atrofia m esp.pdf

R E V I S T A P O R T U G U E S A D E P N E U M O L O G I A

Vol XI N. 5 Setembro/Outubro 2005

443

Atrofia Muscular Espinhal Apoio Ventilatrio No Invasivo em PediatriaMnica Vasconcelos, Isabel Fineza, Miguel Flix, Maria Helena Estvo

Atrofia muscular espinhal Apoio ventilatrio noinvasivo em pediatria

Spinal muscular atrophy Noninvasive ventilatorysupport in pediatrics

Recebido para publicao/received for publication: 04.12.03Aceite para publicao/accepted for publication: 05.07.21

Mnica Vasconcelos1Isabel Fineza2Miguel Flix3Maria Helena Estvo4

ResumoResumoResumoResumoResumoA deteriorao da funo respiratria em crianas comdoena neuromuscular degenerativa a principalresponsvel pela elevada mortalidade associada a estasdoenas. A ventilao no invasiva (VNI) veio diminuira morbilidade e a mortalidade por insuficinciarespiratria nestas crianas. No entanto, o uso desuporte ventilatrio nalguns casos de atrofia espinhalanterior (AEA) ainda controverso.Apresenta-se um estudo retrospectivo de 22 doentescom AEA seguidos no Hospital Peditrico deCoimbra: 7 do tipo I, 11 do tipo II e 4 do tipo III. Em17 casos foi iniciado apoio ventilatrio por mscara e,

Artigo OriginalOriginal Article

AbstractAbstractAbstractAbstractAbstractThe deterioration of the respiratory function in chil-dren suffering from degenerative neuromusculardisease is the main cause of the high mortality rateassociated with these diseases. Noninvasive venti-lation (NIV) has reduced the morbidity and mor-tality due to respiratory insufficiency in these chil-dren. However, the use of support ventilation insome cases of spinal muscular atrophy (SMA) isstill controversial.A retrospective study of 22 patients suffering fromSMA who were followed up in the Paediatric Hospi-tal of Coimbra is presented: 7 of type I, 11 of type

1 Interna do Internato Complementar de Pediatria/Complementary Paediatrics Internship Student2 Assistente Hospitalar Graduada de Neuropediatria/Graduate Hospital Assistant in Neuropaediatrics3 Assistente Hospitalar de Pediatria/Hospital Assistant in Paediatrics4 Assistente Hospitalar Graduada de Pediatria/Graduate Hospital Assistant in Paediatrics

Instituio/Institution: Laboratrio do Sono e Ventilao/Sleep and Respiration Laboratory. Responsvel/Responsible: Maria Helena Estvo.Correspondncia/Correspondence to: Mnica Vasconcelos, Hospital Peditrico de Coimbra/Paediatric Hospital of Coimbra.Av. Bissaya Barreto - 3000-075 Coimbra



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II, and 4 of type III. In 17 of these cases, non-inva-sive ventilation by mask was begun, and in 3 ofthem NIV was applied for prophylactic purposes.The 7 children with SMA type I began NIV whenthey were 13 months of age on average (3 months 3 years); 5 of them died, between 1 and 15 monthsafter the beginning of the ventilation. Of the 11children with SMA type II, 8 were submitted toNIV and one died 22 months later. Three of thechildren in this group began NIV in a prophylac-tic way, and in all of them a decrease in the tho-racic deformity was observed. Of the 4 patients oftype III, 2 of them were submitted to non-inva-sive ventilation. In all of the symptomatic cases, adecrease in the frequency and severity of respira-tory infections was observed, after ventilation wasstarted. The respiratory support with NIV mayimprove the quality of life of children sufferingfrom SMA as well as prolong their life expectan-cies. In SMA type I, whose clinical manifestationsare precocious and whose prognostic is very seri-ous, the application of this support has been de-bated.

Rev Port Pneumol 2005; XI (5): 443-455

Keywords: Spinal muscular atrophy, respiratoryfailure, noninvasive ventilation, neuromuscular

em 3 destes, a VNI foi aplicada com intuitosprofilcticos.As 7 crianas com AEA tipo I iniciaram VNI comuma idade mdia de 13 meses (3 meses 3 anos) e 5faleceram, entre 1 a 15 meses aps o incio daventilao. Das 11 crianas com AEA tipo II, em 8foi instituda VNI, e uma faleceu 22 meses depois.Trs crianas deste grupo iniciaram a VNI de formaprofilctica e em todas se verificou uma diminuioda deformidade torcica. Dos 4 doentes do tipo III,em 2 foi iniciado o suporte ventilatrio. Natotalidade dos casos sintomticos verificou-se umadiminuio da frequncia e gravidade de infecesrespiratrias aps o incio do apoio ventilatrio.O apoio respiratrio com VNI pode melhorar aqualidade de vida de crianas com AEA e prolongar asua sobrevida. Na AEA tipo I, cujas manifestaesclnicas so muito precoces e o prognstico muitograve, a aplicao deste apoio tem sido discutida.

Rev Port Pneumol 2005; XI (5): 443-455

Palavras-chave: Atrofia espinhal anterior, insufi-cincia respiratria, ventilao no invasiva, doenaneuromuscular.

IntrIntrIntrIntrIntroduooduooduooduooduoA atrofia espinhal anterior (AEA) umadoena neuromuscular degenerativa,transmitida de forma autossmica recessiva. caracterizada por um dfice progressivoda fora muscular, de predomnio a nvel dasregies proximais dos membros.A AEA , geralmente, classificada em trsgrupos de acordo com a gravidade e a idade

IntrIntrIntrIntrIntroductionoductionoductionoductionoductionSpinal muscular atrophy (SMA) is a dege-nerative neuromuscular disease which isautosomal recessive transmitted. It is cha-racterised by a progressive wasting of mus-cular force, predominantly in the areas clo-sest to the limbs.SMA is generally classified into three groupsaccording to the severity of the disease and

A atrofia espinhalanterior (...) caracterizada por umdfice progressivo dafora muscular, depredomnio a nveldas regiesproximais dosmembros



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de manifestao da doena. A forma maisgrave AEA tipo I ou doena de Werdnig--Hoffmann tem um incio muito precoce,antes dos seis meses de idade, podendomuitas vezes manifestar-se ainda no perodopr-natal por reduo dos movimentosfetais. As crianas so muito hipotnicas,no chegam a adquirir a capacidade de sesentarem sem apoio e apresentam, muitoprecocemente, problemas respiratriosgraves e dificuldades alimentares. A AEAtipo II uma forma de gravidade inter-mdia, cuja idade de instalao se situaentre os seis meses e os dois anos; a crianaadquire a capacidade de se sentar, mas incapaz de se levantar sozinha e/ou andarsem apoio. Na forma menos grave, a AEAtipo III, ou doena de Kugelberg-Welander,a progresso mais lenta; os primeirossintomas surgem aps os dois ou trs anos,idade em que a criana j adquiriu amarcha. Os problemas so tanto mais fre-quentes e graves quanto mais precoce-mente se manifesta a doena.A causa mais frequente de morte em crianascom AEA e outras doenas neuromusculares a insuficincia respiratria, que se podeapresentar de uma forma aguda, como porexemplo em resultado de uma pneumonia//atelectasia, ou que se pode desenvolvermais lentamente por descompensaoventilatria progressiva. As medidas tera-puticas habitualmente usadas nesta doenaso de suporte. A fisioterapia regular, osuporte postural adequado, os mtodos deauxlio de limpeza brnquica e a manu-teno de um bom estado de hidratao enutrio so essenciais para a melhoria doestado geral destas crianas. A ventilaono invasiva (VNI) veio alterar a aborda-gem respiratria dos doentes neuromus-

the age of onset. The most severe type SMA type I or Werdnig-Hoffmann diseasepresents very early, before the patient is sixmonths old. It may often manifest itselfduring the pre-natal period, by a reductionin foetal movement. The children are hypo-tonic, never being able to sit unaided andpresent severe respiratory problems andfeeding difficulties very early on. SMA typeII is of intermediate severity and its onsetoccurs at between six months and two years.While a child suffering from this form ofthe disease may be able to sit, it cannot getup unaided and/or walk unsupported. Theless severe type, SMA type III or Kugelberg-Welander disease has a slower progression;the first symptoms appear after the age oftwo or three and by that time the child isable to walk. The problems associated withthe disease are much more frequent and se-vere the earlier the onset of the disease.The most frequent cause of death in chil-dren with SMA and other neuromusculardiseases is respiratory insufficiency. This maypresent in an acute form, for example theresult of pneumonia/lung atelectasy, or maydevelop more slowly due to progressiveventilatory descompensation. Therapeuticmeasures which are normally used to treatthis disease are support measures. Regularphysiotherapy, adequate postural support,auxiliary bronchial clearance methods andmaintaining a good state of hydration andnutrition are essential for improving thegeneral state of these children. Non-inva-sive ventilation (NIV) alters the respiratoryaspect of the neuromuscular patients,working towards an improved quality oflife and also a greater survival rate. Try-ing, however, to prolong life in situationswhich are very grave and which have a

A forma mais grave a AEA tipo I oudoena deWerdnig-Hoffmann

A AEA tipo II umaforma de gravidadeintermdia

A forma menos grave a AEA tipo III, oudoena deKugelberg-Welander

A ventilao noinvasiva (VNI) veioalterar a abordagemrespiratria dosdoentes neuromus-culares



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culares, contribuindo para uma melhoriada sua qualidade de vida e, tambm, parauma maior sobrevida. No entanto, tendera prolongar a vida em situaes muitograves e de mau prognstico, como a AEAtipo I, o que levanta questes de ordemtica, econmica e social.

ObjectivoCaracterizao das crianas com AEAsubmetidas a VNI no Hospital Peditrico deCoimbra (HPC).

Material e mtodosMaterial e mtodosMaterial e mtodosMaterial e mtodosMaterial e mtodosFoi efectuada uma anlise retrospectiva detodos os processos de crianas com odiagnstico de AEA seguidas em Consultade Pneumologia no HPC nos ltimos 11anos. As variveis analisadas foram idade,sexo, tipo de AEA; nas crianas com VNIforam estudadas as caractersticas da ven-tilao, critrios que determinaram o seuincio, nmero de infeces respiratrias,necessidade de hospitalizao e ventilaomecnica.

ResultadosResultadosResultadosResultadosResultadosNos ltimos 11 anos foram seguidos emConsulta de Pneumologia do HPC um totalde 22 doentes com o diagnstico de AEA.Actualmente, as suas idades esto compreen-didas entre os 6 meses e os 26 anos (medianade 5,5 anos), e 16 (73%) so do sexo mas-culino. Sete pertencem ao tipo I, 11 aotipo II e 4 ao tipo III. Em 17 dos casos foiiniciada a VNI (Quadro I). No Quadro IIesto resumidas as principais caractersticasda ventilao.A idade de incio de ventilao das setecrianas com AEA tipo I variou entre os trsmeses e os trs anos (Fig. 1). Os critrios

poor prognosis, such as SMA type I, leadsto questions of an ethical, economic andsocial nature.

AimCharacterisation of the children with SMAwho underwent NIV at the Paediatric Hos-pital of Coimbra (PHC).

Material and methodsA retrospective study of all the clinical filesof SMA diagnosed children who were fol-lowed up in Pulmonolgy appointments at thePaediatric Hospital of Coimbra over the last11 years was made. The variables which wereanalysed were age, sex and type of SMA. Inthe children who had undergone NIV, thecharacteristics of ventilation, the criteriawhich determined its initiation, the numberof respiratory infections, the need for hos-pital admittance and mechanical ventilationwere studied.

ResultsA total of 22 SMA diagnosed patients havebeen followed up in Pulmonolgy appoint-ments at the PHC over the last 11 years. Theages of the patients currently varies fromn6 months to 26 years (with an average of 5.5years) and 16 (73%) are male. Seven are oftype I, 11 are of type II and 4 are of typeIII. NIV was begun in 17 of these cases (Ta-ble I). The main characteristics of ventila-tion are summarised in Table II.The age at which ventilation was begun inthe seven type I SMA children varied fromthree months to three years (Fig. 1). Thecriteria which determined initiating ventila-tion were acute respiratory insufficiency dueto pneumonia in 4 children and chronic res-piratory insufficiency in 3. Five children died



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que determinaram o seu incio foraminsuficincia respiratria aguda por pneumo-nia em 4 crianas e insuficincia respiratriacrnica em 3. Cinco crianas faleceram, en-tre 1 a 15 meses, aps o incio da VNI, 4na sequncia do episdio de descom-pensao respiratria que motivou ventilaomecnica. As duas crianas actualmenteventiladas tm 22 meses e 6,5 anos e estosob ventilao h 16 meses e 3,5 anos,respectivamente.

within 1 15 months of beginning NIV;4 following respiratory descompensationepisodes which led to mechanical venti-lation. The two children currently onventilation are aged 22 months and 6.5years and have been on ventilation for 16months and 3.5 years respectively.The 11 SMA type II patients are aged be-tween 15 months and 12 years. In 8 an NIVprogrammed was initiated between the agesof 11 months and 9 years. The reasons for

Quadro I Distribuio dos casos de AEA por tipo e apoioventilatrio

Table I SMA cases by type and ventilatory support

Table II Ventilation characteristicsQuadro II Caractersticas da ventilao

IR- insuficincia respiratria; IPAP- inspiratory positive airway pressure; EPAP- expiratory positive airwaypressure; M- meses; A- anos

RI-respiratory insufficency; IPAP- inspiratory positive airway pressure; EPAP- expiratory positive airwaypressure; M- months; Y- years



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0

1

2

3

4

5

6

7

1 2 3 4 5 6 7 8 9 10 >10

AEA tipo I

AEA tipo II

AEA tipo III

anos de idade years of age

0

1

2

3

4

5

6

7

1 2 3 4 5 6 7 8 9 10 >10

AEA tipo I

AEA tipo II

AEA tipo III

Os 11 doentes com AEA tipo II tm idadescompreendidas entre os 15 meses e os 12anos. Em 8 foi iniciado o programa deVNI entre os 11 meses e os 9 anos, porinsuficincia respiratria aguda em 2 casos,insuficincia respiratria crnica em 3 epara efeitos profilcticos nos restantes 3.Uma criana faleceu cerca de 22 meses apsiniciar VNI, no decurso de uma infecorespiratria aguda. As 3 crianas queiniciaram ventilao de forma profilcticano tinham qualquer sintomatologiarespiratria. Aps o incio da ventilao,aos 11, 19 e 26 meses de idade, verificou-seem todas uma diminuio importante dadeformidade torcica. Actualmente, tm 15meses, 5 e 3 anos, respectivamente; apenasuma teve uma infeco respiratria que

this were acute respiratory insufficiencyin 2 cases, chronic respiratory insuffi-ciency in 3 cases and prophylactic NIVin the remaining 3. One child died around22 months after beginning NIV due to anacute respiratory infection. The 3 childrenwho began prophylactic ventilation hadno respiratory symptoms. After begin-ning ventilation at 11, 19 and 26 monthsof age, a decrease in thoracic deformitywas observed in all. These children arecurrently aged 15 months, 5 and 3 yearsold respectively. Only one of the threehas had a respiratory infection which ledto admittance to hospital. In the remai-ning 4 children the duration of the venti-lation varied between 9 months and 4.5years and after starting NIV there was a

SMA type I SMA type II SMA type IIIAEA tipo I AEA tipo II AEA tipo III

Fig. 1 Idade de incio da VNI para os diferentes tipos de AEA Fig. 1 Age at beginning NIV for the different SMA types

Table III Comparison of the number of respiratory infections, neededhospital admittances and mechanical ventilations before and after be-ginning NIV

Quadro III Comparao do nmero de infeces respiratrias,necessidade de hospitalizao e de ventilao mecnica antes e aps oincio da VNI



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motivou internamento hospitalar. Nasrestantes 4 crianas a durao da ventilaovaria entre os 9 meses e 4,5 anos e, apsiniciarem a VNI, houve uma diminuiosignificativa do nmero de infecesrespiratrias, um menor nmero deinternamentos hospitalares e uma menornecessidade de recorrer ventilao mec-nica (Quadro III). Estas crianas referiram,ainda, uma melhoria das queixas associadas sua hipoventilao crnica, nomeada-mente perturbaes do sono, acordaresmltiplos, sudorese nocturna e cefaleiasmatinais. Dos 3 doentes que no foramventilados, 2 foram transferidos para outraunidade hospitalar por terem ultrapassadoa idade peditrica.Dos 4 doentes com AEA tipo III, 2 estocom ventilao nocturna no domiclio.Iniciaram VNI no decurso de uma pneumo-nia, um aos 2 anos e 9 meses e o outro aos20 anos, e esto ventilados h 4 e 3 anos,respectivamente. Aps iniciarem ventila-o, tiveram uma diminuio importantedo nmero de infeces respiratrias e novoltaram a ser hospitalizados (Quadro III).O mais velho frequenta um curso superiorcom bom aproveitamento. Os outros doisdoentes, que no esto ventilados, sojovens adultos (20 e 26 anos) sem qualquerclnica respiratria, tendo sido ambos trans-feridos para um hospital de adultos da rea.

DiscussoDiscussoDiscussoDiscussoDiscussoA deteriorao da funo respiratria emcrianas com doena neuromusculardegenerativa a principal responsvel pelaalta mortalidade associada a estas doenas.A diminuio da capacidade pulmonar totale da capacidade vital (CV) esto claramenterelacionados com o grau de atingimento

significant drop in the number of respira-tory infections, less admittance to hospi-tal and less need for mechanical ventila-tion (Table III). In addition, these childrenexperienced an improvement in the com-plaints associated with chronic hypoventi-lation, such as sleep disturbances, nightsweats and morning headaches. Of the 3patients which did not undergo ventila-tion, 2 were transferred to another hospi-tal centre as they were no longer of paedi-atric age.Of the 4 SMA type II patients, 2 are on homenight ventilation. They began NIV follow-ing pneumonia, one at the age of 2 yearsand 9 months and the other at the age of20. They have been on ventilation for 4 and3 years respectively. After beginning ventila-tion they had a significant drop in the numberof respiratory infections and they did notneed to be admitted to hospital again (Ta-ble III). The older patient is enrolled infurther education and is doing well. Theother two patients, who were not on ven-tilation, are young adults of 20 an 26 yearswith no clinical respiratory picture andhave both been transferred into a localhospital for adults.

DiscussionThe deterioration of respiratory function inchildren with degenerative neuromusculardisease is the main cause of the high mor-tality rate associated with these diseases. Thediminishing of the total lung capacity andthe vital capacity (VC) are clearly related tothe degree of muscular growth in that theVC diminishes as the disease evolves.1Several factors contribute to increasing thenumber of respiratory problems these chil-dren suffer from1-3: a) muscular weakness,

A deteriorao dafuno respiratriaem crianas comdoenaneuromusculardegenerativa aprincipal responsvelpela alta mortalidadeassociada a estasdoenas

A CV diminui medida que a doenaevolui



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muscular, de forma que a CV diminui medida que a doena evolui1. So vriosos factores que contribuem para umaumento dos problemas respiratriosnestas crianas1-3: a) fraqueza muscular,nomeadamente dos intercostais que soafectados precocemente, levando a umaconformao do trax em sino e a respi-rao paradoxal; b) deformidade torcica,secundria a cifoescoliose grave, comdiminuio da compliance pulmonar; c) tosseineficaz, tambm por fraqueza muscular,com uma clearance inadequada das vias areas;d) ausncia de respiraes profundas espon-tneas que normalmente reinsuflam zonasatelectsicas; e) distrbios do sono, secun-drios a hipoventilao alveolar e predispo-sio a obstruo das vias areas superiores.A VNI por presso positiva tem sido usadacom sucesso no suporte respiratrio depacientes com complicaes agudas ecrnicas de doenas neuromusculares. umaopo segura, bem tolerada, facilita odesenvolvimento da criana e no interferecom a vocalizao e aprendizagem, proble-mas inerentes traqueostomia. Ajuda asuprimir os sintomas de hipoventilao al-veolar crnica (acordares mltiplos, sudoresenocturna, cefaleias matinais, sonolnciadiurna), facilita a extubao, pode prevenira entubao em caso de insuficinciarespiratria, melhora a qualidade de vida eaumenta a sobrevida. Pequenas compli-caes podem ocorrer, como a secura dasmucosas, lcera do dorso do nariz ou dafronte, conjuntivite, depresso do maciocentral da face, todas associadas ao usoprolongado da mscara nasal4.Para o sucesso da VNI fundamental umsuporte familiar adequado que garantatodos os cuidados no domiclio. O presta-

specifically in the intercostals muscleswhich are affected early on leading to thebell shaped distortion of the thorax andparadoxical respiration; b) thoracic de-formity, secondary to serious scoliosiswith loss of lung compliance; c) drycough, accompanied by muscular weak-ness, with inadequate clearance of the airways; d) lack of the spontaneous deep res-piration which normally reinflatesatelectasy; e) sleep disturbance, secondaryto alveolar hypoventilation and predis-position to obstruction of the upper airways.NIV by positive pressure has been used suc-cessfully as respiratory support in patientswith acute and chronic complications ofneuromuscular diseases. It is a safe optionthat is well tolerated and that promotes thechilds development and that doesnt inter-fere with speech and learning, problems in-herent in a traqueostomy. It helps to sup-press the symptoms of chronic alveolarhypoventilation (frequent wakings, nightsweats, morning headaches, day time sleepi-ness), it eases the process of extubation, itcan prevent intubation in the case of respi-ratory insufficiency, improving the quality oflife and increasing survival. Minor compli-cations may occur, such as dry mucous, dor-sal and front nasal ulcers, conjunctivitis, de-pression of the central mass of the face all associated with the prolonged use of thenasal mask.4.In order for NIV to be successful, familysupport sufficient to guarantee total homecare is fundamental. The childs care providershould be familiar with the use of the manualinsufflator in case of sudden desaturation,with secretion aspiration, with readjusting thenasal mask and in the repositioning of the

A VNI por pressopositiva tem sidousada com sucessono suporterespiratrio depacientes comcomplicaesagudas e crnicas dedoenasneuromusculares

Para o sucesso daVNI fundamentalum suporte familiaradequado



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dor de cuidados da criana deve estar fami-liarizado com a utilizao do insufladormanual em caso de dessaturaes sbitas,na aspirao de secrees, no reajuste damscara nasal e no reposicionamento dacriana, de forma a facilitar a ventilao ea eliminao das secrees das vias areas5.No HPC, o programa de VNI foi iniciadoem 17 crianas com o diagnstico de AEA.Nas crianas com AEA tipo II e III,verificou-se um menor nmero de infecesrespiratrias, de internamentos hospitalarese do recurso ventilao mecnica invasivaaps iniciarem a ventilao. A possibilidadede ser efectuada no domiclio vai, tambm,favorecer o crescimento e desenvolvi-mento destas crianas, permitindo umamelhor reinsero social e familiar. Po-demos, assim, estimar que, neste grupo decrianas, a VNI contribuiu para melhorara sua qualidade de vida e a da sua famlia.Em 3 crianas com AEA tipo II a decisode iniciar ventilao foi tomada de formaelectiva. A multiplicao alveolar muitoimportante nos primeiros anos de vida e osmovimentos torcicos tm um papel signifi-cativo neste crescimento. Assim sendo, aventilao artificial iniciada precocemente emcrianas com paralisia dos msculos respi-ratrios, vai permitir o desenvolvimento dacaixa torcica e o crescimento pulmonar6e vai aumentar a capacidade vital, atravsda expanso passiva dos pulmes e do re-pouso dos msculos respiratrios, quandoo suporte ventilatrio institudo noite7.Em todas as crianas que iniciaram venti-lao de forma profilctica se verificou umadiminuio importante da deformidadetorcica, embora no haja dados objectivosque permitam quantificar esta observao.Bach et al5 tambm verificou um desapare-

child so as to facilitate the ventilation andthe elimination of the secretions from theair ways.5.At the PHC, NIV was started in 17 childrendiagnosed with SMA. Children with SMAtype II and III had fewer respiratory infec-tions, admissions to hospital and recourseto invasive mechanical ventilation after be-ginning ventilation. The possibility of car-rying out ventilation at home was anotherfactor contributing to the growth and de-velopment of these children, allowing bet-ter social and familiar integration. In thisway we can estimate that in this group ofchildren NIV contributes to improving thequality of life of the patient and its family.In the 3 children with SMA type II thedecision to start ventilation was takenelectively. Alveolar multiplication is veryimportant in the first years of life and tho-racic movements play an important partin this growth. This being the case, artifi-cial ventilation started early in childrenwith paralysis of the respiratory musclesencourages the development of the tho-racic cage and pulmonary growth6 and in-creases vital capacity through passive ex-pansion of the lungs and through reposeof the respiratory muscles when ventila-tory support is used at night7. In all thechildren who begin prophylactic ventila-tion an important diminishing in thoracicdeformity is seen, although there are noobjective data which allows for this ob-servation to be quantified. Bach et al5 havealso seen a disappearance in pectus escavatumafter beginning nasal ventilation in chil-dren with this pathology.In SMA type I, the severity of the muscularweakness and the bulbar dysfunction makesthe decision to start NIV a controversial one.

A possibilidade deser efectuada nodomiclio vai,tambm, favorecer ocrescimento edesenvolvimentodestas crianas

Em todas as crianasque iniciaramventilao de formaprofilcticaverificou-se umadiminuioimportante dadeformidade torcica



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cimento do pectus escavatum aps instituioda ventilao nasal em crianas com estapatologia.Na AEA tipo I, a gravidade da fraquezamuscular e da disfuno bulbar tornam adeciso de iniciar VNI um motivo decontrovrsia. No grupo estudado, as duascrianas ventiladas tm, actualmente, 22meses e 6,5 anos. Existem opinies muitodivergentes acerca da tentativa de prolon-gar a vida destas crianas atravs de suporteventilatrio. De facto, muito difcil defi-nir o grau de incapacidade intelectual oumotor a partir do qual se considera inacei-tvel a qualidade de vida de uma crianadoente. Alm dos conflitos ticos inerentesa esta questo, tambm se levantam pro-blemas de ordem econmica e social, umavez que a ventilao vai exigir a prestaode cuidados importantes por parte dafamlia8.A classificao dos diferentes tipos de AEAbaseia-se em critrios clnicos, noexistindo nenhum determinante genticoque determine o prognstico mais oumenos grave da doena. No h, portanto,limites precisos entre os diferentes tiposde AEA e existem formas intermedirias.Na AEA tipo I existem, pelo menos, doissubtipos de prognstico6: a) a forma maisgrave, que se inicia no perodo pr-natalou nos primeiros trs meses de vida, deprogresso muito rpida; b) a forma menosgrave, com idade de instalao entre os trse os seis meses, em que o suporte ventila-trio e as medidas ortopdicas permitemuma sobrevida mais prolongada. Conse-quentemente, como a progresso da doena diferente para cada doente, as medidasde interveno teraputica tm de serindividualizadas de acordo com as

In the study group, the two children onventilation are currently aged 22 monthsand 6.5 years old. There are very diver-gent opinions about trying to prolong thelife of these children through ventilatorysupport. In fact it is very difficult to de-fine the degree of intellectual and motorincapacity, the factor that leads to judg-ing if the quality of life of an ill child isacceptable or not. In addition to the ethi-cal considerations inherent in this matter,there are also factors of an economic andsocial nature, in that ventilation demandsthat the whole family must be involvedin the care giving8.The classification of different SMA types isbased on clinical criteria. There is no geneticdeterminant which leads towards a better orworse prognosis of the disease. In effect,there are no precise limits between the dif-ferent types of SMA and intermediate formsalso exist. There are at least two subtypes ofprognosis in SMA type I6: a) a more severeform, which begins in the pre-natal periodor in the first three months of life and has avery rapid progression; b) a less severe form,which presents at between three and sixmonths, and in which ventilatory supportand orthopaedic measures allow for a greatersurvival. In consequence, seeing as the pro-gression of the disease is different for eachpatient, therapeutic intervention measureshave to be individualised in accordance withthe needs of each patient. In a recent study9which compared the practice of differenthealth professionals in the treatment ofrespiratory insufficiency in children with SMAtype I, there was a great heterogeneity ofrecommended therapeutic options andones which have been offered to these chil-dren. Some authors5 believe that a

muito difcil definiro grau deincapacidadeintelectual ou motora partir do qual seconsidera inaceitvela qualidade de vidade uma crianadoente

A classificao dosdiferentes tipos deAEA baseia-se emcritrios clnicos

A progresso dadoena diferentepara cada doente



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necessidades de cada um. Num estudorecente9, que comparou a prtica de dife-rentes profissionais de sade no trata-mento da insuficincia respiratria emcrianas com AEA tipo I, verificou-se umagrande heterogeneidade nas opes tera-puticas recomendadas e nas que so,efectivamente, oferecidas a estas crianas.Alguns autores5 acreditam que a traqueos-tomia pode ser evitada atravs do uso deVNI, com prolongamento da sobrevida emelhoria da qualidade de vida dos doentes.Num trabalho10 em que foi avaliado o usoda ventilao por presso positiva noinvasiva e da gastrostomia em quatrocrianas com AEA tipo I, os resultadosforam decepcionantes; no entanto, os seusautores continuam a defender a mesmaorientao por uma melhor qualidade devida, apesar do mau prognstico destadoena.O conceito de qualidade de vida muitodifcil de definir em pediatria e, muitas vezes,no h concordncia entre mdicos, pais ecrianas8. A maioria dos estudos7 que avaliama qualidade de vida de crianas com venti-lao assistida referem-se a crianas porta-doras de traqueostomia, sendo escassa ainformao relacionada com a VNI. Emgeral, os mdicos tm tendncia a subestimaro grau de satisfao dos seus doentes com avida. Deve haver uma interaco dinmicaentre o mdico e a famlia que incluaconsideraes sobre a opo de cuidadospaliativos, discusso sobre os vrios modosde ventilao assistida e explorao dosvalores e expectativas da famlia. Cada crianacom AEA tipo I nica na sua doena,nos ideais, recursos e expectativas da suafamlia11. A VNI pode melhorar a qualidadede vida destas crianas e diminuir a

traqueostomy can be avoided through theuse of NIV, prolonging the survival andimproving the quality of life of the patients.The results of a study10 which studied theuse of non-invasive positive pressure ven-tilation and gastrostomy in 4 children withSMA type I were disappointing. Its au-thors, however, continue to defend thesame guidelines for a better quality of lifedespite the poor prognosis of this disease.The concept of quality of life is very dif-ficult to define in paediatrics and manytimes there is no agreement between doc-tors, parents and children8. The majorityof studies7 which evaluate the quality oflife of children on assisted ventilation cen-tre on children who have undergone tra-queostomies, and there is a scarcity of in-formation on NIV. In general, doctorshave tended to underestimate the degreeof satisfaction with their lives these pa-tients have. There has to be a dynamicinteraction between the doctor and thefamily which includes considerationsabout the option of palliative cures anddiscussion about the various models of as-sisted ventilation in addition to an explo-ration of the familys values and expecta-tions. Each child with SMA type I isunique in its disease, and in its familysideals, resources and expectations.11 NIVcan improve the quality of life of thesechildren and diminish the familys feelingof powerlessness in the face of the disease.

ConclusionsConclusionsConclusionsConclusionsConclusionsPositive pressure NIV can improve thequality of life and prolong the survival ofchildren with SMA, with repercussions atthe level of their growth and develop-ment. The use of ventilatory support in

O conceito dequalidade de vida muito difcil dedefinir em pediatria

Os mdicos tmtendncia asubestimar o grau desatisfao dos seusdoentes com a vida

A VNI pode melhorara qualidade de vidadestas crianas ediminuir a sensaode impotncia dosfamiliares perante adoena



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sensao de impotncia dos familiaresperante a doena.

ConclusesA VNI com presso positiva podemelhorar a qualidade de vida e prolongara sobrevida das crianas com AEA, comrepercusso a nvel do seu crescimento edesenvolvimento. No entanto, o uso desuporte ventilatrio em crianas com umadoena rapidamente progressiva, como aAEA tipo I, ainda controverso. Almdas questes ticas que envolvem oprolongamento da vida de pacientes comuma doena degenerativa progressiva, aqualidade de vida possvel de atingir, apsinterveno mdica, tem de ser bemdelineada.

Bibliografia/Bibliografia/Bibliografia/Bibliografia/Bibliografia/BibliographyBibliographyBibliographyBibliographyBibliography1.Gozal D. Pulmonary manifestations of neuromuscu-lar disease with special reference to Duchenne musculardistrophy and spinal muscular atrophy. PediatrPulmonol 2000; 29: 141-50.2. Barois A, Estournet-Mathiaud B. Respiratory prob-lems in spinal muscular atrophies. Pediatr Pulmonol1997; Suppl 16: 140-1.3. Seddon PC, Khan Y. Respiratory problems in childrenwith neurological impairment. Arch Dis Child 2003;88: 75-8.4. Estevo MH. Ventilao no invasiva no domiclio empediatria. Acta Pediatr Port 2000; 2(31): 135-141.5.Bach JR, Niranjan V, Weaver B. Spinal muscular atro-phy type 1 a noninvasive respiratory management ap-proach. Chest 2000; 117: 1100-56. Barois A, Estournet-Mathiaud B. Ventilatory supportat home in children with spinal muscular atrophies.Eur Respir Rev 1992; 2(10): 319-22.7. Gilgoff IS, Kahlstrom E, Eithne MacLaughlin, KeensTG. Long-term ventilatory support in spinal muscu-lar atrophy. J Pediatr 1989; 115:904-9.8. Cambra FJ, Estevo MH, Nuez AR. Aspectos ticosde la ventilacin no invasiva. En: Medina A, Pons M,Esquinas A (eds). Ventilacin no invasiva en Pediatria.

children with a rapidly progression di-sease, such as SMA type I, is, however,still controversial. In addition to the ethi-cal questions involved in prolonging thelives of patients with a progressive dege-nerative disease, the quality of life it is pos-sible to attain after medical interventionhas to be clearly defined.

A VNI com pressopositiva podemelhorar a qualidadede vida e prolongar asobrevida dascrianas com AEA



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Madrid: Ergon 2004; 143-148.9. Hardart MKM, Burns JP, Truog RD. Respiratory sup-port in spinal muscular atrophy type I: a survey of phy-sician practices and attitudes. Pediatrics 2002; 110 (2).10. Birnkrant DJ, Pope JF, Martin JE, Repucci AH,

Eibem RM. Treatment of type I spinal muscularatrophy with noninvasive ventilation and gastros-tomy feeding. Pediatr Neurol 1998; 18: 407-1011. Hardart MKM, Truog RD. Spinal muscular atro-phy-type I. Arch Dis Child 2003; 88: 848-50.

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