Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Human Development 2 PBL > PBL 6 > Flashcards

PBL 6 Flashcards

1
Q

What type of mutation does the patient have

A

translocation trisomy

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

how many people is a translocation trisomy found in

A

• Found in only 5% of Down syndrome infants

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

what is the other mutation that is found in Down syndrome

A

the other 95% being trisomy 21 which can occur through non-disjunction (92-95%: age related), translocation, mosaicism).

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

how can trisomy 21 occur

A
  • translocation
  • non disjunction
  • mosaicism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How do you screen for down syndrome

A
  • Combined test: includes nuchal translucency (increased) ultrasound and a blood test for PAPP-A (low) and free beta-HCG (high) at 10-14 weeks.
  • Quadruple tests: if you have missed the timeline.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

when are chrorionic villus sampling and amniocentesis offered

A

CVS and amniocentesis are offered if other tests are more than 1/150.

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

what week is chorionic villus sampling and amniocentesis offered

A
  • Chorionic villus sampling: available at 11 week.

* Amniocentesis: from the 15th week.

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

what is the risk of miscarraige for chorionic villus sampling and amniocentesis

A

1%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

describe the inheritance of the patient

A

The mother: has 45 chromosomes but has a balanced (Robertsonian) translocation.
• Has one normal 14 and one normal 21.
• Has a 14/21 translocation has taken place forming one chromosome.

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

what has lead to the translocation in meiosis

A

• (1/3) Mother passes on the normal 14 and normal 21 (healthy child) + 14 and 21 from father.
• (1/3) Passes on the 14/21 translocation on its own (healthy child) + 14 and 21 from father.
• (1/3) OR (!) pass on the 14/21 translocation and standalone chromosome 21 (21)
o Chromosome 21 is very small and therefore not noticed.

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

what is the chance for the mother and father to pass on Down syndrome

A

the risk of DS is much smaller (in real life vs theoretical) than 1/3 because many of the trisomy 21 foetuses are spontaneously aborted. The actual risk of having a child with DS:
• Mother: 10-15%.
• Father: 3-5%.

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

what is the risk of recurrence

A
  • If mother is translocation carrier: recurrence is 10%.

* If father is carrier: 1-5%.

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

recurrence is higher in…

A

mothers than fathers

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

what are the signs and symptoms of down syndrome

A 
•	Brushfield spots
•	Single palmar crease
•	Wide gap between 1st and 2nd toe. 
•	Protuberant tongue. 
-      flat nasa bridge 
-      short broad hands
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

how many babies born with down syndrome have a congenital condition

A

60%

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

what is the most common congenital condition in down syndrome

A

cardiac defects

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

what are the types of congenital conditions that can be experienced

A
  • cardiac defects
  • GI defects
  • hypotonic muscle tone
  • acute leukaemia
  • Atlanta-occipital instability
  • more prone to autoimmune disorders
  • susceptible to infection
  • visual problems
  • faltering growth
  • hearing tests
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what type of cardiac defects tend to occur

A 
ventricular septal defect, atrial septal defect
atrioventricular septal defect
tetralogy of Fallot
hypoplastic left heart
transposition of the great arteries
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what is usually performed routinely in Down syndrome

A

• Therefore, an echocardiogram is routinely performed.

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

what is the most common cardiac defect in Down syndrome children

A

• Most common (30-40%) is A-V canal defect (difficult to detect on clinical examination).
o Risk of pulmonary hypertension developing (therefore surgery performed early).

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

what is the most common GI defect to occur

A

• Most common is bowel atresia (majority duodenal atresia).

o Atresia: absence/narrowing of opening.

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

what other GI defects can occur

A

o Oesophageal atresia.

o Hirschsprungs disease.
 Certain nerve cells are missing  constipation.

23
Q

what is an atresia

A

absence/narrowing of opening.

24
Q

what is acute leukaemia

A

usually myeloblastic and responds to treatment (increased risk of haematological cancer).

25
Q

what is Atlanta-occiptial instability

A

excessive movement of junction between the atlas (C1) and the axis (C2).
• No treatment unless pain/neurological symptoms develop.

26
Q

why are down syndromes children more prone to infection

A

• Minor defects in the immune system
o Commonest being IgG2 deficiency.

NOTE: combination of hypotonia and infection risk: increased chest infections/influenza.
• The seasonal flu vaccine is strongly recommended.

27
Q

why is the seasonal flu vaccine recommended for people with Down syndrome

A

NOTE: combination of hypotonia and infection risk: increased chest infections/influenza.
• The seasonal flu vaccine is strongly recommended.

28
Q

what do visual problems tend to include

A

• More common and tested on regular basis. Includes

o Neonatal cataracts (X10 risk), nystagmus and refractive errors.

29
Q

describe what growth problems children with Down syndrome are more likely to have

A

• Children with DS are shorter and prone to obesity.

30
Q

what is otitis media

A

Otitis media is the inflammation of the middle ear.

31
Q

what does obstruction of the Eustachian tube do

A

• Obstruction of the Eustachian tube stops air from being able to move into the middle ear. Air is slowly absorbed through mucosa = negative pressure.
o Pulls plasma/fluid from the mucosa into the middle ear.

Due to persistence of sticky mucous in the middle ear leading to a conductive deafness.

32
Q

How do you manage glue ear

A
  • In time, it resolves spontaneously.
  • Few treatment options are effective.

For most children “watchful waiting”.

33
Q

what do you do if the hearing loss with glue persistent

A

Grommets: if hearing loss is persistent/associated with other problems.
• These are drainage by means of small tubes inserted into the eardrum.

  • can also have possible temporary hearing aids
34
Q

what are the members of the DMT team that will be involved int he patients care

A

Members: paediatrician, physiotherapist, occupational therapist, speech and language therapist, child psychiatrist/psychotherapist, social worker, audiologist, orthoptist/ophthalmologist and dietician.

35
Q

where are the people who will be involved in the patients care

A

Group of professionals who work together to co-ordinate care for children with disabilities.
• Usually based in CDC (centres for disease control + prevention).

36
Q

what would the people who are involved in the patients care do

A
  • provide information to the parents - details of down syndrome and services available
  • developmental assessment
  • non-medical therapy
  • medical assessment and treatment
  • liaison with low education authority
  • advice on accessing social support
37
Q

how do you assess developmental assessment

A
  • Gross Motor
  • Fine Motor
  • Language
  • Personal Social

Will include hearing and vision assessment.

38
Q

what does non medical therapy include

A

child with DS might benefit from physiotherapy and occupational theraphy, require speech and language theraphy.
• Possible teaching of Makaton (sign language).
• May also be offered a Portage.

o Carried out at home by a trained working.
 Involves advising on play while looking at the next developmental milestone.

39
Q

what does the medical assessment and treatment involve in DS

A

identification and management of physical problems, developmental assessments, co-ordination of care and encouraging communication between relevant specialists.

40
Q

what can the MDT do with the local education authority for people suffering with DS

A

: MDT can give “statement of special educational needs”.

• Recommends appropriate educational placement (still focuses on inclusion).

41
Q

what advice of accessing social support is the family eligible for

A
  1. Advice on accessing social support: family may be eligible for disability living allowance.
42
Q

discuss the difficulties for the parents of a child with down syndrome

A
  • Grief reaction related to the loss of the normal child they were expecting.
  • Reactions are very varied and in some cultures.
  • Families have numerous appointments to attend and have financial difficulties from stopping to work to care for their child.
43
Q

what support groups are avaliable to help

A

Many districts will have parent groups for children with Down syndrome or with disability more widely. Many parents find the Down’s syndrome Association (DSA) a very useful resource

44
Q

what is used to diagnose down syndrome

A

NOTE: chorionic villi sampling is used to diagnose Down syndrome.

45
Q

what is portage

A

Portage is a home-visiting educational service for pre-school children with additional support needs and their families.

46
Q

what substance is used to detect congenital hypothyroidism

A

Thyroid stimulating hormone (2 marks), TSH (1 mark

47
Q

newborn boy with Down syndrome is vomiting all his feeds. What is the most likely cause for this?

A

duondeal atresia

48
Q
  1. A 27 year old woman who is 12 weeks pregnant attends the antenatal clinic for the results of her nuchal translucency scan and serum screening tests. The results reveal she has an increased nuchal translucency and decreased pregnancy-associated plasma protein A (PAPP-A) levels. What is the single most appropriate intervention at this point and why?
A

(3 marks)
Chorionic villus sampling (1 mark)
Her results indicate a risk of her baby having Down syndrome (1 mark)
CVS would give a definitive diagnosis via karyotyping (1 mark)

49
Q

what happens at 2 months

  • social development
  • language development
  • cognitive development
  • physical development
A

social development

  • starts to smile
  • show signs of calming self
  • tries to look at parent

language development

  • makes cooing or gurgling noises
  • turns head around

cognitive development

  • pays attention to faces
  • recognised people from a distance
  • follows things with eyes
  • crystal and gets fussy if bored

physical development

  • more refined movement with arms and legs
  • able to hold head up and may start to push up when on tummy
50
Q

what happens at 4 months

  • social development
  • language development
  • cognitive development
  • physical development
A

social development

  • smiles occasionally
  • likes to play with people and may cry if play stops
  • mimic some facial expression

language development

  • babbling
  • babies with expression and mimics sound
  • cries are different depending on needs

cognitive development

  • expressed happy or sad emotions
  • responds to affect
  • reaches things with one had
  • hand eye coordination develops

physical development

  • head is steadily held up without support
  • pushes legs down when feet are on a surface
  • roll over tummy to back
51
Q

what happens at 6 months

  • social development
  • language development
  • cognitive development
  • physical development
A

social development

  • starts to recognise familiar faces and knows if someone is a stranger
  • looks at self in mirror
  • responds to other peoples emotions

language development

  • starts to respond to sounds by making own sounds
  • responds to name, likes taking turns with parents making sounds
  • makes sounds to show happiness or discomfort

cognitive development

  • looks around at nearby things
  • tries to get things that are out of reach due to curiosity
  • passes things back and forth between hands

physical development

  • rolls over in both directions
  • may be able to sit without support
  • rocks back and forth, might crawl backwards before moving forwards
52
Q

what happens at 9 months

  • social development
  • language development
  • cognitive development
  • physical development
A

social development

  • fearful of strangers
  • clingy with familiar adults
  • have a favourite toy

language development

  • understands no
  • sounds may resemble words
  • copies sounds and movements of others, points at things

cognitive development

  • plays peek a boo
  • picks up tiny things like cereal between thumb and index finger
  • looks for things that a re hidden

physical development

  • stands with support
  • crawls and able to get into sitting position
  • pulls to stand
53
Q

what happens at 12 months

  • social development
  • language development
  • cognitive development
  • physical development
A

social development

  • nervous around strangers
  • cries when parents leave
  • hands you book for reading and puts out arm or leg to help with dressing

language development

  • responds to simple requirements
  • uses simple premature gestures like waving or shaking head
  • changes tone when making sounds and says a few basic words and exclamations
  • tried to repeat spoken words

cognitive development

  • shakes, bangs or throws things out or curiosity
  • finds hidden items easily
  • able to point out the correct object when you name it
  • stands to use things correctly such as brush hair

physical development

  • uses furniture to cruise
  • may take a few steps without holding on
  • may be able to stand without assistance

Human Development 2 PBL (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions