Case 28: 18MO - Cerebral Palsy

Question 1

Describe the developmental delay associated with the condition: autism spectrum disorder

Answer 1

social interactions

Question 2

Describe the developmental delay associated with the condition: cerebral palsy

Answer 2

motor dysfunction (mostly)
and all else

Question 3

Describe the developmental delay associated with the condition: genetic and metabolic d/o

Answer 3

global delay

Question 4

autism spectrum disorder

• prevalence:
• mean age of first evaluation:
• when should routine screening for ASD be done: what is the screening tool:

Answer 4

• prevalence: 0.6%
• mean age of first evaluation: 48mo
• when should routine screening for ASD be done: 18-24mo
• what is the screening tool: M-CHAT (for 16-30mo)

Question 5

Diffdx for developmental delay in toddlers (18mo)

Answer 5

• bronchopulmonary dysplasia (BPD) == chronic lung dz –> increased caloric requirements, repeated pulmonary infections, CHF ==> underlying neuro problems / repeated hospitalizations ==> POOR GROWTH, GLOBAL DELAY
• retinopathy of prematurity (<1.2-1.5kg) == rare extraretinal fibrovascular proliferation +/- retinal detachment, blindness ==> VISUAL DELAY
• hyperbilirubinemia / kernicterus (esp. in preterm, very ill) ==> SENSORINEURAL HEARING LOSS; MOTOR DELAY (choreathetoid cerebral palsy)
• periventricular leukomalacia (PVL) == damage to white matter surrounding lateral ventricles d/t intraventricular hemorrhage from vessels of neuronal/glial-proliferation zone-germinal matrix (esp. preterm)==> HYPOXIA, ISCHEMIA, INFLAMMATION
• PVL + cysts ==> CEREBRAL PALSY
• stress == temper tamtrums, sleep disturbances, refusal to eat, slowed language acquisition, increased dependency / enuresis / encopresis, transiet developmental remission

Question 6

does GERD cause developmental delay?

Answer 6

NO – more growth delay d/t esophagitis / failure to retain sufficient calories (d/t vomiting)

== more in premature infants d/t physiologic incompetent LES

Question 7

risks associated with prematurity

Answer 7

premature (<37w)

• cerebral palsy
• retinopathy of prematurity
• poor respiratory function
• GERD == d/t physiologic incompetent LES
• hyperbilirubinemia
• necrotizing enterocolitis
• hypoglycemia
• poor weight gain

Question 8

signs of muscle tone abnormalities

Answer 8

• spasticity == increased muscle resistance (more with faster speed of passive movement)
• increased muscle tone == toe-walking; decreased ankle dorsiflexion
• low muscle tone == slumped posture, poor head control, soft muscles, “floppy baby”
• persistently closed hands / cortical thumbs (thumbs held in palm within fingers) == CNS dysfunction

Question 9

Cerebral palsy

• define
• prevalence:
• types:
• sxs:
• risks:

Answer 9

• define: non-progressive d/o with motor and postural dysfunction ==> d/t abnormalities of the developing brain
• prevalence: 0.2%
• sxs:
  1) increased leg tone (refusal to sit) with decreased ROM of hips, increased DTRs in LE, + Babinski (esp if >2yo), b/l ankle clonus
  2) spasticity
  3) delayed language, other developmental milestones (learning)
  +/- sensory impairments
  +/- seizures
• types: SPASTIC DIPLEGIA (esp. in premies) == increased tone, spasticity involve the LE
• complications: further involvement of the rest of the body; MSK problems (hip dysplasia, scoliosis, calf muscle shortening), myopia, strabismus, hearing loss, cognitive impairment

Question 10

importance of “corrected age”

Answer 10

== referring to premature infant

Refer to the “age” of the patient by the time they SHOULD have been born @ 40w
(not as important in term / post-term infants) == b/c not looking for those risks
1) for growth parameters
2) for developmental progress

Question 11

important developmental delay questions to ask in 18mo kids (things that you would expect at this age)

Answer 11

• “he always seems to be standing?” == those who prefer to stand v. sit ==>? abnormally tight muscles (neuromuscular d/o)
• “a favorite toy?” == those with intense interest in one “toy”/object (to exclusion of others) is atypical at this age ==> underlying developmental d/o
• “demonstrate handedness?” == usually develop handedness @ 18-24mo ==> indicate weakness of one side
• “how much does your child talk” / “how much does he understand of what you say?” == sentence length = age in years (2yo = 2 sentence words) ==> delay in expressive / receptive language
• “get along with his/her siblings?”== difficult interactions / lack of interest with family members
• “how does he do with people he doesn’t know?” == too familiar / too resistant in interacting
• “play games?” == lack of interest in sharing toys / engaging in activities with others
• “imitate what you do (cleaning/cooking)” == lack of mimicry is atypical
• “any loss of skills that had previously developed” == regression in milestones
• “any developmental concerns in the past” == previously apparent to the provider, or is this the first time.

Question 12

causes of delay in expressive / receptive language

Answer 12

• hearing deficit

- adaptive / behavioral response to environment

Question 13

how to assess in a toddler (18mo) : mental status

Answer 13

• interaction with caregiver
• interact with examiner
• alert / sleepy / arousable

Question 14

how to assess in a toddler (18mo) : cranial nerve exam

Answer 14

• CN 3, 4, 6== move flashlight or toy around
• CN 7 == facial symmetry (esp. when cry)
• CN 8 == mechanical watch / rubbing fingers together, to see if they turn their heads
• CN 9, 10 == palate elevate symmetrically, and tongue protrude
• CN 9, 10, 11 == voice

Question 15

how to assess in a toddler (18mo) : muscle tone

Answer 15

• full ROM, resting state of muscle (nml / increased / decreased) == play with arms and legs
• asymmetry == resting posture of extremities and trunk (in equal/neutral position)

Question 16

how to assess in a toddler (18mo) : muscle strength

Answer 16

• obvious muscle weakness during play
• degree of resistance during physical exam maneuvers
• any asymmetry of muscle bulk

Question 17

how to assess in a toddler (18mo) : DTRs

Answer 17

• fingers to tap tendons
• note vigorousness of response
• asymmetry in DTR + tone + muscle bulk
• Babinski: stroke bottom of foot

Question 18

how to assess in a toddler (18mo) : cerebellar

Answer 18

• normal balance?
• smooth coordinated movements?
• asymmetry?

Question 19

diffdx of delay in motor development

Answer 19

• metabolic d/o == esp. w/ Fhx of infant death
• chromosomal/genetic abn d/o == esp. w/ Fhx of infant death
• congenital hypothyroidism == decreased activity
• cerebral palsy == structural abn / brain injury
• neurodegenerative disorder == regression / loss of achieved milestones
• myopathy == weakness (esp at birth)

Question 20

assessment of child with cerebral palsy

Answer 20

1) H and P == static v. progressive v. degenerative
2) SCREENING == developmental delays, visual abnormalities, hearing problems, speech / language d/o, d/o of oral-motor fx
3) MRI>CT == etiology for cerebral palsy
4) METABOLIC/GENETIC TESTING == if no structural abnormality
5) DEVELOPMENTAL TESTING

Question 21

when do kids typically start walking?

and how do they usually walk

Answer 21

9-17mo

1) wide-based gait, waddling, intermittent toe walking
2) narrowed, arms will come down+ reciprocal arm movements; decreased waddling at hip; more knee and ankle movement

3) @ 3yo == heel strike
4) 3-4yo == in-toeing (as normal)
5) <8yo == flat feet (pedal arch develops @ 8y)

Question 22

Which of the following domains are commonly included in standardized frameworks for developmental surveillance and screening? (Select all that apply.)

 Multiple Choice Answer:
A		Gross motor	
B		Chromosomes	
C		Personal-social	
D		Problem-solving	
E		Teacher surveys	
F		Fine motor	
G		Communication

Answer 22

A		Gross motor	
C		Personal-social	
D		Problem-solving	
F		Fine motor	
G		Communication

Question 23

At what ages does the AAP recommend that developmental screening be performed? (Check all that apply)

 Multiple Choice Answer:
A		2 months	
B		4 months	
C		6 months	
D		9 months	
E		12 months	
F		15 months	
G		18 months	
H		24 months	
I		30 months

Answer 23

9, 18, 24, 30

Question 24

Question
Which of the following problems seen in preterm infants are risk factors for developmental delay?

 Multiple Choice Answer:
A		Bronchopulmonary dysplasia	
B		Retinopathy of prematurity	
C		Hyperbilirubinemia	
D		Periventricular leukomalacia	
E		Gastroesophageal reflux

Answer 24

at risk for all of these, but only some cause developmental delay
a, b, c, d

Question 25

kiddo is hearing both english and italian at home. are there concerns for developmental delays?

Answer 25

No
- bilingual kids have temporary delays in expressive language

==> should be able to sort them out by age 2
+ ease of later langauge acquisition

Question 26

Of the following known risk factors for cerebral palsy, which has the highest incidence?

 Multiple Choice Answer:
A		Perinatal asphyxia	
B		Chorioamnionitis	
C		Prematurity	
D		Intrauterine growth retardation

Answer 26

prematurity

Question 27

diffdx: intellectual disability + chromosomal abnormality

Answer 27

• Trisomy 21 / Down Syndrome ==> hypotonia, prominent epicanthal folds, Brushfield spots (gray/yellow spots @ periphery of iris), small ears, small nose, loose nuchal skin
• Turner syndrome == females with proportionate short stature and primary amenorrhea
• XXY, Klinefelter == males with small testes, gynecomastia
• Fragile X syndrome == males with macroorchidism (esp after puberty)

Question 28

signs and sxs: intellectual disability + inborn errors of metabolism

Answer 28

infants == lethargy, hypothermia (r/out sepsis)

older children == lethargy, vomiting and coma, developmental regression, chronic vomiting

Question 29

spastic diplegia

• define:
• sxs:
• general pattern of involvement:
• classic etiology:
• PMH:

Answer 29

• define: most common type of cerebral palsy
• general pattern of involvement: legs&raquo_space; arms
• classic etiology: periventricular white matter abnormality
• PMH: premature infants

Question 30

treatment of cerebral palsy

- f/up

Answer 30

• speech and physical therapy (assistive walking devices)
• parent groups

F/UP

• with MSK/ortho ==> baseline AP pelvis x-ra7
• vision screening
• hearing assessment
• q6mo

Question 31

intellectual disability

• define:
• prevalence:
• therapy:
• “causes”:

Answer 31

• define:
  1) significant degree of cognitive impairment
  2) significant degree of impaired adaptive fx
  3) both <18y
• prevalence: 2.5% (mild-severe)
• therapy: supportive/symptomatic
• “causes”: Down’s, Fetal alcohol syndrome, Fragile X syndrome

Question 32

most common cause of intellectual disability

Answer 32

fragile X syndrome (Males > females)
+ macroorchidism (after puberty)
+ behavioral problems (hyperactivity, gaze avoidance, autistic behavior)

Question 33

spastic quadriplegia

• define:
• sxs:
• general pattern of involvement:
• classic etiology:
• PMH:

Answer 33

• define: major type of cerebral palsy
• general pattern of involvement: entire body ==> spasticity, clonus, and exaggerated tendon jerks throughout their bodies
• classic etiology: global brain abnormalities
• PMH: various

Question 34

dyskinetic cerebral palsy (athetoid, dystonic)

• define:
• sxs:
• general pattern of involvement:
• classic etiology:
• PMH:

Answer 34

• define: major type of cerebral palsy
• general pattern of involvement: variable, often entire body
• classic etiology: basal ganglia, cerebellum and/or thalamus abnormalities
• PMH: perinatal asphyxia, kernicterus

Question 35

(spastic) hemisplegia
- define:
- sxs:
- general pattern of involvement:
- classic etiology:
- PMH:

Answer 35

• define: major type of cerebral palsy
• general pattern of involvement: arm and leg on one side
• classic etiology: U/L UMN abnormalities
• PMH: stroke

Question 36

ataxic cerebral palsy

• define:
• sxs:
• general pattern of involvement:
• classic etiology:
• PMH:

Answer 36

• define: major type of cerebral palsy
• general pattern of involvement: entire body
• classic etiology: cerebellar abnormalities
• PMH: cerebella hypoplasia, pontocerebellar hypoplasia

Question 37

MRI findings in cerebral palsy

Answer 37

Irregularly shaped ventricles and increased FLAIR signal indicating periventricular leukomalacia . Thinned corpus callosum

Question 38

risk factors for cerebral palsy

Answer 38

• risks: , prematurity, IUGR, chorioamnionitis, perinatal asphyxia, acute intrapartum hypoxia, prolonged labor, hypoxia, post-natal treatment with
  corticosteroids

==> hypoxia, ischemia and/or inflammation

Question 39

When you are at your preceptor’s office, you are told to see Amy, a 20-month-old female diagnosed with cerebral palsy (CP) at the last visit. Your preceptor knows that you just had your lecture on CP and tries to have you figure out which type of CP Amy has. She tells you that Amy was born at full term but had severe jaundice and required extensive treatment for hyperbilirubinemia, including an exchange transfusion. She now has slow and uncontrolled movements throughout her body. Her brain MRI shows some atrophy of the basal ganglia. What type of CP does Amy have?

 Single Choice Answer:
Please select one answer.  
A		Dyskinetic cerebral palsy	
B		Spastic diplegia	
C		Spastic quadriplegia	
D		Spastic hemiplegia	
E		Ataxic cerebral palsy

Answer 39

A

full term
concerns of kernicterus

all over the body
basal ganglia atrophy

NOT

• spastic diplegia (legs)
• spastic hemiplegia (stroke)
• ataxic cerebral palsy (cerebellar problem)

dyskinetic CP is associated with kernicterus, due to hyperbilirubinemia, as well as findings of basal ganglia pathology on imaging. Patients typically have motor abnormalities throughout the body. Dyskinetic CP is also associated with perinatal asphyxia and can involve the thalamus and cerebellum on imaging.

Question 40

Johnny is brought to your office by his parents for his 18-month well child check. His family recently moved into town, and this is the first time you are seeing him. Per mom, he was born at 32 weeks, and the details of his neonatal course are not clear. Parents share that he is not walking and they are very concerned. Johnny has met his social and language developmental milestones. Physical exam reveals spasticity, exaggerated deep tendon reflexes, and clonus in both of his lower extremities. An MRI of the brain is ordered, and the radiologist reports findings of periventricular leukomalacia. What is the most likely diagnosis?

 Single Choice Answer:
Please select one answer.  
A		Niemann-Pick disease	
B		Spastic diplegia	
C		Athetoid cerebral palsy	
D		Autism spectrum disorder

Answer 40

B

2 months early

lower extremities
periventricular leukomalacia

Spastic diplegia is a form of cerebral palsy, a non-progressive static encephalopathy characterized by delays in motor development. It may be associated with periventricular white matter abnormalities that are thought to be due to ischemia. These changes can be visualized on MRI. In spastic diplegia, the motor abnormalities are often greater in the legs than in the arms.

Question 41

A 15-month-old is able to stand on his own, walk backward, and throw objects underhand. He is unable to draw/scribble or grasp markers. He can say one syllable words “ma” and “da” but his words are unintelligible. He holds a sippy cup with help. He does come when called, plays with a ball and waves bye-bye by imitating his parents. Does this baby have developmental delay, and, if so, within which domains?

 Single Choice Answer:
Please select one answer.  
A		Normal variant	
B		Gross motor and fine motor delay	
C		Fine motor and language delay	
D		Language delay and gross motor	
E		Social and language delay

Answer 41

C.

gross motor = good
fine motor = good
communication == a little poor
social == mimic
problem solving == follows commands

A 15-month-old child should be able to scribble, use a cup, and/or stack 2 blocks. His word count should be three to six words at this stage of development.

Question 42

An 18-month-old male comes to the clinic for a well-child check. His mother says he is a happy boy and endorses no complaints. She notes that he was born a few weeks early via emergency C-section and spent two months in the NICU. She says he is feeding well and gaining weight. When you ask about developmental milestones, you find out that that he pulls himself up to stand, but is not walking yet. He has several words and is interactive. There is no family history of disease during infancy. He is up to date on his immunizations. He is one of five children and his parents are currently experiencing difficult financial times. Exam reveals increased tone and hyperreflexia in his lower extremities. What is the most likely diagnosis of his developmental delay (if any)?

 Single Choice Answer:
Please select one answer.  
A		Cerebral palsy	
B		Normal variant	
C		Metabolic disorder	
D		Genetic abnormality	
E		Psychosocial stress reaction

Answer 42

A

premie

15mo?

• pull to stand
• several words

Children with cerebral palsy often present with defects in motor development and are often found to have abnormal neuromuscular exams, including increased tone and reflexes. Other areas of development are less consistently impacted. The cerebral palsy most likely was the result of an hypoxic injury during the perinatal period.

unlikely psychosocial because of his persistence of developmental delay and lack of behavioral changes (temper tantrum, sleep disturbance, etc.). Temporary loss of developmental achievements can be seen in times of stress.