ABCN Deck 5

Question 1

genetic syndrome characterized by elevated phenylaline in blood and low levels of tyrosine; untreated, it can cause significant neurological dysfunction. treated, cognitive/behavioral characteristics can include ADHD, math deficits and reduced processing speed.

Answer 1

phenylketonuria

Question 2

Benzodiazepine used to reduce spasticity, hyperreflexia, and muscle spasms in CP

Answer 2

diazepam, valium

Question 3

NF1 neuropsychological profile typically includes weaknesses in:

Answer 3

academics, attention, EF, visuospatial skills, word list generation, naming, social awkwardness; intact memory

Question 4

__% of people with NF1 have brain tumors

Answer 4

15

Question 5

___ has become the most widely used standardized measure of CP severity in children.

Answer 5

Gross Motor Function Classification System

Question 6

genetic syndrome characterized by adrenocortical insufficiency, nonverbal deficits, EF deficits, psychiatric symptoms in adulthood

Answer 6

Adrenoleukodystrophy

Question 7

___ is the leading cause of disability in childhood.

Answer 7

CP

Question 8

___ is a non-invasive method designed to qualitatively assess spontaneous movements in children born preterm through approximately 20 weeks post-term corrected age.

Answer 8

General Movement Assessment (GMA)

Question 9

genetic syndrome characterized by port wine stain, vascular malformations of the eye and brain, seizures, migraines, stroke-like episodes, ID.

Answer 9

Sturge-Weber Syndrome.

Question 10

Genetic syndrome characterized by connective tissue abnormalities, cardiovascular disease, ocular & auditory abnormalities, elfin appearance, starburst iris, irregular dentition, ID, verbal > nonverbal, hypersociability, anxiety/phobias

Answer 10

Williams Syndrome

Question 11

For CP, ___ independently by age 2 is predictive of eventual ambulation.

Answer 11

sitting

Question 12

For preterm infants, ___% of all IVH occur in the first 6 to 8 hours of life and ___% occur within the first 4 to 5 days.

Answer 12

50, 95

Question 13

__ to __% of people with NF1 have macro- or megalencephaly.

Answer 13

30 to 50

Question 14

__% of children with TSC are diagnosed with ID.

Answer 14

45

Question 15

genetic syndrome characterized by prominent ears, hyperextensive joints, flat feet, soft skin, long face, epilepsy, macroorchidism, autism, ADHD, anxiety/depression

Answer 15

Fragile X

Question 16

genetic disorder characterized by ataxic gait, epilepsy, microcephaly, prominent chin, deep set eyes, wide mouth, protruding tongue, severe ID, speech delays, happy disposition with easily provoked laughter

Answer 16

Angelman Syndrome

Question 17

___ is the 2nd most important risk factor for CP.

Answer 17

low birth weight

Question 18

up to __% of children and __% of adults with CP experience chronic pain.

Answer 18

75, 70

Question 19

80 to 90% of individuals with ___ are diagnosed with epilepsy. seizures typically begin in infancy and are often intractable.

Answer 19

TSC

Question 20

Fetal risk factors for CP Include (6)

Answer 20

multiple birth gestation, death in-utero of cotwin, male sex, IGR, brain malformations, thrombolic disorders

Question 21

genetic syndrome characterized by short stature, webbed neck, cardiovascular malformations, congential heart disease, kidney malformations, hearing loss, strabismus, hypothyroidism, infertility, ADHD, math disability, nonverbal deficits, social cognition deficits, depression in adulthood

Answer 21

Turner syndrome

Question 22

__ is the foremost risk factor for CP.

Answer 22

prematurity

Question 23

___ is a model of medical management used in NICUs. It attempts to replicate the intrauterine environment.

Answer 23

NIDCAP

Question 24

__ to __% of children with NF1 have focal areas of hyperintensity of t2-weighted MRIs.

Answer 24

60-70

Question 25

In children with NF1, UBO's frequently occur in ____ (5)

Answer 25

basal ganglia, cerebellum, thalamus, brainstem, subcortical white matter

Question 26

The ___ system connects regions of the cortex involved with motor control to muscle via the corticospinal tract. it is responsible for initating and carryibg signals that enable voluntary skilled movements.

Answer 26

pyramidal

Question 27

Diagnostic criteria for NF1 include the presence of two of the following (7):

Answer 27

6+ cafe au lait macules, 2+ neurofibromas, freckling in the armpit or groin, optic glioma, 2+ Lisch nodules, distinctive bony lesion, 1st degree relative with NF1

Question 28

_____ is the most commonly used imaging technique in the context of prematurity to detect neurological events and abnormalities.

Answer 28

serial cranial ultrasound

Question 29

which CP subtype? extrapyramidal system. hypoxic/ischemic injury with basal ganglia involvement, perinatal injury.

Answer 29

dyskinetic.

Question 30

which CP subtype? extrapyramial system. cerebellar malformation.

Answer 30

ataxic-hypotonic.

Question 31

For the preterm infant, increased ____ and ____ lead to decreased risk for long-term impairment.

Answer 31

gestational age, birth weight

Question 32

a heart condition in which the ductus arteriosus of the heart does not close

Answer 32

patent ductus arteriosus

Question 33

Which CP subtype? Pathogenesis in pyramidal motor system. unilateral MCA stroke, prenatal injury.

Answer 33

spastic hemiplegia

Question 34

which CP subtype? pathogenesis in pyramidal system. anoxia or other generalized insult/bilateral gray matter injury, prenatal in 50% of cases.

Answer 34

spastic quadriplegic.

Question 35

genetic syndrome characterized by tall stature, hypogonadism, fertitlity problems, hypophonia, clinodactyly, hyperextensible joints, flat feet, language deficits, dyslexia, ADHD, anxiety/depression

Answer 35

Klinefelter syndrome

Question 36

In children born preterm, differences are found in the following domains on neuropsych testing (9)

Answer 36

IQ, attention, processing speed, fluid verbal skills, visuospatial skills, memory, EF, motor dexterity & coordination, internalizing & externalizing behaviors

Question 37

Predictors of functional outcome for preterm infants include (8)

Answer 37

severity of medical/neurological complications, use of steroids, access to NICU/specialists, length of NICU stay, SES and other family/environmental factors, Males at greater risk, growth in NICU, brain volume

Question 38

Maternal risk factors for CP include (5):

Answer 38

ID, infection or toxic exposure during pregnancy, epilepsy, thyroid disorder, high blood pressure during pregnancy

Question 39

Neuropathology of TSC include (3)

Answer 39

cortical tubers, subependymal nodules, subependymal giant-cell astrocytomas (SEGA)

Question 40

Muscle relaxant used to treat spasticity, hyperreflexia, and muscle spasms in CP

Answer 40

baclofen/Lioresal

Question 41

the incidence of epilepsy in individuals with CP is __ to __%

Answer 41

28-50

Question 42

sleep disorders occur in __ to ___% of individuals with CP.

Answer 42

20-25

Question 43

Neuromuscular blocker used to reduce spasticity, improve range of motion

Answer 43

botulinum toxin (Botox)

Question 44

Autosomally dominant neurocutaneous disorder affecting multiple organ systems including the skin, heart, kidney, lungs, and brain. ID & autism.

Answer 44

Tuberous Sclerosis Complex

Question 45

genetic disorder characterized by hypotonia, hypogonadism, hyperphagia, obesity, almond shaped eyes, narrow temple and nasal bridge, thin upper lip, short stature, small hands and feet, ID, autism

Answer 45

Prader-Willi syndrome

Question 46

Signs of possible CP in infancy include (4)

Answer 46

persisting infantile reflex patterns, delayed motor milestones, standing well before age 12 months, strong hand preference in first 12-18 mos

Question 47

In children older than 5 months corrected age, ____ combined with neonatal MRI is more than 90% accurate in predicting CP

Answer 47

Hammersmith Infant Neurological Examination (HINE)

Question 48

Genetic syndrome characterized by cardiac defects, mild hearing loss, palatal defects, long face, small ears, narrow eyes, borderline IQ, verbal>nonverbal, anxiety, schizophrenia

Answer 48

22q11.2 deletion syndrome

Question 49

half of children with mild CP "outgrow" the disorder by age __.

Answer 49

7 years.

Question 50

which CP subtype? pathogenesis in pyramidal motor system. white matter damage of prematurity, prenatal injury.

Answer 50

spastic diplegic.

Question 51

Comorbidities commonly seen in people with NF1 include

Answer 51

LD in reading, math, written exprsesion, ADHD

Question 52

blood vessels in the retina of the eye develop abnormally; can be caused by premature birth or excessive use of oxygen after birth.

Answer 52

retinopathy of prematurity