Ch 10 - Peds: Genetics and Milestones Flashcards

1
Q

What are signs of Trisomy 21 (Down syndrome)?

A
Upward slant of palpebral fissures
Brushfield spots of iris
Protruding tongue
3rd fontanelle
Low-set auricles
Excess nuchal skin
Single palmar (simian) crease
Single flexion crease and incurving (clinodactyly) of 5fth fingers
Inc distance b/w 1st and 2nd toes
Mottling of skin
Hypotonia, 
CHD such as endocardial cushion defect, ventricular septal  and VSD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are signs of Trisomy 18 (Edward’s syndrome)?

A
IUGR
Short palpebral fissures
Small mouth
Micrognathia
Low-set ABN auricles
Prominent occiput
Short sternum
2nd digit overlapping 3rd and 4th over 4th
Hypoplastic fingernails
Rocker-bottom feet
CHD
Spasticity
Feeding problems/ failure to thrive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are signs of Trisomy 13 (Patu’s syndrome)?

A
IUGR in all 3 parameters
Coloboma of iris (pupil of keyhole shape)
Capillary hemangioma
Skin defect of skull
Hyperconvex nails
Polydactyly
Rocker-bottom feet
Arrhinencephaly
Cleft lip and palate
CHD
Urinary tract ABN
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are signs of Turner’ syndrome (45,X)?

A
Short stature
Triangular face
ABN shape of ears
Webbed neck
Broad “shield” chest
Wide-set nipples
Congenital lymphedema of hands and feet
Shortened 4th and 5th metacarpals and metatarsals
Cubitus valgus
Primary amenorrhea
CHD especially coarctation of aorta
Mostly normal IQ
Infertility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are signs of Klinefelter’s syndrome (47,XXY)?

A
Tall stature
Post-pubertally small testicles
Gynecomastia
Eunuchoid build
Inc risk for mild MR
Learning and behavior problems
Infertility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What prenatal diagnostic tests are included at 14-16 weeks pregnancy?

A

Amniocentesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What prenatal diagnostic tests are included at 9-10 weeks pregnancy?

A

Chorionic villi sampling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the TORCHES infections?

A
Toxoplasmosis
Other agents such as varicella virus or parvovirus
Rubella virus, Cytomegalovirus
Herpes virus/HIV
Syphilis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

When do the biggest changes in bone mass occur?

A

Girls: 12 to 15 yo
Boys: 14 to 17 yo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the earliest markers of abnormal neurological maturation?

A

Obligatory or persistent primitive reflexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are Gross Motor Milestones seen in Newborns?

A

Flexor tone predominates
In prone, turns head to side
Automatic reflex walking
Rounded spine when held sitting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are Fine Motor Milestones seen in Newborns?

A

Hands fisted
Grasp reflex
State-dependent ability to fix and follow bright object

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are Personal/Social Milestones seen in Newborns?

A

Habituation and some control of state

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are Speech and language Milestones seen in Newborns?

A

Cry

State-dependent quieting and head turning to rattle or voice

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are Cognitive Milestones seen in Newborns?

A

Sensorimotor 0 to 24months

Reflex stage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are Emotional Milestones seen in Newborns?

A

Basic trust versus basic mistrust (firstyear)

Normal symbiotic phase—does not differentiate self and mother

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are Gross Motor Milestones seen at 4 Months?

A

Head midline
Head held when pulled to sit
In prone position, lifts head to 90° and lifts chest slightly
Turns to supine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are Fine Motor Milestones seen at 4 Months?

A

Hands mostly open Midline hand play Crude palmar grasp Fascinated by own face in mirror

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are Personal/Social Milestones seen at 4 Months?

A

Recognizes bottle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are Speech and language Milestones seen at 4 Months?

A

Turns to voice and bell consistently

Laughs, squeals Responsive vocalization Blows bubbles, “raspberries”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are Cognitive Milestones seen at 4 Months?

A

Circular reaction, the interesting result of an action motivates its repetition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are Emotional Milestones seen at 4 Months?

A

Lap baby, developing a sense of basic trust

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are Gross Motor Milestones seen at 7 Months?

A
Maintains sitting 
May lean on arms 
Rolls to prone 
Bears all weight, bounces when held erect 
Cervical lordosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are Fine Motor Milestones seen at 7 Months?

A

Intermediate grasp Transfers cube from hand to hand

Bangs objects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are Personal/Social Milestones seen at 7 Months?

A

Differentiates between familiar person and stranger
Holds bottle
Looks for dropped object
Talks to mirror image

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are Speech and language Milestones seen at 7 Months?

A

Uses single-word and double-consonant vowel combinations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What are Emotional Milestones seen at 7 Months?

A

At 5 months begins to differentiate mother and self— individualization Sense of belonging to a central person

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are Gross Motor Milestones seen at 10 Months?

A

Creeps on all fours Pivots in sitting
Stands momentarily, cruises
Slight bow leg Increased lumbar lordosis, acute lumbosacral angulation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What are Fine Motor Milestones seen at 10 Months?

A

Pincer grasp, mature thumb to index grasp Bangs 2 cubes held in hands

30
Q

What are Personal/Social Milestones seen at 10 Months?

A

Plays peek-a-boo Finger feeds Chews with rotary movement

31
Q

What are Speech and language Milestones seen at 10 Months?

A

Shouts for attention Imitates speech sounds Waves bye-bye Uses “mama” and “dada” with meaning Inhibits behavior to “no”

32
Q

What are Cognitive Milestones seen at 10 Months?

A

Can retrieve an object hidden from view

33
Q

What are Emotional Milestones seen at 10 Months?

A

Practicing phase of separation— individuation, practices imitating separations

34
Q

What are Gross Motor Milestones seen at 14 Months?

A

Walks alone, arms in high guard or midguard Wide base, excessive knee and hip flexion Foot contact on entire side
Slight valgus of knees and feet
Pelvic tilt and rotation

35
Q

What are Fine Motor Milestones seen at 14 Months?

A

Piles 2 cubes
Scribbles spontaneously
Holds crayon full length in palm
Casts objects

36
Q

What are Personal/Social Milestones seen at 14 Months?

A

Uses spoon with overpronation and spilling

Removes a garment

37
Q

What are Speech and language Milestones seen at 14 Months?

A

Uses single words Understands simple commands

38
Q

What are Cognitive Milestones seen at 14 Months?

A

Differentiates available behavior patterns for new ends, e.g., pulls rug on which is a toy

39
Q

What are Emotional Milestones seen at 14 Months?

A

Rapprochement phase— individuation; ambivalence behavior to mother
Stage of autonomy vs. shame and doubt Pleasures in control of muscle and sphincter

40
Q

What are Gross Motor Milestones seen at 18 Months?

A

Arms at low guard Mature supporting base and heel strike

Seats self in chair Walks backward

41
Q

What are Fine Motor Milestones seen at 18 Months?

A

Emerging hand dominance
Crude release
Holds crayon butt end in palm
Dumps raisin from bottle spontaneously

42
Q

What are Personal/Social Milestones seen at 18 Months?

A

Imitates housework Carries, hugs doll Drinks from cup neatly

43
Q

What are Speech and language Milestones seen at 18 Months?

A

Points to named body part
Identifies 1 picture
Says “no” Jargons

44
Q

What are Cognitive Milestones seen at 18 Months?

A

Capable of insight; problem solving by mental combinations, not physical groping

45
Q

What are Gross Motor Milestones seen at 2 years?

A

Begins running
Walks up and down stairs alone
Jumps on both feet in place

46
Q

What are Fine Motor Milestones seen at 2 years?

A

Hand dominance is usual
Builds 8-cube tower
Aligns cubes horizontally Imitates vertical line
Places pencil shaft between thumb and fingers
Draws with arm and wrist action

47
Q

What are Personal/Social Milestones seen at 2 years?

A

Pulls on garment
Uses spoon well Opens door turning knob
Feeds doll with bottle or spoon
Toilet training usually begun

48
Q

What are Speech and language Milestones seen at 2 years?

A
Two-word phrases are common 
Uses verbs
Refers to self by name 
Uses me, mine 
Follows simple directions
49
Q

What are Cognitive Milestones seen at 2 years?

A

Preoperational period—2 to 7 years
Able to evoke an object or event not present
Object performance established
Comprehends symbols

50
Q

What are Gross Motor Milestones seen at 3 years?

A

Runs well
Pedals tricycle
Broad jumps
Walks up stairs alternating feet

51
Q

What are Fine Motor Milestones seen at 3 years?

A

Imitates 3-cube bridge
Copies circle
Uses overhand throw with anteroposterior arm and motion
Catches with extended arms hugging against body

52
Q

What are Personal/Social Milestones seen at 3 years?

A

Most children toilet trained day and night
Pours from pitcher
Unbutton; washes and dries hands and face
Parallel play
Can take turns
Can be reasoned with

53
Q

What are Speech and language Milestones seen at 3 years?

A
3-word sentences 
Uses future tense 
Asks who, what, where 
Follows prepositional commands 
Gives full name 
May stutter; eager 
Identifies sex of self 
Recognizes 3 colors
54
Q

What are Cognitive Milestones seen at 3 years?

A

Preoperational period continues

Capable of deferred limitation symbolic play, drawing of graphic images, mental images, verbal evocation of event

55
Q

What are Emotional Milestones seen at 3 years?

A

Stage of initiative vs. guilt 3 to 5 years

Deals with issue of genital sexuality

56
Q

What are Gross Motor Milestones seen at 4 years?

A

Walks down stairs alternating feet
Hops on 1 foot
Plantar arches developing
Sits up from supine position without rotating

57
Q

What are Fine Motor Milestones seen at 4 years?

A

Handles a pencil by finger and wrist action, like adults
Copies a cross
Draws a froglike person with head and extremities
Throws underhand
Cuts with scissors

58
Q

What are Personal/Social Milestones seen at 4 years?

A

Cooperative playsharing and interacting
Imaginative makebelieve play
Dresses and undresses w/supervision, distinguishing front and back of clothing and buttoning
Does simple errands outside of home

59
Q

What are Speech and language Milestones seen at 4 years?

A
Gives connected account of experience 
Asks why, when, how 
Uses past tense, adjectives, adverbs 
Knows opposite analogies 
Repeats 4 digit
60
Q

What are Gross Motor Milestones seen at 5 years?

A

Skips, tiptoes

Balances 10 seconds on each foot

61
Q

What are Fine Motor Milestones seen at 5 years?

A

Hand dominance expected
Draws man with head, body, extremities
Throws with diagonal arm and body rotation
Catches with hand

62
Q

What are Personal/Social Milestones seen at 5 years?

A
Creative play 
Competitive team play 
Uses fork for stabbing food 
Brushes teeth 
Self-sufficient in toileting 
Dresses without supervision except tying shoelaces
63
Q

What are Speech and language Milestones seen at 5 years?

A

Fluent speech
Misarticulation of some sounds may persist
Gives name, age, address
Defines concrete nouns— composition, classification, use
Follows 3-part commands
Number concept to 10

64
Q

What are Emotional Milestones seen at 5 years?

A

Stage of industry versus inferiority
5years to adolescence
Adjusts to the inorganic laws of the tool world

65
Q

What are Gross Motor Milestones seen at 6 years?

A

Rides bicycle

Roller skates

66
Q

What are Fine Motor Milestones seen at 6 years?

A

Prints alphabet; letter reversals still acceptable

Mature catch and throw of ball

67
Q

What are Personal/Social Milestones seen at 6 years?

A

Teacher is important authority
Uses fork appropriately
Uses knife for spreading
Plays table games

68
Q

What are Speech and language Milestones seen at 6 years?

A

Shows mastery of grammar

Uses proper articulation

69
Q

What are Emotional Milestones seen at 6 years?

A

Stage of industry versus inferiority continues

70
Q

What are Gross Motor Milestones seen at 7 years?

A

Continuing refinement of skills

71
Q

What are Personal/Social Milestones seen at 7 years?

A

Eats with fork and knife

Combs hair Is responsible for grooming

72
Q

What are Cognitive Milestones seen at 7 years?

A

Period of concrete operational thought 7 years to adolescence Capable of logical thinking