength in knee extensors (OR 11.0, 95% CI 1.3-97.0) were the most important determinants for independence in mobility. Concerning functional abilities, being independent with regard to mobility was the most important determinant for 'health-related quality of life' (OR 5.3, 95% CI 1.6-17.4). CONCLUSIONS: In children with myelomeningocele, good muscle strength, mental ability and being independent in mobility appeared to be much more important for daily life function and quality of life than other medical indicators of the disorder.

High prevalence of incontinence among young adults with spina bifida: description, prediction and problem perception.

STUDY DESIGN: Cross-sectional study. OBJECTIVES: To study the prevalence of incontinence, problem perception and determinants of urinary and faecal incontinence in young adults with spina bifida. SETTING: Nation-wide study in the Netherlands. PARTICIPANTS: A total of 179 of 350 invited patients participated, including 37 patients with spina bifida occulta and 142 with spina bifida aperta, of whom 119 had hydrocephalus; 41% were male and mean age was 20.4 (range 16-25 years). METHODS: Data were collected from interviews, physical examination, neuropsychological tests and medical records. RESULTS: Urinary and faecal incontinence was common in young adults with spina bifida (60.9 and 34.1%, respectively), regardless of the bladder and bowel management they used. The majority of urinary and faecal incontinent patients perceived this as a problem (69.7 and 77.0%, respectively). Spina bifida aperta, hydrocephalus and a level of lesion of L5 or above were associated with patients suffering from urinary and/or faecal incontinence. Predictors of perceiving urinary incontinence as a problem were, in addition to being incontinent, not having hydrocephalus and having a level of lesion of L5 or above. The only predictor of perceiving faecal incontinence as a problem was the frequency of incontinence. CONCLUSION: A majority of young adults with spina bifida suffer from urinary and faecal incontinence and most of them perceive their incontinence as a problem. Therefore, further efforts are important to improve urinary and faecal continence.

Spinal fusion in children with spina bifida: influence on ambulation level and functional abilities.

The aim of this study was to determine the influence of spinal fusion on ambulation and functional abilities in children with spina bifida for whom early mobilization was stimulated. Ten children (three males and seven females) with myelomeningocele were prospectively followed. Their mean age at operation was 9.3 years (standard deviation (SD): 2.4). Spinal curvature was measured according to Cobb. Pelvic obliquity and trunk decompensation were measured as well. The ambulation level was scored according to Hoffer, and functional abilities, as well as the amount of caregiver assistance, were documented using the Pediatric Evaluation of Disability Inventory. All patients were assessed before surgery and three times after surgery, with a total follow-up duration of 18 months after surgery. After spinal fusion, magnitude of primary curvature decreased significantly (p=0.002). Pelvic obliquity and trunk decompensation did not change. In spite of less immobilization as compared with other reported experiences, ambulation became difficult in three out of four patients who had been able to ambulate prior to surgery. Functional abilities and amount of caregiver assistance concerning self-care (especially regarding dressing upper and lower body, and self-catheterization) and mobility (especially regarding transfers) showed a nonsignificant trend to deterioration within the first 6 months after surgery, but recovered afterwards. From pre-surgery to 18 months after surgery, functional skills on self-care showed borderline improvement (p=0.07), whereas mobility did not (p=0.2). Mean scores on caregiver assistance improved significantly on self-care (p=0.03), and borderline on mobility (p=0.06), meaning that less caregiver assistance was needed compared with pre-surgery. The complication rate was high (80%). In conclusion, within the first 6 months after spinal fusion, more caregiver assistance is needed in self-care and mobility. It takes about 12 months to recover to pre-surgery level, while small improvement is seen afterwards. After spinal fusion, ambulation often becomes difficult, especially in exercise walkers. These findings are important for health-care professionals, in order to inform and prepare the patients and their parents properly for a planned spinal fusion.

Neurological outcome of children who were treated for fetal tachycardia complicated by hydrops.

OBJECTIVE: Fetal tachycardia is a condition associated with congestive heart failure and development of fetal hydrops, which may result in neurological morbidity and mortality. The aim of this study was to investigate the long-term outcome of hydropic fetuses. METHODS: This was a retrospective study on cognitive and neurological functioning of 11 infants, aged 6 months to 12 years, who experienced fetal tachycardia complicated by hydrops. RESULTS: Seven fetuses had supraventricular tachycardia (SVT), three had atrial flutter (AF) and one had ventricular tachycardia (VT). Nine fetuses converted to sinus rhythm within a mean time of 8.2 days of presentation; resolution of hydrops was achieved in six of these patients in a mean time of 8.8 days. Mean gestational age (GA) at birth was 35 + 4 weeks. Neonatal cranial ultrasound was normal in seven infants and all but one of these were normal at follow-up: one infant who initially had no abnormalities developed multiple cerebral lesions as a result of a malignant long QT syndrome (LQTS) and died at the age of 2 years. Three infants had periventricular echogenicity (PVE) on neonatal cranial ultrasound, associated with a pseudocyst in one infant. The remaining infant showed a parenchymal hemorrhage of antenatal onset, seen as a porencephalic cyst at birth. One of these infants was normal at follow-up, one died 2 days after birth and two infants had neurological abnormalities at follow-up, consisting of mild hemiplegia with normal cognitive function in one, and a cognitive developmental delay in the other. CONCLUSIONS: In this study, neurological outcome was good in eight out of 11 infants. Initiation of therapy should not be withheld or delayed on the assumption of poor neurological outcome.

Secondary impairments in young adults with spina bifida.

The aim of this study was to examine the prevalence of secondary impairments in young adults with spina bifida and to relate the prevalence to the type of spina bifida and the level of lesion. This cross-sectional study is part of the ASPINE (Adolescents with Spina Bifida in the Netherlands) study. Data were collected on medical history, hydrocephalus (shunt: yes/no), neurological level of lesion (International Standards for Neurological and Functional Classification of Spinal Cord Injury), visual acuity (Landolt rings), spasticity (Modified Ashworth Scale), contractures (range of motion), scoliosis (deviation from perpendicular), ambulation (Hoffer criteria), pressure sores and blood pressure (physical examination), epilepsy, pain, incontinence and sexuality (questionnaire), and cognitive functioning (Raven Standard Progressive Matrices). In total, 179 patients with spina bifida participated (41% male, age range 16 to 25 years, mean 20 years 9 months, SD 2 years 11 months). These were 37 patients with spina bifida occulta, 119 patients with spina bifida aperta and hydrocephalus (AHC+) and 23 patients with spina bifida aperta without hydrocephalus (AHC-). Of our patient group, 73 had a high-level lesion (L2 and above), 68 a mid-level lesion (L3 to L5), and 38 a low-level lesion (S1 and below). Both subdivisions were strongly related with patients with higher lesions more often having hydrocephalus. Most secondary impairments were found for patients with AHC+, and patients with AHC- were mostly comparable to patients with spina bifida occulta. According to level of lesion, most medical problems were found in the high-level lesion group. However, all subgroups suffered from health problems.

Spina bifida at the sacral level: more than minor gait disturbances.

OBJECTIVE: To investigate functional outcome in two groups of children with sacral level paralysis: myelomeningocele (MMC) versus lipomyelomeningocele (LMMC). Additionally both groups were compared with each other and when possible with reference values. DESIGN: Cross-sectional study by means of (1) clinical assessment, and (2) disability measurement. SETTING: Spina bifida outpatient clinic at a university hospital in the Netherlands. SUBJECTS: Sample of 30 children with MMC and 14 with LMMC. Mean age (SD) 6.0 (4.9) and 8.4 (4.9) years respectively. MAIN MEASURES: Muscle strength, ambulation level, motor performance (Bayley Scales of Infant Development (BSID) and Movement Assessment Battery for Children), and the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The majority of patients in both groups were normal ambulant, 14/21 (67%) in MMC and 9/14 (64%) in LMMC. Ambulation was strongly associated with muscle strength of hip abductors (odds ratio (OR): 13.5, 95% confidence interval (CI) 2.5-73.7), and ankle dorsal-flexor muscles (OR: 110, 95% CI 8.9-135.9). No significant differences were found in lesion and ambulation level. Muscle strength and motor performance were significantly lower in the MMC group than in the LMMC group (p < 0.05). PEDI scores were comparable in both groups. Most problems were noted in mobility skills and caregiver assistance in self-care, especially regarding bladder and bowel management. CONCLUSIONS: Gross motor and functional problems were seen in both groups. The MMC group showed more muscle weakness and motor problems. However, in both groups caregiver assistance was needed for a prolonged period, especially regarding bladder and bowel management. These findings need special attention, particularly in children who attend regular schools.

Educational career and predictors of type of education in young adults with spina bifida.

Children with spina bifida (SB) often require special education. To date, little information is available about the educational career of these children. This study focuses on educational career and predictors of attending special education of young adults with SB, using a cross-sectional study including 178 young Dutch adults with SB aged from 16-25. The main outcome was attending regular versus special education. For searching predictive power we selected age, gender, type of SB, level of lesion, hydrocephalus (HC), number of surgical interventions, ambulation, continence and cognitive functioning. Chi-square tests and binary logistic regression were used in the data analysis. Participants with HC attended special primary education more often (59%) than participants without HC (17%). For those participants with HC, the necessity of special primary education was associated with below average intelligence (75% versus 35%), wheelchair dependence (82% versus 39%) and surgical interventions (74% versus 44%). Only half of the participants with HC followed regular secondary education, whereas for participants with SB without HC, the outcome in secondary education was similar to that of the general population (92%). Intelligence was the main predictor of attending special secondary education (odds 5.1:1), but HC (odds 4.3:1) and wheelchair dependence (odds 2.6:1) were also a significant. Other variables were not significant predictors of special secondary education.

Cognitive status of young adults with spina bifida.

The cognitive status of 168 Dutch young adults (103 females, 65 males; mean age 20 years 9 months, age range 16 to 25 years) with spina bifida (SB) was examined. The main purpose was to establish the effect of the type of SB (occulta or aperta) and the effect of hydrocephalus (HC) within the group with SB aperta (AHC+). Results indicated, on average, a lower cognitive status of persons with AHC+ (n=111) than of persons with SB occulta (n=37) and of persons with SB aperta without HC (AHC-; n=20). Almost half the young adults with AHC+ had cognitive impairments of some sort. These included more domain specific impairments (70%) as well as a more general cognitive deficit (30%). Cognitive status of persons with SB occulta and of those with AHC- was similar to that in the healthy population. The presence of associated pathology, rather than SB per se, has a negative effect on cognitive status.

Long-term outcome of neurosurgical untethering on neurosegmental motor and ambulation levels.

The aim of this study was to determine the long-term outcome of neurosurgical untethering on neurosegmental motor level and ambulation level in children with tethered spinal cord syndrome. Forty-four children were operated on (17 males, 27 females; mean age at operation 6 years 2 months, SD 5 years). Sixteen patients had myelomeningocele, nine had lipomyelomeningocele, and 19 had other types of spinal dysraphism. Motor level and ambulation level were assessed pre- and three times postsurgery (mean duration of follow-up 7 years 1 month, SD 1 year 8 months). Deterioration of motor level was seen in five of 44 patients, 36 of 44 remained stable, while improvement was seen in three of 44 patients. Deterioration of ambulation level was seen in five of 44 patients, and remained stable in 26 of 44. Thirteen of 44 children were too young to ambulate at time of operation (< 2 years 6 months). Late deterioration of motor or ambulation level was only seen in (lipo) myelomeningocele patients. Deterioration of ambulatory status was strongly associated with obesity and retethering. Revision of the initial tethered cord release was performed in nine of 44 patients, mainly in those with lipomyelomeningocele.

Osteogenesis imperfecta in childhood: MR imaging of basilar impression.

OBJECTIVE: To determine on radiographs the presence of Basilar Impression (BI) in children with Osteogenesis Imperfecta (OI). To confirm this sign and altered geometrical relationships of the craniocervical junction in course of time with magnetic resonance imaging (MRI). METHODS AND PATIENTS: In a cohort study of 130 patients with OI (OI type I: 85; OI type III: 21; OI type IV: 24) lateral radiographs of the skull and cervical spine were made in a standardised way. MRI scans were performed when BI was suspected based upon protrusion of the odontoid above Chamberlain's line. Intracranial abnormalities as well as the basal angle were described. Neurological examination was performed in patients with conclusive BI at MRI-scan. RESULTS AND DISCUSSION: In eight patients BI could be confirmed by MRI-scan. None of the children had or developed in time neurological symptoms or signs. Follow up of BI by MRI scans was done in seven patients (mean: 5 years; range: 2-6 years). No alteration of intracranial findings were seen at subsequent investigation, although in one child Chamberlain's line increased from 8 (first MRI) to 15 mm (last MRI). BI can be diagnosed by radiographs but in the extreme osteoporotic bone and altered anatomy of the craniocervical junction of children with OI MRI is preferable. As intracranial pathology can be demonstrated by MRI, also a relation can be laid to possible neurological symptoms and signs at clinical examination. CONCLUSION: In our cohort study no alteration of the intracranial contents was seen at subsequent MRI scans. Although anatomic deformations exist in BI, no neurological symptoms or signs were present in our study and no operative reconstruction had to be performed. Periodical MRI-scan has not been of influence on the clinical decision making process. At the moment we perform a MRI-scan if BI is suspected at lateral skull radiographs. The MRI images serve as reference findings to anticipate on possible future symptoms and signs of neurological deficit.

Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands.

OBJECTIVE: To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. METHODS: A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was carried out in three university hospitals. The data were collected from databases and clinical records of the departments of prenatal diagnosis, obstetrics, neonatology, child neurology and neurosurgery of the three centers. RESULTS: Between January 1996 and December 1999, 88 cases of isolated open spina bifida were diagnosed prenatally by ultrasound investigation. Thirty-eight cases (43%) were diagnosed before the 24th week of gestation. Of these, 35 (92%) ended in termination of the pregnancy at the parents' request. Of the remaining 50 cases (57%) diagnosed after the 24th week of gestation, eight (16%) pregnancies were terminated beyond the legal limit for termination due to the severity of the condition. Of the 88 cases of isolated spina bifida, 25 infants (28%) were still alive at the age of 4 years. In the same audit period 112 newborn infants with isolated open spina bifida were admitted to the neonatology, child neurology, or neurosurgery ward of the three centers. Of these cases, 47 (42%) had been diagnosed prenatally and 65 (58%) were an unexpected finding at birth. In 24 infants (21%) surgical treatment was withheld because of the severity of the condition and predicted poor outcome, whereas the remaining 88 infants (79%) underwent surgical repair. CONCLUSION: The current practice in The Netherlands of offering ultrasound screening to high-risk patients only leads to the early detection of a minority of cases of spina bifida. Most cases are diagnosed either after the 24th week of gestation or they remain undiagnosed until after birth. When spina bifida is diagnosed before the 24th week of gestation the vast majority of parents opt for termination. In order to reduce the birth prevalence of spina bifida in The Netherlands the introduction of a policy of routine ultrasound screening should be considered.

[Aneurysm of the V. magna cerebri (vein of Galen), a cause of congestive heart failure in five neonates]. / Aneurysma van de V. magna cerebri (Galeni); oorzaak van decompensatio cordis bij 5 pasgeborenen.

In five neonates (4 girls and 1 boy) with aneurysm of the V. magna cerebri, clinical signs of congestive heart failure were encountered. In three of the neonates the symptoms were detected postnatally and in two prenatally. In one of the prenatally detected cases the aneurysm was treated by embolisation during the first week of life. Upon follow-up at six years of age, this patient's situation was stable but hydrocephalus had led to poor visuomotor development, mild motor retardation and mental retardation. In the other infants, medicinal treatment of the congestive heart failure was discontinued in view of ischaemic brain damage, and these patients subsequently died. Congestive heart failure often develops in neonates with an aneurysm of the V. magna cerebri due to low cerebrovascular resistance. A continuous murmur over the skull is pathognomonic for this condition.