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Diagnostic Approach to the Ataxic Child

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Diagnostic Approach to the Ataxic Child 9/9/2013 Diagnostic approach to Disclosure the ataxic child Andrea Poretti, MD We have nothing to disclose and no financial Postdoctoral research fellow Division of Pediatric Radiology relations interfering with our presentation Alec Hoon, MD Johns Hopkins Hospital Hilary Gwynn, MD Associate Professor of Pediatrics Assistant Professor of Neurology Johns Hopkins School of Medicine Johns Hopkins School of Medicine Director, Phelps Center Phelps Center Kennedy Krieger Institute Kennedy Krieger Institute AACPDM 67th Annual Meeting Milwaukee, October 16‐19, 2013 ©AP ©AP Take‐Home Messages Outline Ataxia: different systems and courses Cerebellum: embryology and anatomy Cerebellar ataxia most prevalent in children Definition of ataxia and its clinical findings History + examination: most important Examples of pediatric ataxia diagnostic tools Ataxia Rating Scales Neuroimaging: key role in cerebellar ataxia Treatment Cerebellar dysfunction: motor + cognitive ©AP ©AP Cerebellar Development Cerebellar Development Very long: early embryonic period => first postnatal years Development of cerebellum and brain stem are closely linked Several genes involved => wide spectrum of malformations Protracted development => vulnerable to several developmental disorders ten Donkelaar HJ et al, J Neurol, 2003 ©AP ©AP 1 9/9/2013 Cerebellar Development: Cerebellar Anatomy Selective Vulnerability Poretti A et al, Eur J Paed Neurol, 2009 ©AP ©AP Cerebellar Anatomy CerebellarCerebral Connections Granziera C et al, PLoS One, 2009 Krienen FM and Buckner RL, Cortex, 2009 ©AP ©AP CerebellarCerebral Connections Volpe JJ, J Child Neurol, 2009 ©AP ©AP 2 9/9/2013 Ataxia Ataxia: Classification Ataxia = lack of order Affected system Course Medicine = imbalance, Cerebellar Acute incoordination Sensory Non‐progressive Vestibular Progressive Common problem in Optic Intermittent child neurology, but broad differential Epileptic pseudoataxia Episodic diagnosis = challenging Functional/psychogenic ©AP ©AP Diagnostic Approach History 1. Basic (background) history 1. History 2. Examination 2. Neurological history: 3. Targeted additional . Family history investigations: . Past medical history . Laboratory . Social history . Neuroimaging . Toxin exposure, medication . Genetic . Patient‘s perception of problem 4. Diagnosis ©AP ©AP History Issues Examination Not easy to differentiate static slowly Neurological General progressing: Test for cerebellar dysfunction Involvement of other . Short‐term observation Test for other system organs: . Clinical heterogeneity with variable course involvement: . Eye: retina, cataract, optic nerve . Abnormal eye movements: . Some examples: •Nystagmus Hearing . Cerebellar ataxia in CDG syndrome •Ocular motor apraxia . Skin . Organomegaly . Cerebellar ataxia in coenzyme Q10 deficiency Polyneuropathy . Spasticity . Marinesco‐Sjögren syndrome . Encephalopathy Ataxia “pure” vs. Ataxia “plus”? ©AP © AP 3 9/9/2013 Cerebellar Motor Dysfunction Truncal Ataxia Impaired coordination and motor control: Sitting: Stance: . Stance . Support needed . Broad based Trunk Ataxia . Gait Tandem position, standing on one leg . Limb Dysmetria . Speech Dysarthria Romberg test: Ask patient to . Swallowing Dysphagia 1. Stand 2. Close eyes . Eye movements Nystagmus Negative (normal) = no change Positive = loss of position sense ≠ cerebellar disease ©AP ©AP Truncal Ataxia: Gait Truncal Ataxia Cerebellar dysfunction: . Wide‐based . Irregular rhythm, irregular steps . Truncal titubation . Unilateral lesion => stumble/fall towards affected side Influenced by additional abnormalities: . Proprioceptive loss . Vestibular deficit . Visual impairment . Spasticity ©AP ©AP Limb Ataxia Limb ataxia Finger‐nose‐test: simple, boring Dysmetria: incoordination of a limb while performing a task Examination should be “fun”, include activities of daily life: Intenon tremor: amplitude ↑ as an . Drawing, writing, peg‐board, games, ….. extremity approaches the endpoint Dysdiadochokinesia: incoordination while performing alternating movements ©AP ©AP 4 9/9/2013 Limb Ataxia Limb Ataxia Archimedes spiral Ladder Slow down: faster is easier ! Look for compensatory “tricks” ! . Arm support on table, arms pressed against trunk, pencil firmly pressed on paper © AP ©AP Speech Nystagmus Involuntary eye movement alternating a Dysartria = scanning speech slow and a fast component in two directions Poorly modulated rate, rhythm and force ©AP ©AP Nystagmus Nystagmus Horizontal nystagmus => unilateral lesion: Slow and coarse looking towards lesion Faster and finer looking away from lesion Vertical nystagmus => central (brain stem/ cerebellar lesion) Downbeat: craniocervical junction, toxic Upbeat: MS, ischemic, degenerative ©AP ©AP 5 9/9/2013 Nystagmus Ocular Motor Apraxia Congenital or acquired impairment of voluntary horizontal saccades Compensatory jerky head movements to enable fixation Congenital: Joubert, Cogan disease Acquired: Ataxia telenagiectasia, AOA1, AOA2 ©AP ©AP Ocular Motor Apraxia Ocular Motor Apraxia ©AP ©AP Opsoclonus Opsoclonus Rapid Involuntary Multivectorial (horizontal + vertical) Chaotic/unpredictable Conjugate Opsoclonus‐myoclonus syndrome (DD of acute ataxia) ©AP ©AP 6 9/9/2013 Cerebellar Cognitive Affective Cognitive Function + Behavior Syndrome Executive function Spatial cognition Language deficits Personality change Schmahmann JD and Sherman JC, Brain, 1998 ©AP ©AP Dysmetria of Thought Hypothesis: Dysmetria of Thought Hypothesis Topography Anterior ‐ Posterior Motor system = Ataxia Sensorimotor : Ipsilateral . Predominantly anterior cerebellar Thought and Emotion = Cerebellar lobe (I –V) motor syndrome cognitive affective syndrome Cognitive, affective : Cerebellum regulates speed, capacity, . Predominantly consistency and appropriateness of mental neocerebellum (vermal and cognitive processes + hemispheric No ataxia components of VI + VII) ©AP Schmahmann JD, Neuropsychol Rev, 2010 ©AP Dysmetria of Thought Hypothesis: Cerebellar Cognitive Affective Topography Medial ‐ Lateral Syndrome Based on observations in adults with: Vermis and fastigial . Cerebellar stroke nucleus: . Cerebellitis . Autonomic regulation, . Low‐grade cerebellar tumors affect, emotionally important memory Concept extended to children: . Cerebellar hemispheres Low‐grade cerebellar tumors . and dentate nucleus: Cerebellitis . Congenital non‐progressive ataxia . Executive, visual‐spatial, linguistic, learning and . Cerebellar malformations memory . Cerebellar disruptions Schmahmann JD, Neuropsychol Rev, 2010 ©AP ©AP 7 9/9/2013 Cerebellar Ataxia Progressive Cerebellar Ataxia Acute Long list of rare diseases Progressive Heterogeneous group (clinical, genetic) Non‐progressive Focused diagnostic work‐up Only few are treatable 40‐50% without specific diagnosis Dominantly inherited spinocerebellar ataxias (SCA) = rare in childhood ©AP ©AP Friedreich Ataxia Friedreich Ataxia Autosomal recessive Involved organs: CNS, myocardium, pancreas Presentation: “clumsiness”, ataxia Pes cavus and scoliosis = late signs Areflexia: already present in preclinical stage MRI: normal cerebellum, cervical cord atrophy DD: Charcot‐Marie‐Tooth polyneuropathy ©AP ©AP Non‐Progressive “Congenital” Ataxia Non‐Progressive Cerebellar Ataxia (NPCA) Non‐progressive “congenital” ataxia “Congenital” = early evidence of cerebellar Cerebellar malformations: ataxia, not really congenital . Joubert syndrome, rhombencephalosynapsis, Dandy‐Walker malformation No reliable data about prevalence, but Cerebellar disruptions: more common than any defined cerebellar malformation . Unilateral cerebellar hypoplasia, cerebellar disruption in preterm neonates ©AP ©AP 8 9/9/2013 NPCA: Early Presentation NPCA in Toddlers Hypotonia (no weakness, normal reflexes) Situation dominated by impaired motor performance: Delayed motor + language milestones . Slow, careful; avoidance of difficult tasks Ataxia: not congenital, in the first year of life . Balance problems more evident on soft ground, DD: changing gait direction, gait initiation/deceleration . Variant (buttom shuffler) With age: . Neuromuscular disorder . Impaired coordination more obvious . Syndromic (e.g. neurofibromatosis type 1) . Delay in language milestones . Developmental delay . Concerns about cognitive abilities ©AP ©AP NPCA: Long‐Term Problems NPCA: Neuroimaging Spectrum 1. Normal: most prevalent Ataxia tends to improve 2. Cerebellar hypoplasia Major limitation = intellectual disability 3. Mimicking cerebellar atrophy Increased prevalence of seizures Some patients: spastic‐dystonic component => Intrafamilial variability observed => No correlation imaging ‐ clinical ‐ outcome ©AP ©AP Hypoplasia Atrophy NPCA: Neuroimaging Spectrum Hypoplasia Atrophy Decreased size/volume of Dilated interfoliar spaces cerebellum Evolving, progressive Not filling normally Normal size of posterior configurated post.fossa or fossa small posterior fossa But: increased interfoliar spaces possible No evidence of progression Child with „static“ Normal MRI in girl with NPCA, Cerebellar hypoplasia cerebellar ataxia over years 2 sisters similarly affected in boy with NPCA MRI: Dilated interfolial Poretti A et al, Eur J Paeditr Neurol, 2008 spaces mimicking atrophy ©AP ©AP 9 9/9/2013 NPCA: Genetics NPCA: Differential Diagnosis Autosomal recessive inheritance: Cerebellar malformations . Many familial observations Metabolic disorders: L2HGA, GA1, CDG, Glut1 . Some gene loci/genes (e.g. VLDLR, CA8, deficiency, CoQ10 deficiency ZNF592, WDR81) identified in isolated NPCA or NPCA “plus” (e.g. deafness, optic
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