Clinical Presentation and Stroke Incidence Differ by Moyamoya Etiology

2020 ◽  
pp. 088307382096716
Author(s):  
John R. Gatti ◽  
Adriana Gonzalez Torriente ◽  
Lisa R. Sun
Keyword(s):  
Radiation Therapy ◽  
Down Syndrome ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Clinical Presentation ◽  
Cell Disease ◽  
Stroke Incidence ◽  
Radiographic Findings ◽  
Cranial Radiation

Introduction: Moyamoya arteriopathy, which can be idiopathic or associated with sickle cell disease, neurofibromatosis, Down syndrome, or cranial radiation therapy, is a progressive cerebral arteriopathy associated with high rates of incident and recurrent stroke. Little is known about how these subgroups differ with respect to clinical presentation, radiographic findings, stroke risk, and functional outcomes. Methods: Using ICD codes, we identified children ages 28 days to 18 years treated for moyamoya arteriopathy at our tertiary care center between 2003 and 2019. Demographic, clinical, and radiographic data were extracted from the medical record. The Pediatric Stroke Recurrence and Recovery Questionnaire was administered to consenting participants. Results: Sixty-nine patients met inclusion criteria (33 idiopathic, 18 sickle cell disease, 11 neurofibromatosis, 6 Down syndrome, 1 cranial radiation therapy). Median follow-up time was 7.7 years; 24 patients had at least 5 years of follow-up data. Frequency of stroke at presentation differed by subgroup ( P < .001). Of patients with at least 2 years of follow-up, 33 (55%) experienced stroke. The proportion of patients experiencing stroke differed by subgroup (50% of idiopathic cases, 72% of sickle cell disease, 11% of neurofibromatosis, and 100% of Down syndrome, P = .003). The frequency of bilateral versus unilateral disease ( P = .001) and stroke-free survival following presentation ( P = .01) also differed by subgroup. Conclusions: In this single-center cohort, moyamoya subgroups differed with respect to clinical and radiographic characteristics, with neurofibromatosis-associated moyamoya syndrome having a milder phenotype and Down syndrome–associated moyamoya portending a more aggressive course. These findings need confirmation in a larger, multi-center cohort with longer duration of follow-up.

Declining stroke rates in Californian children with sickle cell disease

Blood ◽  
2004 ◽  
Vol 104 (2) ◽  
pp. 336-339 ◽  
Author(s):  
Heather J. Fullerton ◽  
Robert J. Adams ◽  
Shoujun Zhao ◽  
S. Claiborne Johnston
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Stroke Prevention ◽  
Incidence Rates ◽  
Cell Disease ◽  
Stroke Incidence ◽  
The Impact ◽  
Discharge Database ◽  
High Risk Children

Abstract Although the Stroke Prevention Trial in Sickle Cell Anemia (STOP) demonstrated the efficacy of blood transfusions for primary stroke prevention in high-risk children with sickle cell disease (SCD) in 1998, the impact of this trial on public health has not been studied. Our objective was to determine whether stroke rates in Californian children with SCD have declined since 1998. Using a California-wide hospital discharge database, we identified all first admissions for stroke in children with SCD from 1991 through 2000. Annual stroke incidence rates were calculated as the number of admissions divided by the estimated population of Californian children with SCD in that year. For 1991-2000, 93 children with SCD were admitted to Californian hospitals with a first stroke during 12 030 person-years of follow-up; 92.5% were ischemic and 7.5% hemorrhagic. Overall, the rate of first stroke was 0.77/100 person-years. For the study years 1991-1998, the rate for first stroke was 0.88/100 person-years compared to 0.50 in 1999 and 0.17 in 2000 (P &lt; .005 for trend). Since the publication of the STOP study in 1998, annual rates of admissions for first stroke for Californian children with SCD have declined. (Blood. 2004;104:336-339)

scholarly journals Variability of Prognostic Results Based on Biological Parameters in Sickle Cell Disease Cohort Studies in Children: What Should Clinicians Know?

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 143
Author(s):  
Julie Sommet ◽  
Enora Le Roux ◽  
Bérengère Koehl ◽  
Zinedine Haouari ◽  
Damir Mohamed ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Sickle Cell Disease ◽  
Cohort Studies ◽  
Statistical Methods ◽  
Sickle Cell ◽  
Biological Parameters ◽  
Analysis Method ◽  
Cell Disease ◽  
Statistical Analysis Method

Background: Many pediatric studies describe the association between biological parameters (BP) and severity of sickle cell disease (SCD) using different methods to collect or to analyze BP. This article assesses the methods used for collection and subsequent statistical analysis of BP, and how these impact prognostic results in SCD children cohort studies. Methods: Firstly, we identified the collection and statistical methods used in published SCD cohort studies. Secondly, these methods were applied to our cohort of 375 SCD children, to evaluate the association of BP with cerebral vasculopathy (CV). Results: In 16 cohort studies, BP were collected either once or several times during follow-up. The identified methods in the statistical analysis were: (1) one baseline value per patient (2) last known value; (3) mean of all values; (4) modelling of all values in a two-stage approach. Applying these four different statistical methods to our cohort, the results and interpretation of the association between BP and CV were different depending on the method used. Conclusion: The BP prognostic value depends on the chosen statistical analysis method. Appropriate statistical analyses of prognostic factors in cohort studies should be considered and should enable valuable and reproducible conclusions.

scholarly journals Analysis of clinical presentation, hematological factors, self-reported bed net usage, and malaria burden in sickle cell disease patients

2021 ◽  
Vol 39 ◽  
pp. 101045
Author(s):  
Keri Oxendine Harp ◽  
Felix Botchway ◽  
Yvonne Dei-Adomakoh ◽  
Michael D. Wilson ◽  
Mohamed Mubasher ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Clinical Presentation ◽  
Bed Net ◽  
Cell Disease ◽  
Malaria Burden

scholarly journals Neuropathic Pain in Children with Sickle Cell Disease: The Hidden Side of the Vaso-Occlusive Crisis

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 84
Author(s):  
Jeanne Sigalla ◽  
Nathalie Duparc Alegria ◽  
Enora Le Roux ◽  
Artemis Toumazi ◽  
Anne-Françoise Thiollier ◽  
...  
Keyword(s):  
Risk Factors ◽  
Neuropathic Pain ◽  
Sickle Cell Disease ◽  
Sex Ratio ◽  
Prospective Study ◽  
Sickle Cell ◽  
Clinical Presentation ◽  
Early Stage ◽  
Cell Disease ◽  
A Prospective Study

The majority of hospitalizations of patients with sickle cell disease (SCD) are related to painful vaso-occlusive crises (VOCs). Although the pain of VOC is classically nociceptive, neuropathic pain (NP) has also been demonstrated in SCD patients. The aim of our study is to specify the prevalence of NP during VOCs in SCD children using a dedicated scale and to measure its characteristics. We performed a prospective study that included SCD children hospitalized for an acute VOC. The presence of NP was sought with the DN4 scale on the second and fourth days of hospitalization. A total of 54 SCD children were included in the study. Overall, 41% of the patients (n = 22) experienced neuropathic pain during the VOC, mostly at an early stage (Day 2). The median age, the sex ratio, the location of the pain, and the morphine consumption were similar for patients with and without NP. Our study shows that neuropathic pain is very common during VOCs in SCD children. The absence of identified risk factors should prompt us to be vigilant regardless of the patient’s age, sex, and clinical presentation.

scholarly journals Implementation of an Educational Intervention to Optimize Self-Management and Transition Readiness in Adolescents with Sickle Cell Disease

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3536-3536
Author(s):  
Cecelia Calhoun ◽  
Regina Abel ◽  
Hai Anh Pham ◽  
Shomari Thompson ◽  
Allison A King
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Psychosocial Development ◽  
Sexual Development ◽  
Independent Living ◽  
Self Management ◽  
Cell Disease ◽  
Adult Care ◽  
Transition Readiness

Abstract Background: The transition from the pediatric setting to adult care is a challenge for many adolescents with chronic disease. Patients with sickle cell disease (SCD) represent a unique cohort as the timing of psychosocial development of adolescence often coincides with worsening end organ damage. Previously, we used the Adolescent Autonomy Checklist (AAC) modified to include SCD specific tasks that patients with SCD need to practice in order to transition to adult healthcare and independent living. This study sought to use the AAC to measure the effects of skill based educational handouts on improving self-management and transition readiness in adolescents with SCD. Methods: This was a single center, retrospective study approved by the Washington University Institutional Review Board. Inclusion criteria were patients with SCD, age 13-21 years, and completion of pre and post assessments. As standard care, patients from a pediatric hematology clinic completed the AAC-SCD. The AAC-SCD assesses skill level in twelve domains (Table). The tool includes 100 items, and users check "can do already" or "needs practice" for each item. After review with the coordinator, participants were given skill-based handouts based on up to five noted deficits. Patients completed the AAC-SCD at the subsequent clinic visit. In addition to baseline and follow up AAC-SCD data, medical and demographic data were collected via chart abstraction. All data were entered into SPSS for statistical analysis, including descriptives, paired sample T-tests, and bivariate Pearson's correlations. Results: A total of 61 patients completed baseline and follow up. Of those participants, 49.2% were female. The mean age was 15.4 (+ 2.2) years. The genotypic distribution was as follows: 67.2% HbSS, 19.7% HbSC, 3.3% HbS-beta-thal+ and 9.8% HbS-beta-thal0. The majority of patients received healthcare coverage via Medicaid (52.5%), private insurance (45.6%) and 1.6% had no insurance coverage. Twenty-five patients (42.0 %) had a history of stroke or silent cerebral infarct and 34 (55.7%) were currently taking or were previously prescribed hydroxyurea. Formal academic support (IEP or 504 Plan) was reported for 20 (32.8%) of patients. At baseline, patients needed the most help with skills in the kitchen, housekeeping, personal care and leisure. Statistically significant improvements (p< 0.05) occurred in skills related to laundry, housekeeping, healthcare, sexual development and living arrangements. Modest sized and statistically significant correlation between the receipt of the educational handouts and decreased number of items marked "needs help" occurred in the areas of money management (r=-0.27, p=0.044), vocational skills (r=-0.27, p=0.046;) and laundry (r=0.32, p=0.015). A post hoc analysis by age groups 13-15 (n= 34),16-18 (n=24) and 19-21 (n=3) showed a decreased amount of items marked "needs help" in the areas of sexual development for both 13-15 year olds (r=0.42, p=0.024) and 16-18 year olds (r=0.93, p=0.001) as well. Conclusion: Transition skills improved over time among adolescents with SCD. While we cannot say for certain if gains in knowledge occur with age as development progresses or if a formal transition program can be credited, providing educational materials on transition related skills within a clinic setting was associated with significant improvements in three of the domains. Our preliminary data offers insight into what skill deficits may be most amenable to educational interventions based on age group. As is the case with medical management, the development of a multimodal intervention is needed to prepare adolescents with SCD to transition to adult care and independent living. Clinic based education is a simple intervention that could be one component of future approaches to transition. Disclosures No relevant conflicts of interest to declare.

scholarly journals Ischemic Stroke in Children and Young Adults with Sickle Cell Disease (SCD) in the Post-STOP Era

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 68-68 ◽  
Author(s):  
Janet L. Kwiatkowski ◽  
Julie Kanter ◽  
Heather J. Fullerton ◽  
Jenifer Voeks ◽  
Ellen Debenham ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
High Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Stroke Prevention ◽  
Cell Disease ◽  
Clinical Series ◽  
The Mean

Abstract Background: The Stroke Prevention Trial in Sickle Cell Anemia (STOP) and Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) established routine transcranial Doppler ultrasound (TCD) screening with indefinite chronic red cell transfusions (CRCT) for children with abnormal TCD as standard of care. To identify children at high-risk of stroke, annual TCD screening is recommended from ages 2 to 16 years, with more frequent monitoring if the result is not normal. A reduction in stroke incidence in children with SCD has been reported in several clinical series and analyses utilizing large hospital databases when comparing rates before and after the publication of the STOP study in 1998. We sought to determine the rate of first ischemic stroke in a multicenter cohort of children who had previously participated in the STOP and/or STOP 2 trials and to determine whether these strokes were screening or treatment failures. Subjects and Methods: Between 1995 and 2005, STOP and STOP 2 (STOP/2) were conducted at 26 sites in the US and Canada. These studies included 3,835 children, ages 2 to 16 y with SCD type SS or S-beta-0-thalassemia. Participation in STOP/2 ranged from a single screening TCD to randomization. STOP 2 also had an observational arm for children on CRCT for abnormal TCD whose TCD had not reverted to normal. The Post-STOP study was designed to follow-up the outcomes of children who participated in one or both trials. 19 of the 26 original study sites participated in Post-STOP, contributing a total of 3,539 (92%) of the STOP/2 subjects. After exit from STOP/2, these children received TCD screening and treatment according to local practices. Data abstractors visited each clinical site and obtained retrospective data from STOP/2 study exit to 2012-2014 (depending on site) including follow-up TCD and brain imaging results, clinical information, and laboratory results. Two vascular neurologists, blinded to STOP/2 status and prior TCD and neuroimaging results, reviewed source records to confirm all ischemic strokes, defined as a symptomatic cerebral infarction; discordant opinions were resolved through discussion. For the first Post-STOP ischemic stroke, prior TCD result and treatment history subsequently were analyzed. Results: Of the 3,539 subjects, follow-up data were available for 2,850 (81%). Twelve children who had a stroke during STOP or STOP2 were excluded from these analyses resulting in data on 2,838 subjects. The mean age at the start of Post-STOP was 10.5 y and mean duration of follow-up after exiting STOP/2 was 9.1 y. A total of 69 first ischemic strokes occurred in the Post-STOP observation period (incidence 0.27 per 100 pt years). The mean age at time of stroke was 14.4±6.2 (median 13.8, range 3.5-28.9) y. Twenty-five of the 69 patients (36%) had documented abnormal TCD (STOP/2 or Post-STOP) prior to the stroke; 15 (60%) were receiving CRCT and 9 (36%) were not (treatment data not available for 1 subject). Among the 44 subjects without documented abnormal TCD, 29 (66%) had not had TCD re-screen in the Post-STOP period prior to the event; 7 of these 29 (24%) were 16 y or older at the start of Post-STOP, which is beyond the recommended screening age. Four of the 44 (9%) patients had inadequate TCD in Post-STOP (1 to 10.7 y prior to event). Six (14%) had normal TCD more than a year before the event (1.2 - 4 y); all but one of these children were younger than 16 y at the time of that TCD. Only 5 (11%) had a documented normal TCD less than 1 year prior to the event. Conclusions: In the Post-STOP era, the rate of first ischemic stroke was substantially lower than that reported in the Cooperative Study of Sickle Cell Disease, prior to implementation of TCD screening. Many (39%) of the Post-STOP ischemic strokes were associated with a failure to re-screen according to current guidelines, while only 11% occurred in children who had had recent low-risk TCD. Among those known to be at high risk prior to stroke, treatment refusal or inadequate treatment may have contributed. While TCD screening and treatment are effective at reducing ischemic stroke in clinical practice, significant gaps in screening and treatment, even at sites experienced in the STOP protocol, remain to be addressed. Closing these gaps should provide yet further reduction of ischemic stroke in SCD. Disclosures No relevant conflicts of interest to declare.

scholarly journals Case Report: Acute Stroke in Young Adult Patient with Moyamoya Syndrome Secondary to Sickle Cell Disease

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 13-13
Author(s):  
Oladipo Cole ◽  
Asia Filatov ◽  
Javed Khanni ◽  
Patricio Espinosa
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Moyamoya Disease ◽  
Conflicts Of Interest ◽  
Acute Chest Syndrome ◽  
African American Female ◽  
Moyamoya Syndrome ◽  
Cell Disease ◽  
Radiographic Findings

Moyamoya disease, well described in literature, is a chronic cerebrovascular occlusive disorder. It is characterized by progressive stenosis/occlusion of the terminal portions of the internal carotid arteries (ICA) and the proximal portions of the middle cerebral arteries (MCA). Less frequently described is Moyamoya syndrome, the name given to radiographic findings consistent with Moyamoya disease, but with an identifiable cause. The diseases associated with Moyamoya Syndrome include Sickle Cell Disease (SCD), Thalassemias, and Down's Syndrome to name a few. Common complications of Moyamoya include both ischemic and hemorrhagic strokes. Upon literature review, Moyamoya syndrome caused by SCD is not well described. When it is, the discussion is centered around the pediatric patient population and surgical management. Our case report describes a 22-year-old African American female with SCD who initially presented with Acute Chest Syndrome. Her hospital course was complicated by development of overt debilitating neurologic deficits. Subsequently, she was found to have Moyamoya Syndrome on neuroimaging. She was successfully treated with medical management without any surgical intervention. This case highlights the necessity of thorough examination, differential diagnosis, imaging findings, and consideration of predisposing syndromes in the work-up for Moyamoya syndrome; especially individuals with Sickle Cell Disease. Disclosures No relevant conflicts of interest to declare.

Perspective From the American Academy of Pediatrics

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 913-914
Author(s):  
Neil A. Holtzman
Keyword(s):  
Sickle Cell Disease ◽  
American Academy ◽  
Sickle Cell ◽  
Second Phase ◽  
Pilot Program ◽  
Cooperative Study ◽  
Cell Disease ◽  
Pilot Studies ◽  
American Academy Of Pediatrics

Ten years ago, the initial report of the Committee on Genetics of the American Academy of Pediatrics was published, drawing heavily on the landmark report published 2 years earlier by the National Academy of Sciences. That report stated that new mass screening tests should not be implemented without pilot studies or facilities for follow-up. I would like to deal with the efficacy of screening as determined by pilot studies, the effectiveness of routine screening, and the importance of follow-up. The Cooperative Study of Sickle Cell Disease was essentially the first phase of a large pilot program that systematically demonstrated that sepsis, meningitis, and acute splenic sequestration occurred in young infants with sickle cell disease. Previous reports suggested, and the cooperative study corroborated, that without prior diagnosis many of these infants would die. The randomized trial of oral penicillin prophylaxis was the second phase of the pilot program, demonstrating that early treatment significantly reduced mortality. Thus, the results of this pilot program, conducted with support of the National Institutes of Health, documented that newborn screening for sickle cell disease satisfied a major criterion for screening: An intervention capable of reducing mortality would be efficacious if applied before the usual age of clinical diagnosis. The pilot program was conducted under ideal conditions. The findings are not enough to conclude that screening for sickle cell disease and other hemoglobinopathies will always be effective when performed routinely.

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