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
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
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
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
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
6
Q
What prenatal diagnostic tests are included at 14-16 weeks pregnancy?
A
Amniocentesis
7
Q
What prenatal diagnostic tests are included at 9-10 weeks pregnancy?
A
Chorionic villi sampling
8
Q
What are the TORCHES infections?
A
Toxoplasmosis Other agents such as varicella virus or parvovirus Rubella virus, Cytomegalovirus Herpes virus/HIV Syphilis
9
Q
When do the biggest changes in bone mass occur?
A
Girls: 12 to 15 yo
Boys: 14 to 17 yo
10
Q
What are the earliest markers of abnormal neurological maturation?
A
Obligatory or persistent primitive reflexes
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
12
Q
What are Fine Motor Milestones seen in Newborns?
A
Hands fisted
Grasp reflex
State-dependent ability to fix and follow bright object
13
Q
What are Personal/Social Milestones seen in Newborns?
A
Habituation and some control of state
14
Q
What are Speech and language Milestones seen in Newborns?
A
Cry
State-dependent quieting and head turning to rattle or voice
15
Q
What are Cognitive Milestones seen in Newborns?
A
Sensorimotor 0 to 24months
Reflex stage
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
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
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
19
Q
What are Personal/Social Milestones seen at 4 Months?
A
Recognizes bottle
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”
21
Q
What are Cognitive Milestones seen at 4 Months?
A
Circular reaction, the interesting result of an action motivates its repetition
22
Q
What are Emotional Milestones seen at 4 Months?
A
Lap baby, developing a sense of basic trust
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
24
Q
What are Fine Motor Milestones seen at 7 Months?
A
Intermediate grasp Transfers cube from hand to hand
Bangs objects
25
What are Personal/Social Milestones seen at 7 Months?
Differentiates between familiar person and stranger
Holds bottle
Looks for dropped object
Talks to mirror image
26
What are Speech and language Milestones seen at 7 Months?
Uses single-word and double-consonant vowel combinations
27
What are Emotional Milestones seen at 7 Months?
At 5 months begins to differentiate mother and self— individualization Sense of belonging to a central person
28
What are Gross Motor Milestones seen at 10 Months?
Creeps on all fours Pivots in sitting
Stands momentarily, cruises
Slight bow leg Increased lumbar lordosis, acute lumbosacral angulation
29
What are Fine Motor Milestones seen at 10 Months?
Pincer grasp, mature thumb to index grasp Bangs 2 cubes held in hands
30
What are Personal/Social Milestones seen at 10 Months?
Plays peek-a-boo Finger feeds Chews with rotary movement
31
What are Speech and language Milestones seen at 10 Months?
Shouts for attention Imitates speech sounds Waves bye-bye Uses “mama” and “dada” with meaning Inhibits behavior to “no"
32
What are Cognitive Milestones seen at 10 Months?
Can retrieve an object hidden from view
33
What are Emotional Milestones seen at 10 Months?
Practicing phase of separation— individuation, practices imitating separations
34
What are Gross Motor Milestones seen at 14 Months?
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
What are Fine Motor Milestones seen at 14 Months?
Piles 2 cubes
Scribbles spontaneously
Holds crayon full length in palm
Casts objects
36
What are Personal/Social Milestones seen at 14 Months?
Uses spoon with overpronation and spilling
| Removes a garment
37
What are Speech and language Milestones seen at 14 Months?
Uses single words Understands simple commands
38
What are Cognitive Milestones seen at 14 Months?
Differentiates available behavior patterns for new ends, e.g., pulls rug on which is a toy
39
What are Emotional Milestones seen at 14 Months?
Rapprochement phase— individuation; ambivalence behavior to mother
Stage of autonomy vs. shame and doubt Pleasures in control of muscle and sphincter
40
What are Gross Motor Milestones seen at 18 Months?
Arms at low guard Mature supporting base and heel strike
| Seats self in chair Walks backward
41
What are Fine Motor Milestones seen at 18 Months?
Emerging hand dominance
Crude release
Holds crayon butt end in palm
Dumps raisin from bottle spontaneously
42
What are Personal/Social Milestones seen at 18 Months?
Imitates housework Carries, hugs doll Drinks from cup neatly
43
What are Speech and language Milestones seen at 18 Months?
Points to named body part
Identifies 1 picture
Says “no” Jargons
44
What are Cognitive Milestones seen at 18 Months?
Capable of insight; problem solving by mental combinations, not physical groping
45
What are Gross Motor Milestones seen at 2 years?
Begins running
Walks up and down stairs alone
Jumps on both feet in place
46
What are Fine Motor Milestones seen at 2 years?
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
What are Personal/Social Milestones seen at 2 years?
Pulls on garment
Uses spoon well Opens door turning knob
Feeds doll with bottle or spoon
Toilet training usually begun
48
What are Speech and language Milestones seen at 2 years?
```
Two-word phrases are common
Uses verbs
Refers to self by name
Uses me, mine
Follows simple directions
```
49
What are Cognitive Milestones seen at 2 years?
Preoperational period—2 to 7 years
Able to evoke an object or event not present
Object performance established
Comprehends symbols
50
What are Gross Motor Milestones seen at 3 years?
Runs well
Pedals tricycle
Broad jumps
Walks up stairs alternating feet
51
What are Fine Motor Milestones seen at 3 years?
Imitates 3-cube bridge
Copies circle
Uses overhand throw with anteroposterior arm and motion
Catches with extended arms hugging against body
52
What are Personal/Social Milestones seen at 3 years?
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
What are Speech and language Milestones seen at 3 years?
```
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
What are Cognitive Milestones seen at 3 years?
Preoperational period continues
| Capable of deferred limitation symbolic play, drawing of graphic images, mental images, verbal evocation of event
55
What are Emotional Milestones seen at 3 years?
Stage of initiative vs. guilt 3 to 5 years
| Deals with issue of genital sexuality
56
What are Gross Motor Milestones seen at 4 years?
Walks down stairs alternating feet
Hops on 1 foot
Plantar arches developing
Sits up from supine position without rotating
57
What are Fine Motor Milestones seen at 4 years?
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
What are Personal/Social Milestones seen at 4 years?
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
What are Speech and language Milestones seen at 4 years?
```
Gives connected account of experience
Asks why, when, how
Uses past tense, adjectives, adverbs
Knows opposite analogies
Repeats 4 digit
```
60
What are Gross Motor Milestones seen at 5 years?
Skips, tiptoes
| Balances 10 seconds on each foot
61
What are Fine Motor Milestones seen at 5 years?
Hand dominance expected
Draws man with head, body, extremities
Throws with diagonal arm and body rotation
Catches with hand
62
What are Personal/Social Milestones seen at 5 years?
```
Creative play
Competitive team play
Uses fork for stabbing food
Brushes teeth
Self-sufficient in toileting
Dresses without supervision except tying shoelaces
```
63
What are Speech and language Milestones seen at 5 years?
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
What are Emotional Milestones seen at 5 years?
Stage of industry versus inferiority
5 years to adolescence
Adjusts to the inorganic laws of the tool world
65
What are Gross Motor Milestones seen at 6 years?
Rides bicycle
| Roller skates
66
What are Fine Motor Milestones seen at 6 years?
Prints alphabet; letter reversals still acceptable
| Mature catch and throw of ball
67
What are Personal/Social Milestones seen at 6 years?
Teacher is important authority
Uses fork appropriately
Uses knife for spreading
Plays table games
68
What are Speech and language Milestones seen at 6 years?
Shows mastery of grammar
| Uses proper articulation
69
What are Emotional Milestones seen at 6 years?
Stage of industry versus inferiority continues
70
What are Gross Motor Milestones seen at 7 years?
Continuing refinement of skills
71
What are Personal/Social Milestones seen at 7 years?
Eats with fork and knife
| Combs hair Is responsible for grooming
72
What are Cognitive Milestones seen at 7 years?
Period of concrete operational thought 7 years to adolescence Capable of logical thinking
