Respiratory management of children with spinal muscular atrophy (SMA)

Fauroux, Brigitte; Griffon, Lucie; Amaddeo, Alessandro; Stremler, Nathalie; Mazenq, Julie; Khirani, Sonia; Baravalle‐Einaudi, M.

doi:10.1016/s0929-693x(20)30274-8

Cited by 29 publications

(27 citation statements)

References 46 publications

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“…As the decision about ventilation initiation is often a joint decision with the family, caregivers have to be aware that close respiratory monitoring is needed [ 15 , 54 ]. SMA registries could facilitate standardized and consistent follow-up visits and data exchange among clinicians and researchers [ 28 ]. The goal of every discussion and treatment plan should be to provide SMA patients with the best possible quality of life, which is often grossly underestimated [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

“…Due to the physiological changes affecting the respiratory system of even healthy individuals during sleep, namely decreased functional residual capacity, hypotonia of the respiratory muscles, and increased upper airway resistance, patients with SMA compensating for the exaggerated respiratory load during the day may not be able to do so at night [ 1 , 28 ]. Airway clearance techniques with nebulizers and insufflation/exsufflation devices prevent mucus plugging and recurrent hospital admissions for respiratory infections [ 28 ].…”

Section: Introductionmentioning

confidence: 99%

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Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies

2022

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Spinal muscular atrophy (SMA) is a genetic neuromuscular disease resulting in global muscular weakness and, frequently, in respiratory failure and premature death. Gene-based therapies like Nusinersen are now available for patients with SMA. The aim of this review was to assess in “real world” studies, whether novel treatments would have a positive impact on the mechanical ventilatory support requirements of SMA patients, already initiated on ventilatory support prior to treatment administration. A literature search was performed in Pubmed using multiple combinations of MESH terms and the snowball procedure. A total of 14 publications were discussed in this review. Considering all patients included in the published studies who were on ventilatory support and were treated with Nusinersen, 13/172 (7.5%) had reduced needs for ventilatory support, 1/172 (0.6%) did not need ventilation post-treatment, and 122/172 (70.9%) were maintained on the same ventilator settings. Moreover, 2/41 (4.9%) children who were offered gene therapy had no need for further ventilatory support and 12/41 (29.2%) had reduced requirements. In conclusion, available evidence suggests that among children with SMA, who are on mechanical respiratory support either noninvasively or via tracheostomy at the time of gene-based treatment, only a few will be weaned off the ventilator or have reduced ventilator needs per 24 h. Children will usually require the same level of support as before treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies

2022

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“…Oximeters can evaluate sleep hypoventilation at home by overnight pulse oximetry with manual chart recording. 5,10 An acute decrease in oxygen saturation to <95% while asleep suggests hypoventilation or mucus plugging. 9 Hypoventilation is usually associated with long-term oxygen desaturation.…”

Section: Discussionmentioning

confidence: 99%

“…There is no clear consensus on the value of peak cough flow measurement or when should a sleep study be performed in the management of sitters. 9,10 For sitters and standers, a consensus recommends that all patients able to perform spirometry should do so during each visit. 9 A sleep study should always be performed in symptomatic patients or when there is minimal suspicion of nocturnal hypoventilation.…”

Section: Introductionmentioning

confidence: 99%

Habilitation of Child with Spinal Muscular Atrophy Type 2: A Case Report

Prananta

Rahmawati

Goesasi

2022

SPMRJ

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Spinal Muscular atrophy (SMA) is a severe neuromuscular disorder which is a hereditary genetic disease. It is an incurable disease due to a defect in the survival motor neuron 1 (SMN1) gene. This report shows the benefit of rehabilitation intervention for the habilitation of a child with SMA Type 2. A 5-year-8-month-old female diagnosed with SMA by genetic testing complained of an inability to stand independently. Her rehabilitation problems were muscle power function, mobility of joint function, respiration function, exercise tolerance function, mobility, self-care, school education, and economic life. We provided rehabilitation programs with a regular follow-up for six months, including flexibility exercises, breathing exercises, cardiopulmonary endurance exercises, standing support exercises, wheeling exercises, and activities of daily living (ADL) exercise. We coordinated with a psychologist and social workers to assess the psychology and socioeconomic condition of the patient and caregiver. The muscle power function, which was evaluated by functional motor ability assessment using the Revised Hammersmith Scale for SMA (RHS), didn't show any deterioration, and she had improvement in the ADL capability. We resolved the mobility of joint function problem in this patient for the joint stiffness in both knees, and Cobb's angle of scoliosis was decreased. Respiration function assessed by peak cough flow and chest expansion showed an increase, and exercise tolerance function was also increased. The patient received some donations from donators to overcome economic issues assisted by a social worker for the activity chair, standing frame, and modified wheelchair. She could mobilize well using her own modified wheelchair, played with friends, and attended school. A follow-up by the psychologist showed good psychological conditions of the patient and family. The quality of life assessment of patients by PedsQL Neuromuscular Modul showed improved results, and the caregiver burden assessment by The Zarit Burden Interview had decreased. Rehabilitation intervention for the habilitation of a child with SMA Type 2 can maintain, restore, and promote the patient's functional ability to provide a better quality of life and control the caregiver burden.

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“…Em outros estudos que incluíram populações pediátricas diferenciadas, valores de CVL também se apresentaram reduzidos quando a FMR estava diminuída 23,24 . A exemplo, este evento foi identificado em crianças com encefalopatia crônica, no qual tanto alterações da FMR e da função pulmonar estavam presentes 23 , também em crianças com Síndrome de Down 25 e em outras síndromes neurológicas com comprometimento muscular 26 . Quando a FMR está preservada, o exame espirométrico tende a apresentar maiores valores absolutos.…”

Section: Discussionunclassified

Is Respiratory Muscle Strength Determinant for Success in the Slow Vital Capacity Maneuver in Children?

Minsky¹,

Itaborahy²,

Schivinski³

2021

RBM

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Introdução: Objetivo: analisar a relação entre força muscular respiratória(FMR) e capacidade de atingir valores preditos na manobra espirométrica de capacidade vital lenta(CVL)em crianças em idade escolar. Método: pesquisa observacional transversal, incluiu crianças saudáveis entre 6 e 12 anos, cuja higidez controlou-se por meio de espirometria normal(Pneumatógrafo Jaeger-Master Scope IOS®), segundo American Thoracic Society (2005) e questionários de saúde (ISAAC e histórico de saúde). As crianças foram divididas em GCVL: aquelas que atingiram 80% na manobra de CVL;e como GCON: as que não atingiram este valor. As pressões máximas inspiratória (PI max ) e expiratória (PE max ) foram obtidas por meio de manovacuometria (MVD 300 Globalmed®). Após verificação da normalidade dos dados, aplicouse o teste de Spearman para análise da relação entre FMR com parâmetros de CVL. Os dados de PI max e PE max foram comparados entre os grupos, com o teste de Mann-Whitney. Adotou-se nível de significância de 5% (p<0,05). Resultados: participaram 83 crianças com média de idade de 8,54 ±1,95anos, sendo 44 no GCVL (25 meninas). Este grupo apresentou maiores valores absolutos e em percentual do predito (%)de capacidade inspiratória (CI), volume de reserva expiratório (VRE) e FMR. Houve relação entre % de CI e VRE com PE max . No GCON, (39 crianças /20 meninas) houve relação entre valores absolutos de CVL, CI, VRE e PI MAX e destes dois primeiros parâmetros e da % de CI com a PE MAX .Conclusões: houve relação entre a FMR e a capacidade de atingir 80% do predito na CVL, sendo que essa porcentagem foi alcançada pelas crianças com valores superiores de FMR.

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Respiratory management of children with spinal muscular atrophy (SMA)

Cited by 29 publications

References 46 publications

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies

Habilitation of Child with Spinal Muscular Atrophy Type 2: A Case Report

Is Respiratory Muscle Strength Determinant for Success in the Slow Vital Capacity Maneuver in Children?

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