Abnormalities of Tone and Movement in ChildrenRosalina Q. De Sagun, M.D.Maria Antonia Aurora M. Valencia,M.D.Department of PediatricsDepartment of Neurology and Psychiatry

Developmental DelayDelayed acquistion of milestones expected for chronological age.Important to distinguish from Progressive Neurological Disorders which manifests as LOSS of previously acquired skills.Delays can involve any developmental parameter/s: Motor, Language, Psychosocial

Localization of WeaknessUMNLMN

Upper Motor NeuronLower Motor NeuronBulkMinimal AtrophyProfound AtrophyToneIncreased ; spasticDecreased; flaccidDTRsHyperreflexia Decreased/ AbsentFasciculationsAbsentPresent/ AbsentBabinskiPresentAbsentSensory DeficitMay be presentMay be present

Clinical Clues 1. Central nervous system Upper motor neuron (spasticity, hyperreflexia); may beaccompanied by cerebral manifestations(seizures, cognition, language and sensory problems)2. Peripheral nervous system Lower motor neuron(decreased to absent reflexes, flaccid)

Disorders of the motor system may be: 1. Acute - stroke/vascular metabolic disorders infection seizures 2. Chronic - cerebral palsy (static) congenital CNS lesion degenerative disorders (progressive)

CEREBRAL PALSYRefers to a group of disorders characterized by motor abnormalities (tone, posture or movement) which are neither progressive nor episodic. The brain lesions are static and result from disorders of early brain development, usually insults in the perinatal period.

They are not progressive but the symptoms may change in time.

Cerebral Palsy (CP) Impairment in movement and posture leading to functional deficits and the inability to perform activities of daily living

Caused by a broad group of developmental, genetic, metabolic, ischemic, infectious and other etiologies that produce a common neurologic phenotype

Epidemiology and EtiologyMost common and costly form of chronic motor disability with a prevalence of 2/1000

Clinical manifestations: 1. Delay in development i.e. poor head control, delays in gross motor or fine motor development 2. Motor deficit depending on the area of the brain involved and usually the risk factors present 3. Associated developmental disabilities mental retardation, epilepsy, visual, hearing, speech and behavioral abnormalities CEREBRAL PALSY

Motor Disorders in CP Three main criteria in classification:

1. Type of motor disorder 2. Topographical distribution

3. Gross motor function

Types of Cerebral Palsy and the Major Causes

PhysiologicTopographicEtiologicFunctionalSpasticAthetoidRigidAtaxicTremorAtonicMixedUnclassifiedMonoplegiaParaplegiaHemiplegiaTriplegiaQuadriplegiaDiplegiaDouble hemiplegiaPrenatal infection, metabolic, anoxia, toxic, genetic, infarctionPerinatal anoxiaPostnatal toxins, trauma, infectionClass I no limitation of activityClass II slight to moderate limitationClass III moderate to great limitationClass IV no useful physical activity

Motor SyndromeNeuropathologyMajor CausesSpastic diplegiaPeriventricular leukomalaciaPrematurityIschemiaInfectionEndocrine /metabolic/ geneticSpastic QuadriplegiaPVL/ Multicystic encephalomalacia, MalformationsSame as aboveHemiplegiaStroke in utero or neonatalThrombophilic disorders InfectionGeneticHemorrahgic InfarctionExtrapyramidal/ AthetoidPathology in the basal ganglia, putamen, globus pallidus, thalamusAsphyxiaKernicterusMitochondrialGenetic/Metabolic

Clinical Manifestations of CPMovement disorders Spasticity Athetosis Dystonia Rigidity Ataxia Mixed motor problems2. Associated with a spectrum of developmental diasabilities: Mental retardation, epilepsy, hearing and visual problems, speech, cognitive and behavioral

Hypotonic Cerebral PalsyPhysiologic Classification

Physiologic classification

Hypotonia

Hypotonic Cerebral PalsyPhysiologic Classification

Spastic DiplegicCerebral PalsyPhysiologic Classification

Spastic Cerebral Palsy

Spastic Quadriplegic Cerebral Palsy

Spastic DiplegicCerebral Palsy

Spastic QuadriplegiaMost severe form because of involvement of ALL four limbs and the HIGH association of mental retardation and seizures.Feeding problems are common due to supranuclear bulbar palsies.

AthetoidCerebral Palsy

Athetoid CPLess common than the spastic typeThis is the type most likely associated with birth asphyxiaHypotonic infants who do not have UMN signs but later on develop increased variable tone (rigidity) and dystonia and other dyskinesiasIntellect is preserved in many cases

AthetoidCerebral Palsy

AtaxicCerebral Palsy

Diagnosis Cerebral Palsy is a clinical diagnosis

Neuroimaging will document the extent of the structural pathology, aid in diagnosis and prognostication and rule out treatable causes and slowly progressive neurological disorders.

DiagnosisThorough history to identify risk factors, developmental assessment, physical and neurological examinationsHearing and vision screeningEEG if with seizuresIf no possible etiology or risk factors for CP, do diagnostic tests as: Neuroimaging CT/MRI Metabolic screening, Chromosomal studies

Differential Diagnosis 1. Motor delays from congenital structural malformations 2. Progressive disorders of the brain white matter diseases 3. Muscle disorders- myopathies, dystrophies. 4. Anterior horn cell disease- spinal muscular atrophy (SMA)

DifferentialsDysmyelinating / demyelinating disorders - Abnormal myelin formation as in some metabolic disorders - Abnormal myelin secondary to brain insults from infection, trauma, autoimmune.

Clinically: - White matter involvement with progressive neurologic deficits ( spasticity, hyperreflexia, hearing and vision may be affected.)

2. Spinal Muscular atrophy - disorders of the anterior horn cell - usually progressive - of 3 varieties depending on the age of onset of symptoms Infantile type Werdnig-Hoffman disease Intermediate Juvenile - Kugelberg Welander disease Present with LMN signs: fasciculations, floppy, areflexic

DifferentialsMuscle - Congenital myopathyNerve disorders - manifestations of lower motor disease, decreased reflexes, tone (e.x. Hereditary Motor-Sensory Neuropathy)

C PEffective management requires 1. Understanding of the pathophysiology of the disorder 2. Careful assessment of the patients capabilities and limitations 3. Knowledge of available treatment regimens, their applications and limitations

Management MultidisciplinaryPediatricianNeurologist- management of seizures, botulinum toxin injections Rehabilitation specialists Physical and occupational therapistsDevelopmental psychologistsEducation specialistsOrthopedic surgeonsSocial workers

Autism Spectrum DisorderAutism is a neurodevelopmental disorder of unknown etiology but with a strong genetic basis.Behavioral phenotype:Qualitative impairment in language/ communicationImpaired Social interactions and reciprocityLack of Imaginative play

Signs and SymptomsNo pathognomonic symptom or behaviorMost will present with:Impairment in joint attention ( use of eye contact and pointing to share experiences with others) Normally develops at 18 monthsLack of protoimperative pointing ( to get an object of desire)Lack of protodeclarative pointing ( to share an object of interest/ naming)Lack of imaginative play

ManifestationsPoor eye contactVerbal abilities vary: non-verbal to advanced speechBut speech may have odd prosody or intonation, echolalia, pronoun reversal, non-sense rhymingIQ from MR to superior functioningStereotypical/ ritualistic behaviorsMarked need for sameness

DiagnosisDSM IV Criteria for AutismModified Checklist for Autism in Toddlers (M-CHAT)Pervasive Developmental Disorder Screening Test (PDDST)

TreatmentMultidisciplinaryDevelopmental pediatrician, Pediatric Neurologist/ Child PsychiatristPsychologistOccupational/ Speech therapistSpecial Education Teacher (if necessary)Medications depending on co-morbid conditions

Attention Deficit Hyperativity Disorder (ADHD)Most common neurobehavioral disorder in childhoodCharacterized by (DSM IV):(1) Inattention(2) Poor impulse control(3) Motor overactivity / restlessnessSymptoms should be present for more than 6 months in at least 2 settings ans significantly affects social, academic or occupational functioning.

EtiologyMultifactorialGenetic susceptobilityMaternal complications during pregnanceMaternal smoking amnd alcohol intake during pregnancyAbnormal brain structuresPsychosocial family stressors exacerbate and/ or contribute to the symptoms.

PathogenesisSmaller prefrontal cortex and basal ganglia with 5-10% less blood flow in these areas.These areas are rich in dopamine receptors led to the dopamine hypothesis disturbances in dopamine system are related to the onset of ADHD

DiagnosisClinical interview and historyFulfills criteriaFamily Hx of ADHDFamily discord, situational stressBehavior rating scales ( e.x. Conners rating scale), helps establish the magnitude and pervasiveness of symptoms and can be used for monitoring improvement with intervention

TreatmentPsychosocial treatmentsBehaviorally oriented treatmentsMedications : Methylphenidate and Atomoxetine

PrognosisPersists throughout the life spanReduction in hyperactive behavior with age Other symptoms: Impulsivity, disorganization and inattention become prominent affecting relationships and occupational functioningHigh risk for risk taking behaviors ( substance abuse) and psychiatric dso.

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