PBL6 - Developmental Delay And Diability

Question 1

Physical developments at 2 years:(3)

Answer 1

Climbs onto chair
Kicks and throws a ball
Feeds themselves

Question 2

Physical developments at 3 years: (3)

Answer 2

Holds crayons with finger
Gets dressed with help
Jumps over low objects

Question 3

Social Developments at 1 year: (2)

Answer 3

Wary of strangers

Explores when parent is near

Question 4

Social developments 2 years: (2)

Answer 4

Begins to share and cooperate when playing

Seeks comfort when upset

Question 5

Social developments when 3 years: (2)

Answer 5

Plays simple make believe games

Doesn’t like sharing toys

Question 6

Cognitive developments at 1 year: (3)

Answer 6

Bangs two objects together
Responds to own name
Shows interest in picture books

Question 7

Cognitive developments at 2 years: (3)

Answer 7

Recognises self in mirror
Point to objects when names
Selects games and puts them away

Question 8

Cognitive developments at 3 years: (3)

Answer 8

Begins to count with numbers
Recognises similarities and differences
Can follow two or more simple directions

Question 9

Language development at 1 year: (3)

Answer 9

Says words like mama, dada
Waves goodbye
Imitates hand clapping

Question 10

Language development for 2 year olds: (3)

Answer 10

Follows simple commands
Says first name
Begins to use two word sentences

Question 11

Language development for 3 year olds: (3)

Answer 11

Asks lots of questions
Copies words and actions
Sings songs

Question 12

Down syndrome types &% (2)

Answer 12

Translocation trisomy - 5% (boy in scenario has)

Non-disjunction trisomy - 95%

Question 13

Mother is translocation carrier, the recurrence risk is…

Father is translocation carrier, the recurrence risk is…

Answer 13

Mother 10%

Father 1-5%

Question 14

Mother = balanced translocation (3)

Answer 14

One normal 14
One normal 21
One 14/21 taking the place of 2 separate 14 and 21 chromosomes
(Therefore only 45 chromosomes)

Question 15

Meiosis options from mother: (gamete) (3)

Answer 15

21 and 14
14/21 translocation alone
14/21 + 21

Question 16

Chromosome 21 is very

Answer 16

Small

Question 17

Foetus options: (4)

Answer 17

2 X 21 and 14 (normal)
21, 14 and 14/21 (translocation)
2 X 21, 14/21 (trisomy 21)

Monosomy 21 - non-viable

Question 18

Risk of Down syndrome if father is the carrier?

Risk of Down syndrome if mother is the carrier?

Answer 18

Father - 3-5%

Mother - 10-15%

Question 19

% children born with congenital heart failure with downs?

Answer 19

60%

Question 20

Congenital association with downs: (17) APBDO HHHAAIII CEVOO

Answer 20

AV canal defect,
Pulmonary hypertension
Bowel atresia
Duodenal atresia
Oesophageal atresia
Hirschsprung's disease 
Hypotonia 
Hypothyroidism
Acute leukaemia - myeloblastic 
Atlanto-occipital instability 
Increased incidence of infections 
Increased mortality
IgG2 deficiency 
Chest infections 
Early onset Alzhiemers 
Visual problems - cataracts, nystagmus, refractive errors 
Otitis media 
Obesity prone

Question 21

Mortality are of downs in 1st year of life:

Answer 21

1%

Question 22

Downs have an increased risk of developing Alzhiemers by:

Answer 22

50-60years old

50% develop Alzheimer’s

Question 23

Otitis media =

Answer 23

Sticky Mucous in the middle ear - leads to conductive deafness

Question 24

Management of glue ear: (2)

Answer 24

Watchful waiting

Drainage using grommets

Question 25

Multi disciplinary team provide information to: (6)

Answer 25

Provide information to parents 
Developmental assessed 
Non medical therapies (e.g. Physiotherapist, occupational therapist)
Medical assessment and treatment 
Liaison with local education authority 
Advise on assessing social support

Question 26

Sign language =

Answer 26

Makaton

Question 27

Down’s syndrome association -

Answer 27

Parent group for children with downs or other disabilities

Question 28

Physical developments at 1 year: (3)

Answer 28

Sits without support
Hold biscuit
Crawls