Barkley review Questions with correct Solutions 2025
what sex chromosome's does one have with turner's syndrome? - ANSWER -one X
sex chromosome
What are the typical findings with turner's syndrome? - ANSWER -lymphedema,
webbed neck, low hairline, learning disabilities, lack of secondary sexual characteristics,
widely-spaced nipples, hypertension, bicuspid aortic valve, coarctation of the aorta,
infertility
management for turner's syndrome? - ANSWER -growth hormone therapy, estrogen
replacement therapy, preconception counseling if pregnancy is desired
what type of disorder is marfan's syndrome and what does it effect? - ANSWER -
inherited connective tissue disorder
-skeletal, cardiac, ophthalmic
characteristics of marfan's syndrome - ANSWER -tall stature, arms span exceeds
height, thin extremities and fingers, long narrow face, pectus carnatum (protrudes) or
excavatum (sunken), hyperextension of joints, genu recurvatum, kyphoscoliosis
(forward rounding of the spine), high arched- narrow palate, CV disorders: aortic
regurgitation, mitral valve prolapse, aortic root dilation or aneurysm; eyes: ectopia lentis
(dislocation of natural lens), irdodeonesis (iris vibrates during eye movements)
what medication is considered supportive care for marfan's syndrome? - ANSWER -
Beta-blockers- to prevent aortic rupture
what population is Tay-Sach's most likely to occur in? - ANSWER -Ashkenazie Jewish
population
at what age does deterioration begin to occur with tay-sach's disease? - ANSWER -3-6
months
what are the signs of Tay-sach's disease? - ANSWER -decreased muscle tone, cherry
red macula (eye), listlessness (little/no interest in doing anything/tired/fatigued),
blindness, deafness, seizures, dementia, vegetative state, death
what is the management for tay-sach's disease? - ANSWER -airway clearance
management (poor muscle tone), seizure management,
what causes DiGeorge syndrome? - ANSWER -partial deletion of the 22nd
chromosome
what does DiGeorge syndrome affect? - ANSWER -parathyroid glands, thymus, heart
, How does DiGeorge present? - ANSWER -increased susceptibility to infection,
abnormal facies (lateral displacement of inner canthi, short palpebral fissures (distance
between inner eye to outer eye), changes to appearance of eyes, ears, and nose)
congenital heart defects often resulting in neonatal morbidity/mortality,
hypoparathyroidism with hypocalcemia (seizures in infancy),
cognitive/behavioral/psychiatric problems
what is considered a low birth weight, very low birth weight and an extremely low birth
weight? - ANSWER -low birth weight: <2,500g
very low birth weight: <1,500g
extremely low birth weight: <1,000g
what does APGAR stand for? - ANSWER -appearance, pulse, grimace
(responsiveness, reflexes), activity (muscle tone), respiration
what is considered appropriate measurements for gestational age? - ANSWER -if they
are greater than 10th percentile and less than 90th percentile
what are some potential problems associated with small for gestational age? (SGA) -
ANSWER -congenital/chromosomal abnormalities, intrauterine infection, inborn errors
of metabolism, environmental: drugs, alcohol, nicotine, x-ray exposure, others
what is small for gestational age with asymmetric IUGR? - ANSWER -head
circumference and length within normal limits: weight <10th percentile
may be due to acute extra fetal compromise
-chronic HTN, PreE, renal disease, cyanotic heart disease, hemoglobinopathies,
abruptio placentae, multiple gestation, altitude
what are causes for large for gestational age? (LGA >90th percentile) - ANSWER -
maternal diabetes, beckwith-widemann syndrome (congenital growth disorder),
hemihypertrophy (congenital, overgrowth of one side of the body), hydrops fetalis, large
mother
what vital signs are typical for a newborn? - ANSWER -pulse: 120-160
respirations: 30-60bpm
BP: systolic: 67-84
diastolic: 35-53
what are signs of central cyanosis vs peripheral? - ANSWER -central: skin and mucous
membranes affected, including circumoral (encircling mouth), deep blue nail beds, warm
skin, may improve with oxygen therapy
peripheral: only skin affected, pale nail beds, cold and clammy skin, may improve with
warmth
what is milia? - ANSWER -pinpoint white papules on face, prominent on cheeks, nose
chin and forehead
, spontaneously disappears within the first few weeks to months of life
-if persists or widespread distribution, may indicate a genetic syndrome
what is miliaria? - ANSWER -obstructed sweat (eccrine gland) ducts; sometimes
referred to as prickly heat
what is erythema toxicum? - ANSWER -most common newborn rash
usually appears between days 2 and 5 after birth; characterized by blotchy red spots on
the skin with overlying white or yellow papules or pustles, resolves by 14th day
how many cafe au lait spots cause concern for neurofibromatosis? - ANSWER -more
than 6 spots in a child older than 5 years of age
what is a slate grey nevi? - ANSWER -mongolian spot
benign, flat, congenital birthmark with wavy borders and irregular shape. Common color
is blue, usually lasts up to 1 year after birth but may remain indefinitely: almost always
disappears by puberty
what would multiples junctional nevi's suggest? - ANSWER -moles: tuberous sclerosis,
xeroderma pigmentosus, generalized skin variations
what is a port wine stain? - ANSWER -vascular birth mark (malformation) consisting of
superficial and deep dilated capillaries in the skin; produce a reddish to purplish
discoloration of the skin: permanent.
what should you rule out with a port wine stain? - ANSWER -Sturge-webber syndrome:
serious neurological condition with seizures, musculoskeletal weakness, developmental
delays, glaucoma and others
what age does rooting reflex appear and disappear? - ANSWER -newborn, 4 m
what age does sucking reflex appear and disappear? - ANSWER -newborn, 2 months
(controls)
what ages does moro reflex appear and disappear? - ANSWER -newborn, 3-4 months
-sudden loss of support causes infants to throw hands out and then pull them back in
toward chest, crying, startle
at what age does grasp reflex appear and disappear? - ANSWER -newborn, 5-6; 1-2
years
at what age does placing/stepping reflex appear and disappear? - ANSWER -newborn,
2-5 m
at what age does tonic neck reflex appear and disappear? - ANSWER -newborn, 3
months
