Clinical Neuroscience

A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy

CAKMAK Öztop Özgür1, EREN Ilker2, ASLANGER Ayca3, GÜNERBÜYÜK Caner, KAYSERILI Hülya3, OFLAZER Piraye1, SAR Cüneyt4, DEMIRHAN Mehmet2, ÖZDEMIR Gürsoy Yasemin1

SEPTEMBER 30, 2018

Clinical Neuroscience - 2018;71(09-10)

DOI: https://doi.org/10.18071/isz.71.0337

Background - Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. Patients and methods - 32 FSHD patients were collected between 2015-2016. Demographical and clinical features were documented. All the patients were neurologically examined. The Medical Research Council (MRC) and the FSHD evaluation scale was used to assess muscle involvement1. Scapulothoracic arthrodesis and spinal stenosis surgeries were performed in eligible patients. Results - There were 16 male and 16 female (mean age 34.4 years; range 12-73) patients. 6 shoulders of 4 patients aged between 2132 years underwent scapulothoracic arthrodesis (two bilateral, one left and one right sided). Only one 63 years old female patient with severe hyperlordosis had spinal fusion surgery. All of the patients undergoing these corrective surgeries have better functionality in daily life, as well as superior shoulder elevation. Conclusion - Until the emergence and clinical use of novel therapeutics, surgical interventions are indicated in carefully selected patients with FSHD to improve arm movements, the posture and the quality of life of patients in general. Scapulothorosic arthrodesis is a management with good clinical results and patient satisfaction. In selected cases other corrective orthopedic surgeries like spinal fusion may also be considered.

AFFILIATIONS

  1. Koç University, School of Medicine, Department of Neurology, Istanbul, Turkey
  2. Koç University, School of Medicine, Department of Orthopaedics and Traumatology, Istanbul, Turkey
  3. Koç University, School of Medicine, Department of Medical Genetics, Istanbul, Turkey
  4. Istanbul University, Istanbul Faculty of Medicine, Department of Orthopaedics and Traumatology, Istanbul, Turkey

COMMENTS

0 comments

Further articles in this publication

Clinical Neuroscience

[Diagnosis of multiple sclerosis: A review of the 2017 revisions of the McDonald criteria]

CSÉPÁNY Tünde

[The revolutionary progress of research in neuroimmu­nology has led to the introduction of disease modifying therapies in multiple sclerosis at the end of the last century. The International Panel on Diagnosis of Multiple Sclerosis originally proposed the 2001 McDonald criteria to facilitate the diagnosis of MS in patients with the first objective neurological symptom(s) suggesting demyelinating event, when magnetic resonance imaging is integrated with clinical and other paraclinical diagnostic methods. New terms have been introduced to substitute clinical information by MRI: dissemination in space - indicating a multifocal central demyelinating process and dissemination in time - indicating the development of new CNS lesions over time. The criteria for diagnosis of Multiple Sclerosis have continuously evolved, they were modified in 2005 and 2010 allowing for an earlier and more accurate diagnosis of MS over time, and they provided the most up-to-date guidance for clinicians and researchers. The last recommended revisions relied entirely on available evidence, and not on expert opinion thereby reducing the risk of the misdiagnosis. The 2017 McDonald criteria continue to apply primarily to patients experiencing a typical, clinically isolated syndrome. In this review, we provide an overview of the recent 2017 revisions to the criteria of dissemination in space and time with the importance of the presence of CSF-specific oligoclonal bands; keeping fully in mind that there is no better explanation for symptoms than diagnosis of MS. In the future, validation of the 2017 McDonald criteria will be needed in diverse populations. Further investigations are required on the value of new MRI approaches, on optic nerve involvement, on evoked potential and optical coherence tomography, in order to assess their possible contribution to diagnostic criteria.]

Clinical Neuroscience

Acute motor and sensory axonal neuropathy associated with Sjögren’s syndrome

ETHEMOGLU Ozlem, KOCATÜRK Özcan, TARINI Zeynep Emine

Sjögren’s syndrome (SS) is an autoimmune disease with mononuclear cell infiltration and destruction of the lacrimal gland and salivary glands, which cause dryness of the eyes and mouth. The most common neurological condition seen in SS is peripheral neuropathy. Initial manifestation of SS as an acute fulminant peripheral neuropathy is extremely rare. We report a 42-year-old patient presenting with acute motor sensory-axonal neuropathy in the presence of SS. She showed partial response to intravenous immunoglobulin but favourable clinical improvement was seen after initiation of corticosteroid treatment.

Clinical Neuroscience

[The evaluation of paroxysmal events in neonates and infants]

NAGY Eszter, FARKAS Nelli, HOLLÓDY Katalin

[Introduction - Differential diagnosis of neonatal and infantile seizures based only on inspection poses a challenge even for specialists. Aims - To investigate the evaluations of neonatal and infantile paroxysmal events based only on inspection. Research question - Is there any difference in the opinion of neonatologists, paediatric neurologists and neurologists about the assessment of common paroxysmal events in infancy? Patients and methods - Video recordings about paroxysmal movements of 15 neonates or infants (aged 2 days- 5 months) were displayed for 47 paediatric neurologists, 35 neonatologists and nurses working in Neonatal or Perinatal Intensive Care Units and 43 neurologists. They had to decide without knowing the past medical history or EEG results whether events presented were epileptic or nonepileptic in nature. Results - Answers of neonatologists and paediatric neurologists were correct in 67% of cases (824/1230), no significant difference was found between their results. The largest uncertainty was in the judgement of discrete hand movements and very rapid clonus with epileptic origin, they were judged correctly by only one third of participants. The result of neurologists was only slightly, but not significantly different from that of paediatric neurologists. Conclusion - In most cases, the correct diagnosis of neonatal and infantile paroxysmal events requires video-EEG recording. No significant difference was revealed between the evaluation of neonatologists and paediatric neurologists about the differential diagnosis of movements. The ongoing cooperation of paediatric neurologists and neurologists going back to several decades facilitates the shaping of a common perspective.]

Clinical Neuroscience

Anterior cerebral artery infarcts; two years follow-up study

LÜTFÜ Hanoglu, ELMIR Khanmammadov, SEMA Demirci, ÜMMÜHAN Altin, DURSUN Kirbaş, TAHA Hanoglu, BURAK Yulug

Objectives – Anterior cerebral infarct (ACA) infarcts are reported very rare that is due to the compensatory collateral circulation provided by the anterior communicating artery. There are very few studies reporting the long-term follow-up results of ACA infarcts regarding their aetiology, clinical features and prognosis. Most studies reported in the literature vary between several months to one year. Patients and methods – A total of 27 patients with ACA infarcts were registered (14 women and 13 men). The mean age of the patients was 68.5 (age range: 45–89 years). Results – Bilateral ACA infarcts were reported in four patients (14.8%), right ACA infarct in 11 (40%) patients and left ACA infarct in 12 patients (44%). During the initial examination 15 patients (55.5%) were found to have apathy, 13 patients (48%) had incontinence, nine patients (33.3%) had primitive reflexes, 11 patients (40.7%) had aphasia, while six patients (22.2%) were found to suffer from neglect. At the end of one-year follow-up, five patients (22.7%) were reported to have apathy, 6 patients (27.2%) had incontinence, one patient (4.5%) had primitive reflexes, while one patient (4.5%) was found to have permanent aphasia, and no patients was found to suffer from neglect. Conclusion – Here we present our clinical data regarding the aetiology, specific clinical characteristics (including the speech disorders) and prognosis of 27 patients with ACA infarcts during a relatively longer follow-up period (3 months – 30 months) in compared to previous literature. We show that there are differences in the etiological factors of ACA infarcts between the Asian and European communities. Regarding speech disorders which are frequently reported during ACA infarcts, our study results are in agreement with other studies suggesting that this clinical picture is more than a real aphasia and associated with general hypokinesia and reduction in psychomotor activity.

Clinical Neuroscience

Caregiver burden and quality of life in early stages of idiopathic Parkinson’s disease

YUKSEL Burcu, AK Dogan Pelin, SEN Aysu, SARIAHMETOGLU Hande, USLU Celiker Sibel, ATAKLI Dilek

Objectives - The aim of this study was to assess the impact of early stage of idiopathic Parkinson’s disease (IPD) on caregiver burden with disease severity, duration, disability and psychiatric symptoms. Methods - 30 IPD patient (15 female, 15 male) - caregiver (18 female, 12 male) pairs participated in the study. Hoehn and Yahr (H-Y) scale was used to provide the assessment of disease progression and Unified Parkinson’s Disease Rating Scale (UPDRS) was used for assessing disability and impairment. Zarit Caregiver Burden Inventory (ZCBI) was used to ascertain the distress experienced by caregivers. Hospital Anxiety and Depression scale (HADS) was performed on both patient and caregiver groups to evaluate anxiety and depression. Depressive symptoms of both groups were also measured by Beck Depression Inventory (BDI). Patients’ psychotic symptoms were assessed using the part 1- mentation, behavior and mood section of UPDRS. Mini-Mental State Examination (MMSE) was used to evaluate dementia symptoms and Short Form-36 (SF-36) was also used to assess quality of life. Results - We found significant correlation between caregiver burden with disease severity and duration. There was a significant difference between high UPDRS scores and the caregiver’s will for placing her/his patient in a long-term institution. Patients who had depression risk according to BDI had also high UPDRS scores. Patients with off period had higher UPDRS scores and lower SF-36 subdomains of general health, physical functioning, emotional role and social functioning. Conclusion - IPD is a chronic, progressive neuro- degenerative disease and comprises substantial burden on patients, families of patients and caregivers. The disease duration and disability have a remarkable impact on caregiver burden. For the good quality of caregiving, protective therapies should be recommended for caregivers if needed.

All articles in the issue

Related contents

Clinical Neuroscience

[Posterior atlanto-axial transarticular screw fixation]

VERES Róbert, KENÉZ József, PENTELÉNYI Tamás

[Instability of the craniocervical junction is potentially life threatening. The most common form is the atlanto-axial instability. It can be caused by several different pathological conditions (e.g. post-traumatic, tumour, inflammatory, or degenerative). The authors describe in detail one of the latest operative methods to deal with this condition. They review the current literature and provide an illustrative example of a patient with rheumatoid arthritis. They consider the posterior atlanto-axial transarticular screw fixation an efficient, relatively safe technique.]

Clinical Neuroscience

Evaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations

EVRAN Sevket, KATAR Salim

Far lateral lumbar disc herniations (FLDH) consist approximately 0.7-12% of all lumbar disc herniations. Compared to the more common central and paramedian lumbar disc herniations, they cause more severe and persistent radicular pain due to direct compression of the nerve root and dorsal root ganglion. In patients who do not respond to conservative treatments such as medical treatment and physical therapy, and have not developed neurological deficits, it is difficult to decide on surgical treatment because of the nerve root damage and spinal instability risk due to disruption of facet joint integrity. In this study, we aimed to evaluate the effect of transforaminal epidural steroid injection (TFESI) on the improvement of both pain control and functional capacity in patients with FLDH. A total of 37 patients who had radicular pain caused by far lateral disc herniation which is visible in their lumbar magnetic resonance imaging (MRI) scan, had no neurological deficit and did not respond to conservative treatment, were included the study. TFESI was applied to patients by preganglionic approach. Pre-treatment Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) scores of the patients were compared with the 3rd week, 3rd month and 6th month scores after the procedure. The mean initial VAS score was 8.63 ± 0.55, while it was 3.84 ± 1.66, 5.09 ± 0.85, 4.56 ± 1.66 at the 3rd week, 3rd month and 6th month controls, respectively. This decrease in the VAS score was found statistically significant (p = 0.001). ODI score with baseline mean value of 52.38 ± 6.84 was found to be 18.56 ± 4.95 at the 3rd week, 37.41 ± 14.1 at the 3rd month and 34.88 ± 14.33 at the 6th month. This downtrend of pa­tient’s ODI scores was found statistically significant (p = 0.001). This study has demonstrated that TFESI is an effective method for gaining increased functional capacity and pain control in the treatment of patients who are not suitable for surgical treatment with radicular complaints due to far lateral lumbar disc hernia.

Clinical Neuroscience

[The Comprehensive Aphasia Test in Hungarian]

ZAKARIÁS Lilla, RÓZSA Sándor, LUKÁCS Ágnes

[In this paper we present the Comprehensive Aphasia Test-Hungarian (CAT-H; Zakariás and Lukács, in preparation), an assessment tool newly adapted to Hungarian, currently under standardisation. The test is suitable for the assessment of an acquired language disorder, post-stroke aphasia. The aims of this paper are to present 1) the main characteristics of the test, its areas of application, and the process of the Hungarian adaptation and standardisation, 2) the first results from a sample of Hungarian people with aphasia and healthy controls. Ninety-nine people with aphasia, mostly with unilateral, left hemisphere stroke, and 19 neurologically intact control participants were administered the CAT-H. In addition, we developed a questionnaire assessing demographic and clinical information. The CAT-H consists of two parts, a Cognitive Screening Test and a Language Test. People with aphasia performed significantly worse than the control group in all language and almost all cognitive subtests of the CAT-H. Consistent with our expectations, the control group performed close to ceiling in all subtests, whereas people with aphasia exhibited great individual variability both in the language and the cognitive subtests. In addition, we found that age, time post-onset, and type of stroke were associated with cognitive and linguistic abilities measured by the CAT-H. Our results and our experiences clearly show that the CAT-H provides a comprehensive profile of a person’s impaired and intact language abilities and can be used to monitor language recovery as well as to screen for basic cognitive deficits in aphasia. We hope that the CAT-H will be a unique resource for rehabilitation professionals and aphasia researchers in aphasia assessment and diagnostics in Hungary. ]

Lege Artis Medicinae

[Vaccines against COVID-19 pandemic]

FALUS András, SZEKANECZ Zoltán

[The rapidly spreading SARS-CoV2 respiratory virus has evoked an epidemic with serious aftermath around the world. In addition to the health effects, the global economic damage is actually unpredictable. At the same time, the pandemic has launched a series of unprecedented collaborative scientific research, including the development of vaccines. This study summarizes up-to-date information on vaccines, immune memory, and some emerging clinical effects.]