1. The child with movement difficulties:
Making the diagnosis
Workshop 1
Kenya Paediatric Association
Annual Scientific Conference 2019
Please do not film or take photos of the children shown in these slides.
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2. Between now and lunchtime…
3 cases of children with movement difficulties – formulating diagnosis
Drug treatments for dystonia and spasticity
3 cases revisited – how to manage

3. Objective:
To be able to identify the predominant neurological problem in the child presenting with movement difficulties

4. Session outline: 3 cases Approach to initial clinical assessment
Differential diagnosis and investigation

5. Case 1: Toby, 3 years
Dear Paediatrician, Please review this 3 year-old boy with delayed milestones. He is not yet walking. He can talk in short sentences. Many thanks, Medical Officer

6. Toby, 3 years, delayed walking
What history would you want to know? What would you look for on examination?
History
Identify and antenatal, perinatal, postnatal events that could have caused brain injury
Antenatal includes any major maternal illnesses, bleeding in pregnancy, abnormalities seen on scan
Perinatal includes gestation, birthweight, whether multiple pregnancy (twins etc), mode of delivery, condition of baby at birth, resuscitation needed, newborn unit admission needed, support with breathing and feeding in the perinatal period, for how long ventilated/CPAP/oxygen, time taken to establish full oral feeds, total time on NBU/ age at discharge home – note in a term baby with HIE, time to establish full oral feeds is predictive of neurodevelopmental outcome
Was there any neonatal jaundice, if so on what day of life and how was it treated? Any phototherapy, transfusion? Was baby encephalopathic at that time?
Was there significant hypoglycaemia/ were parents told that the blood sugars were low?
Did baby have sepsis, meningitis, fever, lumbar puncture?
Did baby have seizures?
Did baby received blood transfusion?
Postnatal includes any severe illnesses e.g. meningitis, encephalitis, coma, cerebral malaria, prolonged seizures with fever, head injury
Motor symptoms and progress – at what age able to hold head, sit unsupported, crawl, take steps. What are the main difficulties with walking e.g. too stiff, too weak, strong limbs but trunk too unsteady? Can the child get up off the floor without using hands or do they need to use Gower’s manouvre? Do their limbs ever become very stiff e.g. when being changed, when they are upset; if so which limbs? Do they ever get stuck trying to reach for something e.g. does their arm go the wrong way? Do their ankles ever beat repetitively (clonus)? If stiff, does this go away when they are asleep, does this get worse with purposeful movement? Has there been any regression/loss sof acquired skills, or continuous progress?
Other developmental domains and progress – are the other domains progressing at faster or slower rate than walking? Has there been any regression/loss of acquired skills?
Other neuro-related symptoms and progression – breathing, feeding, swallowing, sphincters, eye movements, speech, vision, hearing, seizures.
Comorbidities – including conditions that could have neurosequela e.g. sickle and other diagnoses that might be related to muscle problems e.g. breathing difficulties/asthma, GOR
Family history of other similarly affected relatives.
Examination:
Tone – increased lower limbs > upper limbs, look for ankle clonus, dynamic catch (faster movement causes more stiffness)
Power – esp leg flexors in spasticity, vs normal power in dystonia but may struggle with purposeful movement
Deep tendon reflexes – knee jerks, look for crossed adductors, spreading; ankle jerk; if needing to use reinforcement to elicit DTRs probably not brisk
Plantars
Gait – can they stand on tiptoes, heels. Tandem gait, foggs.
Sensation

7. Toby, 3 years, delayed walking
History?
Symptom progression
Other neurological/developmental issues
Pre-/peri-/post-natal causes of brain injury
Examination?
- Spasticity versus dystonia…
History
Identify and antenatal, perinatal, postnatal events that could have caused brain injury
Antenatal includes any major maternal illnesses, bleeding in pregnancy, abnormalities seen on scan
Perinatal includes gestation, birthweight, whether multiple pregnancy (twins etc), mode of delivery, condition of baby at birth, resuscitation needed, newborn unit admission needed, support with breathing and feeding in the perinatal period, for how long ventilated/CPAP/oxygen, time taken to establish full oral feeds, total time on NBU/ age at discharge home – note in a term baby with HIE, time to establish full oral feeds is predictive of neurodevelopmental outcome
Was there any neonatal jaundice, if so on what day of life and how was it treated? Any phototherapy, transfusion? Was baby encephalopathic at that time?
Was there significant hypoglycaemia/ were parents told that the blood sugars were low?
Did baby have sepsis, meningitis, fever, lumbar puncture?
Did baby have seizures?
Did baby received blood transfusion?
Postnatal includes any severe illnesses e.g. meningitis, encephalitis, coma, cerebral malaria, prolonged seizures with fever, head injury
Motor symptoms and progress – at what age able to hold head, sit unsupported, crawl, take steps. What are the main difficulties with walking e.g. too stiff, too weak, strong limbs but trunk too unsteady? Can the child get up off the floor without using hands or do they need to use Gower’s manouvre? Do their limbs ever become very stiff e.g. when being changed, when they are upset; if so which limbs? Do they ever get stuck trying to reach for something e.g. does their arm go the wrong way? Do their ankles ever beat repetitively (clonus)? If stiff, does this go away when they are asleep, does this get worse with purposeful movement? Has there been any regression/loss of acquired skills, or continuous progress? Any progression of or improvement in symptoms?
Other developmental domains and progress – are the other domains progressing at faster or slower rate than walking? Has there been any regression/loss of acquired skills?
Other neuro-related symptoms and progression – breathing, feeding, swallowing, sphincters, eye movements, speech, vision, hearing, seizures.
Comorbidities – including conditions that could have neurosequela e.g. sickle and other diagnoses that might be related to muscle problems e.g. breathing difficulties/asthma, GOR
Family history of other similarly affected relatives.
Examination:
Tone – increased lower limbs > upper limbs, look for ankle clonus, dynamic catch (faster movement causes more stiffness)
Power – esp leg flexors in spasticity, vs normal power in dystonia but may struggle with purposeful movement
Deep tendon reflexes – knee jerks, look for crossed adductors, spreading; ankle jerk; if needing to use reinforcement to elicit DTRs probably not brisk
Plantars
Gait – can they stand on tiptoes, heels. Tandem gait, foggs.
Sensation

8. Toby, 3 years, delayed walking
Born pre-term at 27/40
Prolonged course on newborn unit – 3.5 months, several episodes of sepsis
Continuous developmental progress, mild speech delay, good upper limb function slightly clumsy
No bowel or bladder problems
On examination increased limb tone, mild distal weakness, brisk knee and ankle jerks, sustained clonus, upper limbs ok

9. Toby, 3 years, delayed walking
What is the clinical picture? What are the possible causes? How would you confirm your diagnosis? Why is this important?

10. Toby, 3 years, delayed walking
Clinical picture?
- Lower limb spasticity, mild global developmental impairment
Possible causes?
- Preterm brain injury, spinal cord pathology, genetic or other CNS disease
Confirm your diagnosis?
- Brain imaging (+/- spine), check for treatable causes

11. Case 2: James, 10 years
Dear Paediatrician, Please see this 10 year-old boy who gets repeated limb stiffening on the right ?focal seizures. Getting worse with time. Thank you for seeing him. Medical Officer

12. James, 10 years, limb stiffening
What history would you want to know? What would you look for on examination?

13. James, 10 years, limb stiffening
History?
Symptom progression
Other neurological/developmental issues
Causes of brain injury, family history
Examination?
- Spasticity v dystonia, unilateral v bilateral, which parts of the body involved?

14. James, 10 years, limb stiffening
Born at term, well perinatally/early years
Frequent tripping over on R foot from 7 years
Over the past year getting R arm and face “spasms” and says “my hand goes the wrong way”
No developmental concerns
Family history of “writers cramp” in grandma
On examination right hemidystonia, no other neurological signs

15. James, 10 years, limb stiffening
What is the clinical picture? What are the possible causes? How would you confirm your diagnosis? Why is this important?

16. James, 10 years, limb stiffening
Clinical picture?
- Progressive right hemidystonia with no other neurological issues, possible FHx
Possible causes?
- Likely genetic dystonia, consider other causes of basal ganglia pathology e.g. metabolic
Confirm your diagnosis?
- ?MRI (check normal), ?dystonia gene panel, ?trial treatment

17. Case 3: Ella, 13 months
Dear Paediatrician, Please review this 13 month old girl with CP. She was floppy from birth. Parents want to know if there is any medication. Many thanks, Medical Officer

18. Ella, 13 months, not sitting
What history would you want to know? What would you look for on examination?

19. Ella, 13 months, not sitting
History?
Symptom progression
Other neurological/developmental issues, especially breathing and feeding
Family history
Examination?
- Lower motor neurone signs – hypotonia, weakness, absent reflexes, tongue fasciculations

20. Ella, 13 months, not sitting
No significant family history, born at term, well
Always a floppy baby, seems to be getting weaker, can kick her legs in the bath but not otherwise
Poor feeding, choked a lot, frequent aspiration pneumonia – got a PEG at 12 months
Breathing becoming more difficult
Seems to understand well
On examination absent reflexes, very weak, interested and interactive

21. Ella, 13 months, not sitting
Clinical picture?
- Progressive neuromuscular weakness
Possible causes?
- Most likely spinal muscular atrophy (presence of tongue fasciculations)
Confirm your diagnosis?
- Gene testing (SMN1 and 2) – genetic counseling, treatment potential

22. Summary Many different causes for movement difficulties
Good history and examination will narrow the differential, guide investigation and is often diagnostic
Specific treatments are available for many conditions affecting movement that are not cerebral palsy – when possible confirm the diagnosis