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Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience

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Academic year: 2021

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S132 Abstracts/NeuromuscularDisorders29(2019)S37–S208 3.3%inSMA2and1.8%inSMA3.InSMA2,FVC%pred.declinedsteeply

from5 to15 yearsof age,followed bya levelling. Conversely,in SMA3 patients FVC %pred. declined slower but steadily from 10 years of age. InSMA2 FVC% pred. significantly positively correlated with HFMSand RULM(r=0.60,p<0.01andr=0.55,p<0.01)asinSMA3(r=0.7,p<0.001 andr=0.6,p<0.01).Recumbentlengthorulnarlengthwereusedassurrogate forheightinFVC%pred.calculationinSMA2.Theresultsofthisongoing collaborativeworksuggestedthatinSMA2and3lungvolumesdeclinefrom age5and 10respectively. Lungandmotorfunctioncorrelatewellbothin SMA2and3.Thisdata willhelptheassessmentofthelong-termefficacy oftreatmentforSMA.

http://dx.doi.org/10.1016/j.nmd.2019.06.337

P.224

Supportive thoraco-lumbar-sacral orthosis (TLSO) provision for spinal muscular atrophy (SMA) type 1 children treated with nusinersen L.Abbott1,M.Main2,A.Manzur2,M.Scoto1,F.Muntoni1

1UCLGOSHICH,London,UK;2Great OrmondStreet Hospital,London,

UK

Spinal muscular atrophy (SMA) is a geneticneuromuscular condition, caused by loss of SMN1 gene resulting in reduced SMN protein with degenerationofmotorneuronsintheanteriorhorn.Initsmostsevereform (SMA type1) children presentwith weakness before 6 months. Prior to the development of treatment, children never achieved the ability to sit, typically dying by age 2 years. Nusinersen, an antisense oligonucleotide, increasestheproductionofSMNproteinbytheSMN2gene,withimproved motorfunction.SMA1childrentreatedarelivinglonger,attending nursery /school.Theyarespendingmoretimeinanuprightposition(supportedby wheelchairs/seating)aswellassomeachievingindependentsittingandskills which were previously impossible. This study aimsto evaluate the effect ofimproved functionand sittingontheir spinesand managementoptions. Routineassessment (with consentfrom families) of 30 SMAchildren on Nusinersen,aged2monthsto9yearsold,atGreatOrmondStreetHospital commonly showed spinal asymmetry either at rest or when sat and was notedas young as 4 months in a patient. This necessitated provision of supportivethoraco-lumbar-sacral orthosis(TLSO) in over70% ofchildren with theaim to slow progression and needfor spinal surgery. One child did not tolerate sitting therefore a TLSO has not been implemented and anotherwastoo severeforcasting.TLSOshave furtherbeenusedto help childrenpracticesitting withmoresupport.Nodeathshave beenrecorded inthisSMA1groupinthelast2years,wherepreviouslytheywouldhave apalliative approachto theircare with minimalphysiotherapyinput.This studyshowstheimportanceofearlymonitoringandproactivemanagement of spinal asymmetries in children with SMA 1 on nusinersen. With this increasingpopulationfurtherconsideration isneeded toearly andongoing assessmentofthesepatients.Theyneedproactivephysiotherapymanagement fornewanddevelopingchallenges.

http://dx.doi.org/10.1016/j.nmd.2019.06.338

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Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience

T.Dangouloff1,F.Boemer1,J.Caberg1,S.DiFiore1,P.Beckers1,S.Marie2,

L.Marcelis3,L.Servais1

1CHU Liege, Liege, Belgium; 2UCL, Brussel, Belgium; 3ULB, Brussel,

Belgium

Newborn screening(NBS)ofspinalmuscularatrophy (SMA)startedin southernBelgiuminMarch2018.Initiallycoveringtheannual17,000births fromtheLiegeCenter,theprogramgraduallyexpandedto3screeningcentres

and currently covers 60,000 births per year. In NBS, turnaround time is critical.Theaimofthisreportistoexaminetheeffectofactionsconducted to decrease it. During the first period, from March to December 2018 (13,000 newborns), results were available within 15.35.0 days (meanSD) after birth. Dried blood spots(DBS) were delivered to thescreening lab within3.12.9days,andanalysiswasperformedwithin83.5days.Altogether, 90% and 99% of results were available within 12.2 and 21.3 days after DBS reception,respectively. Inorder todecrease thisdelay, weconducted 5 actions that were fully operationalon January 01st.We developed and validatednewprimersfortheqPCRmethod,inordertoincreaserobustness andavoidrepeatingruns.Wehiredafull-timetechnicianspecificallydevoted to the project and conducted a training of the whole screening staff in order to ascertain thatout of officeperiods arealways andfully covered. We purchased and commissioned a new qPCR device, only devoted to SMA screening We optimized theDNA extractionprotocol, reducing the number of manual handling steps. We extended the neonatal screening programtowholeSouthernBelgium,withtheadditionof40,000sample/year from 2 other Brussels centers. DBS are punched in each lab and sent to Liege central lab, which allows having daily instead of weekly runs. These improvements led to a significant drop of 2 days (6.12.5) in the average time of results reporting. 90% and 99% of results are available within9.3 and 11.6 days, respectively. Optimization and upscaling in the screening labmaythus significantly decrease screeningdelays.To further decreaseturnaroundtime,wealsoplantoautomatizetheextractionandqPCR processes.

http://dx.doi.org/10.1016/j.nmd.2019.06.339

P.226

Longitudinal study of the natural history of spinal muscular atrophy type 2 and 3

J. Exposito, D. Natera-de Benito, L. Carrera, A. Frongia, M. Alarcón, A.Borras, J. Armas, L. Martorell,O.Moya, N.Padros, S.Roca, M.Vigo, J.Medina,J.Colomer,C.Ortez,A.Nascimento

HSantJoandeDéu,Barcelona,Spain

Spinalmuscularatrophy (SMA)ischaracterizedbythedegenerationof thecellsoftheanterior hornofthespinalcord,causingmuscleweakness and progressiveatrophy. Characterize the natural history of patients with SMAtypeIIand IIItoobtainmoreinformation abouttheclinical course. ProspectiveobservationalstudyofpatientswithSMAIIandIII.Patientswere evaluatedevery6monthsforaperiodof3years.Wecollecteddemographic, clinical andgeneticdata.For theclinical evaluation,3 standardizedscales of motor functionwere performed: Hammerrsmith Funtional Motor Scale Expanded (HFMSE), Upper Limb Module Revised (RULM), Sixt Minute WalkingTest(6MWT)andEgenKlassifikation2(EK2).Thepatientswere classified intodifferent groups depending on thetype of SMA. We have 3 years follow-up in 19 patients SMA II and 5 patients SMA III and 2 years follow-upin32 patientsSMA IIand14 patientsSMA III.InSMA IIpatients,correctedforage,asignificantlyhigheraveragescorewasfound inthemotorfunctionscalesinpatientswithSMAIIb.Similarresultswere found in patients with SMA III, with better values in patients IIIb. In 2 yearsfollow-upinSMAIIpatientsyoungerthan6yearsshowanincrease of +1.5 in HFMSE and +1.6 in RULM. In older than 6 years show a decrease of-2 inHFMSE and -0.9in RULM.Motor functionnormalized byageisbetterinAMEIIbthaninAMEIIa.Similarly,inAMEIIIbthan in AME IIIa. The age of AME II patients should be taken into account in theanalysisoftheresponseto newtreatments.Patientsyoungerthan6 yearsshowadifferenttrajectoryintheprogressionofthediseasethanolder patients.

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