Movement disorders in childhood: assessment and diagnosis. Lucinda Carr
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1 Movement disorders in childhood: assessment and diagnosis Lucinda Carr
2 Movement disorders in childhood: Assessment Classification Causes Diagnosis
3 Presentation of movement disorders in childhood: Concerns regarding: Development of movement Abnormalities of movements / tone Function Acute / chronic / paroxysmal
4 Assessment of the child with a movement disorder: n History: antenatal/perinatal/postnatal Acquisition / loss of milestones Acute events Fluctuations in tone especially diurnal variation Associated systemic features: sensory / cognitive / pain / seizures ( nb Family History )
5 Motor skills Development of motor skills Normal development Deviant Developmental delay Regression age
6 Examination: Use clues watch play Gait to include independent walking if possible Fog s test Tandem walking General Examination Static exam with tone/power/reflexes Fancy tricks
7 Description of tone and movement: Spasticity Dyskinesia: dystonia choreoathetosis myoclonus tremor tic Ataxia
8 Spasticity versus dystonia : Not all hypertonia is spasticity Dystonia is something you see Involuntary alteration of intended movement Co-contraction usually hypertonic state Spasticity is something you feel Velocity dependant Clonus
9 Signs of spasticity dynamic hypertonus hyperreflexia clonus Loss of dexterity Distal weakness Loss of selective control
10 Conditions resulting in childhood spasticity: Cerebral Palsy Traumatic / acquired brain injury Spinal Dyspraphism Genetic: Hereditary Spastic Paraplegia Metabolic disorders Leukodystrophies Arginase deficiency Biotinidase deficiency
11 MRI Brain: Typical PVL/white matter damage of immaturity
12 MRI Brain: Adrenoleukodystrophy
13 MRI Spine: Fatty filum terminale
14 Dystonia: Sustained / spasmodic muscle contractions abnormal postures, spasms and twisting repetitive movements.
15 Videos to show: Dystonia stressed gait - effect of tactile stimulation - striatal toe
16 MRI Brain: ischaemic stroke involving basal ganglia
17 MRI Brain: iron deposition in basal ganglia. eye of the tiger sign in PKAN
18 Causes of childhood dystonia: Primary dystonias Dopa Responsive Dystonia Dyt 1 dystonia Secondary dystonia Cerebral Palsy Mitochondrial disease Lesch Nyhan Syndrome Wilsons Disease Organic acidemias NBIA: PANK2 and INAD (PLA2G6) GLUT1 deficiency
19 Choreoathetosis: Involuntary purposeless asymmetric movements brief and proximal (chorea) sinuous and peripheral (athetosis)
20 Causes of childhood choreoathetosis: Acquired disorders Cerebral palsy Sydenhams chorea Lupus Metabolic disorders Genetic disorders Benign Hereditary Chorea
21 Myoclonus: Sudden brief involuntary contraction Tremor: Rhythmical muscle oscillations Tic: Involuntary stereotyped repetitive movements
22 Causes of childhood tics: Simple motor / vocal tics Chronic motor tics Tourette syndrome criteria: multiple motor tics 1 vocal tic (coprolalia c 10%) age at onset < 18 years duration > 1 year associated with obsessive-compulsive disorder
23 Ataxia: Disturbance in the smooth performance of voluntary motor acts Usually due to cerebellar dysfunction: abnormal gait abnormal eye movements dysarthria dysdiadochokinesis intention tremor titubation
24 Causes of childhood ataxia: Spinocerebellar degeneration Metabolic causes Ataxia telangectasia Hereditary spinocerebellar ataxia Dominant (includes SCAs) Recessive esp Friedreichs ataxia
25 Definition of cerebral palsy Cerebral palsy (CP) describes a group of disorders of the development of movement & posture causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of CP are often accompanied by disturbances of sensation, cognition, communication, perception &/or behaviour &/or by a seizure disorder. (Bax et al 2005)
26 Is the diagnosis of Cerebral Palsy correct? Careful assessment : history clinical features (n.b natural history of CP) Question diagnosis if: unexplained strong family history fluctuating course dysmorphic features pure signs unusual signs NB NATURAL HISTORY evolution of gait in CP
27 Differential diagnosis of Cerebral Palsy: Global developmental delay Genetic disorder Primary Dystonias (ITD / DRD) Hereditary spastic paraplegia Angelman syndrome Progressive Neurological / Metabolic disorder Leucodystrophy Mitochondrial disease Lesch Nyhan Syndrome Ataxia Telangectasia Wilsons Disease CDG Arginase deficiency Biotinidase deficiency Organic acidemias PANK2 Huntingdon disease (Cord tethering)
28 Cerebral Palsy or not? Guided by history / clinical assessment: Neuroimaging MRI Microarray / DNA studies / gene panels/ exome sequencing Neurophysiology Metabolic investigations of blood / urine / CSF/ muscle / skin / bone marrow
29
30 Video of DOPA responsive dystonia
31 Conclusions: To establish diagnosis: Detailed history Accurate description of movements Investigations guided by findings Appropriate treatments with regular review
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