group 4. patrick, 2 year old male patrick, 2 year old male from cavite from cavite referred from...
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Case 4Case 4Group 4
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General DataGeneral Data
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• Patrick, 2 year old malePatrick, 2 year old male
• From CaviteFrom Cavite
• Referred from General Referred from General Pediatrics Clinic for Pediatrics Clinic for developmental delaydevelopmental delayGenerGener
al Dataal Data
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HistoryHistory
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• Born at Born at 43 weeks AOG43 weeks AOG via via SVDSVD (spontaneous (spontaneous vaginal delivery)vaginal delivery)
• 29-year old mother G1P1 29-year old mother G1P1 (1001)(1001)
• Lying-in clinic in CaviteLying-in clinic in Cavite
• Regular prenatal checkupsRegular prenatal checkups• At the health centerAt the health center• 3 prenatal UTZ: all normal3 prenatal UTZ: all normal
• (+) excessive vomiting (+) excessive vomiting (3rd & 4th months)(3rd & 4th months)
• (-) history of fever, (-) history of fever, bleeding, hypertensionbleeding, hypertension
historyhistory
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• Inadequate Inadequate contractionscontractions during labor during labor
• Born Born limp, cyanotic, limp, cyanotic, meconium-stainedmeconium-stained rushed to a tertiary rushed to a tertiary hospitalhospital
• At the tertiary hospital:At the tertiary hospital:• Intubated, admitted at ICU Intubated, admitted at ICU (for 2 weeks)(for 2 weeks)• Diagnosis: Diagnosis: pneumoniapneumonia• Stayed for another 2 weeksStayed for another 2 weeks
• After 3 days (1 month of After 3 days (1 month of age): age): cough and cough and difficulty of breathing difficulty of breathing brought to PGHbrought to PGH
historyhistory
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• PGH: PGH:
• Intubated for 2 daysIntubated for 2 days• Treated for pneumoniaTreated for pneumonia
• After 7 days: dischargedAfter 7 days: discharged
• After 1 week (1.5 After 1 week (1.5 months of age): months of age): readmitted for readmitted for pneumoniapneumonia
• 3 months of age: 3 months of age:
• Poor head controlPoor head control• Closed anterior fontanelClosed anterior fontanel•MicrocephalyMicrocephaly
historyhistory
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• Subsequent months:Subsequent months:
•Head lagHead lag• Absence of regardAbsence of regard• Episode of jerkingEpisode of jerking• Stiffening of extremitiesStiffening of extremities (esp. when agitated)(esp. when agitated)
• MilestonesMilestones
• 1 year: vocalization1 year: vocalization• 14 months: Spontaneous smile14 months: Spontaneous smile• 15 months: Appear to listen to 15 months: Appear to listen to soundsound
• 18 months: 18 months: persistence of persistence of stiffening diagnosed as stiffening diagnosed as epilepsyepilepsy
historyhistory
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• Respiratory infection: at Respiratory infection: at least once a monthleast once a month•Dyshidrotic eczema: Dyshidrotic eczema: diagnosed at 1 yr. of agediagnosed at 1 yr. of age
other other medicamedical l probleproblemsms
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• (-) similar (-) similar neurodevelopmental neurodevelopmental illnessillness
• (+) Asthma: mother and (+) Asthma: mother and materal auntmateral aunt
• (+) HPN: maternal (+) HPN: maternal grandmothergrandmother
familyfamilyhistoryhistory
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• FatherFather
•29 years old•Security guard•High school graduate
• MotherMother
•30 years old•Housewife•High school graduate
• BrotherBrother
•8 years old•Grade 3 student
personpersonal/al/social social historyhistory
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• 0-3 months: breastfed0-3 months: breastfed
• Then gven Bonna at 1:2 Then gven Bonna at 1:2 dilutiondilution
• (+) regurgitation of milk(+) regurgitation of milk
• 6 months: given cereal 6 months: given cereal thrusted out thrusted out ricewater ricewater (“am”) + milk instead(“am”) + milk instead
• Currently on Bonamil + amCurrently on Bonamil + am
•6oz. Nine times/day•Slightly thickened solution
nutritionutrition n historyhistory
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• 0-3 months: breastfed0-3 months: breastfed
• Then gven Bonna at 1:2 Then gven Bonna at 1:2 dilutiondilution
• (+) regurgitation of milk(+) regurgitation of milk
• 6 months: given cereal 6 months: given cereal thrusted out thrusted out ricewater ricewater (“am”) + milk instead(“am”) + milk instead
• Currently on Bonamil + amCurrently on Bonamil + am
•6oz. Nine times/day•Slightly thickened solution
nutritionutrition n historyhistory
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Physical ExamPhysical Exam
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physical examphysical exam
PARAMETERPARAMETER PATIENT VALUESPATIENT VALUESNORMAL VALUESNORMAL VALUES
(1- 3 y.o.)(1- 3 y.o.)INTERPRETATIONINTERPRETATION
Respiratory RateRespiratory Rate 40 breaths/min 20-30 Tachypneic
TemperatureTemperature Afebrile
WeightWeight7.7 Kg
(<5th percentile)≈ 12 Kg Moderate wasting
HeightHeight73 cm
(<5th percentile)≈ 92 cm Moderate stunting
Head Head circumferencecircumference
35 cm 45-50 cm microcephaly
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physicaphysical examl exam
FINDINGS INTERPRETATION
Closed fontanellesPremature closure at 3
months(Normal: 18 months)
Flattened occiputMinimal head movement due to poor head control
AnkyloglossiaToungue-tied – decreased
mobility and oromotor dysfunction
(+) thick mucoid nasal secretions
Aspiration Pneumonia because of oromotor
dysfunction
Equal chest expansionOccasional retractions
(+) rhonchi on both lung fields
Stiff extremities HypertonicNormal cardiovascular exam Normal
Normal genitalia Normal(+) discrete macupapular
erythematous lesionsEczema?
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Neurologic ExamNeurologic Exam
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ParameterParameter Pertinent FindingsPertinent Findings InterpretationInterpretationSensoriumSensorium Hyperalert
Smiles without regard Delayed for age
Cranial NervesCranial Nerves No dazzle (Shining a bright light into the eye should cause squinting)
No visual tracking(+) Doll’s eye ---oculocephalic reflex
No facial asymmetry
Cortical blindnessIntact oculocephalic reflex
(As an individual turns their head to the right, the eyes will deviate
left top stay focused on the same target)
MotorMotor Spastic on all extremitiesFlexion contractures
Spontaneous non-purposeful movements on all extremities
Spastic quadriplegia
ReflexesReflexes DTR +++ : hyperreflexia (normal is ++)(+) bilateral Babinski (may be normal)
Asymmetric tonic neck reflexNo clonus
UMN lesionUMN lesion
Persistence of 1O reflex
neurologic examneurologic exam
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DomainDomain Patient’s SkillPatient’s Skill Appropriate AgeAppropriate Age InterpretationInterpretation
Gross motorGross motor No head control 3 months
Development is delayed
Fine motorFine motor No visual tracking (following objects)
6 months
Receptive languageReceptive language Quietens to sound and voice
12 months
Expressive languageExpressive language Vocalizes 2 months
Social/ AdaptiveSocial/ Adaptive Smiles spontaneously 1 month
neurologic examneurologic exam
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DifferentialsDifferentials
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Rule in
– Risk factors present:• Post-maturity (43 mos AOG and difficult delivery resulting to asphyxia• Limp, cyanotic and meconium-stained upon delivery
– Motor symptoms present:• Weak swallowing → aspiration/regurgitation → recurrent pneumonia• Poor head control and lag• Jerking and stiffening of extremities• Spastic on all extremities with flexion contractures and non-purposeful
movements• No visual tracking• DTR +3• (+) Bilateral Babinski, Asymmetric tonic neck reflex, Moro reflex
– Cognitive Symptoms and Developmental Delays present:• Absence of regard• Able to vocalize only at 1 year• Smiled spontaneously only at 1 year and 2 months• (+) failure to thrive
Cerebral PalsyCerebral Palsy
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Rule in Rule out
– Features present:• (+) microcephaly• Short stature• Previous diagnosis of
epilepsy– Motor symptoms present:
• Tonic-clonic seizures (Jerking and stiffening of extremities)
• Repeated bouts of pneumonia
– Absence or associated abnormalities and facial features: upslanted eyes, puffy eyelids, simian crease, small ears, flat nasal bridge, cardiac problems
– Absence of poor muscle tone and hyperextensible joints
Down’s SyndromeDown’s Syndrome
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Rule in Rule out
– Upper motor neuron weakness with associated pyramidal signs: spasticity, hyperreflexia, (+) Babinski
– No visual tracking → optic neuritis– Cognitive dysfunction
• Absence of regard• Vocalize only at 1yr• Spontaneous smile only at 1yr
and 2 mos
Cannot be ruled out
Infantile Multiple Infantile Multiple SclerosisSclerosis
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Rule in Rule out
– Motor features:• Poor head control and lag• Involuntary movements
– Non-motor features:• Cognitive impairment
• Absence of cardinal signs: rest tremor, rigidity (hypotonic), bradykinesia
Infantile ParkinsonismInfantile Parkinsonism
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Differential Rule in Rule out
Duchenne and Becker Muscular Dystrophy
• Poor head control• Intellectual impairment• Weak respiratory
muscles → frequent pulmonary infections
• Weak pharyngeal muscles → aspiration and pneumonia
• Flexion contractures
• Duchenne and Becker patients are rarely hypotonic at birth
• Duchenne and Becker patients can walk at 1 year
• Muscle spasms do not occur in Duchenne and Becker
• No evidence of cardiomyopathy
Congenital Muscular Dystrophy
• (+) presence of contractures
• (+) hypotonia at birth• (+) poor head control• (+) microcephaly
• Pharyngeal weakness is uncommon for this illness
• Deep tendon reflexes are hypoactive or absent in this condition
Muscular Dystrophies Muscular Dystrophies
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Rule in Rule out
• Malformations at the base of the skull may explain symptoms of quadriplegia and involvement of eye movement pathways
• Episodes of jerking and stiffening of extremities; onset of symptoms at 3 months of age
Congenital Malformations Congenital Malformations
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Differentials Rule in Rule out
Phenylketonuria • Vomiting, non-purposeful movements, microcephaly, eczematous rash, hypertonic, growth retardation
• No mention of mousy odor, no family history of similar symptoms, cannot explain recurrent pulmonary infections
Tyrosine Hydroxylase Deficiency (Infantile Parkinsonism)
• Jerky movements of the limbs, spasticity, rigidity
• Not tremors, cannot explain recurrent pulmonary infections, microcephaly and poor head control; no family history of similar symptoms
Metabolic DiseasesMetabolic Diseases
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Differentials Rule in Rule out
Biotinidase deficiency • Immunodeficiency (recurrent pulmonary infections), dermatitis (dyshidrotic eczema), developmental delay, poor head control, myoclonic seizure
• Spasticity; cannot explain microcephaly; no family history of similar symptoms
Methylenetetrahydrofolate Reductase (MTHFR) deficiency Homocystinuria
• Spasticity, microcephaly, developmental delay
• (-) convulsions; Pulmonary infections unexplained, poor head control, Fam Hx?
Creatinine Deficiency • Developmental delay, (-) active speech, hypertonia, dyskinetic movements
• Growth retardation; Pulmonary infections unexplained, microcephaly & poor head control, Fam Hx?
Metabolic DiseasesMetabolic Diseases
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Differentials Rule in Rule out
Cord TransectionSpinal Cord Traction Injury during delivery
• Mother’s contractions during delivery not sufficient
• (+) Response to pain
Spinal muscular atrophy Type 2 (Chronic infantile form)
• Pt is within age range (6-18 mos.) when symptoms became manifest
• Glaring developmental motor delay
• Pulmonary infections explained
• (-) Pseudohypertrophy of gastrocnemius, MSK deformities
• (-) postural finger tremors
Spinal Cord LesionsSpinal Cord Lesions
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Cerebral PalsyCerebral Palsy
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• Describes a group of disorders Describes a group of disorders of movement and posture, of movement and posture, limiting activity, attributed to limiting activity, attributed to non-progressive underlying non-progressive underlying brain pathology. brain pathology.
• The motor disorders of CP are The motor disorders of CP are often accompanied by often accompanied by disturbances of sensation, disturbances of sensation, cognition, communication, cognition, communication, perception, and/or behavior, perception, and/or behavior, or by a seizure disorder.or by a seizure disorder.
• Brain lesions of CP occur from Brain lesions of CP occur from the fetal or neonatal period to the fetal or neonatal period to up to age 3 yearsup to age 3 years
CerebrCerebral al PalsyPalsy
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• The etiology of CP is not well The etiology of CP is not well understood and is thought to understood and is thought to be associated with prenatal, be associated with prenatal, perinatal, or postnatal events perinatal, or postnatal events of varying causes.of varying causes.
• Risk factors for CP are Risk factors for CP are multifactorial.multifactorial.
• PrevalencePrevalence
• In developed countries: about 2-In developed countries: about 2-2.5 cases per 1000 live births2.5 cases per 1000 live births
• In developing countries: about In developing countries: about 1.5-5.6 cases per 1000 live 1.5-5.6 cases per 1000 live births.births.
CerebraCerebral Palsyl Palsy
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Clinical Presentations of Clinical Presentations of Cerebral PalsyCerebral Palsy
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• Failure to meet expected Failure to meet expected developmental milestones developmental milestones or failing to suppress or failing to suppress obligatory primitive reflexes.obligatory primitive reflexes.
• Abnormalities in muscle tone. Abnormalities in muscle tone.
• Definite hand preference Definite hand preference before age 1 year is a red before age 1 year is a red flag for possible hemiplegia.flag for possible hemiplegia.
• Asymmetric crawling or Asymmetric crawling or failure to crawl also may failure to crawl also may suggest cerebral palsy.suggest cerebral palsy.
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• Joint contractures secondary to Joint contractures secondary to spastic musclesspastic muscles
• Hypotonic to spastic toneHypotonic to spastic tone
• Growth delayGrowth delay
• Persistent primitive reflexes Persistent primitive reflexes
• Gait pattern abnormalitiesGait pattern abnormalities
• Hip - Excessive flexion, adduction, and femoral anteversion • Knee - Flexion and extension with valgus or varus stress occur.• Foot - Equinus, or toe walking, and varus or valgus of the hindfoot
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• Spastic (70-80%) Spastic (70-80%) – Increased – Increased deep tendon reflexes, sustained deep tendon reflexes, sustained clonus, hypertonia, and the clasp-clonus, hypertonia, and the clasp-knife responseknife response
• Dyskinetic (10-15%) Dyskinetic (10-15%) – – Fluctuating tone, rigid total body Fluctuating tone, rigid total body involvement by definition. involvement by definition. Persistent primitive reflex Persistent primitive reflex patterns (asymmetric tonic neck patterns (asymmetric tonic neck reflex, labyrinthine)reflex, labyrinthine)
• Ataxic (<5%) Ataxic (<5%) – characterized by – characterized by cerebellar signs (ataxia, cerebellar signs (ataxia, dysmetria, past pointing, tremor, dysmetria, past pointing, tremor, nystagmus) and abnormalities of nystagmus) and abnormalities of voluntary movementvoluntary movement
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• Mixed - no single specific Mixed - no single specific tonal quality predominating; tonal quality predominating; mixture of spastic and mixture of spastic and dyskinetic componentsdyskinetic components
• Hypotonic - truncal and Hypotonic - truncal and extremity hypotonia with extremity hypotonia with hyperreflexia and persistent hyperreflexia and persistent primitive reflexes; thought to primitive reflexes; thought to be rarebe rare
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• Sensory:Sensory:• Sensorineural and conductive Sensorineural and conductive
hearing losshearing loss
• Impaired visual acuityImpaired visual acuity
• Oculomotor dysfunctionOculomotor dysfunction
• StrabismusStrabismus
• Cortical visual impairmentCortical visual impairment
• Somatosensory impairmentsSomatosensory impairments
• Neurologic:Neurologic:• SeizuresSeizures
• HydrocephalusHydrocephalus
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• Cognitive and linguistic:Cognitive and linguistic:• Mental retardationMental retardation
• High incidence of language and High incidence of language and learning disabilitieslearning disabilities
• DysarthriaDysarthria
• Attention deficit hyperactivity Attention deficit hyperactivity disorderdisorder
• Sleep and behavioral Sleep and behavioral disturbancesdisturbances
• Musculoskeletal:Musculoskeletal:• ContracturesContractures
• Hip dislocationHip dislocation
• scoliosisscoliosis
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• Cardiorespiratory:Cardiorespiratory:• Upper airway obstructionUpper airway obstruction
• Aspiration pneumonitisAspiration pneumonitis
• GI/Nutritional:GI/Nutritional:• Poor growthPoor growth
• Gastroesophageal refluxGastroesophageal reflux
• ConstipationConstipation
• Dysphagia Dysphagia
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Pathophysiology of Cerebral Pathophysiology of Cerebral PalsyPalsy
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• <10% children with CP: <10% children with CP: evidence of intrapartum evidence of intrapartum asphyxiaasphyxia
• Associated with increased risk Associated with increased risk of CP in normal birthweight of CP in normal birthweight infants: intrauterine exposure infants: intrauterine exposure to maternal infectionto maternal infection
• Prevalence of CP is increased Prevalence of CP is increased among low birthweight infants, among low birthweight infants, particularly those weighing particularly those weighing <1,000 g at birth : because of <1,000 g at birth : because of intracerebral haemorrhage and intracerebral haemorrhage and periventricular leukomalacia periventricular leukomalacia (PVL)(PVL)
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• Believed to be caused by non-Believed to be caused by non-progressive disturbances in the progressive disturbances in the immature and still developing immature and still developing fetal or infant brainfetal or infant brain
• Insult to immature brain (before Insult to immature brain (before birth to postnatal period) birth to postnatal period) if if immediately after postnatal period immediately after postnatal period may be due to hypoxic-ischemic may be due to hypoxic-ischemic encephalopathy encephalopathy cerebral insult cerebral insult altered muscle tone, muscle altered muscle tone, muscle stretch reflexes, primitive reflexes, stretch reflexes, primitive reflexes, postural ractionspostural ractions
• Cerebral insults may be vascular, Cerebral insults may be vascular, hypoxic-ischemic, metabolic, hypoxic-ischemic, metabolic, infectious, toxic, teratogenic, infectious, toxic, teratogenic, traumatic, and genetic in naturetraumatic, and genetic in nature
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Classification of Cerebral PalsyClassification of Cerebral PalsyMOTOR SYNDROME
NEUROPATHY MAJOR CAUSES
Spastic Diplegia • Periventricular• Leukomalacia
(periventricular leukomlacic [PVL])
• Prematurity• Ischemia• Infection• Endocrine/metabolic (e.g.,
thyroid)
Spastic Quadriplegia
• PVL• Multicystic
encephalomalacia• Malformations
• Ischemia• Infection• Endocrine/metabolic• Genetic/developmental
Hemiplegia • Stoke: in utero or neonatal
• Thrombophilic disorders• Infection• Genetic/developmental• Periventricular hemorrhagic
infearction
Extrapyramidal (athetoid, dyskenetic)
• Basal ganglia• Pathology: putamen,
globus pallidus, thalamus
• Asphyxia• Kernicterus• Mitochondrial• Genetic/metabolic
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• Spastic HemiplegiaSpastic Hemiplegia
• focal cerebral infarction secondary to intrauterine or perinatal thromboembolism related to thrombophilic disorders, especially anticardiolipin antibodies, is an important cause
• Spastic DiplegiaSpastic Diplegia
• the most common neuropathologic finding is periventricular leukomalacia, particularly in the area where fibers innervating the legs course through the internal capsule
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• Spastic QuadriplegiaSpastic Quadriplegia
•most severe form of CP; swallowing difficulties are common as a result of supranuclear bulbar palsies, often leading to aspiration• the most common lesions seen are severe PVL and multicystic cortical encephalomalacia
• Athetoid/Chorioathetoid/ Athetoid/Chorioathetoid/ Extraoyramidal CPExtraoyramidal CP
• if secondary to acute intrapartum near-total asphyxia is associated with bilateral symmetric lesions in the posterior putamen and ventrolateral thalamus
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TreatmentTreatment
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• Goal:Goal:
• to maximize the functional use of limbs and ambulation• to reduce the risk of contractures• to help the patient in attaining his greatest potential physically, mentally and socially
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• Physical therapy – to develop Physical therapy – to develop muscle strength, flexibility and muscle strength, flexibility and strength strength
• Occupational therapy – to help Occupational therapy – to help learn physical skills needed to learn physical skills needed to function in everyday lifefunction in everyday life
• Recreational therapyRecreational therapy
• Orthotic devices such as ankle Orthotic devices such as ankle foot orthosesfoot orthoses
• Speech therapy – to overcome Speech therapy – to overcome speech problemsspeech problems
• PsychotherapyPsychotherapy
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• Teach the parents how to Teach the parents how to work with their child in daily work with their child in daily activities such as feeding, activities such as feeding, dressing, bathing, and dressing, bathing, and playing in ways that limit the playing in ways that limit the effects of abnormal muscle effects of abnormal muscle tone.tone.
• Instruct the parents in the Instruct the parents in the supervision of a series of supervision of a series of exercises designed to exercises designed to prevent the development of prevent the development of contractures, especially a contractures, especially a tight Achilles tendon.tight Achilles tendon.
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• Use walkers, poles, and Use walkers, poles, and standing framesstanding frames
• Surgery may be considered Surgery may be considered to reduce muscle spasm to reduce muscle spasm around the hip girdle around the hip girdle (adductor tenotomy or psoas (adductor tenotomy or psoas transfer and release)transfer and release)
• Rhizotomy procedure – roots Rhizotomy procedure – roots of the spinal nerves are of the spinal nerves are divided, produces divided, produces considerable improvement in considerable improvement in some patientssome patients
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• A tight heel cord may be A tight heel cord may be treated by tenotomy of the treated by tenotomy of the Achilles tendonAchilles tendon
• Constraints can be applied to Constraints can be applied to the unaffected side – this the unaffected side – this induces improved hand and induces improved hand and arm functioning on the arm functioning on the affected side. This is effective affected side. This is effective in patients of all ages.in patients of all ages.
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• Use motorized wheelchairs, Use motorized wheelchairs, special feeding devices, special feeding devices, modified typewriters, and modified typewriters, and customized seating customized seating arrangementsarrangements
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• To correctTo correct anatomical anatomical abnormalities or release tight abnormalities or release tight musclesmuscles
• To help repair dislocated hips and To help repair dislocated hips and scoliosis (curvature of the spine)scoliosis (curvature of the spine)
• Dorsal rhizotomy (for severe Dorsal rhizotomy (for severe spastic diplegia)spastic diplegia)• Cut specific nerves at their roots to reduce spasticity
• Stereotactic surgery Stereotactic surgery • To improve rigidity, athetosis and tremors
• Reconstructive surgery to an armReconstructive surgery to an arm• To restore muscle balance, release contractures, and stabilize joints
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• Goal of pharmacotherapy is Goal of pharmacotherapy is to reduce symptoms (e.g. to reduce symptoms (e.g. spasticity) and prevent spasticity) and prevent complications (e.g. complications (e.g. contractures)contractures)
• 2 types of medications2 types of medications• For spasticity and abnormal movement• For seizures
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• Dopaminergic drugsDopaminergic drugs• increase dopamine levels to decrease rigidity and abnormal movements• E.g. levodopa/carbidopa
• Muscle relaxantsMuscle relaxants• Botulinium toxin A: causes mild muscle paralysis and reduce contractions• Baclofen: controls muscle contractions and relaxes tight muscles, but lowers seizure threshold• Benzodiazepines (valium) – sedation is a side-effect• Oral dantrolene sodium• Need constant follow-up
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• AnticonvulsantsAnticonvulsants• Used to terminate clinical and electrical seizure activity as rapidly as possible• Prevent seizure recurrence
• Phenobarbital or phenytoinPhenobarbital or phenytoin• Effective against partial seizures
• BenzodiazepinesBenzodiazepines• Used in acute management of seizures
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• Important to identify and manage Important to identify and manage behavioral problems early - work behavioral problems early - work with a psychologist or psychiatristwith a psychologist or psychiatrist
• Learning and attention deficit Learning and attention deficit disorders, and mental retardation disorders, and mental retardation – assessed and managed by a – assessed and managed by a psychologist and educatorpsychologist and educator
• Strabismus, nystagmus, and optic Strabismus, nystagmus, and optic atrophy are common – consult an atrophy are common – consult an ophthalmologistophthalmologist
• Promptly assess and treat lower Promptly assess and treat lower urinary tract dysfunctionurinary tract dysfunction
• Communication - Use Communication - Use Blissymbolics, talking typewriters, Blissymbolics, talking typewriters, and specially adapted computersand specially adapted computers
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• Nelson’s Textbook of Pediatrics 18th ed.• http://www.emedicinehealth.com/cerebral_palsy• http://emedicine.medscape.com