The current COVID pandemic has struck the world like a bolt from the blue. Named as COVID-19 in February 2020, it was declared a global pandemic by the World Health Organization ( WHO ) in March 2020. Lack of travel facilities/ restrictions of movements coupled with risk of getting infected have made life miserable especially for those suffering from chronic disorders. The children and adults with spinal muscular atrophy (SMA ) are worst affected because this subgroup of population needs the utmost and continuous medical care and attention to live life optimally.

With an endeavor to help children with SMA during this trying time, the Cure SMA Foundation of India along with its scientific advisors had come up with certain guidelines for management of the special needs of these children. The focus was to provide guidelines as to how to provide care at home and how to pick up complications of the disease and intervene.

Following few online meetings and telephonic conversations, a Task Force with Multidisciplinary Physicians and Surgeons closely related to the care of SMA children from all parts of India, was formed to address the various aspects of care pertinent to the COVID – 19 pandemic. After a brain storming session and getting inputs from the task force members and care givers a plan was made to collate data according to the expertise of the various people in the task force. The data collection and writing was done in breakneck speed, which has allowed errors to creep in. However, as a rule of thumb, the editor has tried to keep things simple with originality presented by the authors and contributors. This is the first draft of these Guidelines and we are committed to continually improve this with more information and contribution from Task Force Members in due course of time.

With availability of genetic modifications, which at present is available to an extremely small subgroup of children in India, hope has flooded the horizon. Nevertheless, the quality of life of these children is primarily dependent on persistence of multi-specialty care by the medical and paramedical fraternity. Here, we will be presenting the various aspects of care pertinent to the COVID-19 situation and they are available as drop down menu

 

DISCLAIMER

These guidelines are solely for the purposes of disseminating general information and providing guidance to the caregivers and patients of Spinal Muscular Atrophy during COVID – 19. The guidelines are formulated by compiling relevant information available on public domain and do not intend to or imply to substitute professional medical advice, diagnosis or treatment. Neither the contributors, nor Cure SMA Foundation intends to make any commercial benefits or profits by this attempt. Cure SMA Foundation is not responsible for any reliance that a reader places on such guidelines and shall not be liable for any loss or damage caused due to any reliance thereof. References/sources of information used have been mentioned, as and when applicable.

SMA is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications of SMA.

Nutrition/gastrointestinal issues:

Bulbar dysfunction is universal in individuals with SMA I; the bulbar dysfunction eventually becomes a serious problem for persons with SMA II and only very late in the course of disease for those with SMA III. Gastrointestinal issues may include constipation, delayed gastric emptying, and potentially life – threatening gastroesophageal reflux with aspiration. Growth failure occurs due to gastrointestinal issues in SMA I patients. Non-ambulatory individuals with SMA II and III are at risk of developing obesity.

Respiratory:

Children with SMA I and II (and more rarely, type III) have progressive decline in pulmonary function due to a combination of weak respiratory muscles, reduced chest wall and lung compliance, and a reduction in alveolar multiplication. Respiratory failure is the most common cause of death in SMA I and II. Decreased respiratory function leads to impaired cough with inadequate clearance of lower airway secretions, hypoventilation during sleep, and recurrent pneumonia.

Orthopaedic:

Scoliosis, hip dislocation, and joint contractures are common complications in individuals with SMA. Scoliosis is a major problem in most persons with SMA II and in half of those with SMA III. Approximately 50% of affected children (especially those who are non – ambulatory) develop spinal curvatures of more than 50 degrees (which require surgery) before age ten years. Later in the disease course, non – ambulatory individuals can develop thoracic kyphosis.

Metabolic acidosis:

An unexplained potential complication of SMA is severe metabolic acidosis with dicarboxylicaciduria and low serum carnitine concentrations during periods of intercurrent illness or prolonged fasting.Whether these metabolic abnormalities are primary or secondary to the underlying defect in SMA is unknown. Prolonged fasting should be avoided to prevent this complication. Pre-symptomatic individuals should be monitored for the development of symptoms to determine appropriate timing to initiate targeted and/or supportive therapies. Individuals with SMA are evaluated at least every six months; weaker children are evaluated more frequently.

Multidisciplinary surveillance at each visit includes assessments of nutritional state, respiratory function, and orthopaedic status (spine, hips, and joints). Prolonged fasting should be avoided, particularly in the acutely ill infant with SMA.

Supportive Treatment of Manifestations in Individuals with Spinal Muscular Atrophy

 ConcernsTreatment/Referrals
1Bulbar dysfunction leading to poor weight gainGrowth monitoring, placement of gastrostomy tube and nutritional supplementation if needed.
2ObesityRegular anthropometric and nutritional evaluations and dietary management.
3Gastroesophageal reflux diseaseAntacids, proton pump inhibitors.
4Bowel dysfunction (constipation)Stool softeners, prokinetics, osmotic agents, or laxatives as needed.
5Respiratory insufficiency/ failure optionsPediatric pulmonologist referral – Airway clearance techniques and secretion management; Noninvasive ventilation, such as BiPAP; Tracheostomy with mechanical ventilation if needed
6Orthopaedic issues (Progress ive scoliosis or hip dislocation)Pediatric orthopaedician referral – Standard orthopaedic and surgical interventions as needed
7Metabolic acidosis during intercurrent illnessSupportive care with early intravenous fluids and glucose
8Family supportCoordinate care to manage multiple subspecialty appointments, equipment, medications and supplies. Ensure appropriate social support for families and to connect with local resources, respite and support. Training of caregivers for better management of patients.
9Genetic counselingScreening in pre – symptomatic newborns, prevent recurrences in family and prenatal diagnostic facilities,

Vaccinations :

Children with spinal muscular atrophy are at increased risk of serious infections. The most important points to remember are as follows:

  1. These children should be offered all routine childhood vaccinations as recommended by Indian Academy of Paediatrics
  2. There should be special focus on pneumococcal and annual influenza vaccines (CDC 2019).
  3. Routine vaccinations should not be delayed in SMA patients and should be completed at appropriate age, even in COVID era, if possible to be given at home by competent health care worker with all precautions.
  4. The immunogenicity, efficacy and duration of pr otection of vaccines are lower than healthy children and hence if indicated higher antigen content or more doses may be required in these children.

Resources:

  1. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B , Quijano – Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T, et al. Diagnosis and management of spinal muscular atrophy: Spinal Muscular Atrophy part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103 – 15.
  2. Chng SY, Wong YQ, Hui JH, Wong HK, Ong HT, Goh DY. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health. 2003;39:673 – 6.
  3. Kelley RI, Sladky JT. Dicarboxylicaciduria in an infant with spinal muscular atrophy. Ann Neurol. 1986;20:734 – 6.
  4. Centers for Disease Control and Prevention (CDC). General Recommendations on Immunization. Recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR. 2019;60:1 – 61
  5. Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14].In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle ( WA): University of Washington, Seattle; 1993 – 2020.

Spinal muscular atrophy (SMA) is a genetic condition. It is one of the commonest inherited neuromuscular disorder.

Understanding underlying genetics and inheritance

  • SMA is inherited as an autosomal recessive condition, which implies that, in most instances an affected child is born since he/ she inherits both mutated copies of the SMN1 gene from the carrier parents, who are unaffected, but has mutation in one of the two copies of the SMN1 gene.
  • The carrier frequency is fairly high in the population and an affected child is born due chance marriage of two carriers.
  • Testing for the carrier status is not widely available. Paucity of testing facilities compounded with lack of awareness makes it almost impossible to screen and detect carrier status before an affected child is born.
  • Moreover, the risk of having an affected child is 25% when both partners are carriers, so many a times, many such families never come to medical attention.

Genetic testing of a child during COVID-19 pandemic

  • Even during the pandemic, genetic testing needs to be carried out for all suspected children with this disorder.
  • Testing in children is done in blood and there is very little chance of transmission of the virus to the child during sampling and to the lab personnel if standard precautions are taken. Blood is collected in EDTA vials/ vacutainer tubes.
  • DNA is extracted and molecular testing is done by MLPA technique. .
  • In 95% to 98% instances, there is deletion of Exon 7 (and most of the times with Exon 8) detected in both copies of the SMN1 gene; for which MLPA is the right technique.
    Detection of SMN2 copy number by MLPA is important as it has implications in the clinical outcome and therapeutic strategies.
  • Carrier status in parents can also be detected by MLPA. In 2% conditions, deletion in the other copy can be denovo. In 5% to 8% carrier individuals, both the normal Exon 7 can be in one copy of the gene and the other copy has deletion, which complicates the genetic testing for carrier status and its interpretation.
  • Rarely other molecular techniques are required to confirm SMA.

Genetic testing to prevent recurrence of SMA

  • Any form of medical intervention or procedure carries the risk of viral transmission to the patient and the health care providers. It is recommended that standard precautions should be taken to prevent pregnancy during the pandemic.
  • In case there is a pregnancy in a couple who has a child with SMA (confirmed by molecular test), the risk of having another affected child is 25%.
  • Chorionic villus sampling (CVS) is recommended at 11 to 12 weeks of pregnancy to know the status of the unborn baby. In case the fetus is found to be affected, the couple can opt for MTP (Medical termination of pregnancy).
  • During the pandemic, centres to undergo procedure and testing centres may be difficult to reach. There are very few centres, like SGPGIMS Lucknow, AIIMS New Delhi and Sir Gangaram Hospital, where procedure and testing is done at the same centre.
  • Travel restrictions mandates to search for a local centre for procedure and counselling and the transport of sample for testing to a reliable centre. Stepwise, it can be achieved in the following way:
    • Pregnancy confirmed by urine pregnancy test/ USG.
    • Helpline at CureSMA India and/ or E-OPD facilities/ Teleconsultation at reliable centres (SGPGIMS Lucknow, AIIMS New Delhi, Sir Gangaram Hospital, CMC Vellore, NIMS Hyderabad etc.).
    • Local centres offering CVS/ antenatal procedures helps in doing the procedure Transport of samples to reliable centres/ reliable private labs (Preferably the centre/ lab that did testing in the affected child in the same family).
    • Return back of results to the centre/ doctor who did the procedure for counselling and further action. Opinion through teleconsultation from the testing centre can also be sought in addition to counselling in case of any doubts.

Resource:

  1. Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy(SMA).Hum Genet.2002;111:477–500
  2. Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, Melki J. A frame-shift deletion in the survival motorneuron gene in Spanish spinal muscular atrophy patients. Nat Genet.1995;11:335–7.
  3. Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A,Dallapiccola B. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.Neurogenetics.2006;7:269–76.
  4. Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF,Lochmüller H. Prevalence, incidence and carrier frequency of 5q-linked spinal muscularatrophy-a literature review.Orphanet J Rare Dis.2017;12:124.
  5. Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Muller-Myhsok B,Schonling J, Zerres K. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet.1997;61:1102–11.
  6. Personal opinion and literature search by Dr Kausik Mandal.

Respiratory care is one of the mainstay management issues in children with SMA.

Why children with SMA have respiratory complications

Respiratory muscle function in SMA features very weak intercostal muscles and a relatively stronger diaphragm. The diaphragm is the primary muscle used for breathing in children with SMA type 1 or 2. In the first year of life the chest wall is very complia nt. Thus, the chest wall in children with SMA type 1 or 2 often appears collapsed and bell shaped because of a lack of opposition of the intercostal muscles against the function of the diaphragm the resulting chest wall deformities include a bell – shaped ch est and pectus excavatum. The compromised respiratory muscle function results in:

  • Impaired cough resulting in poor clearance of lower airway secretions;
  • Hypoventilation during sleep;
  • Chest wall and lung underdevelopment; and
  • Recurrent infections th at exacerbate muscle weakness and the integrity of the lung parenchyma.

The recommendations have been developed according to the above general principles with the goal of maintaining safety while providing timely, efficient and effective airway management

Homecare

The following recommendations are for routine care of all SMA patients (2, 3, and 4)

  1. If child is on routine inhalation therapy that should be continued at the same dosage
  2. There is no contraindication for the use of inhaled steroid therapy if they are already on it because of the pandemic (3, 4)
  3. Reliever inhaler therapy should be well stocked up; if spacer is being used then make sure a new or recent one is being used
  4. In COVID 19 children have what is called happy hypoxia, whe re the oxygen saturation’s may drop unexpectedly, without child showing any features of respiratory distress. (5, 6)
  5. Know your child’s normal /usual oxygen saturations. Till the pandemic is over monitor the oxygen saturation’s twice daily, even in absence of symptoms and fever (6 – 9)
  6. In case of fever monitor the oxygen saturations every 4 hours, more frequently if the child has any distress or cough (2, 9)

Pulse oximetry

Pulse oximetry is ubiquitously used for monitoring oxygenation. It forewarns about the presence of hypoxemia, pulse oximeters may lead to a quicker treatment of serious hypoxemia and possibly circumvent serious complications

Recommendations in SMA patients (1, 2, 5, 10)

  1. Do it twice a day morning and evening, keep chart
  2. Four hourly in the presence of fever and cough
  3. Deviations more than 10 percent of baseline values should be considered significant.
  4. Saturations persistently below that level requires immediate oxygen therapy till the child can be assessed.

PULSE oxime try is an important assess ment and monitoring tool for SMA types 1 and 2, be – cause the clinical presentation of respiratory distress is muted by the diffuse muscle weakness. Furthermore, the child with SMA type 1 may become visibly cyanotic before changes in respiratory rate and work of breathing. Often, during the early phase of an illness, a child with SMA type 1 or 2 may also be tachycardic. In SMA, an acute drop in pulse oximetry to

Secretion Mobilization and Clearance

  • Key to chronic management is discussion with the family regarding goals for care of their child and offering choices for care.
  • Chronic management requires teaching families techniques for supporting their child’s breathing
  • These techniques include metho ds for airway – secretion mobilization and clearance and respiratory support.
  • Secretion mobilization includes manual or mechanical chest physiotherapy with postural drainage.
  • Cough techniques include manual cough assistance and mechanical insufflation/exsuf flation with the Cough Assist (Respironics, Murrysville, PA).
  • The guideline for SMA type 1 is to perform airway clearance twice per day when the child is well, and for SMA type 2 our guideline is to perform airway clearance as needed when the child is well .
  • The cough assist machine should be used as often as needed. Children with SMA type 3 may need airway clearance postoperatively and with serious illness
  • Assisted coughing is a critical element of respiratory care for individuals with SMA and may be the only way they can cough and clear secretions.
  • Pressures should be high enough to mobilize secretions (eg , inhale and exhale pressures of at least 30 cm H2O and ideally up to 40 cm H2O).

The protocol used at the University of Wisconsin, and to be adapted for SMA patients is as follows :

  1. Cough Assist machine, 4 sets of 5 breaths, followed by oral suctioning of secretions
  2. Secretion mobilization with manual or mechanical chest physiotherapy
  3. Cough Assist machine, 4 sets of 5 breaths, and oral suctioning
  4. Postural drainage (Trendelenburg positioning) for 15 to 20 minutes as tolerated
  5. Cough Assist machine, 4 sets of 5 breaths and oral suctioning

Access to cough assist devices should be considered part of routine care of SMA children especially in the pandemic situation Three theories have been proposed to explain the improvement in respiratory status with respiratory assist devices and include resting chronically fatigued respiratory muscles, reversing microatelectasis, and altering the CO2 set point.

Home oxygen and Noninvasive ventilation (1,2,7,9) Recommendations

  • Patients already on home oxygenation and NIV should continue same
  • Any support needs to be stepped up during an inter current illness

Respiratory Support

The short – term goals of NIV include

  • Respiratory symptom relief,
  • Reduced work of breathing
  • Improved or stabilized gas exchange,
  • Optimal patient comfort,

The long – term goals of NIV include

  • Improving sleep duration and quality,
  • Maximizing quality of life,
  • Enhancing functional status, and
  • Prolonging survival.

In studies of individuals with neuromuscular weakness and chronic respiratory failure, implementation NIV results in improved PCO2 Usual indications for NIV at home include hypoventilation, as demo nstrated by decreased oxygen saturation by pulse oximetry and increased PCO2 or obstructive sleep apnea

Additional indications for NIV specific to SMA in the COVID 19 pandemic;

  • This includes respiratory failure during a viral respiratory infection (VRI).
  • Virus exacerbates SMA weakness and when combined with the associated copious respiratory secretion production,
  • Virus contributes to the risk of respiratory failure

Nebulisations

  • The current pandemic o f COVID 19 demands greater infection control precautions Nebulisers generate aerosol particles in the size of 1 – 5microns that can carry bacteria and viruses in the depths of the lung.The risk of infections transmission via droplet nuclei and aerosols may i ncrease during nebuliser treatment because of the potential to generate high volume of respiratory aerosols that may be propelled over a longer distance than that involved in natural dispersion pattern (2,3,4)
  • Nebulisers in pandemic COVID 19 infection has the potential to transmit viable SARS – COV2 VIRUS to potentially susceptible bystanders Based on available evidence WHO continues to recommend droplet and contact precautions for those people caring for COVID 19 PATIENTS .WHO continues to recommend airborn e precautions for circumstances and settings in which aerosol generating procedures and support treatment are performed according to risk assessment (3)

Nebulisers and infection transmission risk

There is some difference in opinion regarding the degree of risk from nebulisers as the aerosol generated from the device is from the medication fluid in the nebuliser chamber and not the patient One study has demonstrated aerosol stability of SARS COV – 2 but whether this is applicable to clinical situations outside laboratory conditions is unknown(4)

SCENARIO 1: IN A PATIENT WITH SMA 1.LIKELY MILD RESPIRATORY ILLNESS DUE TO ALLERGIES OR VIRAL INDUCED WHEEZE

  1. Check Spo2
  2. Salbutamol inhaler to be given via M DI 4 – 10 puffs ,with 15mins to 1,2 hr gap in between till symptoms resolve and SPO2 improves (more than 94%)
  3. Ipratropium to be given 3 doses
  4. Short course oral corticosteroids can be given
  5. NEBULISATION should be considered NEXT when the saturation’s are persistently less than 94% and worsening symptoms and altered mental state
  6. Give in a room where ventilation is good and carer should wear proper mask and move out and wait outside the room till nebulisation is over
  7. Elderly family members not to enter the room at all 8. Monitor the saturations during nebulisations

IF patient is sick enough to be admitted and needs Nebulisations then they should be shifted to a single room, and nebulisations administered .Healthcare worker, nurse and patient attendant should wear masks and goggles with face shields

SCENARIO 2; IN A PATIENT WITH SMA;LIKELY CHEST INFECTION /COULD BE COVID 19

If COVID 19 is suspected as per examination and well focused history that includes travel history and history of contact :

IF NEBULISATION IS REQUIRED THE FOLLOWING SHOULD BE MAINTAINED

  1. Patient should be in airborne infection isolation room ,preferably a negative pressure room should be created for all hospitals with isolation facilities
  2. ALL staff and healthcare workers shoul d wear full PPE that includes N95 masks and goggles ,gloves and gown and face shield
  3. All nonessential personnel should leave the room during nebulisation
  4. Some experts suggest not reentering the room for 2 – 3 hours following nebuliser administration

Sop for nebulisation in paediatric age group during covid 19 pandemic and henceforth to be considered good practice (5,6,&7)

  • Critically assess all patients and do not nebulise needlessly
  • Nebulisers which is being used for multiple patients with same tubing and mask should not be used
  • When nebulisation is being used in suspected COVID 19 patient it should not be attempted in ER unless isolation facilities and /or negative pressure room is available. Use MDI with salbutamnol till patient can be shifted
  • Full PPE (N95 mask,face shield, goggles ,gown ) to be used by healthcare workers and patient attendant ,during nebulisation of suspected COVID 19 patients and isolation procedures followed
  • Henceforth nebulisation should not be done as an OPD /ER procedure even in low risk patients as during community transmission phase the Paediatric patient may be asymptomatic but may easily transmit the infection to healthcare worker .MDI with spacers should be used where emergency relief of bronchospasm is needed. There is no evidence that nebulisation is better in delivering the drug in such patients
  • Always check the Spacer device of the patient and the mode of delivery ,use and whether proper washing of the device is being done before deciding that the child does not respond to the MDI given via spacer .Often lack of re sponse to MDI with spacers is due to improper use ,and does not necessitate switching over to home nebulisations except in select cases .
  • Where home nebulisations are being given in select cases ,the patient carer must be given appropriate training in the cleaning of the nebulisers on a regular basis

Resource :

  1. Schroth MK. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics . 2009;123 Suppl 4:S245 – S249. Doi:10.1542/peds.2008 – 2952K
  2. WHO Interim Guidance: Infection prevention and control during health care for probable or confirmedcases of novel coronavirus (ncov) infection (PDF) ( www.who.int/csr/disease/coronavirus_infections/ipcncovguidance_06May13.pdf ).
  3. https://www.who.int/news – room/commentaries/detail/modes – of – transmission – of – virus – causing – covid – 19 – implications – for – ipc – precaution – recommendations
  4. Minnesota Department of Health, Health Advisory: COVID – 19 Infection Prevention and Control inhealthcare (PDF) (www.health.state.mn.us/communities/ep/han/2020/mar13ic.pdf https://www.health.state.mn.us /diseases/coronavirus/hcp/aerosol.pdf
  5. Van Doremalen et al. “Aerosol and Surface Stability of SARS – cov – 2 as Compared with SARS – cov – 1.” N englj Med 2020 March DOI:10. 1056/nejmc2004973 (www.nejm.org/doi/full/10.1056/nejmc2004973).
  6. CDC: Interim Infection Prevention and Control Recommendations for Patients with Confirmed Coronavirus Disease 2019 (COVID – 19) or Persons Under Investigation for COVID – 19 in Healthcare Settings (www.cdc.gov/coronavirus/2019 – ncov/infection – control/control – re commendations.html).
  7. https://www.childrens.health.qld.gov.au/research/education/queensland – paediatric – emergency – care – education/optimus – bonus/
  8. Boast, A. And Munro, A., 2020. COVID – 19 And Children: What Do You Need To Know? . [online] Don`t Forget The Bubbles. Available at:
    <https://dontforgetthebubbles.com/covid – 19 – children – need – know/>[Accessed 16 March 2020].
  9. Jubran A. Pulse oximetry. Crit Care . 2015;19(1):272. Published 2015 Jul 16. Doi:10.1186/s13054 – 015 – 0984 – 8 10.Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology.2007;69(20):1931 – 1936 11. Personal opinion and literature search by Dr Sanjukta Dey

Monitoring of spinal deformity:

The various points which need to be kept in mind are as follows:

  1. These children need continuous monitoring of spinal deformity and it is well known that there is around 80% chance of development of scoliosis in SMA requiring surgery.
  2. X rays taken at regular interval is the standard of care, which is universally accepted.
  3. However, in this current situation of Covid 19 pandemic, these children should be monitored for clinical progression of spinal deformity. This can be best assessed by the ability of the non-walkers (wheelchair bound) to sit comfortably and maintaining an erect posture.
  4. If deterioration of the sitting balance occurs or the child becomes uncomfortable on prolonged sitting, suspect a progression of spinal deformity.
  5. Worsening of sitting comfort and tolerance should be taken up as a sign of progression of scoliosis or kyphosis, until and unless proved otherwise.
  6. The parents should also be on the lookout for increasing hump on the back. This can easily be picked up if the sitting child is viewed from the top, over his or her head -the prominence of the back, usually on one side is an important tip to assess the amount of spinal deformity.

Bracing

  • Bracing is commonly done for scoliosis in SMA kids. Obviously during the growing period of the child, they frequently outgrow their brace and hence this needs continuous adjustment.
  • Failure of such continuous adjustment leads to ill-fitting brace which might lead to pressure sores over the bony prominences.
  • Regular opinion from orthotist, preferably through sharing of pictures online should be done by the parents and care givers so that necessary brace adjustments could be achieved.

Surgery

Routine surgeries need to postponed during this period of pandemic. However, a condition requiring an urgent surgery, need to discussed with a spine surgeon as per need. Last, but not the least, it should be borne in mind that Covid 19 is unlikely to wean out into the oblivion in the recent future. Hence all measures of reassurance should be given to parents and care givers with the understanding that social distancing and lifestyle modifications, which are suggested by published guidelines, from time to time, should be translated into practice. This will ensure the huge societal need to overcome this pandemic in the true sense of the term.

Resources:

  1. Chhabra, H.S., et al., COVID-19: Current Knowledge and Best Practices for Orthopaedic Surgeons. Indian Journal of Orthopaedics, 2020.
  2. Wijngaarde, C.A., et al., Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy. Neurology, 2019.
    93(2): p. e149-e158.
  3. Basu, S., Impact of COVID-19 on spine surgery: How can we work towards evolving best practices.Indian Spine Journal, 2020.
    3(2): p. 129-130.

Introduction:

This document aims to provide interim guidance about the standards of physiotherapy management for SMA patients in home care setting as well as in Hospital care settings. The guidelines are for the physiotherapists, for the parents of Spinal Muscular Atrophy children and their caregivers, so that they can receive standard of care to combat their disabilities and also make them stay away from COVID 19 infection. In these current scenarios COVID 19 pandemic is continuing to make things difficult upon the people in our country and across the world for few months. So it is very important to understanding the fact that the children with disabilities and other special needs are now facing additional crisis as they are failing to receive conventional medical management due to various reasons brought about by the pandemic. As individuals with SMA often has difficulties performing the basic functions of life, such as walking, eating, swallowing , breathing , so that recommended standard of care of SMA is often complex and comprehensives, requiring the involvement of multi – disciplinary specialists, including Ped- neurologist, Ped – pulmonologist, Orthopedics, Clinical psychologist, Dietician – Nutritionist, Ped – physiotherapist, Occupational therapist, Orthotist and prosthetist. The role of Ped – Physiotherapist is such vital in the optimal functioning and management of patient with SMA .

ROLE OF PHYSIOTHERAPY

The focus of physiotherapy for SMA patients is to set up a multimodal approach to deal multiple symptoms as discuss earlier, prevention of infection is also very important part of therapeutic standards. Physiotherapist aim to optimize function by maintain muscle strength, improve muscle tone, maintain Full ROM of joints, prevent tightness, contracture and deformities due to muscular imbalance, restore body balance and control of equilibrium, improving fine motor skill to maintain independency in Activities in daily living as much as possible, and most important to maintain bronchial hygiene and optimum respiratory function .

Multi-modal physiotherapy approach:

SAFER ACCSES TO PHYSIOTHERAPY RESOURSES

Standard precautions refer to work practices that are applied to all patients receiving physiotherapy care in health facilities, regardless of their diagnosis or presumed infectious status so as to minimize the risk of transmission of infectious agents in all situations. Standard precautions minimize the likelihood of transmission of infectious agents between physiotherapist and patients, and from patient to patient.So therefore infection free, fall preventive and barrier free architecture in physiotherapy set – ups is highly recommended for SMA patients. [8],[1],[7]

HOSPITAL BASED RESOURSES RECOMENDATION

  • OUT PATIENT PHYSIOTHERAPY SERVICES
  • TIME SPECIFIC APPOINTMENT
  • ISOLATED ENTRY AND CORRIDOOR TO THE PHYSIOTHERAPIST STATION ONLY FOR SPECIALLY NEEDED CHILDREN
  • THERAPIST PEDIATRIC REHABILITATION UNIT SHOULD BE TOTALLY ISOLATED FROM COVID 19 OR HIGHLY CONTAGIOUS DISSEASE WARD
  • PHYSIOTHERAPIST AND ALL HEALCARE STAFF ASSOCIATED WITH THE PEDIATRIC REHAB UNIT MUST GO THROUGH REGULAR HEALTH MONITORING BY CHECKING BODY TEMPERATURE, RESPIRATORY RATE, HEART RATE, SPO2 AND DOCUMENTED THOUGHROLY.
  • NO ONE (PHYSIOTHERAPIST OR THE PATIENT) SHOULD ALLOW FROM CONTAINMENT ZONE AS DECLAIRED BY THE GOVERNMENT OF THE SPECIFIC STATE FOR THE PEDIATIC REHAB UNIT FOR THE SPECIAL NEE DED CHILD UNTIL NEW GOVRNMENT ORDER.
  • BARRIER FREE ARCHITCTURE AS WHEELCHAIR ACCSESSIBILTY LIKE RAMP AND LIFT MUST BE INCORPORATED SEPARATELY FOR ONLY FOR CHILDREN WITH DISABILITY
  • FLOORING SHOULD BE NON SLIPPERY AND TOILET FACILILTY MUST BE THERE AS REQU IRED FOR DISABLE PATIENTS.
  • ALL THE FURNITURES, THERAPEUTIC EQUIPMENTS MUST BE SANITIZE WITH DISINFECTANT LIKEISO PROPANOL 70% OR 1% SODIUM HYPOCHLORATE ACCORDING TO THE HUMAN INFECTION CONTROL PROTOCOL.
  • THERAPIST MUST WEAR PERSONAL PROTECTIVE EQUIPMENT IN ORDER AND GUIDELINE AND DISINFECTANT THEMSELVES AFTER EVERY CHILD SEEN.

PLAN FOR SAFE ACCESSESBILITY SHOWING IN FLOWCHART

RECOMMENDATION FOR PATIENT AND PHYSITHERAPIST

  • IN PATIENT PHYSIOTHERAPY SERVICES
  • PATIENT CAN GET NECESSARY PHYSIOTHERAPY IN IN- PATIENT DEPARTMENT AS IF WHEN REQUIRED.PHYSIOTHERAPIST ASSESS AND SET UP SPECIFIC PROTOCOL WITH CONSULTATION WITH RESPECTIVE PEDIATRIC CONSULTANT.
  • THERAPIST MUST WEAR PERSONAL PROTECTIVE EQUIPMENT DISINFECTANT THEMSELVES AFTER EVERY PATIENT SEEN.
  • PHYSIOTHERAPIST WORKING IN IN- PATIENT PEDIATRIC UNIT MUST DOFF PPE AND WEAR NEW PPE BEFORE ENTERING OUT PATIENT UNIT AND VICE VERSA.

PLAN FOR SAFE ACCESSESBILITY SHOWING IN FLOWCHART

Home- based physiotherapy resourses

  • SELF MONITORING BY PHYSIOTHERAPIST BY CHECKING BODY TEMPERATURE,RESPIRATORY RATE, HEART RATE, SPO2 AND DOCUMENTED THOROUGHLY.
  • IT’LL BE BETTER TO REEDUCATE PARENTS THE TECHNIQUES AND MEASURES.
  • SEPARATE ROOM FOR EXERCISE MUST BE PROVIDED.
  • ALL THE EXERCISE EQUIPMENT MUST BE CLEANED WITH SOAP WATER OR DISINFECTANT.
  • AFTER TREATMENT THERE MUST BE ESTABLISHED PROPER DOFFING AREA FOR PPE.
  • PHYSIOTHERAPIST MUST GUIDE PARENTSAND CAREGIVERS TO MAINTAIN PERSONAL HYGIENE AND ETIQUATE OF MASK, PPE WHILE DOING THERAPY AT HOME.

PLAN FOR SAFE ACCESSESBILITY SHOWING INFLOWCHART

RECOMMENDATION FOR PATIENT AND PHYSITHERAPIST

Physiotherapy with social distancing

If there is will there is a way,in these pandemic situation basic emphasis should be on to control spreading infection to save patient with comorbidities. The use of standard precautions is the primary strategy for minimizing the risk of transmission of microorganisms in health-care facilities. Standard precautions are to be followed for all patients, irrespective of their infection status. These are to be used to avoid contact with blood, body fluids, secretions and excretions regardless of whether contaminated grossly with blood or not; non-intact skin; and mucous membrane.One of the best option to get help from virtual media as video consultation or sharing of video with specific demonstration of exercise required by patient.

  • VIDEO CONSULTATION THROUGH APPROPRIATE NETWORK APPLICATION
  • SHARING EXERCISE REGIME ON VIDEO THROUGH SOCIAL MEDIA PLATFORM.
  • BY USING TRANSPERRENT PLASTIC/ FIBER GLASS BARRIER TO DEMONSTRATE EXERCISE TO PARENTS BY USING ARTIFICIAL MODEL.

“Physiotherapists assess, plan and implement rehabilitative programs that improve or restore human motor functions, maximize movement ability, relieve pain syndromes, and treat or prevent physical challenges associated with injuries, diseases and other impairment”. (WHO) Specific assessment for SMA (age specific) Using Assessment scale [9] HINE (Hammersmith Infantile Neurological Examination) – For 2 to 24 months of infants. CHOP INTEND (Children’s Hospital of Philadelphia Infant Test Of Neuro-Muscular Disorders – for 3months to 21 yrs.

Various aspects which need to be discussed are:

  • Conventional therapies
  • Chest physiotherapy
  • Breathing exercises
  • Requirement of equipments at home

CONCLUSION:

It is necessary to continue physiotherapy intervention even in COVID 19 pandemic situation, we must follow some regulation and maintain outmost hygiene and care toward SMA patients to protect them from infection ,not only COVID from other type of infection too. Here some recommendation stated which can be beneficial to develop standardized protocol of care for avoiding any infection and live their live without any fear.

Resource:

  1. MINISTRY OF HEALTH AND FAMILY WELFARE GOVRNMENT OF INDIA, COVID 19 Guidelines online publish http://WWW.mohfw.gov.in/lastassesed on 5th may 2020.
  2. Andrea Turolla, Giacomo rossettini, Antonello Viceconti,AlvisaPalese, Tommaso Geri,(2020): Musculoskeletal Physical therapy during the COVID 19 Pandemic is Telerehabilitation the answer?,APTA Journal,OXFORD UNIVERSITY published,April 17 ,2020.
  3. Jason R Falvey,Cindy Kraft,Diana Kornetti(2020): The Essential Role of Home- and Community- Based Physical Therapistsduring the COVID- 19 Pandemic,APTA Journalphysical therapy vol 100,issue 7,1058-1061
  4. Lefebvre S, Burglen L,et. Al(1995): Identification and characterization of a spinal Muscular atrophy-determining gene. Cell, 80: 155-65.
  5. Wang CH, Finkek RS, BertiniES,Schroth M, et. Al (2007):All participants of the international Conference on SMA Standard of Care In Spinal Muscular Atrophy. JChild Neurol.2007Aug; 22(8):1027-49.
  6. Yasser Saleem, Stacy Gropack, (1893) -Aquatic therapy for a child with type III spinal Muscular Atrophy in Physio and Occupational therapy in Pediatics Nov,2010 ,Vol.30(4).familial basis; in German], 3: 427-470.
  7. Hitesh lal, Deepak Kumar Sharma,Lalit Maini (2020): Out Patient Department practices in orthopaedics amidst COVID 19: The Evolving Model, J CLIN ORTHOP TRAUMA. JUL- AUG;(4):700-712,MAY 18, 2020.
  8. WHO interim recommendation on obligatory hand hygiene against transmission of COVID19,https://WWW.who.int/who-documents-detail/interim-recommendation-onobligatory-hand-hygiene-against-transmission of covid-19,available online on 5 may 2020.
  9. Karen Patterson, Annie DeMark Thompson (2018: The Role of Therapy in your childs Life. Being a part of the team!;Annual Cure SMA Conferenc; http:/WWW.curesma.org – annual conference 2018

Nutrition plays a very important role in the management of SMA.The more severe the type of SMA, the more likely to have nutrition related health issues, which includes difficulties with feeding, chewing, swallowing and reflux. These may lead to under nutrition as there are a lot of nutrients deficiencies. The other major issue related to nutrition is weight gain as there is less physical activity and movement. Regular diet counseling with a nutritionist is essential to overcome the feeding issues, weight management and to maintain the blood parameters as well. But in this current COVID-19 pandemic scenario it is difficult to get in touch with the health professionals on a regular basis. So a Nutrition guideline is very essential to manage the diet related issues at home.

Good dietary practices

Balanced diet is important for maintaining a good health. An ideal balanced diet provides carbohydrate, protein, fat,vitamins and minerals incorrect proportion.

  • Carbohydrates are energy giving food. Body needs energy for maintaining metabolic activity and for supporting physical work and growth.Sources -All types of cereals like Rice, flaked rice, puffed rice, atta, oats, dalia, bread, cornflakes, millets, joar, bajra.
  • Protein helps in growth and development. Dietary protein provides amino acids for the synthesis of body proteins and to replace the broken one. Protein is essential for the SMA patients to build up the muscle mass.Sources-Fish, chicken, egg, pulses, milk and milk product.
  • Fat-Dietary fat provides energy and facilitates the absorption of fat soluble vitamins. Since fat provides high energy value, little amount is needed. Sources-All type of cooking oil, butter, ghee.
  • Vitamins and minerals-These are required in a very small amount. Though all kind of vitamins and minerals are essential for our survival and movements of the muscles, but emphasis should be given on Calcium and vitamin D for the formation of strong bones.
  • Sources of Vitamin D are egg, sea fish, fortified breakfast cereal. The body is also able to produce some Vitamin D in the skin using sunlight.
  • Sources of calcium are milk and milk products, small fish, leafy vegetables.
  • Vitamin C and zinc are important for immunity. Sources are all kind of fruits and vegetables.
  • Diets rich in fiber are recommended to promote gastric motility and reduce constipation. Sources are green and leafy vegetables and fruits.
  • Adequate fluids are needed to maintain hydration and gastric motility.
  • Extra sugar and salt must be avoided to prevent obesity related complications like Diabetes and Hypertension.

Weight management

The requirement of calorie is different for different individual depending on their weight and physical activity. So the target will be to restrict the food items which cause weight gain. Such as,

  • Restrict the quantity of rice/roti and cooking oil.
  • Avoid fried/junk foods, ghee/ butter, sugar, honey, sweets, chocolates, colas, candies,packaged/canned foods.
  • Give whole fruit instead of fruit juice.
  • Read food label of all packaged food to avoid added sugar, trans fat, extra salt.

Rules to minimise reflux and other gastrointestinal complications

  • Easily digestible food is the key to avoid reflux. Low fat rice based products are the best.
  • Avoid irritating and sticky foods like chocolate, peppermint, spicy & deep fried foods,citrus fruit, cheese, cola etc.
  • Fasting is not encouraged
  • Give small meals throughout the day.
  • Constipation must be avoided to prevent indigestion. Green vegetables and fruits must be there in daily diet. Make sure to supply enough fluid for proper digestion.
  • Make foods soft and small pieces to avoid chewing/swallowing difficulties.

Management to avoid aspiration

  • In case of chance of aspiration stop giving thin/clear liquids like water and juices
  • Those who cannot sit properly, prop up the bed at 20-30 degree angle while feeding to avoid choking.
  • Give semisolid easily digestible food.

Use of supplements

In case of severe feeding difficulties supplements must be given either orally or through GI tube.It has been evident that AA diet (free form of amino acid supplement which can be absorbed directly by the body to build the muscles, without the extra effort to breakdown dietary protein) is effective to improve the health status of the type 1/ type 2 patients in Western countries.

Here we can suggest ‘Junior Peptamen’(semi-elemental, peptide based formula) to the children aged 1 to 13yrs for better nourishment. In severe condition of type 1 patients ‘Alfamino (amino acid formula) can be given along with mother’s milk. Though more evidence based research work are essential to establish the effectiveness of these supplements.

Resource:

1.  What is Amino Acid diet for SMA By: Mary Bodzo

2.  Diet and Spinal Muscular Atrophy Current guideline  from UK

3.  Nutritional Practices at a Glance: Spinal Muscular AtrophyType 1 Nutrition Survey Findings Rebecca Hurst Davis etal.
     J Child Neurol.2014 November;29(11):1467-1472.doi: 10.1177/0883073813503988

4.  Clinical Dietetics Manual by Indian Dietetic Association

5.  General Nutrition Guideline for SMA children Spinal Muscular Atrophy Clinical Research Center, Columbia University
Douglas M Sproule, M.D.

Children with spinal muscular atrophy are at a high risk for acquiring infection. Caregivers face a lot of challenges while caring for their children with spinal muscular atrophy in the present time. The main challenge involves a striking balance that has to be created and maintained between their ongoing therapies, social distancing, doctor visits and a constant fear about their child getting infected.

Priority 1: Care of the care givers

First and foremost, the caregivers should prevent themselves from getting infected.
The guidelines recommended by WHO (World Health Organisation) need to be followed strictly.

  1. To regularly clean your hands with alcohol-based hand rub or wash them with soap and water.
  2. Maintain safe distancing of at least one metre (3 feet) whenever you have to go out.
  3. Avoid participating in social gatherings, avoid crowded places.
  4. Avoid frequent touching of your face, nose and eyes.
  5. Self-isolate in the presence of minor symptoms like cough, headache, fever .
  6. Call the local health care authorities in case if you have symptoms.
  7. Follow respiratory hygiene practices – In case if you sneeze or cough cover your mouth and nose with a bent elbow or tissue .
  8. Keep yourself updated on the latest information about the pandemic from trusted sources like WHO / local / national health care authorities.
  9. Work from home if possible .
  10. Ensure the assistive devices like wheelchairs, orthosis, walkers are disinfected frequently .

Priority 2: General measures for the wellbeing of the child

  1. Visiting physiotherapists should ideally be discouraged and advice on phone/ video links would help.
  2. Stock the medications and ventilatory equipment supplies for a minimum period of 1month.
  3. Use online/ telephone / mobile based apps to deliver products like medicines/groceries to your home to reduce interpersonal contact.
  4. If your child is on treatment with Nusinersen(Spinraza) or is enrolled in a compassionate access programme, the ongoing treatment should never be stopped.
  5. Discuss with your doctors on safe continuation of the treatment for e.g.: If an oral drug is being given it can be provided for a longer duration such that frequent visits to the hospital are avoided.
  6. Make an attempt to know your ventilators/ BIPAP devices and also have a contact personnel for the same so that in case of device malfunctioning trouble shooting can be provided by the personnel.

Priority3: Measures to be taken for the mental wellbeing of the caregivers and the children

  1. Talk to the children about the current pandemic, need for social distancing and hand washing routines. Give time to yourself and to the children to adjust with their current routines like on line schooling and online physiotherapy sessions.
  2. Use teleconsultation services with Doctors and health care professionals in case of any illness or foraccess to medications and therapies.
  3. Self-care measures like connecting with friends and relatives virtually and seek help from friends/well wishers when required.
  4. Establish a careplan for your children and try arranging a backup caregiver in case you fall ill.
  5. Social distancing may amplify feelings of social isolation in children with SMA. So, give time for the children to express their feelings, make them feel connected with their peer groups through messages, voice chats and virtual platforms.

Priority 4: Measures to be taken when child is sick

When the child has symptoms such as sore throat / fever/ tachypnoea, less frequent symptoms like diarrhoea/ nausea immediately contact your local health authorities / paediatrician.

Resources:

  1. Organization WH. Disability considerations during the COVID-19 outbreak COVID-19. 2020;
  2. Solé G, Salort-Campana E, Pereon Y, et al. Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
    Rev Neurol (Paris). 2020;176(6):507-515. doi:10.1016/j.neurol.2020.04.004
  3. Campbell, V. A., Gilyard, J. A., Sinclair, L.,Sternberg, T., & Kailes, J. I. (2009).Preparing for and responding to pandemic influenza: Implications for people with disabilities.American Journal of Public Health,99(S2), S294-S300.
  4. National Council on Disability COVID-19 Letter to HHS OCR. (2020,March 18).Retrieved from:
    https://ncd.gov/publications/2020/ncd-covid-19-letter-hhs-ocr

During the pandemic, it is difficult to take children to hospital. However, a critically sick child needs to be evaluated and admitted without delay.

Protocol for Admission

Home-ventilated patients on CPAP or BiPAP and those with tracheostomy (with or without ventilation) who have suspected viral respiratory tract infection should be tested for coronavirus, and managed with airborne precautions until confirmed to be negative.

Approach to a sick child with either of the following:
(Adapted from resource1)

  • COVID-19 by RT-PCR positive
  • A suspected case in whom SARS-oV-2 virus test is inconclusive or
  • A severely ill patient whose RT-PCR results are awaited

Criteria for admission (Any ONE of the following criteria):

  • Respiratory distress
  • SpO2 < 92% on room air
  • Shock/ poor peripheral perfusion
  • Poor oral intake, especially in infants and young children
  • Lethargic, especially in infants and young children
  • Seizures/ encephalopathy

Children with Neuromuscular Diseases –including SMA require more intensive monitoring and early therapy.All children with SMA should be managed in a hospital setting irrespective of the clinical status – in lieu of poor respiratory reserve.

Mild Illness:

These Children Have No Respiratory Difficulty, Feeding Well, Have SpO2> 92%

  • The child would have to be isolated at home with hospital teleconsultationsat frequent intervals and continuous monitoring
  • Appropriate antibiotic may be prescribed, if respiratory rate is high.
  • Supportive care: Control of fever using paracetamol (10–15 mg/kg/ dose SOS/ q 4–6 hourly if required); avoid ibuprofen and other NSAIDs.
  • Ensure adequate hydration
  • Danger signs should be explained
  • The parent/ caregiver should take the necessary precautions, use appropriate PPE including a mask.

The parent/ caregiver should take the necessary precautions, use appropriate PPE including a mask

  • General Measures
  • Oxygen supplementation to maintain SpO2 > 92%.
  • Conservative fluid management is followed in mechanically ventilated patients (restrict fluid to 70–80% maintenance, if there is no evidence of hypovolemia).
  • Symptomatic treatment: Paracetamol for fever ((10–15 mg/kg/ dose SOS/ q 4–6 hourly if required); avoid ibuprofen and other NSAIDs
  • Blood culture sample should be sent at time of admission before starting anti-microbials.
  • Empirical antimicrobials (e.g., Ceftriaxone) within 1 h of admission in case of suspected sepsis and septic shock.
  • Oseltamivir may be considered after sending appropriate investigation if influenza is suspected.
  • Systemic corticosteroids are not recommended, unless indicated for any other reason.
  • MDI with spacer is preferred for administration of inhaled medication over nebulizati
    on, as nebulization is associated with increased risk of aerosolization.
  • Close monitoring for worsening clinical status is of paramount importance. Children who have significant distress may be managed in a HDU setting; those needing intubation and mechanical ventilation or other organ support should be managed in an ICU.

Respiratory Support

Low flow oxygen cannula is utilized with flows up to 1–2 L/min in infants, 2–4 L/min in young children and 4–6 L/min in older children and adolescents. Heated humidified high flow nasal cannula (HHHFNC) is not favoured as there are concerns of an increased aerosol formation.

Similarly use of NIV is discouraged in view of potential for aerosol generation, though clinical evidence is not definitive.

Similarly use of NIV is discouraged in view of potential for aerosol generation, though clinicalevidence is not definitive.

Airborne precautions (full PPE including N95 mask) must be maintained if child requires high-flow oxygen, non-invasive ventilation or nebulised therapy.Do not withhold these therapies ifindicated.

A medical mask should be secured on face of the child receiving oxygen therapy with nasalprong or HHHFNC, if the child tolerates.

Child should be monitored frequently including for SpO2, change in respiratory rate and heart rate, hemodynamic parameters, sensorium and urine output.

Respiratory support should be promptly hiked to mechanical ventilation if there is no benefit of NIV trial on respiratory rate, heart rate and respiratory efforts, or respiratory status worsens.

Criteria for ICU Admission

  • Requiring mechanical ventilation
  • Shock requiring vasopressor support
  • Worsening mental status

Indications for Intubation

  • Severe respiratory distress; exhaustion
  • Not able to maintain SpO2 > 90% on non-invasive oxygen supplementation
  • PaO2/FiO2 < 200 &PaO2/FiO2 < 300 with hypotension requiring vasopressorsupport &GCS < 8 with threatened airway & Decision to intubate should be taken on a case by casebasis based on the clinician’s discretion

How to Intubate

  • Pre-oxygenation with 100% FiO2 with non-rebreathing mask or nasal prongs.
  • Try to avoid bag and mask ventilation (risk of aerosol generation). If needed, can be used by connecting a viral filter.
  • The most skilled member of the team should be identified at the beginning of each shift for performing intubations.
  • If readily available, intubation should be performed using a video-laryngoscope.
  • Cuffed endotracheal tubes should be used to avoid peritubal leak and dissemination of secretions.
  • Rapid sequence intubation should be done.
  • During induction, monitor for hemodynamic instability and use fluids and vasopressors, if required.
  • Get X-ray chest to confirm correct position of tube.
  • After intubation, appropriate cleaning/disinfection of equipment and environment should be done

Management Strategies for ARDS

  • The general principles of management of child with ARDS apply to a child with COVID-19 related ARDS.
  • The principles include lung protective ventilation: appropriate high PEEP; and low tidal volume (4–6 ml/kg)
  • Children with refractory hypoxemia may benefit from ventilation in prone position. For more details, readers may refer to management protocols.

Care of Ventilated Patient

  • Fresh, preferably disposable ventilator circuit to be used for every new patient.
  • Use viral filter in expiratory limb of the circuit & Heat and moisture exchanger (HME) to be changed every
    48 h or when visibly soiled.
  • Use closed suctioning technique and avoid routine suctioning.
  • Appropriate sedation should be ensured and intermittent muscle relaxants may be used.
  • Chest compression and bag and mask ventilation should be started only after wearing PPE for aerosol transmission protection.
  • Minimize the number of people inside the room during high aerosol generating events like cardiopulm onary resuscitation.
  • One airway specialist, one nurse/doctor for chest compression and one nurse for administering medications are essential.
  • Other assistants may remain outside the room and may enter only if necessary, after donning full PPE.
  • Hand bagging needs to be avoided; if essential use a viral filter with the bag.

Resource:

1.  Sankar J, Dhochak N, Kabra SK, Lodha R. COVID-19 in Children: Clinical Approach and Management. Indian J Pediatr. 2020;87(6):433-442. doi:10.1007/s12098-020-03292- 1

2.  WHO -Clinical management of COVID-19 interim guidance 27 May 2020 accessed 27thJuly 2020.COVID-19: Clinical care.

3.  https://www.mohfw.gov.in/pdf/ClinicalManagementProtocolforCOVID19.pdf.

4.  Simonds AK, Hanak A, Chatwin M, et al. Evaluation of droplet dispersion during non-invasive ventilation, oxygen therapy, nebuliser treatment and chest physiotherapy in clinical practice: implications for management of pandemic influenza and other air-borne infections. Health Technol Assess. 2010;14:131–72.

5.  Pediatric Acute Lung Injury Consensus Conference Group. Pediatric acute respiratory distress syndrome: consensus recommendations from the pediatric acute lung injury consensus conference. PediatrCrit Care Med. 2015;16:428–39.

6.Kabra SK, Lodha R. Pediatric Intensive Care Protocols of AIIMS, 2nd ed. India: Indian J Pediatr; 2017

Children suffering with Spinal Muscular Atrophy, depending on the type of SMA, may have possible complications that include contractions of muscles and tendons, scoliosis, episodes of aspiration and difficulty in breathing. Such symptoms may lead to psychological comorbidities that may hamper their quality of life as well as that of their caregivers. Few examples are explained below:

  • Limitations on social activities-Both parents and patients do have to limit their ability to socialize and engage in activities outside their homesdue to weakness and fatigue, which results in the patient’s frustration. Fear of infection can also lead caregivers and parents of children with SMA to avoid social situations.
  • Social discomfort and stigma-Individuals with SMA experience social discomfort and stigma such as embarrassment when they cannot perform physical activities. Some patients describe their frustration due to the lack of accessible services for the differently abled, and frustration with being stereotyped and treated differently from others without a physical disability.
  • Loss of sleep and stress-Many parents have to be awoken multiple times during the night to help their child roll-over to prevent bedsores, or even to simply adjust the covers to prevent the child from getting too hot or cold.
  • Coming to terms with lost expectations –The parents of SMA patients deal with conflicting feelings of deep love for their child and the sadness brought to their life because of the child’s condition.
  • Anxiety/Fear – Anxiety is common among caregivers and patients. Frequently, this is due to internalized fear that their child might be exposed to a life – threatening respiratory infection. Some anxiety reported among individuals with SMA is related to worries about how to mitigate the day-to-
    day social and physical consequences of their condition.
  • Depression – People with SMA often work out ways to compensate for lost abilities. But
    as the disease progresses, they realize that this is not always possible. Frustration about the
    lack of treatment options can also be a factor.
  • Post-Traumatic Stress Disorder -Child’s diagnosis may often leave parents traumatized
    and so can the repeated respiratory infections requiring hospital admission.

The diagnostic journey itself may cause prolonged distress among the caregivers and patients. Supporting patients in meeting their psychological needs should become an objective of person- centered care for this population. In line with the International Classification of Functioning framework, well – being of children and adults with SMA may be improved by increasing their (satisfaction with) participation. Moreover, clinical assessment and management should focus on optimizing patients’ satisfaction with their basic psychological needs (autonomy, competence, relatedness), as this is strongly related to indices of psychological well-being.

Therefore, the following  guidelines are suggested:

1.  To approach a professional for expert input in analyzing, counseling and working on the psychological stressors.

2. To prioritize play and provide time slots for the child’s play activities.

3. Arranging playdates with mates for developing social skills, even if that is virtual.

4. Making every step count and cherishing every minute goal achieved with spontaneity can make a big difference.

5. Family dynamics can play a major role in nourishing the quality of life of the child and the caregivers, with expert professional’s advice and input.

6. Formulating a Reward system with professional guidance that can add value to the child’s functional level.

7. Developing self -help skills for developing the child’s self-esteem and self-efficacy focused physical therapies.

8. Encouraging participation in social activities.

9. Developing a sense of belongingness amongst family members by sharing achievements and recognizing the contributions of every member.

10.Prioritizing the child’s emotional awareness through labeling and bonding over the emotionin concern.

Resource:

Personal opinion collection from literature by:

  • Mrs. Shaireen Ali (Psychologist)
  • Ms. Shreyashee Dutta (Psychology intern)
  • Dr Arijit Chattopadhyay (Pediatric Neurologist)

Introduction

The interest in telemedicine and telehealth has increased recently due to technological advancement. This technology was first used by NASA to transmit physiological parameters from both spacecraft and spacesuit.

  1. With telemedicine it is easy to reach wider population with use of technology. For example, people from remote areas can get specialist help through video call. They can share their data electronically and also can get prescription online.
  2. The local health worker such as general physician or nurse can work as intermediate and help in getting vital information to get definitediagnosis. This will enables faster medical advice for needy patients which will avoid critical delay in required treatment.
  3. This is more than useful in country like India where specialist service is not available widely. In situation of rare diseases for instance spinal muscular atrophy, patients can reach out to a Pediatric neurologist with help of local paediatrician as their local support. This will increase the outreached of specialist to every corner of vast country like India and also enables timely action whenever it is needed. COVID-19 pandemic has hampered treatment for various other health condition as most of the focus is to stop this pandemic.
  4. All the health sources and infrastructure being used for this pandemic.
  5. Care of SMA patients is also getting compromised as there is a risk of catching infection while accessing health care by visiting clinicals or hospital. Routine visits to physiotherapist, neurologist and pulmonologists are getting delayed. Also, SMA patients can get serious COVID-19 infection if there is already a respiratory compromised. 6

Setting up Telemedicine and Helpline numbers

The first priority would be to give organise structure to the telemedicine module. This will require a framework within which telehealth can be delivered without difficulties. The helpline numbers can be useful as first point of contact for every patient of Spinal muscular atrophy.

This can be handled by person with basic knowledge of SMA. As many queries need not required medical attention and can be solved by the assistants like nurses or social workers. This will work as triage and then patients who needs medical attention can be forwarded to the tele OPD. For country like India there should be a zonal system where patient can be referred to respective zones, so that in near future when parents want to see specialist face to face they can travel easily in their zone. Initially we can set up five major zones namely North, South, East, West and Central. Each Zone can have subzone at state level or city level. This will be helpful to maintain a patient flow accordingly. Each Zonal or Sub-zonal OPD can be run by volunteer doctors on specific date and time. This will ensure uniformity across the nation and also helps organisation to deliver specific care to the remote patients.

Delivering a telehealth

To delivering a telehealth each patient need to get registered and enrol into the telehealth system. Inform and signed consent for the telehealth is a must. Also we encourage patient and their relatives to see physician whenever its possible. Tele health is not a substitute for a traditional patient care. In fact it is just add on to our usual patient health care. We can utilise the freely available health portals for video consultation by taking into consideration of privacy and data safety. Electronic notes can be maintained for future reference as per the guideline of Government of India.  (7)  Patient can access prescriptions by online mode either by e-mail or by messaging system.

Conclusion

This COVID-19 pandemic situation has put great challenges in front of health system. As focus remains to tackle pandemic
as effectively and as early as possible, but care of other health conditions should continue as usual. SMA patients are already in critical health and they need every attention for their fight against it. Use of telehealth can be a gamechanger for these
patients and will enable care, safety and timely treatment for them.

As of now, helpline numbers cited in the “CureSMA India ” website can be used to get connected to various doctors and telemedicine facilities.

Resources:

  1. Dasgupta A, Deb S. Telemedicine: A New Horizon in Public Health in India. Indian J Community Med Off Publ Indian AssocPrevSoc Med. 2008 Jan;33(1):3–8.
  2. Zhang X-Y, Zhang P. Telemedicine in clinical setting. ExpTher Med. 2016 Oct;12(4):2405–7.
  3. Kruse CS, Krowski N, Rodriguez B, Tran L, Vela J, Brooks M. Telehealth and patient satisfaction: a systematic review and narrative analysis. BMJ Open. 2017 Aug;7(8):e016242.
  4. Palacios Cruz M, Santos E, Velázquez Cervantes MA, León Juárez M. COVID-19, a worldwide public health emergency. Rev ClinEsp [Internet]. 2020 Apr 21 [cited 2020 Jul 24];Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173827/
  5. COVID-19 significantly impacts health services for noncommunicable diseases [Internet].[cited 2020 Jul 24]. Available from: https://www.who.int/news-room/detail/01-06-2020-covid-19-significantly-impacts-health-services-for-noncommunicable-diseases .
  6. Veerapandiyan A, Connolly AM, Finkel RS, Arya K, Mathews KD, Smith EC, et al.Spinal muscular atrophy care in the COVID‐19 pandemic era. Muscle Nerve [Internet]. 2020 May 3 [cited 2020 Jul 24];
    Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264534/
  7. Government of India: Telemedicine Practice Guidelines-Enabling Registered Medical Practitioners to Provide Healthcare Using Telemedicine. Dated 25/03/2020

Initiation and planning

  • Cure SMA India executive members and scientific advisors of the Cure SMA India

Collection, Collation, Editing data:

  • Dr Sanjukta Dey (Paediatric pulmonologist) , Dr Kausik Mandal (Medical Geneticist),  Dr Subhrojyoti Bhowmick (Clinical Research & Medication safety expert)

Introduction

  • Dr Kausik Mandal (Medical Geneticist)

Focus Area 1: Paediatric issues and vaccinations

  • Dr Priyanshu Mathur (Paediatric Rare Diseases expert)
  • Dr Neelu Shah Desai (Paediatric neurologist)

Focus Area 2: Genetic counselling and prenatal testing

  • Dr Ratna Dua Puri (Medical Genetics)
  • Dr Kausik Mandal (Medical Genetics)

Focus Area 3: Respiratory care

  • Dr Sanjukta Dey (Paediatric pulmonologist)
  • Dr Ankit Parakh (Paediatric pulmonologist)

Focus Area 4: Neurological issue

  • Dr Anaita Hegde (Paediatric neurologist)
  • Dr. Ann Agnes Mathew (Paediatric neurologist)

Focus Area 5: Spine and orthopaedics

  • Dr Saumyajit Basu (Spine Surgeon)
  • Dr Jayanth Sampath (Paediatric orthopedic)

Focus Area 6: Physiotherapy

  • Mr Shantanu Kumar De (Paediatric physiotherapist)
  • Dr.Shrutika Parab (Paediatric physiotherapist)

Focus Area 7: Safe practices for caregivers

  • Dr. Smilu Mohanlal (Paediatric neurologist)
  • Dr Subhrojyoti Bhowmick (Clinical Research and medication safety experts)

Focus Area 8: Dietary issues

  • Dr.Robert Antony (Paediatric surgeon)
  • Ms. S Maitranag (Nutritionist)

Focus Area 9: Hospital admission

  • Dr. IIin kinimi (Paediatric pulmonologist)

Focus Area 10:Medications for COVID-19

  • Dr Subhrojyoti Bhowmick (Clinical Research and medication safety expert)
  • Dr.Ramesh Konanki (Paediatric neurologist)

Focus Area 11: Telemedicine and helpline numbers

  • Dr (Prof) Sheffali Gulati (Paediatric Neurologist)
  • Dr Sandeep Patil (Paediatric neurologist)

Focus Area 12: Mental health issues

  • Dr Arijit Chattopadhyay (Paediatric neurologist)
  • Dr Renu Suthar (Pediatric Neurologist)

CureSMA Foundation of India members:

  • Ms Moumita Ghosh (Director Family Support)
  • Ms Alpana Sharma (Director Patient Advocacy)
  • Ms Archana Vashist Panda (Director Patient Advocacy)
  • Ms Razeena K (Director Patient Empowerment)
  • Ms Srilakshmi Nalam (Director Patient advocacy)

No matter what question, our team is here to help.

+91 7878551885

India

info@curesmaindia.org

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