Papers by Dominic Thompson
BJOG: An International Journal of Obstetrics & Gynaecology
BackgroundAbnormal intracranial findings are often detected at mid‐trimester ultrasound (US) in f... more BackgroundAbnormal intracranial findings are often detected at mid‐trimester ultrasound (US) in fetuses with myelomeningocele (MMC). It is unclear whether these findings constitute a spectrum of the disease or are an independent finding, which should contraindicate fetal surgery.ObjectiveTo ascertain the spectrum and frequency of US‐detected cranial findings in fetuses with MMC.Search strategyMEDLINE, Embase, Web of Science and CENTRAL were searched from January 2000 to June 2020.Selection criteriaStudy reporting incidence of cranial US findings in consecutive cases of second‐trimester fetuses with MMC.Data collection and analysisPublication quality was assessed by Newcastle–Ottawa Scale (NOS) and modified NOS. Meta‐analysis could not be performed as a result of high clinical diversity and study heterogeneity.Main resultsFourteen cranial US findings were reported in 15 studies. Findings in classic Chiari II malformation (CIIM) spectrum included posterior fossa funnelling (96%), smal...
Objective Encephaloceles are considered to result from defects in the developing skull through wh... more Objective Encephaloceles are considered to result from defects in the developing skull through which meninges, and potentially brain tissue, herniate. The pathological mechanism underlying this process is incompletely understood. We aimed to describe the location of encephaloceles through the generation of a group atlas to determine whether they occur at random sites or clusters within distinct anatomical regions. Methods Patients diagnosed with cranial encephaloceles or meningoceles were identified from a prospectively maintained database between 1984 and 2021. Images were transformed to atlas space using non-linear registration. The bone defect, encephalocele and herniated brain contents were manually segmented allowing for a 3-dimensional heat map of encephalocele locations to be generated. The centroids of the bone defects were clustered utilising a K-mean clustering machine learning algorithm in which the elbow method was used to identify the optimal number of clusters. Results...
Neuro-oncology, 2003
... Citation: Neuro-oncology, 5(1): 70. Publisher: Society for Neuro-Oncology and Duke University... more ... Citation: Neuro-oncology, 5(1): 70. Publisher: Society for Neuro-Oncology and Duke University Press. Journal : Neuro-oncology. ... Language: en. Description: Abstracts from Neuro-Oncology are provided here courtesy of Society for Neuro-Oncology and Duke University Press. ...
Neuro-oncology, 2006
... Citation: Neuro-oncology, 8(4): 468. Publisher: Society for Neuro-Oncology and Duke Universit... more ... Citation: Neuro-oncology, 8(4): 468. Publisher: Society for Neuro-Oncology and Duke University Press. Journal : Neuro-oncology. ... Language: en. Description: Abstracts from Neuro-Oncology are provided here courtesy of Society for Neuro-Oncology and Duke University Press. ...
Neuro-oncology, 2003
Glial cell tumours represent the largest group of brain tumours in childhood and include astrocyt... more Glial cell tumours represent the largest group of brain tumours in childhood and include astrocytoma (WHO grades I-IV) and ependymoma (WHO grade II-III). However, little is known about the pathogenesis of these tumours. We have used comparative genomic hybridisation (CGH) to investigate ...
Genes, Chromosomes and Cancer, Nov 1, 2008
Loss of chromosome 22 and gain of 1q are the most frequent genomic aberrations in ependymomas, in... more Loss of chromosome 22 and gain of 1q are the most frequent genomic aberrations in ependymomas, indicating that genes mapping to these regions are critical in their pathogenesis. Using real-time quantitative PCR, we measured relative copy numbers of 10 genes mapping to 22q12.3-q13.33 and 10 genes at 1q21-32 in a series of 47 pediatric intracranial ependymomas. Loss of one or more of the genes on 22 was detected in 81% of cases, with RAC2 and C22ORF2 at 22q12-q13.1 being deleted most frequently in 38% and 32% of ependymoma samples, respectively. Combined analysis of quantitative-PCR with methylation-specific PCR and bisulphite sequencing revealed a high rate (>60% ependymoma) of transcriptional inactivation of C22ORF2, indicating its potential importance in the development of pediatric ependymomas. Increase of relative copy numbers of at least one gene on 1q were detected in 61% of cases, with TPR at 1q25 displaying relative copy number gains in 38% of cases. Patient age was identified as a significant adverse prognostic factor, as a significantly shorter overall survival time (P 5 0.0056) was observed in patients <2 years of age compared with patients who were >2 years of age. Loss of RAC2 at 22q13 or amplification of TPR at 1q25 was significantly associated with shorter overall survival in these younger patients (P 5 0.0492 and P 5 < 0.0001, respectively). This study identifies candidate target genes within 1q and 22q that are potentially important in the pathogenesis of intracranial pediatric ependymomas. V
Journal of Neurosurgery, Mar 1, 2001
AISED ICP may complicate all forms of craniosynostosis. 21 It rarely occurs when only one suture ... more AISED ICP may complicate all forms of craniosynostosis. 21 It rarely occurs when only one suture is involved, 23 becomes more prevalent as more sutures become involved, and is most common in syndromic cases-particularly in patients with Crouzon or Pfeiffer syndrome. Several factors are known to contribute to raised ICP in patients with craniosynostosis, 19 including craniocerebral disproportion, hydrocephalus, the secondary effects of respiratory obstruction, and venous hypertension. 19 Although in rare but well-recognized instances it can cause papilledema leading to optic atrophy, reduced visual acuity, and even blindness, 16 the significance of increased ICP in most children with syndromic craniosynostosis remains unknown. Nevertheless, in cases in which ICP monitoring may record plateau pressures as high as 40 to 50 mm Hg, 21 it is clearly an important factor to consider when making decisions concerning treatment. The practical importance of anomalous intracranial venous drainage became clear to us in a dramatic fashion in an 8-year-old girl who had cloverleaf skull deformity and Pfeiffer syndrome. Having made a bicoronal incision in this patient, at the start of an operation designed to expand her skull posteriorly (to allow subsequent reduction of temporal bossing to be achieved without raising ICP), we
Childs Nervous System, Dec 6, 2014
Background Terminal myelocystocele is a severe form of spinal dysraphism characterized by cystic ... more Background Terminal myelocystocele is a severe form of spinal dysraphism characterized by cystic expansion of the terminal spinal cord that herniates through a deficiency of the posterior sacral spinal elements to fuse with the subcutaneous fat. Postnatal enlargement of the subcutaneous fluid-filled sac may result in progressive neurological deficit and threaten the viability of the overlying skin. Surgical repair entails spinal cord untethering, resection of nonfunctional neural elements and watertight reconstruction of the terminal thecal sac. Young age at the time of surgery, large dural defect, attenuated tissues and locally altered CSF dynamics frequently mean that wound complications including CSF leakage and pseudomeningocele formation are common. Technique With consideration of these requirements, we describe our surgical technique in terminal myelocystocele repair, which combines a novel surgical incision and for the first time in a neurosurgical setting, the use of a de-epithelialized skin flap to augment the closure. We report successful operative outcomes in three infant patients with terminal myelocystocele.
Childs Nervous System, Nov 1, 1996
We studied a group of children (aged 2.2-15 years) with craniofacial dysostosis and obstructive s... more We studied a group of children (aged 2.2-15 years) with craniofacial dysostosis and obstructive sleep apnoea to assess the use of nasal continuous positive airway pressure (n-CPAP) as a palliative form of treatment. A variable period of time was allowed for acclimatisation to n-CPAP (1 day to 2 months), depending on the patient. Patients were then admitted for their first CPAP trial. Baseline breathing difficulty and the effectiveness of n-CPAP were assessed by respiratory sleep studies. Successful results were obtained with n-CPAP in five of the eight patients, with marked clinical and polygraphic improvements of the respiratory pattern immediately after n-CPAP was established. Of the remaining three cases, one child needed a prolonged period of acclimatisation to the n-CPAP system, one was withdrawn from the study, and one failed to respond to n-CPAP and was found to have complete blockage of the upper airways as a result of enlarged adenoids. Our results confirm that n-CPAP can be tolerated even by young patients and can be effective, and that it may be a useful alternative palliative treatment for obstructive sleep apnoea in children with craniofacial syndromes.
Journal of Neurosurgery: Pediatrics
OBJECTIVE Cervical spine disorders in children are relatively uncommon; therefore, paradigms for ... more OBJECTIVE Cervical spine disorders in children are relatively uncommon; therefore, paradigms for surgical and nonsurgical clinical management are not well established. The purpose of this study was to bring together an international, multidisciplinary group of pediatric cervical spine experts to build consensus via a modified Delphi approach regarding the clinical management of children with cervical spine disorders and those undergoing cervical spine stabilization surgery. METHODS A modified Delphi method was used to identify consensus statements for the management of children with cervical spine disorders requiring stabilization. A survey of current practices, supplemented by a literature review, was electronically distributed to 17 neurosurgeons and orthopedic surgeons experienced with the clinical management of pediatric cervical spine disorders. Subsequently, 52 summary statements were formulated and distributed to the group. Statements that reached near consensus or that were ...
Journal of Neurosurgery: Pediatrics, 2021
OBJECTIVE Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessi... more OBJECTIVE Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessive disease caused by tripeptidyl peptidase 1 enzyme deficiency. At the authors’ center, the medication cerliponase alfa is administered every 2 weeks via the intracerebroventricular (ICV) route. This requires the placement of a ventricular access device (VAD) or reservoir and frequent percutaneous punctures of this device over the child’s lifetime. In this study, the authors audited the longevity and survival of these VADs and examined the causes of device failure. METHODS A single-center survival analysis of VAD insertions and revisions (January 2014 through June 2020) was conducted. All children received cerliponase alfa infusions through a VAD. Patient characteristics and complications were determined from a prospectively maintained surgical database and patient records. For the VAD survival analysis, the defined endpoint was when the device was removed or changed. Reservoir survival ...
Digital poster presentations, 2020
to-face. The DNA rate was 11.2%. In the three post-pandemic months this year, 101 clinics with 11... more to-face. The DNA rate was 11.2%. In the three post-pandemic months this year, 101 clinics with 1171 patients were booked, 60.5% of these being telephonic, and total DNA was significantly reduced to 5.9% (p<0.05). Additionally, there was a 38% increase in the numbers of patients assessed in the clinic. Conclusions The shift from having only face-to-face clinics to virtual clinics has led to increase in the number of clinics allowing more patients to be assessed, with improved DNA rates during and after the pandemic. Given the nature of the specialty, a large proportion of children will continue to need on-site assessment, but the service challenges imposed by the pandemic has created opportunities for smarter and higher volume working using technological means within a busy outpatient service.
Journal of Neurosurgery: Pediatrics, 2021
OBJECTIVE The objective of this study was to assess the prevalence and spectrum of spinal dysraph... more OBJECTIVE The objective of this study was to assess the prevalence and spectrum of spinal dysraphism in a cohort of children with cloacal exstrophy (CEX) using MRI. METHODS Children with CEX presenting between 1999 and 2019 with baseline spinal MRI were included. The images were reviewed in consensus to assess the type of dysraphism. The dysraphisms were initially reviewed and described based on their descriptive anatomy, and then classified according to anomalies of gastrulation, primary neurulation, or secondary neurulation. RESULTS Thirty-four children were included. Thirty-three of these children had closed spinal dysraphism, and 1 had a normal spine. Of the 33 cases of closed spinal dysraphism, the conus and/or filum terminale were involved in all cases. The most common malformations were spinal lipoma (n = 20) and terminal myelocystocele (n = 11). The lipomas were heterogeneous: 4 dorsal, 9 transitional, 4 chaotic, and 3 terminal. A large subgroup (10/20, 50%) within the lipom...
Child's Nervous System, 2020
Aims The aims were to evaluate the safety of manipulation under anaesthesia (MUA) for atlantoaxia... more Aims The aims were to evaluate the safety of manipulation under anaesthesia (MUA) for atlantoaxial rotatory fixation (AARF) and the relative efficacy of rigid collar vs halo-body orthosis (HBO) in avoiding relapse and the need for open surgery. Methods Cases of CT-verified AARF treated by MUA were identified from a neurosurgical operative database. Demographic details, time to presentation and aetiology of AARF were ascertained through case note review. Cases were divided according to method of immobilisation after successful reduction, either rigid collar (group 1) or HBO (group 2). The primary outcome measure was relapse requiring open surgical arthrodesis. Results Thirty-three patients (2.2–12.7 years) satisfied inclusion criteria. Time to presentation varied from 1 day to 18 months. There were 19 patients in group 1 and 14 in group 2. There were no adverse events associated with MUA. 9/19 (47%) patients in group 1 resolved without need for further treatment compared with 10/14 (...
Child's Nervous System, 2021
Nature Reviews Nephrology, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in adults... more Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in adults, with an estimated prevalence of 1 in 500-2,500 (refs 1-4). Cyst development starts early in life, and macroscopic cysts can become detectable in childhood. Substantial disease burden with massively enlarged kidneys or decreased glomerular filtration rate (GFR) usually does not occur until adulthood 5 ; however, approximately 3% of children who carry ADPKD-causing mutations have either very-early-onset or unusually rapid progressive disease 5-7. Thus, the absolute incidence of symptomatic ADPKD in childhood is thought to be higher than that of other severe paediatric kidney diseases such as autosomal recessive polycystic kidney disease (~1 in 20,000), nephrotic syndrome (~1 in 50,000) 8 or haemolytic uraemic syndrome (~1 in 100,000 children) 9. The past 25 years have seen remarkable progress in knowledge of ADPKD. Advances have been made in unravelling the genetic origins of the disease, in noninvasive monitoring and in predicting disease progression; multiple large-scale clinical trials have been conducted; and the first pharmacological treatment for
Birth Defects Research Part A: Clinical and Molecular Teratology, 2013
BACKGROUNDLamins are intermediate filament proteins that form a major component of the nuclear la... more BACKGROUNDLamins are intermediate filament proteins that form a major component of the nuclear lamina, a protein complex at the surface of the inner nuclear membrane. Numerous clinically diverse conditions, termed laminopathies, have been found to result from mutation of LMNA. In contrast, coding or loss of function mutations of LMNB1, encoding lamin B1, have not been identified in human disease. In mice, polymorphism in Lmnb1 has been shown to modify risk of neural tube defects (NTDs), malformations of the central nervous system that result from incomplete closure of the neural folds.METHODSMutation analysis by DNA sequencing was performed on all exons of LMNB1 in 239 samples from patients with NTDs from the United Kingdom, Sweden, and United States. Possible functional effects of missense variants were analyzed by bioinformatics prediction and fluorescence in photobleaching.RESULTSIn NTD patients, we identified two unique missense variants that were predicted to disrupt protein st...
Neuro- …, 2003
Ependymomas arise from the ependymal cells lining the ventricular system of the CNS and account f... more Ependymomas arise from the ependymal cells lining the ventricular system of the CNS and account for approximately 10% of paediatric brain tumours. Approximately 70% of ependymomas are histologically benign and correspond to WHO grade II, whilst the remainder are ...
Journal of Neurology, Neurosurgery & Psychiatry, 1994
Three cases of haemorrhage after the use of a silastic dural substitute are presented. In all cas... more Three cases of haemorrhage after the use of a silastic dural substitute are presented. In all cases the implant was removed and further haemorrhage has not occurred. Published work is reviewed and the implications for the continued use of silastic are discussed.
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Papers by Dominic Thompson