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Explore diagnosing and managing movement difficulties in children at the Kenya Paediatric Association Annual Scientific Conference. Learn through case studies and expert insights.
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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. These images were shared with the Faculty for teaching purposes only. We do not have consent for their wider dissemination.
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
Objective: To be able to identify the predominant neurological problem in the child presenting with movement difficulties
Session outline: 3 cases • Approach to initial clinical assessment • Differential diagnosis and investigation
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
Toby, 3 years, delayed walking What history would you want to know? What would you look for on examination?
Toby, 3 years, delayed walking History? • Symptom progression • Other neurological/developmental issues • Pre-/peri-/post-natal causes of brain injury Examination? - Spasticity versus dystonia…
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
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?
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
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
James, 10 years, limb stiffening What history would you want to know? What would you look for on examination?
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?
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
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?
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
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
Ella, 13 months, not sitting What history would you want to know? What would you look for on examination?
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
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
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
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