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      Nutritional  Management  of  Children  with   Spinal  Muscular  Atrophy:  A  Toolkit           Nora  McCormick  RD,  CD   University  of  Wisconsin  Pediatric  Pulmonary  Center  Trainee   June  2015            


Table of  Contents  

  Background……………………………………………………..Page  2  

Overview  of  Basic  Nutritional  Needs………………...Page  3  

Nutritional  Assessment  and  Monitoring……………Page  7    

Laboratory Monitoring…………………………………….Page  11       Commonly  Encountered  Issues………………………..Page  12       Amino  Acid  Diet………………………………………………Page  16    

Additional Resources………………………………………Page  18       Works  Cited……………………………………………………Page  19       Appendix………………………………………………………..Page  20    



Nutritional  management  is  a  cornerstone  of  the   treatment  of  spinal  muscular  atrophy.  Although   interventions  may  vary  greatly  based  on  the  type  of   SMA  bring  treated,  experts  agree  that  proper  nutrition   can  greatly  improve  the  clinical  outcomes  for  children   with  this  condition1.      Adequate  nutrition  is  crucial  to  the  maintenance  of   muscle  mass  and  strength.  Furthermore,  children  with   this  condition  face  a  variety  of  feeding  challenges:   dysphagia,  problems  with  fatty  acid  metabolism,  and   overnutrition  are  just  a  few  examples.  The  management   of  tube  feedings  is  also  a  component  of  care  for  children   with  SMA  Type  I  and  sometimes  SMA  Type  II.     This  toolkit  is  a  reference  for  healthcare  providers,   particularly  dietitians,  who  wish  to  gain  a  basic   background  knowledge  regarding  the  nutritional   management  of  children  with  SMA.  Ideally,  an   experienced  pediatric  dietitian  is  a  part  of  the   interdisciplinary  team  caring  for  patients  with  this   disease.  However,  many  dietitians  do  not  receive   training  in  the  nutritional  care  of  children  with  SMA1.       A  review  of  current  guidelines,  recommendations,  and   clinical  experiences  was  conducted  and  synthesized,  to   improve  ease  of  access  to  crucial  information.    


Overview of  Basic  Nutritional  Needs  

Energy: The  energy  needs  of  children  with  SMA  are   lower  than  healthy  children  of  the  same  age  and  gender.     • Calorie  needs  are  calculated  based  on  the  height  of   the  child  in  centimeters.  The  range  of  7  –  14   calories  per  centimeter  is  typically  used   • Where  a  particular  child  with  SMA  falls  within  this   range  will  depend  on  several  factors,  including  type   and  severity,  need  for  respiratory  support,  muscle   tone,  level  of  activity,  and  ability  to  eat  orally2,3,4     Protein:  The  DRI  for  age  can  be  followed.     • Protein  needs  are  generally  in  the  range  of  1  –  2   grams  protein  per  kilogram2     Fat:  Children  with  SMA  do  not  metabolize  fatty  acids   normally.     • The  guidelines  for  fat  intake  are  based  on  clinical   experience  and  observation.  It  is  important  to   remember  that  the  stronger  a  child  is,  the  better  fat   is  tolerated   • For  children  under  1  year  of  age,  it  is  important  to   ensure  adequate  fat  in  the  diet  to  aid  in  brain   development  (approximately  45%  of  total  energy)   • Between  the  ages  of  1  and  2,  children  often  receive   20  –  30%  of  calories  from  fat   3  

• For children  over  2  years  of  age,  total  fat  typically   makes  up  10  -­‐  30%  of  total  energy   o Those  with  SMA  Type  1  usually  tolerate  diets   that  include  10  –  20%  of  calories  from  fat   o Children  with  SMA  Types  II  and  III  often   tolerate  diets  that  include  up  to  30%  of   calories  from  fat   • Essential  fatty  acids  (omega-­‐3  and  omega-­‐6)   should  make  up  5%  of  total  energy  in  order  to   prevent  essential  fatty  acid  deficiencies4,5     **For  more  information  regarding  the  secondary  fatty   acid  oxidation  disorder  that  is  common  in  children   with  SMA,  please  refer  to  the  1999  article  in  Annals  of   Neurology  by  Crawford,  et  al.  titled  “Abnormal  Fatty   Acid  Metabolism  in  Childhood  Spinal  Muscular   Atrophy”10     Fluid:  Children  with  SMA  generally  require  more  fluid   than  a  healthy  child  of  the  same  age  due  to  greater   insensible  losses.     • Type  I:  Approximately  10  –  35%  increased  fluid   needs  than  healthy  child  of  same  age   • Types  II  and  III:  Follow  the  DRI  for  age  or  use  the   Holliday-­‐Segar  method2,9   Carbohydrates:  Depending  on  the  severity  of  the   condition,  intake  recommendations  may  be  similar  to  a  


child of  the  same  age  and  gender  who  does  not  have   SMA.   • Since  children  with  SMA  Type  I  have  very  little   muscle  mass,  they  lack  the  ability  to  store  sufficient   glycogen.  After  age  1,  they  often  need  a  diet  that   contains  70  –  80%  of  calories  from  carbohydrate  to   prevent  low  blood  glucose  levels   • Carbohydrates  should  make  up  45  –  65%  of  total   energy  intake  in  children  with  SMA  Type  II  and  III4     Fiber:  As  a  general  rule,  the  child’s  age  plus  5  equals  the   recommended  grams  of  fiber  per  day.  Importantly,  fiber   intake  needs  to  be  modified  based  on  individual   tolerance6.     Vitamins  and  Minerals:  The  DRI  for  age  can  be  followed.     • Even  though  children  with  SMA  have  lower  energy   needs,  their  needs  for  vitamins  and  minerals  is   estimated  to  be  similar  to  children  of  the  same  age   and  gender  without  SMA   • In  practice,  it  has  been  noted  that  children  with   SMA  often  require  additional  supplementation  of   vitamin  D  to  reach  appropriate  serum  levels.   Calcium  intake  should  also  be  assessed  and   supplemented  if  necessary3    


**For more  information  regarding  the  general  nutritional   requirements  of  children  with  SMA,  please  follow  this   link:   Then  click  on  the  Nutrition  tab  followed  by  “General   Nutrition  Guidelines  for  SMA  Children”  


Nutritional Assessment  and  Monitoring    

Physical Assessment:    

• It is  important  to  establish  a  baseline  weight,   length  or  height,  and  weight-­‐for-­‐length  or  BMI  so   that  trends  can  be  monitored   o A  nutrition-­‐focused  physical  exam  is  also   especially  important  for  children  with  SMA,   since  weight-­‐for-­‐length  and  BMI  alone  cannot   reliably  predict  nutritional  status3   o Look  at  hair,  skin,  nails,  and  fat  stores  when   performing  a  physical  exam.  Feel  the  body  for   any  protruding  bones   o Be  sure  to  determine  if  child  is  at  risk  for   developing  pressure  sores     Dietary  Assessment:   • Specifics  will  depend  on  mode  of  nutrition.  In   general,  it  is  necessary  to  obtain  a  “typical  day”  diet   recall  or  analyze  a  three-­‐day  food  record   o Macro-­‐  and  micronutrient  intake  should  be   analyzed  and  assessed   o If  the  child  is  fed  enterally,  be  sure  to  inquire   about  tube  feeding  volume  and  rate,  in   addition  to  formula  and  additives4   o If  the  child  eats  orally,  be  sure  to  inquire  about   any  trouble  chewing,  swallowing,  choking,  or   7  

gagging. Also  ask  how  long  it  takes  the  child  to   complete  a  meal  or  snack.  Determine  if  there   are  any  foods  the  child  avoids  or  used  to  be   able  to  eat,  but  has  trouble  eating  now3   o Inquire  about  stooling  –  how  often  the  child   stools,  and  if  he  or  she  has  any  trouble  passing   stools.  When  children  become  constipated,   they  can  get  full  easily  and  may  not  want  to  eat   or  may  have  trouble  tolerating  tube  feedings   • It  is  important  to  analyze  adequacy  of  intake,  and   make  recommendations  accordingly,  in  order  to   prevent  under-­‐  or  overnutrition   o Children  with  SMA  Type  I  and  severe  Type  II   tend  to  be  prone  to  undernutrition;  children   with  less  severe  Type  II  and  Type  III  may   struggle  with  overnutrition7     o As  children  with  SMA  get  older,  their  lean   body  mass  decreases.  This  may  result  in  over-­‐ nutrition  if  energy  intake  is  not  adjusted4     **For  more  information  regarding  how  to  prevent  under-­‐   or  overnutrition,  please  follow  this  link:­‐ content/uploads/2012/11/fsma_nutrition_brochure_web .pdf.  Refer  to  pages  25  -­‐  26.         8  

Rate of  Weight  Gain:   • Weight  gain  per  day  should  be  monitored  closely  at   each  visit   • Children  with  SMA  should  have  a  slower  weight   gain  velocity  than  a  healthy  child  of  the  same  age   • It  is  more  important  to  look  at  weight  trends  on  the   growth  chart  than  to  focus  on  specific  numbers     Weight  for  Length  or  BMI:     • Due  to  their  lower  amounts  of  lean  body  mass,   children  with  SMA  should  ideally  fall  somewhere   within  the  3rd  to  25th  percentile  on  the  growth  chart   for  BMI  or  weight  for  length     • However,  some  children  with  SMA  are  below  the   3rd  percentile  but  look  well-­‐nourished  on  exam   o Use  weight  for  length  until  24  months,  and   BMI  thereafter  

Length  or  Height:  

• It is  important  that  length-­‐for-­‐age  or  height-­‐for-­‐age   does  not  fall  below  the  3rd  percentile;  falling  below   this  threshold  may  indicate  suboptimal  nutritional   status   • Length  or  height  may  be  difficult  to  measure  in   children  with  SMA  using  standard  methods.  Arm   span,  arm  length,  or  tibia  length  may  be  used  to   approximate  length  or  height3  


Head Circumference:   • Should  be  measured  on  children  up  until  age  3   • Should  fall  between  the  5th  and  95th  percentile7     **For  more  information  regarding  the  monitoring   nutrition  and  growth,  please  follow  this  link:­‐ content/uploads/2012/11/fsma_nutrition_brochure_web .pdf.  Refer  to  pages  8  –  12.      


Laboratory Monitoring    

There is  not  currently  a  consensus  regarding  which   particular  biochemical  labs  should  be  used  to  assess   nutritional  status8.  However,  experienced  clinicians   recommend  that  the  following  labs  be  assessed  on  a   regular  basis,  at  least  once  per  year  and  more   frequently  as  needed:3,4   • Serum  proteins,  including  prealbumin   • Plasma  Quantitative  Amino  Acid  analysis  (PQAA)   • 25-­‐hydroxy  vitamin  D   • Fatty  acid  panel  –  Triene:Tetraene  ratio  as  well  as   individual  levels  of  linoleic  and  linolenic  acid   • Carnitine  –  Total,  free,  esterified  carnitine   • Comprehensive  iron  panel  (hemoglobin,   hematocrit,  MCV,  ferritin,  iron,  iron  binding   capacity)       Additional  lab  work  that  may  be  recommended  includes   but  is  not  limited  to:   • Liver  function  tests   • Complete  blood  count   • Comprehensive  metabolic  panel     • Dual  X-­‐ray  Absorptiometry  (DXA)  scan    


Commonly Encountered  Issues     Gastrointestinal  &  Feeding  Issues:  Delayed  gastric   emptying,  constipation,  GERD,  bloating  and  abdominal   distention,  dysphagia.   • Constipation:  may  try  prune  juice,  magnesium   supplementation,  increased  fluid  and/or  fiber   o Children  with  SMA  do  not  always  respond  to   typical  constipation  management  strategies   due  to  reduced  muscle  strength.   Pharmacotherapy  may  be  indicated   • Feeding  intolerance:  Large  volumes  of  formula  are   not  typically  tolerated.  Also,  children  with  SMA   may  display  atypical  symptoms  of  intolerance   o Continuous  feeds  (often  overnight)  combined   with  bolus  feeds  of  modest  volume  are   commonly  used   o Symptoms  to  watch  for  include  increased   heart  rate,  sweating,  and  changes  in   respiratory  rate   • Chewing  and  swallowing  issues:  Decreased  muscle   tone  may  result  in  trouble  chewing  and  swallowing   and/or  concern  for  aspiration   o These  issues  may  need  to  be  assessed  by  a   feeding  specialist  such  as  a  speech  pathologist   o Modified  textures  and/or  supplemental  tube   feeds  may  be  required1,2,3  


• Reflux:   o Children  with  SMA  who  have  a  g-­‐tube  receive   a  Nissen  fundoplication  to  lessen  reflux  and  to   prevent  aspiration  pneumonia   o Other  management  strategies  include  keeping   the  volume  of  bolus  feeds  modest,  avoiding   irritating  foods,  and  propping  children  who   are  unable  to  sit  up  at  a  20  –  30  degree  incline   after  feedings1,7     **For  more  information  on  commonly  encountered   feeding  issues  in  children  with  SMA,  please  follow  this   link:­‐ content/uploads/2012/11/fsma_nutrition_brochure_web .pdf.  Refer  to  pages  7  and  19  –  24.     Fat  Malabsorption:   • A  lower  fat  diet  and  small,  frequent  meals  may  be   better  tolerated  by  children  (over  age  2)  with  SMA   who  eat  orally   • Carnitine  supplementation  may  be  considered  to   aid  in  fat  metabolism  in  children  with  SMA  type  I   and  sometimes  Type  II3           13  

Adjusting enteral  feeds:   • Feeds  should  be  adjusted  gradually.  Begin  by   increasing  or  decreasing  calories  by  approximately   5  -­‐10%  per  day   • When  using  elemental  formulas,  children  may  need   up  to  20%  more  protein  than  the  DRI1   • The  child  may  need  increased  protein  without   extra  calories     o May  use  amino  acid  powder  such  as  Nutricia®   Complete  Amino  Acid  mix     o May  use  other  elemental  formula  options   (Vivonex®  T.E.N.,  Vivonex®  RTF,  or  Vivonex®   Plus)  instead  of,  or  in  addition  to,  standard   elemental  formulas     Inability  to  Fast:  Generally,  children  with  SMA  Type  I,  or   any  infant  under  1  year  with  SMA,  should  not  be   allowed  to  fast  for  more  than  6  hours  because  of  their   insufficient  glycogen  stores.  Children  with  SMA  Types  II   and  III  should  not  fast  for  more  than  8-­‐12  hours   • Enteral  and  oral  feeding  schedules  should  be   recommended  keeping  fasting  restrictions  in  mind   • Parenteral  nutrition  may  be  required  in  illness  or   in  surgical  situations  where  oral/enteral  intake  is   not  allowed  or  not  possible    


**For more  information  regarding  nutrition  during   illness  for  children  with  SMA,  please  follow  this  link:­‐Nutrition-­‐ Guidelines-­‐in-­‐SMA-­‐Nutrition-­‐Handout.pdf.       Letter  of  Medical  Necessity:  Refer  to  the  Appendix  for  a   sample  letter  of  medical  necessity   • May  have  to  be  written  and  faxed  to  durable   medical  equipment  company  for  specialty  formula,   supplemental  amino  acid  powder  and  other   specialized  nutritional  requirements   • Social  work,  case  management,  or  care   coordination  services  can  often  assist  with  writing   a  letter  of  medical  necessity     **For  more  information  regarding  the  management  of   commonly  encountered  nutritional  issues  in  children  with   SMA,  please  follow  this  link: l          


Amino Acid  Diet    

Some families  choose  to  provide  an  elemental  amino   acid-­‐based  diet  to  their  child  with  SMA  Type  I  and   occasionally  SMA  Type  II.  This  diet  does  not  have  a   substantial  amount  of  scientific  evidence  to  back  its   effectiveness,  but  it  is  important  to  be  aware  of  and   understand  it  given  its  popularity  in  the  SMA   community.  Many  parents  believe  this  diet  improves  the   respiratory  health  of  their  children.  Here  are  the  basics:   • Cow’s  milk  and  soy-­‐based  formulas  are  eliminated   • Elemental  formulas  are  typically  used  as  the  basis   for  the  diet,  along  with  additives  such  as   Pedialyte®,  fruit  juice,  human  milk,  or  dairy-­‐free   and  soy-­‐free  beverages.  Although  human  milk   contains  intact  proteins,  it  is  often  very  well   tolerated  in  children  of  all  ages  and  with  all  types  of   SMA   • Supplements  such  as  carnitine,  coenzyme  Q10,   antioxidants,  probiotics,  and  B-­‐vitamins  are  often   included   • Protein  remains  in  the  range  of  1-­‐2  grams  per   kilogram  body  weight.  Protein  sources  include   elemental  formula  and  amino  acid  powders   • Carbohydrates  make  up  the  majority  of  calories.   Sources  include  elemental  formula  and  additives   such  as  fruit  juice,  fruit  and  vegetable  purees,  and   dairy-­‐free/soy-­‐free  beverages  


• Fat is  variable  depending  on  age  and  tolerance.   Elemental  formulas  may  be  low  in  fat,  so   alternative  sources  include  safflower  oil,  evening   primrose  oil,  flax  oil,  walnut  oil,  omega  3-­‐6-­‐9   blends,  mashed  avocado,  and  omega-­‐3  fatty  acid   supplements.  Be  aware  that  avocado  does  not   contain  adequate  amounts  of  omega-­‐3  and  omega-­‐ 6  fatty  acids  when  it  is  used  as  the  sole  source  of  fat   • Commonly  used  formulas  include  Tolerex®  and   Vivonex®  Pediatric   o Tolerex®  contains  1.3%  kilocalories  from  fat  –   children  will  require  additional  sources  of   omega-­‐3  and  omega-­‐6  fatty  acids   o Vivonex®  Pediatric  contains  25%  kilocalories   from  fat  –  children  may  not  require  additional   sources  of  fat5   • If  children  remain  on  the  amino  acid  diet  long-­‐ term,  they  will  need  to  be  monitored  for  issues   related  to  the  high  concentration  of  carbohydrates   contained  in  the  diet,  such  as  blood  sugar  levels,   triglycerides,  and  liver  enzymes4     **Please  visit  for  an  example   of  an  informational  website  that  families  might  visit  for   more  information  about  the  amino  acid  diet.  



Additional Resources     Cure  SMA  –     Muscular  Dystrophy  Association  -­‐     SMA  Foundation  -­‐     Fight  SMA  -­‐     Essential  Fatty  Acid  Panel:  Mayo  Clinic  Interpretive   Handbook  -­‐ e-­‐guide/index.html?alpha=F&unit_code=82426                      


Works Cited    

1. Sproule  D.  Living  with  SMA:  nutritional  care.  Columbia  University  Spinal   Muscular  Atrophy  Clinical  Research  Center  Web  site.  n.d.  Available  at:­‐Nutrition-­‐Guidelines-­‐in-­‐SMA-­‐ Nutrition-­‐Handout.pdf.  Accessed  May  6,  2015.   2.  Godshall  B,  Wong  B.  Spinal  muscular  atrophy:  an  overview  of  disease  and   nutrition.  PNPG  Building  Blocks  for  Life.  35:1-­‐4.  Winter  2012.     3.  Seffrood  E,  Schroth  M.  Nutrition  for  orally  fed  children  with  spinal   muscular  atrophy.  PNPG  Building  Blocks  for  Life.  35:5-­‐7.  Winter  2012.     4.  Davis  RH,  Swoboda  KJ.  Nutrition  for  enterally  fed  children  with  spinal   muscular  atrophy.  PNPG  Building  Blocks  for  Life.  35:8-­‐14.  Winter  2012.   5.  Marcus  M.  Overview  on  the  principles,  implementation,  and  management  of   the  SMA  amino  acid  diet  and  common  complementary  therapies  in  SMA   nutrition.  PNPG  Building  Blocks  for  Life.  35:15-­‐17.  Winter  2012.   6.  Swoboda  KJ,  Wiebke  G.  General  Nutrition  Guidelines  for  SMA  Children.   University  of  Utah  School  of  Medicine  Pediatric  Muscle  Disorders  Research   Program  Web  site.  2007.  Available  at:  Accessed  May  6,  2015.   7.  Godshall  B,  Hurst  R,  Marcus  M,  Mason  T,  Meguiar  A,  Rioch  K,  Rizzo  C,   Schroth  M,  Seffrood  E,  Shish  J,  Swoboda,  K,  Wolff  J,  Wong  B.  Nutrition  Basics:   Fostering  Health  and  Growth  for  Spinal  Muscular  Atrophy.  Elk  Village,  IL:   Families  of  Spinal  Muscular  Atrophy;  2011.   8.  Wang  CH,  Finkel  RS,  Bertini  ES,  Schroth  M,  Simonds  A,  Wong  B,  Aloysius  A,   Morrison  L,  Main  M,  Crawford  TO,  Trela  A.  Consensus  statement  for  standard   of  care  in  spinal  muscular  atrophy.  J  Child  Neurol.  2007;22(8):1027-­‐49.     9.  Holliday  MA  and  Segar  WE.  The  maintenance  need  for  water  in  parenteral   fluid  therapy.  Pediatrics  1957;19;  pg  823-­‐832.   10.  Crawford  TO,  Sladky  JT,  Hurko  O,  Besner-­‐Johnston  A,  Kelley  RI.   Ann  Neurol.  1999;45(3):337-­‐43.  




Date   Name:     Sex:     DOB:   Prescriber:       Problem  List:  (EXAMPLES  WITH  ICD-­‐  9  and  10  CODES)   Spinal  muscular  atrophy  (ICD  9  Code  335.0  and  ICD  10  Code  G12.9)   Dysphagia  (ICD  9  Code  787.20  and  ICD  10  Code  R13.10)   Gastrostomy  Tube  (ICD  9  Code  V44.1  and  ICD  10  Code  Z93.1)   Fatty  acid  oxidation  disorder  (ICD  9  Code  277.85  and  ICD  10  Code  E71.318)     Anthropometric  Data  (Include  2-­‐3  weights  and  heights)     Calorie  needs:  example  700  kcal/day  (include  kcals/kg  and  kcals/cm)     Formula:  examples  include  human  donor  milk,  Vivonex  Pediatric,  Tolerex,  Nutricia   Complete  Amino  Acid  mix   Formula  amount  goals:  20  ounces  per  day,  1  packet  per  day   Method  for  formula  administration:  g-­‐tube  with  bolus  and  continuous  feedings,  j-­‐ tube  with  continuous  feedings   Additional  oral  diet:  might  read  100%  of  needs  via  enteral  feeding  tube  OR  oral   intake  supplies  %  of  calorie  intake  **  Keep  in  mind,  insurance  companies  will  often   not  cover  enteral  formula  if  it  doesn’t  comprise  >50%  of  calorie  needs     Rational:   For  human  milk:  X  ounces  of  human  breast  milk  is  medically  necessary  for  this   patient  on  a  daily  basis.  It  provides  adequate  calories,  an  easily  digestible  source  of   protein  and  essential  fatty  acids.  Children  with  SMA  have  a  problem  with  fatty  acid   metabolism  but  are  able  to  tolerate  the  fat  found  in  breast  milk.  This  patient  has   been  unable  to  gain  weight  without  the  addition  of  breast  milk  to  diet  (show   evidence  with  weights  and  literature  if  needed).     For  an  amino  acid  based  formula:  X  formula  is  medically  necessary  for  this  patient.   Children  with  SMA  have  a  problem  with  fatty  acid  metabolism  and  need  to  follow  a   low  fat  diet.  This  formula  provides  less  fat  than  a  traditional  formula.  They  also  have   problems  with  delayed  gastric  emptying  and  need  proteins  in  the  form  of  free  amino   acids  since  they  are  easily  absorbed.    


For an  amino  acid  supplement:  X  is  medically  necessary  for  this  patient.  Children   with  SMA  have  very  low  calorie  needs  but  need  adequate  protein.  This  provides  the   needed  protein  but  without  the  addition  of  excess  calories.     If  you  have  any  questions,  please  contact  my  office  at    (phone).     Sincerely,   MD  Signature    


Nutritional Management of Children with SMA: A Toolkit  
Nutritional Management of Children with SMA: A Toolkit