1. Group 4

3. Patrick, 2 year old male Patrick, 2 year old male From Cavite From Cavite Referred from General Pediatrics Clinic for developmental delay Referred from General Pediatrics Clinic for developmental delay

5. Born at 43 weeks AOG via SVD (spontaneous vaginal delivery) Born at 43 weeks AOG via SVD (spontaneous vaginal delivery) 29-year old mother G1P1 (1001) 29-year old mother G1P1 (1001) Lying-in clinic in Cavite Lying-in clinic in Cavite Regular prenatal checkups Regular prenatal checkups At the health center At the health center 3 prenatal UTZ: all normal 3 prenatal UTZ: all normal (+) excessive vomiting (3rd & 4th months) (+) excessive vomiting (3rd & 4th months) (-) history of fever, bleeding, hypertension (-) history of fever, bleeding, hypertension

6. Inadequate contractions during labor Inadequate contractions during labor Born limp, cyanotic, meconium- stained  rushed to a tertiary hospital Born limp, cyanotic, meconium- stained  rushed to a tertiary hospital At the tertiary hospital: At the tertiary hospital: Intubated, admitted at ICU (for 2 weeks) Intubated, admitted at ICU (for 2 weeks) Diagnosis: pneumonia Diagnosis: pneumonia Stayed for another 2 weeks Stayed for another 2 weeks After 3 days (1 month of age): cough and difficulty of breathing  brought to PGH After 3 days (1 month of age): cough and difficulty of breathing  brought to PGH

7. PGH: PGH: Intubated for 2 days Intubated for 2 days Treated for pneumonia Treated for pneumonia After 7 days: discharged After 7 days: discharged After 1 week (1.5 months of age): readmitted for pneumonia After 1 week (1.5 months of age): readmitted for pneumonia 3 months of age: 3 months of age: Poor head control Poor head control Closed anterior fontanel Closed anterior fontanel Microcephaly Microcephaly

8. Subsequent months: Subsequent months: Head lag Head lag Absence of regard Absence of regard Episode of jerking Episode of jerking Stiffening of extremities (esp. when agitated) Stiffening of extremities (esp. when agitated) Milestones Milestones 1 year: vocalization 1 year: vocalization 14 months: Spontaneous smile 14 months: Spontaneous smile 15 months: Appear to listen to sound 15 months: Appear to listen to sound 18 months: persistence of stiffening diagnosed as epilepsy 18 months: persistence of stiffening diagnosed as epilepsy

9. Respiratory infection: at least once a month Respiratory infection: at least once a month Dyshidrotic eczema: diagnosed at 1 yr. of age Dyshidrotic eczema: diagnosed at 1 yr. of age

10. (-) similar neurodevelopmental illness (-) similar neurodevelopmental illness (+) Asthma: mother and materal aunt (+) Asthma: mother and materal aunt (+) HPN: maternal grandmother (+) HPN: maternal grandmother

11. Father Father 29 years old Security guard High school graduate Mother Mother 30 years old Housewife High school graduate Brother Brother 8 years old Grade 3 student

12. 0-3 months: breastfed 0-3 months: breastfed Then gven Bonna at 1:2 dilution Then gven Bonna at 1:2 dilution (+) regurgitation of milk (+) regurgitation of milk 6 months: given cereal  thrusted out  ricewater (“am”) + milk instead 6 months: given cereal  thrusted out  ricewater (“am”) + milk instead Currently on Bonamil + am Currently on Bonamil + am 6oz. Nine times/day Slightly thickened solution

13. 0-3 months: breastfed 0-3 months: breastfed Then gven Bonna at 1:2 dilution Then gven Bonna at 1:2 dilution (+) regurgitation of milk (+) regurgitation of milk 6 months: given cereal  thrusted out  ricewater (“am”) + milk instead 6 months: given cereal  thrusted out  ricewater (“am”) + milk instead Currently on Bonamil + am Currently on Bonamil + am 6oz. Nine times/day Slightly thickened solution

15. PARAMETER PATIENT VALUES NORMAL VALUES (1- 3 y.o.) INTERPRETATION Respiratory Rate 40 breaths/min20-30Tachypneic TemperatureAfebrile Weight 7.7 Kg (<5 th percentile) ≈ 12 KgModerate wasting Height 73 cm (<5 th percentile) ≈ 92 cmModerate stunting Head circumference 35 cm45-50 cmmicrocephaly

16. FINDINGSINTERPRETATION Closed fontanelles Premature closure at 3 months (Normal: 18 months) Flattened occiput Minimal head movement due to poor head control Ankyloglossia Toungue-tied – decreased mobility and oromotor dysfunction (+) thick mucoid nasal secretions Aspiration Pneumonia because of oromotor dysfunction Equal chest expansion Occasional retractions (+) rhonchi on both lung fields Stiff extremitiesHypertonic Normal cardiovascular examNormal Normal genitaliaNormal (+) discrete macupapular erythematous lesions Eczema?

18. Parameter Pertinent Findings InterpretationSensorium Hyperalert Smiles without regardDelayed for age Cranial 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 blindness Intact oculocephalic reflex (As an individual turns their head to the right, the eyes will deviate left top stay focused on the same target) Motor Spastic on all extremities Flexion contractures Spontaneous non-purposeful movements on all extremities Spastic quadriplegia Reflexes DTR +++ : hyperreflexia (normal is ++) (+) bilateral Babinski (may be normal) Asymmetric tonic neck reflex No clonus UMN lesion Persistence of 1O reflex

19. Domain Patient’s Skill Appropriate Age Interpretation Gross motor No head control3 months Development is delayed Fine motor No visual tracking (following objects) 6 months Receptive language Quietens to sound and voice 12 months Expressive language Vocalizes2 months Social/ Adaptive Smiles spontaneously1 month

21. 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

22. Rule inRule 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

23. Rule inRule 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

24. Rule inRule out – Motor features: Poor head control and lag Involuntary movements – Non-motor features: Cognitive impairment Absence of cardinal signs: rest tremor, rigidity (hypotonic), bradykinesia

25. DifferentialRule inRule 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

26. Rule inRule 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

27. DifferentialsRule inRule 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

28. DifferentialsRule inRule 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?

29. DifferentialsRule inRule out Cord Transection Spinal 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

35. Describes a group of disorders of movement and posture, limiting activity, attributed to non-progressive underlying brain pathology. Describes a group of disorders of movement and posture, limiting activity, attributed to non-progressive underlying brain pathology. The motor disorders of CP are often accompanied by disturbances of sensation, cognition, communication, perception, and/or behavior, or by a seizure disorder. The motor disorders of CP are often accompanied by disturbances of sensation, cognition, communication, perception, and/or behavior, or by a seizure disorder. Brain lesions of CP occur from the fetal or neonatal period to up to age 3 years Brain lesions of CP occur from the fetal or neonatal period to up to age 3 years

36. The etiology of CP is not well understood and is thought to be associated with prenatal, perinatal, or postnatal events of varying causes. The etiology of CP is not well understood and is thought to be associated with prenatal, perinatal, or postnatal events of varying causes. Risk factors for CP are multifactorial. Risk factors for CP are multifactorial. Prevalence Prevalence In developed countries: about 2-2.5 cases per 1000 live births In developed countries: about 2-2.5 cases per 1000 live births In developing countries: about 1.5-5.6 cases per 1000 live births. In developing countries: about 1.5-5.6 cases per 1000 live births.

38. Failure to meet expected developmental milestones or failing to suppress obligatory primitive reflexes. Failure to meet expected developmental milestones or failing to suppress obligatory primitive reflexes. Abnormalities in muscle tone. Abnormalities in muscle tone. Definite hand preference before age 1 year is a red flag for possible hemiplegia. Definite hand preference before age 1 year is a red flag for possible hemiplegia. Asymmetric crawling or failure to crawl also may suggest cerebral palsy. Asymmetric crawling or failure to crawl also may suggest cerebral palsy.

39. Joint contractures secondary to spastic muscles Joint contractures secondary to spastic muscles Hypotonic to spastic tone Hypotonic to spastic tone Growth delay Growth delay Persistent primitive reflexes Persistent primitive reflexes Gait pattern abnormalities Gait 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

40. Spastic (70-80%) – Increased deep tendon reflexes, sustained clonus, hypertonia, and the clasp-knife response Spastic (70-80%) – Increased deep tendon reflexes, sustained clonus, hypertonia, and the clasp-knife response Dyskinetic (10-15%) – Fluctuating tone, rigid total body involvement by definition. Persistent primitive reflex patterns (asymmetric tonic neck reflex, labyrinthine) Dyskinetic (10-15%) – Fluctuating tone, rigid total body involvement by definition. Persistent primitive reflex patterns (asymmetric tonic neck reflex, labyrinthine) Ataxic (<5%) – characterized by cerebellar signs (ataxia, dysmetria, past pointing, tremor, nystagmus) and abnormalities of voluntary movement Ataxic (<5%) – characterized by cerebellar signs (ataxia, dysmetria, past pointing, tremor, nystagmus) and abnormalities of voluntary movement

41. Mixed - no single specific tonal quality predominating; mixture of spastic and dyskinetic components Mixed - no single specific tonal quality predominating; mixture of spastic and dyskinetic components Hypotonic - truncal and extremity hypotonia with hyperreflexia and persistent primitive reflexes; thought to be rare Hypotonic - truncal and extremity hypotonia with hyperreflexia and persistent primitive reflexes; thought to be rare

42. Sensory: Sensory: Sensorineural and conductive hearing loss Sensorineural and conductive hearing loss Impaired visual acuity Impaired visual acuity Oculomotor dysfunction Oculomotor dysfunction Strabismus Strabismus Cortical visual impairment Cortical visual impairment Somatosensory impairments Somatosensory impairments Neurologic: Neurologic: Seizures Seizures Hydrocephalus Hydrocephalus

43. Cognitive and linguistic: Cognitive and linguistic: Mental retardation Mental retardation High incidence of language and learning disabilities High incidence of language and learning disabilities Dysarthria Dysarthria Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder Sleep and behavioral disturbances Sleep and behavioral disturbances Musculoskeletal: Musculoskeletal: Contractures Contractures Hip dislocation Hip dislocation scoliosis scoliosis

44. Cardiorespiratory: Cardiorespiratory: Upper airway obstruction Upper airway obstruction Aspiration pneumonitis Aspiration pneumonitis GI/Nutritional: GI/Nutritional: Poor growth Poor growth Gastroesophageal reflux Gastroesophageal reflux Constipation Constipation Dysphagia Dysphagia

45. One-sided upper motor neuron deficit Arm generally affected more than leg; possible early hand preference or relative weakness on one side Gait characterized by circumduction of lower extremity on affected side Specific learning disabilities Oromotor dysfunction Possible unilateral sensory deficits Visual-field deficits (eg, homonymous hemianopsia) and strabismus Seizures

46. Upper motor neuron findings in the legs more than the arms. Little or no functional limitation of the upper extremities. Scissoring gait pattern with hips flexed and adducted, knees flexed with valgus, and ankles in equinus, resulting in toe walking Delay in developing gross motor skills.

47. All limbs affected, either full-body hypertonia or truncal hypotonia with extremity hypertonia Oromotor dysfunction Increased risk of cognitive difficulties Multiple medical complications Seizures Legs generally affected equally or more than arms

48. Early hypotonia with movement disorder emerging at age 1-3 years Arms more affected than legs Deep tendon reflexes usually normal to slightly increased Some spasticity Oromotor dysfunction Gait difficulties Truncal instability Risk of deafness in those affected by kernicterus

49. Hypotonic Tremors Motor skills might be affected( i.e. writing, typing, or using scissors) Difficulty in balance esp. while walking Difficulty with visual and/or auditory processing

51. <10% children with CP: evidence of intrapartum asphyxia <10% children with CP: evidence of intrapartum asphyxia Associated with increased risk of CP in normal birthweight infants: intrauterine exposure to maternal infection Associated with increased risk of CP in normal birthweight infants: intrauterine exposure to maternal infection Prevalence of CP is increased among low birthweight infants, particularly those weighing <1,000 g at birth : because of intracerebral haemorrhage and periventricular leukomalacia (PVL) Prevalence of CP is increased among low birthweight infants, particularly those weighing <1,000 g at birth : because of intracerebral haemorrhage and periventricular leukomalacia (PVL)

52. Believed to be caused by non- progressive disturbances in the immature and still developing fetal or infant brain Believed to be caused by non- progressive disturbances in the immature and still developing fetal or infant brain Insult to immature brain (before birth to postnatal period)  if immediately after postnatal period may be due to hypoxic-ischemic encephalopathy  cerebral insult  altered muscle tone, muscle stretch reflexes, primitive reflexes, postural ractions Insult to immature brain (before birth to postnatal period)  if immediately after postnatal period may be due to hypoxic-ischemic encephalopathy  cerebral insult  altered muscle tone, muscle stretch reflexes, primitive reflexes, postural ractions Cerebral insults may be vascular, hypoxic-ischemic, metabolic, infectious, toxic, teratogenic, traumatic, and genetic in nature Cerebral insults may be vascular, hypoxic-ischemic, metabolic, infectious, toxic, teratogenic, traumatic, and genetic in nature

53. MOTOR SYNDROMENEUROPATHYMAJOR 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

54. Spastic Hemiplegia Spastic Hemiplegia focal cerebral infarction secondary to intrauterine or perinatal thromboembolism related to thrombophilic disorders, especially anticardiolipin antibodies, is an important cause Spastic Diplegia Spastic Diplegia the most common neuropathologic finding is periventricular leukomalacia, particularly in the area where fibers innervating the legs course through the internal capsule

55. Spastic Quadriplegia Spastic 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/ Extraoyramidal CP Athetoid/Chorioathetoid/ Extraoyramidal CP if secondary to acute intrapartum near- total asphyxia is associated with bilateral symmetric lesions in the posterior putamen and ventrolateral thalamus

57. 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

58. Physical therapy – to develop muscle strength, flexibility and strength Physical therapy – to develop muscle strength, flexibility and strength Occupational therapy – to help learn physical skills needed to function in everyday life Occupational therapy – to help learn physical skills needed to function in everyday life Recreational therapy Recreational therapy Orthotic devices such as ankle foot orthoses Orthotic devices such as ankle foot orthoses Speech therapy – to overcome speech problems Speech therapy – to overcome speech problems Psychotherapy Psychotherapy

59. Teach the parents how to work with their child in daily activities such as feeding, dressing, bathing, and playing in ways that limit the effects of abnormal muscle tone. Teach the parents how to work with their child in daily activities such as feeding, dressing, bathing, and playing in ways that limit the effects of abnormal muscle tone. Instruct the parents in the supervision of a series of exercises designed to prevent the development of contractures, especially a tight Achilles tendon. Instruct the parents in the supervision of a series of exercises designed to prevent the development of contractures, especially a tight Achilles tendon.

60. Use walkers, poles, and standing frames Use walkers, poles, and standing frames Surgery may be considered to reduce muscle spasm around the hip girdle (adductor tenotomy or psoas transfer and release) Surgery may be considered to reduce muscle spasm around the hip girdle (adductor tenotomy or psoas transfer and release) Rhizotomy procedure – roots of the spinal nerves are divided, produces considerable improvement in some patients Rhizotomy procedure – roots of the spinal nerves are divided, produces considerable improvement in some patients

61. A tight heel cord may be treated by tenotomy of the Achilles tendon A tight heel cord may be treated by tenotomy of the Achilles tendon Constraints can be applied to the unaffected side – this induces improved hand and arm functioning on the affected side. This is effective in patients of all ages. Constraints can be applied to the unaffected side – this induces improved hand and arm functioning on the affected side. This is effective in patients of all ages.

62. Use motorized wheelchairs, special feeding devices, modified typewriters, and customized seating arrangements Use motorized wheelchairs, special feeding devices, modified typewriters, and customized seating arrangements

63. To correct anatomical abnormalities or release tight muscles To correct anatomical abnormalities or release tight muscles To help repair dislocated hips and scoliosis (curvature of the spine) To help repair dislocated hips and scoliosis (curvature of the spine) Dorsal rhizotomy (for severe spastic diplegia) Dorsal rhizotomy (for severe 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 arm Reconstructive surgery to an arm To restore muscle balance, release contractures, and stabilize joints

64. Goal of pharmacotherapy is to reduce symptoms (e.g. spasticity) and prevent complications (e.g. contractures) Goal of pharmacotherapy is to reduce symptoms (e.g. spasticity) and prevent complications (e.g. contractures) 2 types of medications 2 types of medications For spasticity and abnormal movement For seizures

65. Dopaminergic drugs Dopaminergic drugs increase dopamine levels to decrease rigidity and abnormal movements E.g. levodopa/carbidopa Muscle relaxants Muscle 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

66. Anticonvulsants Anticonvulsants Used to terminate clinical and electrical seizure activity as rapidly as possible Prevent seizure recurrence Phenobarbital or phenytoin Phenobarbital or phenytoin Effective against partial seizures Benzodiazepines Benzodiazepines Used in acute management of seizures

67. Important to identify and manage behavioral problems early - work with a psychologist or psychiatrist Important to identify and manage behavioral problems early - work with a psychologist or psychiatrist Learning and attention deficit disorders, and mental retardation – assessed and managed by a psychologist and educator Learning and attention deficit disorders, and mental retardation – assessed and managed by a psychologist and educator Strabismus, nystagmus, and optic atrophy are common – consult an ophthalmologist Strabismus, nystagmus, and optic atrophy are common – consult an ophthalmologist Promptly assess and treat lower urinary tract dysfunction Promptly assess and treat lower urinary tract dysfunction Communication - Use Blissymbolics, talking typewriters, and specially adapted computers Communication - Use Blissymbolics, talking typewriters, and specially adapted computers

68. Nelson’s Textbook of Pediatrics 18 th ed. http://www.emedicinehealth.com/cerebral_palsy http://emedicine.medscape.com