Should We Prolong the Observation Period for Neurological Recovery After Cardiac Arrest?

OBJECTIVES: To evaluate whether the recommended observation period of 7 days for cardiac arrest survivors is sufficient for conscious recovery and to identify the variables associated with eventual neurologic recovery among patients with delayed awakening. DESIGN: A retrospective cohort study. SETTING: A single tertiary medical center. PATIENTS: Five-hundred twenty-nine nontraumatic adult cardiac arrest survivors with prearrest favorable neurologic function (Cerebral Performance Category 1-2) who survived to hospital discharge during 2011-2019. INTERVENTIONS: The enrolled patients were classified into favorable (Cerebral Performance Category 1-2) and poor (Cerebral Performance Category 3-4) neurologic recovery according to their neurologic function at hospital discharge. Among patients with favorable neurologic recovery, those who recovered within 7 days were assigned to the early recovery group or after 7 days as the late recovery group. MEASUREMENTS AND MAIN RESULTS: There were 395 patients exhibiting favorable neurologic recovery (n = 357 in the early group, n = 38 in late group) and 134 patients exhibiting poor neurologic recovery (poor recovery group). Among patients who remained unconscious on day 7, delayed awakening was associated with male sex (odds ratio [OR], 3.905; 95% CI, 1.153-13.221), prehospital return of spontaneous circulation (OR, 7.628; 95% CI, 2.084-27.922), therapeutic hypothermia (OR, 4.320; 95% CI, 1.624-11.488), and extracorporeal cardiopulmonary resuscitation (OR, 4.508; 95% CI, 1.414-14.371). Being transferred from another hospital, however, was less likely to be associated with delayed awakening (OR, 0.061; 95% CI, 0.009-0.431). The median duration for patients to regain clear consciousness in the late recovery group was 12.12 days. No patient who recovered consciousness had an unfavorable electroencephalography pattern, however, in patients with poor recovery, the 7-day electroencephalography showed 45 patients with generalized suppression (33.6%), two with burst suppression (1.5%), 14 with seizure/epileptic discharge (10.5%), and one with status epilepticus (0.7%). CONCLUSIONS: Up to 9.6% of cardiac arrest patients with favorable outcomes recover consciousness after the recommended 7 days of observation, indicating the observation time of 7 days seems justified but longer duration may be needed. The results of the culturally and clinically isolated population may limit the application to other population.

A prospective cohort study on longitudinal trajectories of cognitive function after stroke.

The study aimed to determine longitudinal trajectories of cognitive function during the first year after stroke. The Montreal Cognitive Assessment (MoCA) was used to screen cognitive function at 36-48 h, 3-months, and 12-months post-stroke. Individuals who shared similar trajectories were classified by applying the group-based trajectory models. Data from 94 patients were included in the analysis. Three cognitive functioning groups were identified by the trajectory models: high [14 patients (15%)], medium [58 (62%)] and low [22 (23%)]. For the high and medium groups, cognitive function improved at 12 months, but this did not occur in the low group. After age, sex and education matching to the normative MoCA from the Swedish population, 52 patients (55%) were found to be cognitively impaired at baseline, and few patients had recovered at 12 months. The impact on memory differs between cognitive functioning groups, whereas the impact on activities of daily living was not different. Patients with the poorest cognitive function did not improve at one-year poststroke and were prone to severe memory problems. These findings may help to increase focus on long-term rehabilitation plans for those patients, and more accurately assess their needs and difficulties experienced in daily living.

Impacts of postoperative changes of segmental mobility on neurological improvement after laminoplasty for cervical ossification of the posterior longitudinal ligament.

ABSTRACT: Several studies have demonstrated that the dynamic factor at the mobile segment affects the severity of myelopathy in patients with cervical ossification of the posterior longitudinal ligament (C-OPLL), and posterior decompression supplemented with posterior instrumented fusion at the mobile segment provides good neurological improvement. However, there have been few reports of changes in range of motion at the mobile segment (segmental ROM) after laminoplasty (LP). The aim of this study was thus to retrospectively investigate changes in segmental ROM after LP and the impacts of these changes on neurological improvement in patients with C-OPLL.A total of 51 consecutive patients who underwent LP for C-OPLL since May 2010 and were followed for at least 2 years after surgery were included in this study. Neurological status was assessed using the Japanese Orthopaedic Association (JOA) score before surgery and at 2-year follow-up. Segmental ROM at the responsible level for myelopathy was measured preoperatively and at 2-year follow-up using lateral flexion-extension radiographs of the cervical spine.The mean JOA score improved significantly from 10.7 points preoperatively to 13.5 points at 2 years after surgery (mean recovery rate, 45.0%). The mean segmental ROM decreased significantly from 6.5 degrees before surgery to 3.2 degrees at 2 years after surgery. In the good clinical outcome group (recovery rate of the JOA score ≥50%; n = 22), the mean segmental ROM decreased significantly from 5.8 degrees preoperatively to 3.0 degrees postoperatively. It also decreased significantly from 7.1 degrees to 3.4 degrees in the poor clinical outcome group (recovery rate of the JOA score <50%; n = 29).This study showed that segmental ROM was stabilized after LP in most patients with C-OPLL. Neither preoperative nor postoperative segmental ROM showed significant differences between the good and poor clinical outcome groups and neither a postoperative increase nor decrease of segmental ROM significantly affected the recovery rate of the JOA score.

Association of Total Sarnat Score with brain injury and neurodevelopmental outcomes after neonatal encephalopathy.

We examined the association of Total Sarnat Score (TSS) with brain injury on neonatal magnetic resonance (MR) and adverse neurodevelopmental outcome (NDO) (death or moderate or severe disability) at 2 years of age in 145 infants undergoing therapeutic hypothermia for neonatal encephalopathy. TSS was associated with basal ganglia/thalamic injury on conventional MR (p=0.03) and thalamic N-acetyl aspartate on MR spectroscopy (R2=0.16, p=0.004) at 2 weeks of age, and Bayley Composite Cognitive (R2=0.18, p=0.01), Motor (R2=0.15, p=0.02) and Language (R2=0.11, p=0.01) Scores at 2 years of age after adjustment for seizures at the time of neurological assessment. The accuracy of TSS (area under the curve (AUC)=0.71) for predicting adverse NDO was similar to the modified Sarnat staging (AUC=0.72). TSS of >12 within 6 hours of birth indicated high risk of adverse NDO, while TSS of <4 indicated intact survival and was reassuring of a good outcome among cooled infants.

Early blood pH as an independent predictor of neurological outcome in patients with out-of-hospital cardiac arrest: A retrospective observational study.

ABSTRACT: Metabolic acidosis is observed in 98% of patients with out-of-hospital cardiac arrest (OHCA). The longer the no-flow or low-flow duration, the more severe is the acidosis in these patients. This study explored whether blood pH in early stages of advanced life support (ALS) was an independent predictor of neurological prognosis in patients with OHCA.We retrospectively enrolled patients with OHCA from January 2012 to June 2018 in a single-medical tertiary hospital in Taiwan. Patients with OHCA whose blood gas analyses within 5 minutes after receiving ALS at the emergency department (ED) were enrolled. Patients younger than 20 years old, with cardiac arrest resulting from traumatic or circumstantial causes, with return of spontaneous circulation (ROSC) before ED arrival, lacking record of initial blood gas analysis, and with do-not-resuscitate orders were excluded. The primary outcome of this study was neurological status at hospital discharge.In total, 2034 patients with OHCA were enrolled. The majority were male (61.89%), and the average age was 67.8 ±â€Š17.0 years. Witnessed OHCA was noted in 571 cases, cardiopulmonary resuscitation was performed before paramedic arrival in 512 (25.2%) cases, and a shockable rhythm was observed in 269 (13.2%). Blood pH from initial blood gas analysis remained an independent predictor of neurological outcome after multivariate regression.Blood pH at early stages of ALS was an independent prognostic factor of post-OHCA neurological outcome. Blood gas analysis on arrival at the ED may provide additional information about the prognosis of patients with OHCA.

Factors associated with hospitalization for ischemic stroke and TIA following an emergency department headache visit.

BACKGROUND: Misdiagnosis of cerebrovascular disease among Emergency Department (ED) patients with headache has been reported. We hypothesized that markers of substandard diagnostic processes would be associated with subsequent ischemic cerebrovascular events among patients discharged from the ED with a headache diagnosis even after adjusting for demographic variables and medical history. METHODS: We conducted a case-control study of adult ED patients diagnosed with a primary headache disorder at Montefiore Medical Center from 9/1/2013-9/1/2018. Cases were defined as patients hospitalized for an ischemic stroke or TIA within 365 days of their index ED visit. Control patients were defined as those who lacked a subsequent hospitalization for cerebrovascular disease. Pre-specified demographic, clinical, and diagnostic process factors were compared between groups; conditional logistic regression was used to assess the separate and joint influence of baseline features on risk of cerebral ischemia. RESULTS: A total of 93 consecutive headache patients with a subsequent ischemic stroke/TIA hospitalization were matched to 93 controls (n = 186). Cases were older than controls and more likely to have traditional cerebrovascular risk factors. Neurological consultation was obtained more often for cases (13% vs. 4%; P = 0.03), cases were in the ED for longer (6 vs. 5 h, P = 0.03), and more frequently received neuroimaging (80% vs. 48%; P < 0.0001). Rates of neurological examination, documented differential diagnoses, and clear discharge follow up plans were similar between cases and controls. In our conditional logistic regression model, only history of prior stroke/TIA was associated with increased odds of subsequent cerebral ischemia. CONCLUSION: Factors associated with diagnostic process failures did not increase the odds of subsequent ischemic stroke/TIA hospitalization following ED headache visit in our study.

Gross motor development of Thai healthy full-term infants aged from birth to 14 months using the Alberta Infant Motor Scale: Inter individual variability.

BACKGROUND: The gross motor percentiles of the Alberta Infants Motor Scale (AIMS) have been commonly referenced in research. Cross-cultural assessment of gross motor development during the first year of life is suggested as diverse child-rearing practices can cause inter-variability. The main aim of this study was to develop an AIMS percentile curve for typically developing home-raised infants in the northeastern part of Thailand. The AIMS scores of these infants were also compared with the standard Canadian norms. METHODS: The gross motor development of 574 full-term infants aged 15 days to 14 months was assessed using the Thai version of the AIMS. Percentile curves of their gross motor ability were developed. The Thai infants' mean AIMS scores were compared with the Canadian norm using the one-sample t-test. RESULTS: The percentile curve of gross motor development of healthy Thai infants showed that mean AIMS scores increased with age. Large inter-variability was present from the 7th to 10th months. The mean AIMS scores of Thai infants were significantly lower than the standard Canadian means during the first three months (P < 0.05), but significantly higher in three age groups: 7-<8 months, 11-<12 months, and 13-14 months. CONCLUSION: The developed percentile curve of gross motor development is applicable for infants from the same demographic and environmental context. According to the study, infants from diverse cultures display a natural inter-variability in gross motor development between the 7th and 10th months.

Neurological involvement in Kawasaki disease: a retrospective study.

BACKGROUND: Kawasaki disease (KD) is an acute, self-limiting systemic vasculitis that predominately affects children. Neurological involvement is a known complication of KD, however, its association with KD severity remains elusive. We aimed to systematically describe the general manifestations of neurological involvement in KD, determine whether neurological involvement is a marker of disease severity in patients with KD, and assess the relationship of such involvement with intravenous immunoglobulin (IVIG) resistance and coronary artery lesions (CALs). METHODS: We retrospectively reviewed data from 1582 patients with KD between January 2013 and December 2017. Profiles of patients with neurological symptoms (group A, n = 80) were compared to those of gender- and admission date-matched patients without neurological involvement (group B, n = 512). Multivariate logistic regression analyses were performed to determine whether neurological involvement was significantly associated with IVIG resistance. RESULTS: Neurological involvement was observed in 5.1% (80/1582) of patients with KD. The neurological manifestations were diffuse, presenting as headache (13/80, 16.3%), convulsions (14/80, 17.5%), somnolence (40/80, 50.1%), extreme irritability (21/80, 26.3%), signs of meningeal irritation (15/80, 18.8%), bulging fontanelles (7/80, 8.8%), and facial palsy (1/80, 1.3%). Neurological symptoms represented the initial and/or predominant manifestation in 47.5% (38/80) of patients with KD. The incidence of IVIG resistance and levels of inflammatory markers were higher in group A than in group B. However, neurological involvement was not an independent risk factor for IVIG resistance or CALs. CONCLUSION: Rates of neurological involvement were relatively low in patients with KD. Neurological involvement was associated with an increased risk of IVIG resistance and severe inflammatory burden. Our results highlight the need for pediatricians to recognize KD with neurological involvement and the importance of standard IVIG therapy. TRIAL REGISTRATION: Retrospectively registered.

Assessment of the cutaneous trunci muscle reflex in neurologically abnormal cats.

OBJECTIVES: The aim of this study was to evaluate the presence of the cutaneous trunci reflex (CTR) in a population of neurologically abnormal cats in regard to age, body condition score (BCS), sex, breed, evidence of traumatic injury, pain, known metabolic disease, mentation, neurolocalization and diagnostic classification. METHODS: A retrospective medical record review was performed to identify cats with a history of neurologic disease undergoing a complete neurologic assessment between 24 September 2012 and 20 March 2019. CTR outcome (present, absent), signalment, evidence of traumatic injury, pain, known metabolic disease, mentation, neurolocalization and diagnostic classification were recorded. RESULTS: A total of 182 cats were identified. The CTR was present in 118 cats (64.8%) and absent in 64 cats (35.2%). Statistical analysis revealed no association between CTR outcome and age, BCS, sex, breed, evidence of traumatic injury, non-spinal pain, known metabolic disease, mentation, neurolocalization or diagnostic classification. A significant association was found between spinal pain and CTR outcome (P = 0.037). CONCLUSIONS AND RELEVANCE: These findings suggest that elicitation of the CTR in the cat can be unreliable. Further prospective controlled studies are warranted to determine whether continued inclusion of the CTR in feline neurologic examinations is justified. Consideration of the reliability of the CTR is indicated, particularly in the context of fractious or anxious patients for which only a limited window for examination may be present.

Training needs analysis of Korean nurses' neurological assessment competency.

Despite the importance of neurological assessment, there is a lack of research directed at nurses' competency in performing these assessments. We aimed to identify nurses' competency levels in performing neurological assessments and prioritize their related training needs using importance-performance analysis. This survey research was conducted and reported based on the enhancing the quality and transparency of health research (EQUATOR) guidelines. A total of 213 nurses participated in a descriptive, cross-sectional survey study. Exploratory factor analysis identified seven factors that together accounted for 70.34% of the variance: cerebral function, signs and symptoms, pathologic reflexes, motor strength, assessment of an unconscious patient, reporting and documentation, and neurological assessment scales. [Correction added on 10 February 2020, after first online publication: the value of the variance has been corrected from '7.34%' to '70.34%' in the preceding sentence.] There were significant gaps between importance and performance for all seven factors. The importance-performance matrix identified the neurological assessment scales factor as a high priority for continuing education. Emergency department nurses reported lower neurological assessment competency when compared with ward and intensive care unit nurses. The analysis of training needs is beneficial for developing programs to enhance neurological assessment competency. Training in neurological assessment scales is a priority for nurses, and they prefer simulation- and practicum-based methods.

Early Clinical Features of Cerebral Palsy in Children Without Perinatal Risk Factors: A Scoping Review.

BACKGROUND: The early identification of cerebral palsy (CP) in the primary care context is often problematic and referral for diagnosis often delayed. This study aimed to identify clinical features associated with the early detection of CP that can be used by the primary care provider. METHODS: We performed a scoping review by searching six electronic databases. We included English language articles that addressed the diagnosis of CP and/or its differential diagnosis in children and ways of detecting CP before the diagnosis is established (i.e., early clinical signs of CP) via (1) questions on the patient's clinical history, (2) developmental screening and/or health questionnaires, or (3) physical or neurological examination. RESULTS: Included studies (n = 41; 27 overview studies and 14 original studies) were grouped into the three themes. Most of the overview articles relied on expert opinion, and all original studies included patients at high risk of developing CP. The most commonly identified features from each theme were early hand preference on clinical history, delayed or absent achievement of motor developmental milestones on developmental screening, and persistent primitive reflexes on neurological examination. CONCLUSIONS: Overall, the literature on the early observable clinical signs that should prompt referral for investigation of possible CP in the specific context of well-baby care surveillance was sparse and inconsistent. Further research should focus on evaluating the contribution of readily identifiable clinical features.

Determination of Imminent Brain Death Using the Full Outline of Unresponsiveness Score and the Glasgow Coma Scale: A Prospective, Multicenter, Pilot Feasibility Study.

PURPOSE: To evaluate the accuracy of the imminent brain death (IBD) diagnosis in predicting brain death (BD) by daily assessment of the Full Outline of Unresponsiveness (FOUR) score and the Glasgow Coma Scale (GCS) with the assessment of brain stem reflexes. MATERIALS AND METHODS: Prospective multicenter pilot study carried out in 5 adult Italian intensive care units (ICUs). Imminent brain death was established when the FOUR score was 0 (IBD-FOUR) or the GCS score was 3 and at least 3 among pupillary light, corneal, pharyngeal, carinal, oculovestibular, and trigeminal reflexes were absent (IBD-GCS). RESULTS: A total of 219 neurologic evaluations were performed in 40 patients with deep coma at ICU admission (median GCS 3). Twenty-six had a diagnosis of IBD-FOUR, 27 of IBD-GCS, 14 were declared BD, and 9 were organ donors. The mean interval between IBD diagnosis and BD was 1.7 days (standard deviation [SD] 2.0 days) using IBD-FOUR and 2.0 days (SD 1.96 days) using IBD-GCS. Both FOUR and GCS had 100% sensitivity and low specificity (FOUR: 53.8%; GCS: 50.0%) in predicting BD. CONCLUSIONS: Daily IBD evaluation in the ICU is feasible using FOUR and GCS with the assessment of brain stem reflexes. Both scales had 100% sensitivity in predicting IBD, but FOUR may be preferable since it incorporates the pupillary, corneal, and cough reflexes and spontaneous breathing that are easily assessed in the ICU.

Functional outcomes associated with varying levels of targeted temperature management after out-of-hospital cardiac arrest - An INTCAR2 registry analysis.

INTRODUCTION: Targeted temperature management (TTM) after out-of-hospital cardiac arrest (OHCA) has been recommended in international guidelines since 2005. The TTM-trial published in 2013 showed no difference in survival or neurological outcome for patients randomised to 33 °C or 36 °C, and many hospitals have changed practice. The optimal utilization of TTM is still debated. This study aimed to analyse if a difference in temperature goal was associated with outcome in an unselected international registry population. METHODS: This is a retrospective observational study based on a prospective registry - the International Cardiac Arrest Registry 2. Patients were categorized as receiving TTM in the lower range at 32-34 °C (TTM-low) or at 35-37 °C (TTM-high). Primary outcome was good functional status defined as cerebral performance category (CPC) of 1-2 at hospital discharge and secondary outcome was adverse events related to TTM. A logistic regression model was created to evaluate the independent effect of temperature by correcting for clinical and demographic factors associated with outcome. RESULTS: Of 1710 patients included, 1242 (72,6%) received TTM-low and 468 (27,4%) TTM-high. In patients receiving TTM-low, 31.3% survived with good outcome compared to 28.8% in the TTM-high group. There was no significant association between temperature and outcome (p = 0.352). In analyses adjusted for baseline differences the OR for a good outcome with TTM-low was 1.27, 95% CI (0.94-1.73). Haemodynamic instability leading to discontinuation of TTM was more common in TTM-low. CONCLUSIONS: No significant difference in functional outcome at hospital discharge was found in patients receiving lower- versus higher targeted temperature management.

A Phase 2 Study of Post-Operative Stereotactic Body Radiation Therapy (SBRT) for Solid Tumor Spine Metastases.

PURPOSE: In patients with spinal instability, cord compression, or neurologic deficits, the standard of care is surgery followed by radiation therapy (RT). Recurrence rates after conventional RT remain high. The purpose of this study is to prospectively examine the efficacy of postoperative stereotactic body RT (SBRT) in patients who have undergone surgical intervention for spine metastases. We hypothesize that postoperative SBRT to the spine would be associated with higher local control than historical rates after conventional RT. METHODS AND MATERIALS: Thirty-five adult patients with a Karnofsky Performance Status score ≥40 and spine metastases from solid tumors with no prior overlapping RT and target volumes ≤3 consecutive vertebral levels were enrolled. Thirty-three patients were treated. Two patients underwent treatment to 2 target volumes for a total of 35 target volumes. All patients received SBRT 30 Gy in 5 fractions. Patients were followed with neurological examinations and computed tomography and/or magnetic resonance imaging every 3 months. Neurologic function was assessed at the same time points using the American Spinal Injury Association (ASIA) impairment score. Pain was rated according to the 10-point visual analogue scale and MD Anderson Cancer Center brief pain index. Toxicity was recorded according to National Cancer Institute Common Toxicity Criteria for Adverse Events Version 4. The primary objective was the rate of radiographic local recurrence at 12 months after completion of SBRT. RESULTS: Patient characteristics were as follows: 34.3% had radioresistant primaries; 71.4% were ASIA E and the remainder ASIA D; and the median baseline Karnofsky Performance Status score was 70 (range, 50-100). Radiographic and symptomatic local control at 1 year were 90% (95% confidence interval, 76%-98%). The median time to recurrence in these 3 patients was 3.5 months (range, 3.4-5.8 months), all had radiosensitive tumors, and all recurrences were epidural. No patients experienced wound dehiscence, hardware failure, or spinal cord myelopathy. The median time to return to systemic therapy was 0.5 months (range, 0-9.4 months). CONCLUSIONS: This prospective study of postoperative spine SBRT demonstrates excellent local control with low toxicity. These data suggest superior rates of local control compared with conventional RT; however, a formal comparative study is warranted.

Dementia assessment and management in primary care settings: a survey of current provider practices in the United States.

BACKGROUND: Primary care providers (PCPs) are typically the first to screen and evaluate patients for neurocognitive disorders (NCDs), including mild cognitive impairment and dementia. However, data on PCP attitudes and evaluation and management practices are sparse. Our objective was to quantify perspectives and behaviors of PCPs and neurologists with respect to NCD evaluation and management. METHODS: A cross-sectional survey with 150 PCPs and 50 neurologists in the United States who evaluated more than 10 patients over age 55 per month. The 51-item survey assessed clinical practice characteristics, and confidence, perceived barriers, and typical practices when diagnosing and managing patients with NCDs. RESULTS: PCPs and neurologists reported similar confidence and approaches to general medical care and laboratory testing. Though over half of PCPs performed cognitive screening or referred patients for cognitive testing in over 50% of their patients, only 20% reported high confidence in interpreting results of cognitive tests. PCPs were more likely to order CT scans than MRIs, and only 14% of PCPs reported high confidence interpreting brain imaging findings, compared to 70% of specialists. Only 21% of PCPs were highly confident that they correctly recognized when a patient had an NCD, and only 13% were highly confident in making a specific NCD diagnosis (compared to 72 and 44% for neurologists, both p < 0.001). A quarter of all providers identified lack of familiarity with diagnostic criteria for NCD syndromes as a barrier to clinical practice. CONCLUSIONS: This study demonstrates how PCPs approach diagnosis and management of patients with NCDs, and identified areas for improvement in regards to cognitive testing and neuroimaging. This study also identified all providers' lack of familiarity with published diagnostic criteria for NCD syndromes. These findings may inform the development of new policies and interventions to help providers improve the efficacy of their decision processes and deliver better quality care to patients with NCDs.

Clinician-rated measures for distal symmetrical axonal polyneuropathy: ACTTION systematic review.

Distal symmetrical axonal polyneuropathy (DSP) is due to injury to peripheral sensory, motor, and autonomic nerve fibers, resulting in distal predominant sensory loss, pain, and gait instability. DSP occurs as a complication of multiple medical conditions including diabetes or HIV, or following exposure to various toxins such as chemotherapy. It affects at least 10% of the United States population. Few treatments for DSP are approved by regulatory agencies. Reliable and responsive outcome measures are integral to developing new DSP treatments. Multiple clinician-rated measures that incorporate neuropathy signs exist, however, it is not clear which of these measures performs best for various DSP phenotypes. This systematic review summarizes the content of 18 published measures of DSP identified using PubMed and from personal archives of the authors. The relative percentage of scoring dedicated to motor, reflex, large and small fiber sensory, and autonomic domains varied considerably among measures. The most common neurologic examination items included in the scales were (1) vibration perception (n = 18, 100%), (2) reflexes (n = 16, 89%), (3) pinprick perception (n = 14, 78%), (4) muscle strength (n = 11, 61%), (5) touch-pressure perception (n = 9, 50%), and (6) joint position perception (n = 8, 44%). This review can be used to inform decisions regarding which of the available clinician-rated sign outcome measures would be most appropriate for use in a particular DSP population, based on the domains most affected by that neuropathy or on the domains most likely to be affected by a particular experimental therapy.

Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal.

INTRODUCTION: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington's disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of this study was to describe the profile of the population seeking pre-symptomatic testing, while also reflecting on the experience of conducting the protocol of multidisciplinary sessions since 1996. MATERIAL AND METHODS: We conducted a retrospective study and collected data from clinical records of consultands who requested pre-symptomatic testing at our centre in Porto (Portugal) during the first twenty years of practice (1996 - 2015). RESULTS: A total of 1446 records were reviewed. The most common reason for testing was to reduce uncertainty (41.7%). The rate of withdrawals before results disclosure was lower (16%) than reported in other international experiences with pre-symptomatic testing, while 45% of the consultands dropped out the protocol after learning the test results (73.5% of them were non-carriers). As far as the mutation carriers were concerned, 29.6% adhered to the protocol a year after test disclosure. Consultands that had learned about presymptomatic testing through healthcare professionals tended to adhere more to pre-symptomatic testing consultations. DISCUSSION: The profile of Portuguese consultands at risk for late-onset neurological diseases is similar to those reported in other international programs. The largest group in this data set was the one comprising the subjects at risk for familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene, and it is likely that therapeutic options for this condition may have influenced this result. Adherence to pre-symptomatic testing may change in the future since effective therapies are available (or given the fact that people think effective treatments are imminent). CONCLUSION: This study reflects the first comprehensive description of a Portuguese experience with pre-symptomatic testing for late onset neurological diseases. The development of innovative approaches to improve the consultands' experience with pre-symptomatic testing and their engagement in genetic departments is still a challenge in Portuguese genetics healthcare departments. A better coordination among primary care and genetics healthcare services is needed.

Introdução: Em 1995 foi iniciado em Portugal um protocolo nacional para o aconselhamento genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi disponibilizado para indivíduos adultos em risco para a doença de Machado-Joseph e posteriormente estendido a outras ataxias hereditárias, doença de Huntington e polineuropatia amiloidótica familiar ATTR Val30Met. O objetivo deste estudo é descrever o perfil dos consultandos envolvidos no teste pré-sintomático desde 1996, e refletir no protocolo de sessões multidisciplinares. Material e Métodos: Realizámos um estudo retrospetivo com recolha de dados dos processos clínicos dos utentes que solicitaram teste pré-sintomático ao longo dos primeiros 20 anos do Centro de Genética Preditiva e Preventiva (1996 - 2015), localizado no Porto, Portugal. Resultados: Analisámos um total de 1446 processos clínicos; a principal motivação para a realização do teste pré-sintomático foi o alívio da incerteza (41,7%). A taxa de abandono do protocolo antes da comunicação dos resultados do pré-sintomático (16% dos casos) foi mais baixa do que em outras experiências internacionais; 45% dos consultandos abandonaram o protocolo depois de saberem o resultado do teste pré-sintomático (73,5% dos quais eram não-portadores). 29,6% de consultandos portadores continuaram envolvidos no protocolo um ano após saberem o resultado do teste pré-sintomático. Os consultandos encaminhados para o protocolo através de outros profissionais de saúde revelaram maior adesão ao protocolo. Discussão: O perfil sociodemográfico dos consultandos no Centro de Genética Preditiva e Preventiva é similar ao reportado noutras experiências internacionais. Os consultandos em risco para polineuropatia amiloidótica familiar ATTR Val30Met representaram o maior grupo nos nossos dados, sendo provável que as opções terapêuticas disponíveis para esta doença tenham influenciado este resultado. A adesão ao teste pré-sintomático poderá alterar-se no futuro quando terapias eficazes estiverem disponíveis (ou as pessoas as percepcionem como estando iminentes). Conclusão: Este trabalho constitui a descrição mais completa até ao momento publicada acerca da realização de teste pré-sintomático em Portugal. O desenvolvimento de abordagens com vista à melhoria da experiência dos consultandos com os testes pré-sintomáticos e ao seu envolvimento nos serviços de genética é um desafio atual, assim como a melhor articulação dos mesmos com os cuidados de saúde primários.

Learning effect of dynamic postural stability evaluation system.

BACKGROUND: Repeated exposure to a given perturbation of the postural control system has been shown to cause learning of more efficient postural strategies for maintaining balance both within a session and over time. It is important to show whether outcomes from treatment strategies are related to the effectiveness of training or are the result of the learning of the test process. OBJECTIVE: To investigate the learning effect of the dynamic postural stability evaluation system. METHODS: We studied 20 healthy young subjects (13 females and 7 males), with a mean age of 22.3 ± 1.9 years. Limits of stability and postural sway were assessed. All participants completed the standardized dynamic postural stability evaluation test (Bertec, Bertec Corporation, Columbus, OH, USA) seven times. The test was performed in both eyes open and eyes closed conditions. RESULTS: There were differences in the limits of stability scores for backward (p= 0.042), left side (p= 0.05), and the total score (p= 0.04). There were significant differences in postural sway anteroposterior direction in perturbed surface with eyes closed condition (p= 0.004) and total limits of stability scores of perturbed surface with eyes closed condition (p= 0.046). CONCLUSIONS: The study showed that balance test scores stabilized at different sessions from 1st to 3rd assessment period. Maximum normalized scores were reached at the third trial.

Characterisation of neonatal seizures and their treatment using continuous EEG monitoring: a multicentre experience.

OBJECTIVE: The aim of this multicentre study was to describe detailed characteristics of electrographic seizures in a cohort of neonates monitored with multichannel continuous electroencephalography (cEEG) in 6 European centres. METHODS: Neonates of at least 36 weeks of gestation who required cEEG monitoring for clinical concerns were eligible, and were enrolled prospectively over 2 years from June 2013. Additional retrospective data were available from two centres for January 2011 to February 2014. Clinical data and EEGs were reviewed by expert neurophysiologists through a central server. RESULTS: Of 214 neonates who had recordings suitable for analysis, EEG seizures were confirmed in 75 (35%). The most common cause was hypoxic-ischaemic encephalopathy (44/75, 59%), followed by metabolic/genetic disorders (16/75, 21%) and stroke (10/75, 13%). The median number of seizures was 24 (IQR 9-51), and the median maximum hourly seizure burden in minutes per hour (MSB) was 21 min (IQR 11-32), with 21 (28%) having status epilepticus defined as MSB>30 min/hour. MSB developed later in neonates with a metabolic/genetic disorder. Over half (112/214, 52%) of the neonates were given at least one antiepileptic drug (AED) and both overtreatment and undertreatment was evident. When EEG monitoring was ongoing, 27 neonates (19%) with no electrographic seizures received AEDs. Fourteen neonates (19%) who did have electrographic seizures during cEEG monitoring did not receive an AED. CONCLUSIONS: Our results show that even with access to cEEG monitoring, neonatal seizures are frequent, difficult to recognise and difficult to treat. OBERSERVATION STUDY NUMBER: NCT02160171.