PedWi098

download PedWi098

of 6

Transcript of PedWi098

  • 7/29/2019 PedWi098

    1/6

    In 8th grade, Meredith Zanelotti came down with a badcase o the fu, so bad that she had trouble walking in her

    Ellicott, Md., home. Her fu passed but rom then on herparents noticed that she experienced severe pain in her legsater each soccer practice. Interestingly, the pain subsided aterMeredith downed her usual post-practice snacks and Gato-rade. Her Highland, Md., pediatrician, Me stern, puzzledby the strange symptoms and their response to the snacks,suspected they had genetic rather than skeletal origins. Indeed,at Johns Hopkins tests revealed that Meredith had CarnitinePalmitoyltranserase (CP) II Deciency, an extremely raregenetic disorder characterized by recurring episodes o muscle-ber breakdown, which explained the girls lower limb pain.Pediatrician/geneticist Rnad Chn, an expert on hypoto-nia, quickly gured it out.

    Dr. Cohn was an angel who ell out o the sky, says Mer-ediths mother, Gail Zanelotti. When I told him ood seemedto make her muscle pain go away, he put two and two together.

    Cohn explains that or CP II Deciency patients likeMeredith, multiple triggers rom exercise to a virus canset o the painul breakdown o muscle tissue. Loading up oncarbohydrates has the eect o normalizing muscle metabolismand suppressing any muscle aches. But too oten, Cohn says,such symptoms can mask as orthopedic or rheumatologicconditions, delaying diagnosis and treatment. He adds thatcommunity pediatricians are generally good at detecting signso hypotonia and appropriately reerring patients to pediatricneurologists or developmental pediatricians (see story page 6).But there is no one place where these patients can receive a

    comprehensive workup with an eye on both physical and ge-netic causes in diagnosing patients, which explains why Cohnled the development o the Johns Hopkins Hypotonia Center,the only such center in the world.

    Trough my residency and clinical experience, Cohn says,I realized a whole lot o patients out there have low muscletone and not necessarily a skeletal-muscle disorder.

    In act, hypotonia is associated with over 600 known ge-netic conditions, and potentially many more yet unnamedconditions. Center sta like genetic counselor Emiy lii,

    Cohn explains, have the ability to look beneath the surace ohypotonia and identiy these oten more serious underlyingconditions, which otherwise go undetected and untreated withdire results. CP II Deciency, or example, can lead to lie-

    threatening kidney ailure, though many people with the disor-der are completely unaware o its existence until they undergogenetic testing. Similarly, genetic testing o hypotonia patientshas led to the identication o chromosomal abnormalitieslike Williams Syndrome and related structural problems in thebrain, heart and kidney, among other organs. Such clinicalinormation, Lisi notes, is also helpul or parents who arethinking about having more children.

    outging teen Meredith Zanetti ha been abe t remain activethrugh management f her w muce tne and underyinggenetic dirder at the Jhn Hpin Hyptnia Center.

    3 4 5 6

    Cae Cnference In Tria In Cinic In Practice

    WInTeR 2009

    Pediatrician

    Many patients with low muscle tone go undiagnosedand untreated for months or years, leaving parentsfeeling lost in a system with no real answers.

    TreatingHypotonia

    continued on page 5

  • 7/29/2019 PedWi098

    2/6

    2| PEDIATRICIAN WInTeR 2009

    Tch UpdatDirctors Colum

    George Dover, M.D.Director,Johns HopkinsChildrens CenterGiven Professor ofPediatrics

    W

    ith nw Yars coms rs-

    olutios, ad our fridsat th Amrica Acadmy

    of Pdiatrics hav comup with som halthy os for our patits.

    Thy rag from I will brush my tth twica day, ad wash my hads aftr goig to th

    bathroom ad bfor atig for prschool-rs to I will at at last o fruit ad o

    vgtabl vry day for 13-yar-olds ad up(s http://www.aap.org/advocacy/rlass/

    jakidstips.cfm). Idd, so much about goodpdiatric mdici is couragig prvtio

    ad wllssbut v mor is about co-tiuig to study ad udrstad childhood

    disass ad dvlop w ad mor ffctiv

    ways to dtct ad trat thm. Ad that, w

    kow, works bst through a collaborativpractic of pdiatric mdici with you thcommuity pdiatricia.

    So, o our d this w yar, w rsolvto cotiu to partr with you ad with

    your patients and their families. As this rst

    issu ofPediatrician i 2009 illustrats, wll

    cotiu to xplor w ways to dtct adtrat rar gtic disordrs ad thir symp-

    toms, as wll as mor commo coditioslik food allrgy. Our patits ar gratly

    challgd by complx chroic coditios

    like cystic brosis, and well carry on our

    rsarch fforts with groups lik th CysticFibrosis Foudatio to prolog survival ad

    improv th quality of lif for thos patits.Wll shar with you what xprts aroud

    th coutry tll us at our Grad Roudsabout udrstadig disass lik sickl

    cll, but wll also cotiu to look to yourisights i maagig both commo ad com-

    plx disordrs. So, plas do shar your x-prics with us this yar via -mail to our

    ditor Gary Loga at [email protected], tohlp us provid a v highr lvl of car

    for all of our patits.

    Thak you, joy this issu ad hav a

    Happy ad Halthy nw Yar!

    HealthyResolutions

    looking or the latest onECMO in neonates? Intrave-

    nous Ibuproen? Oxygenatingneonates? Sure, therere lots oneonatology journal articles out thereon such topics but not so much thatactually organizes, condenses and trans-lates such critically important subjectsinto daily patient care.

    Its hard to aggregate all the inor-mation thats being published in a waythat makes sense at the bedside, saysneonatologist Chritph lehmann.Our online newsletter provides some-thing that is really applicable. At the endo an article, hopeully youve learned

    something that changes the way youpractice medicine.

    Tat was the aim, Lehmann explains,in launchingeNeonatal Reviewin 2003to some 1,200 subscribers, mainly neo-natologists, respiratory therapists andNICU nurses. Each monthly e-letterincludes summaries o hal a dozenneonatal topics and commentary byHopkins Childrens neonatologists

    Lehmann, Edward lawn andlawrence Ngee. Te articles,

    which are supplemented by podcasts,are ully accredited and provideCME credits online.

    Tis is not the esoteric stu, saysLehmann. Occasionally well throwsomething in thats more theory butmostly were practicality oriented.

    Apparently the ormula is work-ing as eNeonatal Reviews online listhas grown to over 10,000 subscribers,including an increasing number ocommunity- and hospital-based pedia-tricians. Breasteeding o pre-terms,CPAP in the delivery room, among

    other topics, are o interest to generalpediatricians, says Lehmann.

    Most o these topics are everydayclinical issues, says Lehmann, and ori-ented or those who want to know thelatest evidence, the latest approaches,and what has been proven to work. n

    For mor iformatio, visit http://www.

    hopkiscm.du/ofp/noatalRviw/

    Neonatal Online

    At CMe

    March 30-April 1The spectrum f Devepmenta Diabiitie: A Prag-matic View f the scia Brain Topics iclud g-viromt ffcts o social

    dvlopmt, dvlopmt of pr rlatios, ad Asprgr Sydrom diagosis.

    April 20-2437th Annua Pediatric Trend Topics iclud ambiguous gitalia,axity disordrs, childhood obsity, ad pdiatric stm cll trasplat.

    Sptmbr 24-2524th Annua Pediatric fr the Practitiner: Update 2009

    Ulss othrwis otd, all courss ar at Johs Hopkis Uivrsity School of Mdi-

    ci, Turr Bldg. For mor iformatio, call 410-502-9634 or mail [email protected].

    Continuing Education Schedule 2009

    Chritph lehmann, M

  • 7/29/2019 PedWi098

    3/6

    In the traditional evidence-based ap-proach o academic medicine research,investigators begin with a basic scienceobservation and end, hopeully, with

    a clinical treatment. Countless times andover many years this bread-and-buttermethod has moved scientic discoveriesinto meaningul clinical outcomes. Buthematologist Michae DeBaun o Wash-ington University School o Medicinerevealed at a recent Grand Rounds at Hop-kins Childrens that a reverse translationalresearch model in which investigators

    rst make a patient observation, conductretrospective and prospective cohort stud-ies, study the disease mechanism and thenpursue a targeted intervention trial mayalso serve patients well.

    Tis is just the reverse, says DeBaun.We go rom an observation at the bedsideto working with our colleagues in basic sci-ence, a bedside-to-bench approach. Hope-ully, we come back to the patient with atarget therapy.

    o make the case, DeBaun beganGrand Rounds with his observation o an11-year-old child with sickle cell disease

    with diuse pain or three weeks, despitea prescription or pain medicine. Terewas no wheezing on examination, but aterconducting pulmonary unction tests,DeBaun and his colleagues noted that thepatient had signicant airway obstruction

    asthma. Tat, and a series o clinical ob-servations, prompted DeBaun and his teamto conduct a retrospective cohort studythat ound asthma increases the risk oacute chest syndrome and the rate o pain-ul crises in sickle cell children (PediatricPulmonology2004: 38(3):229-232). Ten,in his two prospective cohort studies, heound that asthma is an independent riskactor or pain and acute chest syndrome(Blood2006; 108(9):2923-7), and orpremature death (Haematologica2007) insickle cell patients.

    Sickle cell children with asthma had atwo-times greater risk o being hospitalizedor pain then sickle cell patients withoutasthma, DeBaun reported. And the chil-dren who were admitted to the hospitalwith pain and asthma had a our timesgreater risk o developing acute chestsyndrome.

    Te take-home message, he said, is thatgiven the high rate o asthma among chil-dren with sickle cell disease about 20percent coupled with the increased rateo pain associated with asthma, every childwith sickle cell disease should be evaluated

    or asthma and, i diagnosed, appropri-ately treated. Oten times the respiratorysymptoms can be a complication o sicklecell disease, such as acute chest syndrome.But, DeBaun added, in our experiencethe respiratory complications are most

    oten related to asthma and should betreated as asthma.

    DeBaun added, however, that whilestudies have shown that steroids, a corner-stone o asthma exacerbation treatment,reduce the painul episodes in sickle cellpatients, they also tend to hasten thosepatients recovery to baseline. Te resulthas been a 25 percent increase in hospitalre-admissions or those patients.

    Te care o the child with sickle cellshould be multidisciplinary and includehematologists, neurologists, cardiologistsand pulmonologists, DeBaun concluded.Te patients symptoms and complica-tions go beyond any one discipline. n

    At Grad Rouds

    From the Bedside tothe Bench and Back

    3| PEDIATRICIAN WInTeR 2009

    If a disease were killing our

    children in the proportions that

    injuries are, there would be a hugepublic outcry and we would be told

    to spare no expense to fnd the

    cure.

    Citig th abov quot fromformr Surgo Gral C.

    evrtt Koop, Andrea Gieen,dirctor of th Johs Hopkis

    Ctr for Ijury Rsarch adPolicy i th Bloombrg School

    of Public Halth, providd arct Grad Rouds ovrviw

    o th latst i pdiatric iju-

    ris. Th bad ws? I 2000,

    accordig to th Ctrs for

    Disas Cotrol ad Prv-tio, th icidc for ijuris

    amog childr 0-14 yars oldwas 3.4 millio, of which 7,273

    wr fatal ad 135,635 wrhospitalizd ijuris. Total

    liftim costs? $50.5 billio, i-cludig $11.9 billio for mdical

    costs alo. Th good ws?Th umbr of uittioal

    ijury daths for ladig caussamog childr udr 14 yars

    of ag has dclid from 1987to 2004. Motor vhicl fatalitis

    dcrasd from 3,587 to 2,431,

    bicycl ijury fatalitis from

    389 to 132, ad bur fatalitis

    from 1,233 to 512. Much of thcrdit gos to itrvtios

    lik bicycl hlmts, car satlaws, ad smok alarms, but

    also to a pidmiologic ap-proach to studyig ijury, th

    dvlopmt of vidc-basditrvtios, ad to icras-

    ig collaboratios btwpublic halth profssioals ad

    pdiatricias. Citig Hopkisxpric, Gil otd that

    icrasig ad improvig physi-cia couslig, dissmiatig

    safty products at rducd cost,

    ad traiig studts ad pro-

    fssioals i ijury cotrol has

    rsultd i gratr gagmtwith parts ad improvd

    safty bhaviors amog fami-lis. Two Hopkis Childrs

    safty ctrs, Gil addd,ar modls for how partr-

    ships btw public halth adpdiatrics ca rduc ijury

    risk. Dspit grat progrss,sh cocludd, ijury rmais

    th umbr o halth thratto childr. effctiv itrv-

    tios xist but challgs r-mai, spcially for low icom

    familis. For mor iformatio,

    visit http://www.jhsph.du/iju-

    ryctr/idx.html n

    Preventing Pediatric Injuries: What Works?

    Th patits symptoms adcomplicatios go byod ayo discipli. MICHAEl DEBAUN, M.D

  • 7/29/2019 PedWi098

    4/6

    A

    t the annual NorthAmerican CysticFibrosis Conerence

    in Orlando, Fla., lastOctober, Pretn Campbe,the CF Foundations vice presi-dent or medical aairs, reportedon a diverse pack o new andongoing therapies designed toimprove quality o lie, extendsurvival and nd a cure or CFpatients. Leading the charge, henoted, are drugs targeting the de-ective CF protein itsel, CysticFibrosis ransmembrane Regula-tor, or CFR.

    Our hope is that throughthese new therapies and im-proved care CF patients will livewith the disease and die romother causes, he said, notingthat CF patients survival is nowin the 37-year plus range andgoing up each year.

    Regarding the CFR ocus,Campbell explains that whileproteins produced rom normalcells create channels in theirmembranes that, like gates, en-able ions to come and go, the

    gate in the deective CF proteinis either missing or impaired,preventing chloride rom mov-ing out. Te result is the char-acteristic thick mucus producedin CF patients lungs. Restoringthe CF protein unction, Camp-bell notes, may produce benetsranging rom improved airwayclearance to reduced inectionsin the lungs.

    Among the therapies targetingCFR is VX-770, developed by

    Vertex Pharmaceuticals, whichhas been shown to open up chlo-

    ride channels and lower sweatchloride values, a diagnosticmeasure o CF. Te results rom

    a Phase I trial o 16 patientsover two weeks in March 2008,Campbell explains, show or therst time that a drug could actu-ally x the biochemical faw insome CF patients.

    Tere was a signicant re-duction in the concentration osalt in the sweat, refecting resto-ration o CF protein unction,says Campbell. Lung unctionwent up 10 percent, too, he

    adds, noting that results o aPhase II dosing trial o the drug

    will be coming soon.While VX-770 appears to be

    sae, Campbell says, it benetedonly a small number o CF pa-tients because the majority opatients have a mutation thatprevents CFR rom getting tothe membrane where its sup-posed to operate. Tese patientsare predicted to benet rom an-other compound in the pipeline,a corrector known as VX-809.Campbell sees promise in com-

    bining the use o both Vertextherapies.

    You get the protein to theworking part o the CF cell with809 and then boost the eectwith 770, says Campbell.

    Another very promisingCFR-targeted therapy, saysCampbell, is PC-124, a com-pound that also allows the pro-tein to be made. Tis will helppatients with premature stopmutations, which result in onlypart o the protein being made.A small trial o the drug in Israeland Europe has shown throughnasal potential dierence tests anincrease in transport o chlorideacross cell membranes, as well assome improvement in lung unc-tion. A larger international trialis being organized.

    Other therapies in thepipeline, Campbell noted, aredesigned to hydrate thick CF

    mucus in the lungs, ght inec-tions and the infammatory

    response o CF, and supplementpatients nutritional needs. A di-versity o therapeutic approachesis key, he explains, becauseailure is expected in any drugdiscovery program. Only 20 per-cent o Phase I clinical trials aresuccessul, 50 percent o PhaseII, and 80 percent o Phase IIItrials.

    We have so many programsin the pipeline, says Campbell,because they increase our suc-cess by increasing our shots ongoal. n

    For mor o th CF thraputic

    pipli, visit http://www.cff.org/rsarch/DrugDvlopmt

    Pipli/

    For iformatio about trials atth Johs Hopkis CF Ctr,

    visit http://www.hopkiscf.org/

    PEDIATRICIAN WInTeR 2009 |4

    Targeting CFTR

    I Trials

    Rsarch Brifs

    Exiting recmmendatin fortreating vitamin D deciency in children

    with cystic brosis are too low to cover the

    d, lavig most at high risk for bo lossad rickts, accordig to Hopkis Childrs

    rsarchrs. I thir study i th Octobr

    2008 issu of ThJournal of Pediatrics, thy

    foud arly half of th 262 childr with

    CF in the study were vitamin D decient,

    ad th majority of ths rmaid prsis-ttly so, dspit rstorativ doss qual to

    or highr tha th rcommdatios st byth Cystic Fibrosis Foudatio. Clarly w

    havt stablishd a optimal dos for trat-

    ing vitamin D deciency and more research

    is dd to do so, says pulmoologist

    Peter Mgayze, dirctor of Hopkis CF

    Ctr. But what w do kow for sur isthat th currt rcommdatios ar too

    low, ad doctors should trat thir patits

    with vitamin D deciencies more aggres-

    sivly. For mor iformatio, go to www.

    hopkischildrs.org ad click nwsroom/

    nws Rlass.n

    W hav so mayprograms i thpipli bcausthy icrasour succss byicrasig ourshots o goal.

    PR Es To N CA MP BE ll , M. D.

    CF and Vitamin D

    Pretn Campbe, M.D.

  • 7/29/2019 PedWi098

    5/6

    By the time her daughter Reaganwas a ew months old, LissaRoberts suspected the extremeeczema she was experiencing had

    something to do with oods. Indeed, a RAS(radioallergosorbent) test ordered by Rea-gans pediatrician identied allergies to eggs,milk and peanuts. And, like most parents ochildren with ood allergies, Roberts was toldto avoid the culprits especially milk treat

    reactions when they occur, and wait or thechild to outgrow the allergy. Tat scenarioseemed extremely stressul, considering thatReagans reactions could be severe and evenlie-threatening. Also, avoidance would beno easy chore given the prevalence o milkproducts in everything rom crackers to spa-ghetti sauce.

    From then on we moved orward verycautiously, Roberts says. No pizza, no icecream socials, and we took our own ood andhand wipes to every birthday party.

    Te Roberts experience is one thatHopkins Childrens immunologist Rbert

    Wd has seen countless times. Noting thatthe quality o lie o a child with ood allergyis comparable to the quality o lie o a childwith diabetes, he has been determined todevelop therapies that go beyond strict oodavoidance or waiting or the child to outgrowthe allergy. And he took a signicant step inthat direction in a recent study that showedgiving children with milk allergies increas-ingly higher doses o milk over time may ease

    and even help them completely overcome

    their allergic reactions (Journal of Allergy &Clinical Immunology, Oct. 28, 2008).Our ndings suggest that oral immuno-

    therapy gradually retrains the immune systemto completely disregard or to better toleratethe allergens in milk that previously causesallergic reactions, says Wood.

    In the study, Wood explains, he and el-low researchers ollowed over our monthsallergic reactions among 19 children ages6 to 17 with severe and persistent milkallergy. O the 19 patients, 12 received pro-gressively higher doses o milk protein, andseven received placebo. At the onset o the

    study, the children were able to tolerate onaverage only 40 mg, or about a quarter oa teaspoon, o milk. But at the studys end,the children who had been receiving increas-ingly higher doses o milk protein were ableto tolerate a median dose o over 5 ounces omilk, without any allergic reaction or withmild symptoms like mouth itching or minorabdominal discomort. Tose who had beengetting the placebo were unable to tolerate

    doses higher than 40 mg without having an

    allergic reaction.Albeit preliminary and requiring urtherstudy, Wood says, these results suggest thatoral immunotherapy may be the closest thingyet to a true treatment or ood allergy.

    Wood notes that the tolerance in childrentreated with milk continued to build overtime, and recommends that these children,with close monitoring by their parents anddoctors, continue to consume milk daily tomaintain their tolerance. He adds that uturestudies, like this one, must be pursued withextreme caution as patients are at risk o seri-ous reactions. Immunotherapy is designed

    or patients who, based on amily history andtesting, will likely not outgrow their oodallergies about 20 percent o all kids withmilk allergy, including Reagan Roberts, whoparticipated in the study.

    It was stressul, but looking back it waswell worth it, says Lissa Roberts. Were notscared o milk anymore. n

    For mor iformatio, call 410-955-5883.

    5| PEDIATRICIAN Witr 2009

    I Cliic

    In addition to providing recurrence riskinormation, diagnosing the underlying ge-netic condition is important or giving parentsa clearer picture o what may be in store orthem in the uture, says Lisi.

    Drawing more patients through the Centerhas also allowed Cohn and Lisi to classiy pa-tients, improving diagnostic and therapeuticoptions. Some patients, like 4-year-old La-neah Whiddon o Bowie, Md., suer severehypotonia with breathing and swallowingproblems, and with no clear underlying dis-

    order or cause o the hypotonia. Te Centersapproach, Cohn says, is to empathize withparents and take the burden o diagnosis otheir shoulders.

    I tell parents that while I continue tochase the diagnosis, at the same time wellcontinue to ocus on the management o thechild, Cohn says. Te majority o parentsappreciate not having to worry too muchabout what it is. Whether or not you have adiagnosis, together we will manage the childthe best we can.

    His patients parents agree. Hes been

    there to guide me on what to do and what notto do, says Laneahs mother, Dana Whid-don. Without him, Id eel pretty lost.

    Hes been our go-to guy, says GailZanelotti. Hes allowed us to see the wholepicture. n

    For mor iformatio, call 410-955-3071 or

    visit th Johs Hopkis Hypotoia CtrWb sit at http://www.hopkismdici.

    org/gticmdici/Cliical_Rsourcs/

    Hypotoia/

    Drinking MilkDecreasesMilk AllergyReactions

    Immuntherapy, nte immungit Rbert Wd, with a yung mi-aergy patientand immungy few Pamea Guerreri, i deigned fr patient wh wi iey ntutgrw their fd aergy.

    Hypotoniacontinued from page 1

  • 7/29/2019 PedWi098

    6/6

    Non-Prot Org

    U.S. Postage

    PAID

    Baltimore, MD

    Permit No. 1608

    PediatricianPediatrician i prduced quartery by the Jhn Hpin ChidrenCenter Ofce of Communications and Public Affairs.

    Medical Editor: Kenneth Schuberth, M.D.Director: Kim MartinEditor: Gary LoganSenior Writer: Wendy MullinsContributing Writers: Elyse Exposito, Katerina PeshevaDesigner: Abby FerrettiPhotographers: Keith WellerDistribution: Naomi BallWeb site: www.hopkinschildrens.org 2009 Johns Hopkins University andTe Johns Hopkins Health System CorporationTo REACH HoPkINs CHIlDRENs

    Phyician t Phyiciano reer or check on the condition o a patient,or to consult with a Hopkins physician, call410-955-9444 or 1-800-765-544724 hours a day, 7 days a week

    o contact the Johns Hopkins Childrens CenterOce o Development, call 410-516-4545.

    Te Johns Hopkins Childrens CenterOce o Communications and Public Aairs100 N. Charles Street/Suite 200Baltimore, MD 21201410-516-4741

    lutherville, Md., pediatri-

    cianJan Gdteinsays he instantly thinksgenetics consult when

    he sees a child with signs o hy-potonia, or low muscle tone. Butthat hasnt always been the casein his clinical experience, he adds,because genetic services with aocus on hypotonia are reallyrare, a very specialized niche.

    I youre not at a center thathas a geneticist, and not everycenter has one, youre talking

    about a big commitment o timeand travel to get your patient tothe right person, says Goldstein.Here, you have all that you needat your ngertips.

    Goldstein was reerring to theJohns Hopkins Hypotonia Cen-ter (see page 1). General pedia-tricians can identiy low muscletone in tracking their patientsmilestones, Goldstein says, butmaking a diagnosis is a wholeother matter. Because hypotonia,a symptom and not a condi-

    tion, is associated with some 600genetic disorders, having a com-bined genetics-hypotonia servicenearby is a rare opportunity.

    But that, he stresses, doesntmean community docs simply

    drop o and drive o. Coordi-

    nation o care with the geneti-cist, as well as subspecialists likeneurologists and pulmonolo-gists, is crucial. Te hypotoniacenter will likely direct care butthe primary care will continuethrough the community pedia-tricians oce.

    You try to stay current onthe disease and on top o themanagement, says Goldstein.I always talk to the subspecial-ists to make sure were on the

    same page and that I under-stand the plan.Hypotonia may be caused

    by trauma, genetic, muscle, ordevelopmental disorders, such as

    Down syndrome and musculardystrophy. Inants with hypo-tonia tend to have a foppy ragdoll appearance with arms and

    legs hanging by their sides andlittle or no head control. Patientsmay also have problems with mo-bility and posture, breathing andspeech. Hypotonia does not aectintellect, though an underlyingcondition may result in delays insocial, speech and reasoning skills.

    reatment begins with athorough diagnostic evaluation,including an assessment o motorand sensory skills, balance andcoordination, mental status,refexes, and unctioning o thenerves. Diagnostic tests such as aC scan o the brain, an EMGto evaluate nerve and muscleunction, or an EEG to measureelectrical activity in the brain may

    also be necessary.Because low muscle tone may

    aect multiple organ systemsand patients may ace risks orecurrent aspirations and inec-tions, protecting the airways andensuring that patients grow anddevelop are two o the highestpriorities or pediatricians. Notunique to hypotonia but certainlyprominent, adds Goldstein, isthe challenge pediatricians acein helping parents come to gripswith the diagnosis. Tere are ewthings in lie more dicult thanhaving a seriously sick child,Goldstein says, especially whenyoure a rst-time parent o acritically ill newborn. n

    I Practic

    Managing a ComplexMuscle Disorder

    Thr ar fw thigsin life more difculttha havig a sriouslysick child, spciallywhen youre a rst-tim part of a

    critically ill wbor. JA so N Go lD sT EI N, m .d .

    Jan Gdtein, M.D.