Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy (2021)

Type of publication:
Journal article

Author(s):
Quinlivan, R; Messer, B; Murphy, P; Astin, R; Mukherjee, R; Khan, J; Emmanuel, A; Wong, S C; Kulshresha, R; Willis, T; Pattni, J; *Willis, D; Morgan, A; Savvatis, K; Keen, R; Bourke, J; Marini Bettolo, C; Hewamadduma, C; ANSN

Citation:
Journal of Neuromuscular Diseases; Sep 2021 [epub ahead of print]

Abstract:
There are growing numbers of adults with Duchenne Muscular Dystrophy living well into their fourth decade. These patients have complex medical needs that to date have not been addressed in the International standards of care. We sought to create a consensus based standard of care through a series of multi-disciplinary workshops with specialists from a wide range of clinical areas: Neurology, Cardiology, Respiratory Medicine, Gastroenterology, Endocrinology, Palliative Care Medicine, Rehabilitation, Renal, Anaesthetics and Clinical Psychology. Detailed reports of evidence reviewed and the consensus building process were produced following each workshop and condensed into this final document which was approved by all members of the Adult North Star Network including service users. The aim of this document is to provide a framework to improve clinical services and multi-disciplinary care for adults living with Duchenne Muscular Dystrophy.

An unusual presentation of dysarthria in a young patient, a stroke mimic (2021)

Type of publication:
Journal article

Author(s):
*Simpson D.; *David O.; Nasr F

Citation:
Acute Medicine; Jun 2021; vol. 20 (no. 2); p. 140-143

Abstract:
Internal carotid artery dissection commonly affects younger patients. We present a case of a previously fit and well 43-year-old gentleman who presented with a sudden onset of slurring of speech, with right-sided tongue deviation and fasciculation on examination. Signs and symptoms began following participation in a home workout class. Magnetic resonance angiography revealed right-sided extracrainal internal carotid artery dissection leading to right-sided unilateral twelfth cranial nerve palsy.

Supratentorial vs infratentorial posterior calvarial distraction osteogenesis for the increase of ICV in children with syndromic or multi-suture craniosynostosis: a retrospective cohort study (2021)

Type of publication:
Journal article

Author(s):
Sharman J.; Rodrigues D.; McGuirk S.; *Panikkar M.; Nishikawa H.; Dover S.; Evans M.; White N.

Citation:
Child’s Nervous System; 2021 [epub ahead of print]

Abstract:
Purpose: Craniosynostosis is the premature and pathological fusion of calvarial sutures. One modality of surgical treatment of syndromic craniosynostosis is posterior calvarial distraction (PCD). This can be either supratentorial or infratentorial. Currently, supratentorial PCD may be regarded as safer but produces a smaller increase in calvarial volume compared to infratentorial PCD. This study quantifies and compares the effectiveness of supratentorial and infratentorial PCD to help guide surgical decision-making. Method(s): The CT and/or MRI scans of 47 cases of craniosynostosis who underwent PCD from the Birmingham Children’s Hospital (BCH) were converted to sagittal series multi-planar reformatted (MPR) scans for the manual calculation of ICV. The 47 cases were classified as having undergone either supratentorial or infratentorial PCD using lateral plain film radiographs, with 28 and 32 pairs of pre- and post-operative CT/MRI scans reviewed respectively. Result(s): A statistically significant difference between supratentorial and infratentorial PCD was observed for the increase in supratentorial volume (STV) (P = 0.0458) and total intracranial volume (TICV) (P = 0.0437), but not for the increase in infratentorial volume (ITV) (P = 0.0697). The relationship for each volume trended towards convergence but was not achieved before the physical limit of 30 mm distraction had been reached. Intraclass correlation coefficient values for agreement of MRI and CT scans for STV, ITV and total ICV were 0.852, 0.864 and 0.854 respectively. Conclusion(s): Our evidence suggests that supratentorial PCD is more effective for increasing ICV in a clinical setting. CT and MRI imaging modalities are acceptably clinically interchangeable for calculating ICV in craniosynostosis.

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Benign thyroid swelling presenting as Horner’s syndrome (2020)

Type of publication:
Journal article

Author(s):
*Shaji S.K.; *Chan J.; *Hari C

Citation:
BMJ Case Reports; Dec 2020; vol. 13 (no. 12).

Abstract:
Horner’s syndrome is a rare neurological condition seen in association with the disruption in the sympathetic nerve supply. Thyroid swelling is a common condition but rarely causes cervical sympathetic chain compression. We describe a case of a 54-year-old man who presented with Horner’s syndrome secondary to a benign thyroid nodule with pressure effect on the sympathetic chain. An association between thyroid pathologies and Horner’s syndrome has been mentioned previously, however, to our knowledge, this is the first case of Horner’s syndrome being the initial presentation for an underlying benign thyroid swelling.

Link to full-text [NHS OpenAthens account required]

The Cortical Basal ganglia Functional Scale (CBFS): Development and preliminary validation (2020)

Type of publication:
Journal article

Author(s):
Lang A.E.; Stebbins G.T.; Wang P.; Boxer A.L.; Jabbari E.; Morris H.; Lamb R.; Boxer (PI) A.; Boeve B.; Dickerson B.; Grossman M.; Litvan I.; Ljubenkov P.; Rojas-Martinez J.; Pantelyat A.; Tartaglia M.-C.; Wills A.-M.; Morris (PI) H.; Amar K.; *Capps E.; Carey G.; Church A.; Critchley P.; Ghosh B.; Houlden H.; Hu M.; Kobylecki C.; Massey L.; Molloy S.; Nath U.; Pavese N.; Rowe J.B.

Citation:
Parkinsonism and Related Disorders; Oct 2020; vol. 79 ; p. 121-126

Abstract:
Objective: To develop a patient/care-giver reported scale capable of easily and reliably assessing functional disability in 4 repeat tauopathies (4RTs). Background(s): 4R tauopathies including progressive supranuclear palsy, corticobasal degeneration and a subset of frontotemporal dementias manifest a range of overlapping clinical phenotypes. No available rating scale is capable of evaluating the functional impact of these complex disorders. Method(s): A multi-staged modified Delphi process was used to propose, evaluate and rank potential scale items providing content validity ratios. Staged cognitive pretesting involving input from examiners, patients and caregivers was followed by validation testing in patients participating in the 4R Tauopathy Neuroimaging Initiative or the PROgressive Supranuclear Palsy CorTico-Basal Syndrome MSA Longitudinal Study. Clinimetric properties were examined using classical test theory and item response methods, assessing data quality, reliability, construct validity, convergent validity and known-group validity. Result(s): The resultant Cortical Basal ganglia Functional Scale (CBFS) included questions on Motor Experiences in Daily Living (14 items) and Non-Motor Experiences of Daily Living (17 items). Reliability was acceptable for internal consistency, test-retest stability, item discrimination, item-scaling thresholds and item-fit. Examination of construct validity revealed a parsimonious two-factor solution, and concurrent validity demonstrated significant correlations between the CBFS and other measures of disease severity and functional impairment. The CBFS significantly discriminated between all diagnostic groups and controls (all AUCs>90). The CBFS scores demonstrated sensitivity to change over a 12 month follow-up in patients with probable 4RTs. Conclusion(s): The CBFS is a patient/care-giver reported outcome measure with excellent clinimetric properties that captures disability correlated with motor, cognitive and psychiatric impairments.

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Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome (2019)

Type of publication:
Journal article

Author(s):
Jabbari E, Holland N, Chelban V, Jones PS, Lamb R, Rawlinson C, Guo T, Costantini AA, Tan MMX, Heslegrave AJ, Roncaroli F, Klein JC, Ansorge O, Allinson KSJ, Jaunmuktane Z, Holton JL, Revesz T, Warner TT, Lees AJ, Zetterberg H, Russell LL, Bocchetta M, Rohrer JD, Williams NM, Grosset DG, Burn DJ, Pavese N, Gerhard A, Kobylecki C, Leigh PN, Church A, Hu MTM, Woodside J, Houlden H, Rowe JB, Morris HR.

Patients at Shrewsbury and Telford Hospital NHS Trust were recruited into this study.

Citation:
JAMA Neurol. 2019 Dec 20 [Epub ahead of print]

Abstract:
IMPORTANCE:
Atypical parkinsonian syndromes (APS), including progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA), may be difficult to distinguish in early stages and are often misdiagnosed as Parkinson disease (PD). The diagnostic criteria for PSP have been updated to encompass a range of clinical subtypes but have not been prospectively studied.

OBJECTIVE:
To define the distinguishing features of PSP and CBS subtypes and to assess their usefulness in facilitating early diagnosis and separation from PD.

DESIGN, SETTING, PARTICIPANTS:
This cohort study recruited patients with APS and PD from movement disorder clinics across the United Kingdom from September 1, 2015, through December 1, 2018. Patients with APS were stratified into the following groups: those with Richardson syndrome (PSP-RS), PSP-subcortical (including PSP-parkinsonism and progressive gait freezing subtypes), PSP-cortical (including PSP-frontal and PSP-CBS overlap subtypes), MSA-parkinsonism, MSA-cerebellar, CBS-Alzheimer disease (CBS-AD), and CBS-non-AD. Data were analyzed from February 1, through May 1, 2019.

MAIN OUTCOMES AND MEASURES:
Baseline group comparisons used (1) clinical trajectory; (2) cognitive screening scales; (3) serum neurofilament light chain (NF-L) levels; (4) TRIM11, ApoE, and MAPT genotypes; and (5) volumetric magnetic resonance imaging measures.

RESULTS:
A total of 222 patients with APS (101 with PSP, 55 with MSA, 40 with CBS, and 26 indeterminate) were recruited (129 [58.1%] male; mean [SD] age at recruitment, 68.3 [8.7] years). Age-matched control participants (n = 76) and patients with PD (n = 1967) were included for comparison. Concordance between the antemortem clinical and pathologic diagnoses was achieved in 12 of 13 patients with PSP and CBS (92.3%) undergoing postmortem evaluation. Applying the Movement Disorder Society PSP diagnostic criteria almost doubled the number of patients diagnosed with PSP from 58 to 101. Forty-nine of 101 patients with reclassified PSP (48.5%) did not have the classic PSP-RS subtype. Patients in the PSP-subcortical group had a longer diagnostic latency and a more benign clinical trajectory than those in PSP-RS and PSP-cortical groups. The PSP-subcortical group was distinguished from PSP-cortical and PSP-RS groups by cortical volumetric magnetic resonance imaging measures (area under the curve [AUC], 0.84-0.89), cognitive profile (AUC, 0.80-0.83), serum NF-L level (AUC, 0.75-0.83), and TRIM11 rs564309 genotype. Midbrain atrophy was a common feature of all PSP groups. Eight of 17 patients with CBS (47.1%) undergoing cerebrospinal fluid analysis were identified as having the CBS-AD subtype. Patients in the CBS-AD group had a longer diagnostic latency, relatively benign clinical trajectory, greater cognitive impairment, and higher APOE-ε4 allele frequency than those in the CBS-non-AD group (AUC, 0.80-0.87; P < .05). Serum NF-L levels distinguished PD from all PSP and CBS cases combined (AUC, 0.80; P < .05).

CONCLUSIONS AND RELEVANCE:
These findings suggest that studies focusing on the PSP-RS subtype are likely to miss a large number of patients with underlying PSP tau pathology. Analysis of cerebrospinal fluid defined a distinct CBS-AD subtype. The PSP and CBS subtypes have distinct characteristics that may enhance their early diagnosis.

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Audit of Brivaracetam in a Secondary Level Epilepsy Service (2019)

Type of publication:
Poster presentation

Author(s):
Rowe, J., Youssef, C., Tittensor, P., Manfredonia, F., *Smyth, C., Doherty, C.

Citation:
Poster presentation at ILAE British Branch Annual Scientific Meeting, 2-4 October 2019, Birmingham

Abstract:
A multicentre audit of the use Brivaracetam was carried out. Data were collated from 3 sites, The Royal Wolverhampton NHS Trust, Shrewsbury and Telford Hospitals NHS Trust and Walsall Healthcare NHS Trust Brivaracetam has shown efficacy and good tolerability and our experience suggests that it is a suitable add-on treatment for patients with refractory focal epilepsy. The very low rate of discontinuation for mood or behaviour reasons, particularly in the ID patients, indicates that it has the potential to be a positive choice for people with ID where issues have been noted on other medications, most notably Levetiracetam.

Normal acutely performed CT scan of the brain may give a false sense of safety prior to use of antiplatelets in transient focal (2017)

Type of publication:
Conference abstract

Author(s):
*McNeela N.; *Srinivasan M.

Citation:
Cerebrovascular Diseases; Jul 2017; vol. 43 ; p. 116

Abstract:
Transient focal neurological episodes (TFNE) are frequently assumed to be transient ischaemic attacks (TIAs) in older patients who are then started on antiplatelets for stroke prevention. Imaging with a CT scan of the brain reported as normal or not suggesting haemorrhage can give a false sense of security with regard to therapeutic decision making. Current UK stroke guidelines do not emphasise the need for imaging (either CT or MRI) in transient ischaemic attacks with NICE guidance recommending treat with aspirin immediately and then refer to stroke services for further management. Imaging is then only recommended for patients where the vascular territory or pathology is uncertain with diffusion weighted MRI scans. In cases where MRI is contraindicated second line imaging is a CT head. We present two cases of patients who presented with symptoms of TFNEs treated as TIAs who then subsequently developed haemorrhagic strokes. The first case is of an 80 year old lady with new onset atrial fibrillation who presented with transient face and arm paraesthesia and dysarthria. Following a normal CT head she was started on anticoagulation and discharged home. She subsequently represented with a further two episodes and each time underwent a repeat imaging which again showed no abnormalities until she eventually succumbed to a massive right cortical intracranial haemorrhage. The second case involves a 68 year old gentleman with no significant past medical history other than a recent headache who presented with recurrent symptoms of left face and arm paraesthesia and dysarthria. A CT scan of the brain was normal and so he was treated with antiplatelets for a presumed TIA and discharged. However within six hours he deteriorated with dense left hemiplegia and reduced consciousness. A repeat CT showed a large right frontoparietal bleed with midline shift requiring referral to neurosurgeons. These cases highlight how a CT head in an acute presentation with transient symptoms can be misleading. One option would be consideration of blood sensing MRI scans in investigation of TFNE verses TIA diagnoses. As TFNEs often to present as descending paresthesia, we would recommend all patients with this presentation to undergo urgent inpatient MRI scans before being commenced on treatment.

An audit of the Shrewsbury and Telford two week wait CNS malignancy pathway referrals over six months (2015)

Type of publication:
Poster presentation

Author(s):
*Metcalfe R, *Bowen J

Citation:
West Midlands Regional Neuroscience Meeting, 13 Nov 2015

Abstract:

An audit of the Shrewsbury and Telford two week wait CNS malignancy pathway referrals
over six months. By Metcalfe R*, Bowen J**
*Final year medical student, Keele University Medical School.
**Consultant Neurologist, Shrewsbury and Telford Hospital NHS trust (SaTH).
Word Count: 232 words.

Introduction:

  • The overall incidence of brain tumours in the U.K. is around 7/100,001
  • To promote early diagnosis a fast track “2 week wait” pathway exists for prompt diagnosis and initiation of management of brain/CNS tumours
  • In SaTH standardised suspected CNS malignancy referral proformas2 are faxed to meet 2 week targets appointments

Aim:

To undertake an audit to address the following:

  • Did referrals adhere to proforma criteria?
  • What proportion was seen within two weeks?
  • Is the process fit for purpose?

Methodology:

  • Case note review of all patients referred via the two week CNS Cancer pathway over a sixth month period from 1st July 2014 to 1st January 2015

Results:

  • Over the 6 months >98 % (120/122) referred via the two week wait pathway fulfilled the
    criteria on the proforma
  • Only 5.7% (7/122) were not seen within two weeks
  • 2 patients were diagnosed with brain metastases
  • No patients were diagnosed with a primary brain tumour

Conclusions:

  • Despite adherence of over 98% no case of primary brain tumour was detected over the six month period and 2 (1.6%) of patients referred had brain metastases
  • The current system is not effective at picking up brain tumours

Suggestions:

  • These results will be shared with local primary care groups and the referral criteria refined
  • A reaudit to assess impact of changes will be undertaken

References:
1. McKinney PA. J Neurol Neurosurg Psychiatry 2004;75:ii12-ii17
2. Shrewsbury and Telford Hospital NHS trust. Brain and CNS Cancer Two Week Wait
Referral Proforma. [internet] 2012 [Cited 6th October 2015] Available from:
www.sath.nhs.uk/Library/Documents/gpconnect/gpinfo/Brain%20and%20CNS
%20Cancer%20TWW%20Referral%20Proforma%20_V1_.pdf