Approach to a child with hypotonia.pptx

Approach to a child with hypotonia - Causes and initial assessment.

1. Anura jayawardana Approach to a child with hypotonia

2. hypotonia Definition Clinical features of a child with hypotinia Features of central and peripheral hypotonia Causes of central and P hypotonia History in a child with hypotonia Investigations of a child with CH and PH Management of a child with Hypotonia

3. Floppy baby What is mean by ” floppy baby” ? hypotonia ? Weakness ? Ligamental laxity increase range of movement Tone is the resistance of passive movement around the joint Phasic tone response of muscle to rapid stretch- Tendon reflex Postural tone response to muscle to sustained low intensity stretch Body’s ability to maintain the posture

4. Clinical features of floppy infant 1 “frog- leg” position- generally implies reduced movements- legs fully abducted and arms lying by the side of body 2 Significant head lag on pull to sit manoeuvre and rounded spine in sitting position ( > 33 weeks of age) 3 “Rag doll “sign on ventral suspension 4 Feeling “Slipping through the hand” on vertical suspension when the infant is held under the arms 5 Associated finding Flat occiput , congenital dislocation of hips athrogryposis paradoxical breathing

5. Clinical approach to a child with hypotonia Hypotonia with significant weakness or paralytic hypotonia (“floppy weak”)Crudely asses clinically by inability move against the gravity suggest peripheral hypotonia Hypotonia without significant weakness or non paralytic hypotonia (“ floppy strong” ) Crudely asses clinically by ability to move against the gravity suggest central hypotonia

6. Indicators of peripheral hypotonia Delay in motor mile stone with relative normality of social cognitive development F/H of neuromuscular diseases/maternal myotonia Reduced / absent spontaneous anti gravity movements and Reduced or absent tendon jerks “Frog leg posture" ,jug handle posture of arms with paucity of movements Myopathic faces open mouth ,tented upper lip, poor lip seal, lack of facial expression limited ocular movement , ptosis Muscle fasciculation Other evidence muscle atrophy /hypertrophy absent or reduced deep tendon reflexes

7. Clinical features of central hypotonia Social and cognitive impairment in addition to motor delay. Dysmorphic features suggest a syndrome. Fisting hands. Normal or brisk tendon reflexes. Features of pseudo bulber palsy, brisk jaw jerk, scissoring on vertical suspension. Features suggestive of underling spinal dysraphism . H/O HIE birth trauma symptomatic hypoglycemia Seizures.

8. “Floppy weak” Hypo to areflexia Selective motor delay Normal head circumference and growth Low pitch weak cry Preserve social interaction Weakness of antigravity limb movements Tongue fasciculation Paradoxical chest movements LOWER MOTOR NEURON ( peripheral hypotonia ) “Floppy strong” Increased tendon reflexes Extensor planter Global delay Sustained ankle clonus Microcephaly sub optimal head growth Convulsion Significant Axial weakness UPPER MOTOR NEURON (central hypotonia )

9. Conditions where both central and peripheral hypotonia coexist Familial dysautonomia HIE Infantile neuro axonal degeneration Lipid storage diseases Mitrochondrial disorders

10. Hypotonia and reflexes Preservation of muscle power with hypotoina and hyperreflexia – (UMN)central HT Alert, significant weakness ,lack of antigravity movement with areflexia - (LMN) peripheral Exception patient with Neuromuscular junction may have preserved reflexes

11. History of a floppy baby Perianta l – reduced fetal movements polyhydramnios (indicate muscle weakness) evidence of intra uterine infection maternal exposure (drugs ,alcohol) Neonata l prematurity, delivery complications, HIE, Neonatal seizure Duration of PBU care respiratory support Past medical breathing problems, recurrent cough ,hospital admission recurrent pneumonia feeding issues Developmenta l delayed milestones motor, social, speech and language. incongruence , regression of mile stones Feeding duration ,consistency of feeds, tiring, choking, cough aspiration. Family consanguinity, previous miscarriages early child hood death neuromuscular, metabolic, genetic, diseases in siblings.

12. Investigations in cases where central hypotonia is suspected SE, Ca ++, po4 ,Alpo4, Venous BG ,thyroid function test Chromosomal analysis trisomy, prader willi syndrome Plasma amino acids and urinary organic acids Very long chain fatty acids Geneticists opinion Ophthalmological opinion Neuroimaging of the brain Urine Mucopolysaccride Screen

13. Investigations in cases where peripheral hypotonia is suspected Creatinine kinase lactate EMG/NCS repetitive nerve stimulation test Muscle biopsy histology, immunohistochemistry, Electron microscopy Genetic testing - MN deletion in 95% Spinal muscular atrophy type1 Myotonic dystrophy Congenital myasthenic syndrome Tensilone test Nerve biopsy

14. Muscle biopsy Pre-op assessment by anesthetic team is mandatory. Careful manipulation of neck during sedation. Careful in anesthetist medications. Serum electrolyte especially serum K+ During recovery may have prolong muscle weakness and respiratory failure . Higher risk of developing Rhadomylysis and malignant hypothermia. Diathermy should not be used. Biopsy should be taken from large relatively unaffected muscle. Good piece of muscle is important for proper sample. Preserve sample for electron mic and immuno histochemical

15. Central vs peripheral Central hypotonia in more common than peripheral hypotonia . (60-80%of total) Diagnostic yield is more in peripheral hypotonia . Presence of clinical features suggestive of central hyotonia does not exclude peripheral etiology. In some cases clinical features suggestive of both peripheral and central man be seen . Central hypotonia may be Neurological, genetic, metabolic and syndromic )

16. conditions where central and peripheral hypotonia may coexist Familial dsyautonomia HIE Infantile neuroaxonal degeneration Lipid storage disease Lysosomal disorders Mitochondrial disorders

17. Anterior horn Hereditary SMA type 1 Werdnig Hoffmann type 11 intermediate type 111 kugelberg - walender Acquired Polio, Non polio ( Enterovirus ) ,Tetanus vaccine associated AFP Dorsal root Herpes Zoster Friedreich ataxia Hereditary sensory neuropathy Peripheral nerve Demyelinating GBS ( APIDPNR) Lecodystrphies Axonal Toxin eg lead DM Acute intermittent porphyria Tic paralysis Diphtheria neurotoxin Axonal type BGS Neuromuscular junction Myasthenia gravis Autoimmune Maternal ( transient) Juvenile MG Myasthenic syndrome Snake bite Botulism Poisoning

18. Muscular diseases Hereditary 1 Muscular dystrophies Facioscapulohumeral dystrophy(FSH) Limb Girdle type muscular dystrophy Duchenne muscular dystrophy Beckers Muscular dystrophy Myotonia dystropica 2 Congenital myopathies Nemalin rod Central core Myotubuler Mini core disease 3 Metabolic myopathies Acute maltase deficiency Glycogen storage disease type 2and 5 Malignant hypothermia Mitochondrial myopathy Acquired 1 Dermatomyositis Polymyositis Perodid paralysis 2 Endocrine myopat hy Thyrotoxicosis Cushing syndrome Hypothyrodism 3 Iatrogenic Steroid induced

19. Conditions associated with central hypotonia Acute encphelapathies Birth trauma HIE hypoglycemia Chronic encphelopahthies Hypotonic CP Inborn Errors of Metabolism MPS, anmino A ,OA, GSD,MKHS Chromasomal Down, PW Genetic F dysatonomia , Lowe paroxismal ALD, Zellwegers Endocrine/ nutritional hypothyroidism, rickets, RTA Connective tissue disorders Ehlers danlos syndrome Osteogenesis imperfecta Congenital ligamental laxity Benign congenital hypotonia

20. Principles of management Physiotherapy - prevent contractures Occupational therapy -facilitate the activities of daily living Prevention and correction of scoliosis Evaluation and treatment of associated conditions eg cardiac Respiratory support Assessment of the requirement of invasive and / or non invasive ventilation Need for tracheostomy Management of GOR medical/surgical fundoplications Orthopedic intervention preventing joint contraction Encourage the overall development and stimulation of learning Prevention and prompt treatment of respiratory infections Pneumococcal vaccine / influenza vaccine

21. refferances Evaluation of floppy baby Rakesh Kumar Jain and Sandeep Jayawant Pediatric and child health