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Objective To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands. Methods This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003 and 2011. Results With implementation of the mid-trimester scan the percentage of cases of open spina bifida detected before the 24th week of pregnancy increased from 43% to 88%. The rise in prenatal detection rate was associated with a significant increase in the number of terminated pregnancies and a decrease in the rate of perinatal loss; the percentage of children born alive did not change significantly. In the subgroup that underwent a scan between 18 and 24 weeks of pregnancy, cranial signs were present in 94.4% of cases. Conclusion Introduction of the mid-trimester scan has led to an increase in early identification of pregnancies complicated by open spina bifida. Pregnancies previously destined to end in perinatal loss are now terminated whilst pregnancies with a relatively good prognosis are frequently continued; the number of children with open spina bifida who are born alive has not changed significantly. Our study confirms that prenatal diagnosis is usually triggered by visualization of a lemon-shaped skull or a banana-shaped cerebellum. Copyright (C) 2013 ISUOG. Published by John Wiley & Sons Ltd.

Contains fulltext : 21863___.PDF (Publisher’s version ) (Open Access)

A 9-year-old boy who since 3 years had been treated with a brace for presumed idiopathic thoracic scoliosis was referred because of severe syringomyelia on MRI of the spinal cord. Neuroimaging of the spinal cord had been performed because of back pain, although the patient had no neurological signs or symptoms. Besides extensive syringomyelia, the MRI revealed a type I Chiari's malformation which we assumed to be the primary cause of the syringomyelia and the subsequent scoliosis. Surgical decompression of the Chiari's malformation led to a remarkable reduction of the syringomyelia and to stabilisation of the scoliosis. In children with structural scoliosis, ancillary investigation in the way of neuroimaging of the spinal cord should be considered to exclude underlying spinal cord pathology, even in the absence of neurological abnormalities.

OBJECTIVE: To gain insight into the reporting and assessment of active termination of life in newborns in The Netherlands. DESIGN; Retrospective. METHOD: Data on all cases of deliberate termination of life in newborns up to the age of 6 months, reported to the public prosecutor as from 1997 onward, were collected and compared. RESULTS: In January 1997-June 2004, 22 cases of deliberate termination of life in newborns were reported. All cases concerned newborns with spina bifida and hydrocephalus. Deliberate termination of life was acceptable to the physicians because of the presence of hopeless suffering, with no means of alleviating the suffering. In all cases, at least 2 doctors were consulted outside the medical team. In 17 of 22 cases, a multidisciplinary spina bifida team was consulted. All parents consented to the termination of life; in 4 cases they explicitly requested it. In 14 cases a combination of analgesics, sedatives and paralyzing drugs were used, in 8 cases only analgesics and sedatives were administered. For the public prosecutor the termination of life was acceptable if 4 requirements were properly fulfilled: the presence of hopeless and unbearable suffering, consent of the parents to termination of life, consultation having taken place and a careful execution ofthe termination. The mean time between reporting of the case and the decision concerning prosecution was 5.3 months. None of the cases led to prosecution. CONCLUSION: Three cases of deliberate termination of life in newborns were reported in The Netherlands annually. The public prosecutor used fixed criteria to assess the case and all cases of active termination of life reported were found to be in accordance with good practice.

Although the child behavior checklist (CBCL) and the teacher's report form (TRF) were not designed for diagnosing psychopathology in children with chronic illnesses, they have become extensively used research tools to assess behavioural problems in paediatric populations, including children with epilepsy. When applied to children with epilepsy, items like "staring blankly" or "twitching" can be rated on the basis of seizure features rather than behaviour and, hence, render behavioural scores ambiguous. The aims were detection, and evaluation of the impact, of CBCL and TRF items eliciting ambiguity when applied to children with "epilepsy only" (idiopathic or cryptogenic epilepsy, attending normal schools). Experts identified items that give rise to interpretational ambiguity of the ratings in epilepsy. By treating ratings on these items as missing values, their effect was evaluated in CBCL and TRF scores of 59 schoolchildren with "epilepsy only" and age and gender matched healthy classmates. Seven items of the CBCL gave rise to ambiguity of which items 5 co-occur on the TRF. Rescoring reduced psychopathology scores in children with "epilepsy only", but not in those of healthy children: the percentage of patients trespassing the clinical cut off score, on at least one of the subscales, reduced from 46 to 23% on the CBCL and from 18 to 15% on the TRF. Parents and teachers run the risk of confusing behaviour and seizure features when filling out the CBCL and TRF. In "epilepsy only", prevalence estimates of psychopathology based on the CBCL and TRF, should be considered with some reserve.

The clinical findings in 12 Angelman syndrome (AS) patients (4 sib pairs and 4 sporadic cases, aged 12-55 years) without a cytogenetic or molecular detectable defect at the AS locus were compared to those of 28 AS patients (aged 11-50 years) with a deletion, in order to determine whether the clinical spectrum differed between the two groups. There were only two minor differences, i.e., mandibular prognathism was always found in the patients with a defect (100% vs. 58%), whereas truncal hypotonia was found less frequently in the group with a detectable genetic defect (54% vs. 91%). All other clinical and physical characteristics were equally represented in the two groups. Epileptic seizures occurred in 93% and 75%, respectively, of patients with and without a detectable chromosome 15 defect. Specific EEG patterns were found in 90% of both groups. The clinical signs and symptoms of our patients closely resemble those in familial AS cases reported in the literature, with the exception of scoliosis, which was present in 55% of the patients in our study. We conclude that the absence of a detectable cytogenetic or molecular defect at the AS locus is not associated with a strikingly different AS phenotype, compared to those with such a defect. Mutation analysis of the UBE3A gene in our patients without a detectable genetic defect, especially in the familial cases, is currently underway

Contains fulltext : 20764___.PDF (Publisher’s version ) (Open Access)

Contains fulltext : 22026___.PDF (Publisher’s version ) (Open Access)

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.