Pediatric Conditions

Enumerate Levine's Diagnostic Criteria for Cerebral Palsy

Most common antecedent for CP spastic diplegia

Kernicterus triad

Cushing's triad

Other name for cerebral palsy

Intraventricular hemorrhage grading: isolated to germinal matrix

Topographic classification of CP: cannot be classified into diplegia or quadriplegia

CP type in which visual impairments (e.g. strabismus) are common

Molnar prognosticating index (good)

Warning signs of spina bifida occulta

Ultrasound finding in spina bifida

Neural tube normally closes at

ACM type I

Neurologic level of spina bifida associated with kyphoscoliosis

Hydrocephalus triad

CP type with straphanger appearance

MC mixed type of CP

Normal ICP for neonates

Bleck's ambulation status criteria

MC level of spina bifida occulta

Associated malformation of spina bifida which is an abnormal attachment of spinal cord at the distal end due to pulling of cauda equina or conus medullaris

Displacement of cerebellum caudally with elongation and kinking of ventricles

Neurologic level of spina bifida associated with severe hip dislocation

Neurologic level of spina bifida associated with sphincter control problems

MC complication of shunt

MC orthopedic deformity in spina bifida

MC cause of death in spina bifida

MC form of hydrocephalus associated with spina bifida

Type 3 ACM

Type 4 ACM

MC knee deformity in spina bifida

Failure of closure of posterior element of spine

Neurologic level of spina bifida associated with mild hip dislocation and calcaneovalgus

Neurologic level of spina bifida associated with calcaneovarus

Neurological level of spina bifida associated with claw toes

Associated malformation of spina bifida which is defined as presentation of dysplastic neural tissue at the surface of the sac

Associated malformation with spina bifida which is a cystic defect communicating with central canal of spinal cord

Associated malformation of spina bifida which is defined as fats within the central canal of the spinal cord

Associated malformation of spina bifida which are split cords with separate meningeal coverings

Associated malformation of spina bifida which is a post neurolation defect in the sagittal cleft of the spinal cord

Associated malformation of spina bifida which is tubular cavitation in the spinal cord parenchyma lined with glial cells

Associated malformation of spina bifida which is a tubular cavitation extending to the brainstem

Etiologies of spina bifida

Bleck's ambulation status: (+) Parachute reflex, ATNR and Moro

Bleck's ambulation status: (+) parachute, (-) primitive reflexes

Resulting bladder dysfunction in spina bifida if lesion is proximal to conus medullaris

Resulting bowel dysfunction in spina bifida

Parapodium + THKAFO; wheelchair for ALL functional mobility

RGO + HKAFO; wheelchair for most functional mobility; short household ambulation; standing and walking for physiologic benefits

Orthosis recommended for L3-L4 spina bifida

Functional prognosis of L3-L4 spina bifida

Orthosis and functional prognosis of L4-S1 spina bifida

Foot/supramalleolar orthosis; household and community ambulation without limitation

Trigonocephaly (premature fusion of forehead), cleft palate, clenched fist, microphthalmia, seizure, heart problems, hearing impairment

Small mouth and jaw, small and abnormally shaped head, fluctuating muscle tone, skeletal malformation

Flat occiput, flat nasal bridge, upward epicanthal fold, atlantoaxial instability, ligamentous laxity, hypotonia, mental retardation, simian crease, short stature

XO chromosome leading to broad chest with wide set nipples, amenorrhea, absence of ovaries, webbed neck deformity (pterygium colli), and short stature

XXY chromosome leading to narrow shoulders, gynecomastia, wide pelvis, and undescended testes but normal cognition

Deletion of material in the short arm of chromosome 5 leading to hypotonia in infancy, microcephaly, hypertelorism, and high pitched cry

Involves chromosome 15 leading to insatiable appetite, overeating, malignant obesity, and type 2 DM

Gene locus for Duchene and Becker muscular dystrophy

Age of onset of DMD

Common contractures seen in DMD

ECG abnormalities in DMD

Age of onset of BMD

Emery-Dreifuss Muscular Dystrophy triad

Muscles spared in FSHMD

Mildest form of muscular dystrophy

Muscular dystrophy in which facial muscles are spared

Muscular dystrophy resulting from defect on dysferlin and sarcoglycans

Inheritance pattern of LGMD type 1

Inheritance pattern of LGMD type 2

Gene locus of FSHMD

Gene locus for type 1 EDMD

Gene locus for type 2 EDMD

Gene loci for myotonic muscular dystrophy

Decrease in acid maltase

Decrease in de Brancher enzyme

Enzyme decreased in Tarui's Disease?

Enzyme decreased in Von Gerke's Disease

Decrease in liver phosphorylase

Decrease in muscle phosphorylase

Enzyme decreased in Andersen's Disease

Congenital myopathy associated with grip and paradoxical myotonia

Congenital myopathy associated with tightness and hypertrophy of all major muscle groups

Autosomal dominant congenital myopathy associated with floppiness, congenital hip dislocation, proximal muscle weakness, malignant hyperthermia when receiving general anesthesia, lack of mitochondria in core of muscle cells upon light microscopy

Gene locus of central core disease

Muscular dystrophy not associated with cardiac abnormalities

Onset of type 1 LGMD

Triad of myotonic muscular dystrophy

MC motor disability of childhood

2nd MC motor disability of childhood

According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women of childbearing age should take each day?

According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women with previous NTD pregnancy should take each day?

According to American Academy of Pediatrics (AAP) guidelines, how much folic acid should women with high risk pregnancies (e.g. taking Valproic acid, has maternal diabetes) should take each day?

Type of spina bifida that can have associated tethered cord with development

MC type of spina bifida

Type of spina bifida associated with hydrocephalus and Chiari type 2 malformations

Absence of sacrum and portions of lumbar spine associated with maternal diabetes

Associated findings of caudal regression syndrome

Most common clinical signs and symptoms of tethered cord

Spinal cord segment typically affected in syringomyelia

Most severe symptom of Chiari type II malformation

Signs of increased ICP with open fontanelles

Signs of increased ICP with closed fontanelles

Substance to which individuals with spina bifida are allergic

Depression formed between hypertrophied posterior deltoid and infraspinatus in children with DMD

First ECG abnormality to appear in children with DMD

Facial muscles initially affected in FSHMD

Common feature is disruption of sarcolemmal membrane cytoskeleton

Skeletal muscle protein localized in muscle cell membrane

Congenital muscular dystrophy which presents in infancy with severe hypotonia, weakness, and wasting of face and limbs, occasional spasticity, large cheeks, kyphoscoliosis, microcephaly, seizures, severe mental retardation, and progressive hydrocephalus

Congenital muscular dystrophy with less prominent muscle involvement but leads to blindness at birth and early death

Congenital muscular dystrophy caused by collagen VI abnormality (absent in skeletal muscles and capillaries)

Early onset FSHD that presents in infancy and has a fairly rapid progression; associated with sensorineural hearing deficit and progressive exudative telangiectasia

Elicited by percussion of thenar eminence with a reflex hammer, giving an adduction and flexion of the thumb with slow return

Delayed opening of the hand with difficult extension of fingers following tight grip

Presents in infancy and inherited as an autosomal-dominant condition; there is an abnormality of muscle chloride channel

Reduced myotonia after repeated activity seen in children with myotonia congenita

Worsening of myotonia with exercise seen in children with paramyotonia congenita

Autosomal recessive disorder with myotonia, dwarfism, diffuse bone disease, narrow palpebral fissures, blepharospasm, micrognathia, and flattened facies

Most common glycogen storage disease

Mitochondrial disorder which presents with progressive external opthalmoplegia, retinitis pigmentosa, and complete heart block

Occurs in about 10-15% of infants born to myasthenic mothers and is due to transplacental transfer of circulating acetylcholine receptor (AchR) antibodies from the myasthenic mother to the fetus; self-limiting with symptom resolution generally occurring within two to three weeks

Usually present between 10 days to 6 months, with an acute onset of hypotonia, dysphagia, constipation, weak cry, and respiratory insufficiency; diagnosed by electrodiagnostic studies or by measuring Clostridium botulinum toxin in a rectal aspirate containing stool

Hypertrophic demyelinating peripheral neuropathy with a more severe phenotype presenting in infancy or early childhood

Group of inherited disorders characterized by weakness and muscle wasting, secondary to degeneration of both anterior horn cells of the spinal cord and brainstem nuclei without pyramidal tract involvement

SMA type which present with severe hypotonia, weak suck, weak cry, proximal weakness, absent reflexes, and respiratory failure

Slowly progressive focal motor neuron disease affecting the upper extremities and and is common in Asian populations

Progressive bulbar paralysis of childhood which presents with ptosis, facial weakness, dysphagia, normal hearing, and respiratory stridor

Spinocerebellar degeneration with onset of symptoms before 20 years old

Inheritance pattern of Friedreich's Ataxia

Gene locus of Friedreich's Ataxia

Protein implicated in Friedreich's Ataxia

Manifestations of Friedreich's Ataxia

Preconception risk factors associated with cerebral palsy

Antenatal risk factors associated with cerebral palsy

Intrapartum risk factors associated with cerebral palsy

Neonatal risk factors associated with cerebral palsy

Postnatal risk factors associated with cerebral palsy

Intraventricular hemorrhage grading: with normal ventricular size

Intraventricular hemorrhage grading: with ventricular dilation

Intraventricular hemorrhage grading: with parenchymal hemorrhage

Positive or Negative motor sign in cerebral palsy: rigidity

Positive or Negative motor sign in cerebral palsy: weakness

Positive or Negative motor sign in cerebral palsy: dystonia

Positive or Negative motor sign in cerebral palsy: ataxia

Positive or Negative motor sign in cerebral palsy: spasticity

Positive or Negative motor sign in cerebral palsy: hyperkinesia (e.g. dystonia, chorea, athetosis, myoclonus, tremors, tics, and stereotypies)

Positive or Negative motor sign in cerebral palsy: reduced selective motor control

Positive or Negative motor sign in cerebral palsy: apraxia

Gross Motor Function Classification System for cerebral palsy: walks without limitations

Gross Motor Function Classification System for cerebral palsy: walks with limitations

Gross Motor Function Classification System for cerebral palsy: walks using a hand-held mobility device

Gross Motor Function Classification System for cerebral palsy: self-mobility with limitations; may use powered mobility

Gross Motor Function Classification System for cerebral palsy: transported in a manual wheelchair

Manual Ability Classification System for cerebral palsy: handles objects easily and successfully

Manual Ability Classification System for cerebral palsy: handles most objects but with somewhat reduced quality and/or speed of achievement

Manual Ability Classification System for cerebral palsy: handles objects with difficulty; needs help to prepare and/or modify activities

Manual Ability Classification System for cerebral palsy: handles a limited selection of easily managed objects in adapted situations

Manual Ability Classification System for cerebral palsy: does not handle objects with severely limited ability to perform even simple actions

Communication Function Classification System for cerebral palsy: sends and receives information with familiar and unfamiliar partners effectively and efficiently

Communication Function Classification System for cerebral palsy: sends and receives information with familiar and unfamiliar partners but may need extra time

Communication Function Classification System for cerebral palsy: sends and receives information with familiar partners effectively, but not with unfamiliar partners

Communication Function Classification System for cerebral palsy: inconsistently sends and/or receives information even with familiar partners

Communication Function Classification System for cerebral palsy: seldom effectively sends and receives information even with familiar partners

Gait deviation seen in cerebral palsy which can be surgically managed with adductor tenotomy or myotomy with or without hamstring lengthening

Gait deviation seen in cerebral palsy caused by spasticity of the gastrocnemius muscles and can be surgically managed with gastrocnemius recession and in hemiplegics, Baker lengthening or  Achilles tendon lengthening

Decreased knee flexion range of motion throughout the gait cycle seen in cerebral palsy hemiplegia secondary to overactive rectus femoris

MC diplegic gait pattern in young children

MC diplegic gait pattern in older children

Degenerate brain and absent skull vault and scalp

Near-complete absence of neural tube closure, sometimes sparing forebrain

Neural arches of one or several vertebrae are incomplete in the lumbosacral region

Spinal cord longitudinally split

Spinal cord longitudinally duplicated

MC culprit in shunt infection

Constellation of stridor, central apnea, and aspiration seen in Chiari II malformation

Neurologic level of spina bifida without lower limb muscle function

Neurologic level of spina bifida with iliopsoas function

Neurologic level of spina bifida which has strong knee extension but lacks hip abduction

Neurologic level of spina bifida which has strong knee flexion, strong ankle dorsiflexion and inversion, and great toe extension but lacks active hip extension and ankle plantarflexion

Neurologic level of spina bifida which has active hip extension and ankle plantarflexion and eversion, but may lack foot intrinsic muscle function