A 13/12 month old who presented to us with respiratory distress + developmental delay and Hx of 2 respiratory arrests.

2. Objectives
 Case presentation.
 Brief review of the topic.
 Review of literature – ethical issues
surrounding the case

3. Case presentation
• T.A. , 13/12 female
PC
 Respiratory distress + uncontrolled
sputum production

4. HPC
2 weeks ago: feeding problems / vomiting after feeding + increased sputum production.
-Sputum yellow in colour and with foul smell
- GP , Px Hyoscine patch.
Next day:
-Sputum production worse and continues.
2nd day (23/Jan/13):
-Baby has an episode “funny turn”: ???
-Perioral Cyanosis
-No jerking or limb movement
-Rolling back of eyes
-> 5 mins
-Difficulties in breathing

5. HPC
(23/Jan/13) Taken by ambulance to Eastbourne hospital: on
Eastbourne A&E:
-Difficulties in breathing
-Yellowish secretions
-Desaturating O2 50%
-No bradycardia

6. HPC
Any thoughts??? Any questions ??
..
No fever
No coryza symptoms
Immunisation up to date
No foreign travel / visitors
No family member with same symptoms

7. PMH
Pregnancy : normal , no drugs taken , antenatal ok
Perinatal: normal vaginal, no complications.
Delivery: no complications, 3.09 kg
Postnatal: no complications.
Infancy: tired and choked while feeding at 2/12. Breastfed until 6/12
Development:
 Not able to raise/hold head at 2/12
 Able to track for objects and smiled at 3/12
 Not able to crawl 6/12 or sit 6/12
 Not able to stand 9/12 or walk
 Good palmar grasp 6/12 but no transfer of objects 7/12

8. PMH
Immunizations: up to date.
Surgical Hx: none
Medical Hx:
 at 10 /12 , NG tube for feeding, reviewed at GOSH
 Admitted at Eastbourne Hospital with respiratory distress
 2 respiratory arrests
 Px: Augmentin IV, Oxygen , NS nebs , glycopyrrolate , PPV Bi PAP , IV fluids 100
mls/kg/day , Physiotherapy.
 Transfer to Royal Alexandra Hospital
Med: nil reg
Allergies: none known.

9. FH
-First child
-African descent
-No one in the family with similar symptoms.
-No Hx of consanguinity
-Father: HBP
-Mother: HBP
SH
-No problems at home reported.
-No recent travel
-No pets

10. S/R
-General: looking poorly for last 4 days, feeding ok and
drinking ok , despite vomiting.
-ENT: (-)
-GI: with NG tube since 10/12, vomiting after feeds 2 weeks
ago.
-RS: respiratory distress + 2 respiratory arrests while in
Eastbourne hospital
-CVS: Tachycardia while in EDH
-GUS: (-)
-NS: (-)
-MSS: floppy weak limbs, abnormal posture of lower limbs
-SKIN: (-)

11. O/E
-General: alert , cooing and laughing , temp (N) weak crying.
Abnormal posture, no facial asymmetries or dysmorphic
features.
-RS: stridor & crackles bilateral , subcostal recession, RR 45
-CVS: (-) no cyanosis, no clubbing, no SOB, no murmurs. HR 150
-ENT: NG tube in place.
-Eyes: (-)
-NS: (-)
-MSS: weakness and floppy lower limbs.
-NEURO: grasp reflex (+) , head lag (-) , ventral suspension (-)
, Moro (-)
-SKIN: (-)

12. Differentials
????
- Congenital Muscular dystrophy
- Myasthenia gravis
-Polio
-Carbohydrate metabolic disorders (GSD’s)
+
-Broncoaspiration pneumonia
-Viral upper respiratory infection

13. Diagnosis
Problems:
-SMA type 1
-Bronchiolitis
*Key points to reach diagnosis: progression
(chronic), associated symptoms and nature of symptoms.

14. Investigations
????
-Bloods: FBC, ABG’s, CRP, ESR, U&E’s, LFT
-CPK
-Dip stick Urine
-Throat swab
-CXR
-ECG
-EMG / Nerve conduction
-Genetic molecular testing

15. Management
- Fluids
- Antibiotics IV
- Assisted ventilation
- Physiotherapy
- Vital signs monitoring

16. Spinal Muscular Atrophy
General points
 Genetic disease
 Causes muscle weakness and progressive loss of
movement
 There are 4 types

17. Spinal Muscular Atrophy
Presentation
 Muscle weakness and wasting
 Preserved mental function and intelligence
 Lower motor neurone signs:
 Flaccid weakness (muscles soft and floppy)
 Hypotonia
 Reduced or absent tendon reflexes
 Normal or absent plantar reflexes
 Muscle fasciculation
 Muscle atrophy

18. Spinal Muscular Atrophy
Presentation
 Feeding well few weeks post-natal
 Early sign of a tiring infant that doesn't finish feeds
 Fasciculation of the tongue
 Symmetrical proximal weakness

19. Spinal Muscular Atrophy
Classification
International SMA consortium:
SMA TYPE 1 TYPE 2 TYPE 3
Age <6 months 6-18 months >18 months
Features -Severe form -Developmental delay -Mild
-Muscle weakness ++ -Some might crawl -Slowly progressive
-Hypotonia -Some might stand but -Proximal weakness
-Poor swallow reflexes then can’t -Difficulty with
-Floppy infant -Pseudohyperthrophy complex motor skills
-Respiratory failure of gastroctnemius -Gastrocnemius
-No affected brain muscle pseudohypertrophy
-No affected facial muscles -Respiratory failure -Swallowing problems
later in life
Morbidity/ 95% die < 18 months Can survive 20’s Normal lifespan
Mortality Median 7 moths

20. Spinal Muscular Atrophy
Epidemiology
 Is the second most common lethal autosomal recessive
disease in Caucasians1
 In the UK, carrier frequency case per 60-80,000 individuals2
 SMA type 2 most common
1Wirth B; An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal
recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228-37.
2 Tsao B & Stojic AS; Spinal muscular atrophy. emedicine, January 2009

21. Spinal Muscular Atrophy
Pathophysiology
 Autosomic recessive disorder - affected individuals
carry both.
 Mutation SMN gene on 5q13
 95% of infants type 1 SMA homozygously deleted
for exon 7 SMN 1 gene.

22. Spinal Muscular Atrophy
Pathophysiology
 Loss of this gene – loss of function in proteins for
RNA processing
 Toxic effect on lower motor neurones
 Anterior horn cells affected
 CN affected V, VII, IX and XII

23. Spinal Muscular Atrophy
Differentials
 Congenital myotonic dystrophy
 Duchenne muscular dystrophy
 Disorders of carbohydrate metabolism
 Myasthenia gravis
 Polio

24. Spinal Muscular Atrophy
Investigations
 Bloods:
-creatinine , normal in SMA type 1
 Genetic testing:
-prenatally or postnatally
-molecular genetic testing
 Electrophysiology:
-diminished nerve signals
-helps differentiate
-sensory nerve conduction normal
 Muscle biopsy:
-atrophy of muscle
-differentiate with other neuromuscular disorders

25. Spinal Muscular Atrophy
Management
 No treatment / cure
 Invasive ventilation for type 1
 Multidisciplinary approach for palliative and supportive care:
-Physiotherapy
-Respiratory medicine – ventilatory support
-Dietician – NG / gastrostomy
-Neurology
-Psychological support

26. Spinal Muscular Atrophy
Prevention
 In families with previous child w/SMA
 Genetic diagnosis
 IVF and pre-implantation
 Transferring non-affected embryos

27. Spinal Muscular Atrophy
Ethical issues
 Offer ventilatory support when no current cure for the disease
and considering quality of life?
 Any study that guides decision making in ventilatory support in
SMA type 1 ?

28. Spinal Muscular Atrophy
Ethical issues
Pediatrics. 2002 Aug;110(2 Pt 1):e24.
Respiratory support in spinal muscular atrophy type I: a survey of
physician
practices and attitudes.
Hardart MK, Burns JP, Truog RD. Department of Anesthesia and Critical Care, Children's Hospital, Harvard Medical
School, Boston, Massachusetts
 This study suggests a wide variation not only in what is recommended but also in
what is actually offered to families of these children.
 Study suggests that physician training and attitudes affect recommendations
regarding mechanical ventilation and ultimately family decision making.

29. Spinal Muscular Atrophy
Ethical issues
Paediatr Respir Rev. 2008 Mar;9(1):45-50;
The use of mechanical ventilation is appropriate in children
with genetically proven spinal muscular atrophy type 1: the motion for.
Bach JR. Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, University Hospital, Newark
 The purpose of this paper is to report prolongation of survival for SMA type 1 :
trachostomy vs non-invasive ventilation
 Tracheostomy might prolong survival over 20 yrs , but patients do not develop speech
and lose ability to breathe
 The majority of non-invasively managed SMA 1 patients develop ability to
communicate verbally and maintain some autonomous breathing ability

30. Spinal Muscular Atrophy
Ethical issues
Paediatr Respir Rev. 2008 Mar;9(1):45-50;
The use of mechanical ventilation is appropriate in children
with genetically proven spinal muscular atrophy type 1: the motion for.
Bach JR. Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, University Hospital, Newark
 Clinicians significantly underestimate the care providers' view of patient's quality of life.
As a result, they rarely offer non-invasive means to prolong life
 Non-invasive aids & tracheostomy can prolong survival for SMA 1 patients
 Should be left up to the family to decide which, if either, they would like to use

31. Spinal Muscular Atrophy
Ethical issues
IN CONCLUSION..
 Should affected patients be offered ventilatory support when no
current cure for the disease?
 Clinicians often underestimate carer’s views
 Anecdote & clinical judgement still guide doctor's decision making
in ventilatory support in SMA type 1

32. References
 Tsao B & Stojic AS; Spinal muscular atrophy. emedicine, January 2009
 Wirth B; An update of the mutation spectrum of the survival motor neuron gene (SMN1) in
autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228-37.
 Sarnat HB. Spinal muscular atrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF.
Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Elsevier; 2011:chap 604.2
 Rudolf M, Lee T, Levene M. Paediatrics and Child Health. Wiley Blackwell, 2001; 3rd ed.
 Lissauer T, Clayden G. Illustrated textbook of Paediatrics. UK: Mosby Elsevier, 2007; 3rd ed.
 Tasker R, McClure R, Acerini C. Oxford handbook of Paediatrics. Oxford: Oxford University
press, 2008.

33. The end