Downs Syndrome

Question 1

What is DS caused by?

Answer 1

An extra 21st chromosome as a result of a random mutation (Down, 1866)

Question 2

What is thought to be a contributing factor to DS?

Answer 2

Mothers Age; Wu and Morris (2013) found in 1945 (before prescrening and termination were options) the risk for a mother over 355 was 20%

Question 3

What are the specific facial dysmorphic features of DS?

Answer 3

flattened face
Almond shaped eyes
Short neck and
Small ears

Question 4

What is the medical phenotype of DS?

Answer 4

sucking and feeding problems
congenital heart defects
hearing and vision problems
respiratory problems

Question 5

what do DS individuals have in terms of muscle tone?

Answer 5

They have low muscle tone which can cause developmental issues.

Question 6

What are some of the Gene-Environment factors?

Answer 6

stress
Infections
drugs for treatment of DS
early intervention and treatment problems
mothering style
genetics
(Lott & Dierssen, 2010)

Question 7

What co-morbid factors can the cognitive profile be influenced by?

Answer 7

sensory impairments
sezures
sleep disruption
other medical conditions

Also cognitive function changes across the lifespan

(Grieco et al., 2015)

Question 8

what are the overall relative Cognitive strengths in DS?

Answer 8

non-verbal abilities and social motivation

Question 9

What are the overall relative cognitive weaknesses in DS?

Answer 9

language
Variable functioning across areas of EF

Question 10

What are some general critiques of DS research?

Answer 10

Deficits in cogenitive functions may be due to seizures, as they occur in children with DS and and can cause cognitive impairments.

Also, research tends to vairy in methodology and therefore tests are not consistent.

Also often very small groups are used.

Question 11

what did Lott and Dierssen’s (2010) study find?

Answer 11

They outlined a number of studies which found reduced volume in the frontal lobe, which is important for WM and EF and therefore it may provide and explanation for the deficits seen.

Question 12

Lanfranchi (2010) ?

Answer 12

Examined EF in DS.
15 DS and 15 TD matched for mental age
Presented with a battery of EF tasks (measuring planning, organising and inhibiting impulsive responses)
They found differences in lots of memusres but not all of them. (WM andstroop and shifting and planning but not retreaving from LTM)
it shows that there are some deficits in EF individuals with DS.

Question 13

What is a study using EF rating scale measures?

Answer 13

Loveall (2017) examined EF impairments using BRIEF.
there were impairments in EF across the lifespan and found to be changes in functioning across the lifespan.

Question 14

Explain the findings of Turngate and Cornners (2020)

Answer 14

Conducted a meta-anayisis of 57 stuies comparing DS to a mentally aged matched control group. They found a very large deficit for verbal WM and STM and shifting and moderate deficits for inhibition and non-verbal WM and STM.

Question 15

What are the overall memory impairments seen in DS?

Answer 15

individuals show impairments in LTM (which gets worse later in life)
impairments in verbal STM
impairments in verbal WM

Question 16

explain Lott and Dierssen (2010) study in terms of investigating memory in DS?

Answer 16

They found differences in the hippocampal system which is important for LTM and memory consolidation.
This is an important aspect for many other core skills such as language meaning deficits in lanugae areas could be due to memory deficits

Question 17

Explain Godfrey and Lee’s (2018) study on memory across the lifespan of DS

Answer 17

focused on STM, LTM and WM in both verbal and non verbal domains.
LTM impairments from school age in both domains
verbal STM from school age
mixed findings for non-verbal STM
Imperments for verbal WM but mixed for non-verbal and visual

Question 18

explain the early on set Alzhimers issues seen in DS?

Answer 18

after the age of 35 many individuals with DS develop neuropathic changes similar to those found in AAlzheimer’s.
e.g. memory loss, changes in behaviour and personality.
Longitudinal studies have shown that through middle adulthood cognitive decline in standardized test scores increase with age.
However this can happen even in the absence of clinical signs of dementia (Greco et al., 2015)

Question 19

Are verbal processing and motor functioning a strength or weakness?

Answer 19

Relative weakness

Question 20

Explain Chapman and Hesketh (2000) study on speech and language

Answer 20

Described a dissociation of verbal and non-verbal skill across different domains of ability.
They found visual skills to be relatively strong however speech language nad verbal processing are relative weaknesses.

Question 21

Explain Martin et al (2009) study on speech and language

Answer 21

Provided a review of language in DS.
Found risk factors include physical and mental symptoms and hearing difficultys along with other cognitive abilities and social skills affecting language development.
Phonological errors have been found, poor speech intelligibility.
Receptive vocabulary and comprehension is unaffected.
Expressive vocabulary and aqucistion is delayed and syntax and grammatical structure presents a challenge

Question 22

Overall processing of speech and language in DS?

Answer 22

DS individuals demonstrate a consistent pattern of weakness in the processing of verbal information relative to visual information (Abbeduto, 2001) and throughout the lifespan they continue to make nonverbal fains whereas growth of verbal abilities tends to decelerate throughout adolescence and into adulthood.

Question 23

What is the general behavioral profile of individuals with DS?

Answer 23

perceived as charming affectionate sociable and cheerful and show more positive facial expressions than TD individuals

Question 24

Outline Cebula et al (2010) study on the behavioral profile of DS

Answer 24

Examine social conition in DS and found there to be subtle early differences in early attention, fewer spontaneous gestures and difficulty in social referencing and measuring emotions
They found high rates of externalising behaviour and are prone to social distraction.

Question 25

outline Dykens et al (2002) study on the behavioral profile of DS

Answer 25

Mesured age related changes in maladaptive behaviors of 211 children and adolescence with DS. they found internalising behaviors were seen more in adolescence with increases in withdrawal. Older adolescence show decreased externalising symptoms (could link to high anxiety rates?)

Question 26

Provide an overvew of the interventions needed?

Answer 26

Interventions need to account for all the deficits so a multi-discaplinary team is needed.
Because DS is diagnosed early diagnosis can be made early
these include:
- Language therapy
- Emotion / behavioral therapy
- Drug treatments / support services

Question 27

Explain the results of Neil and Jones (2017) review of communication interventions

Answer 27

they concluded that favorable effects come from behaviour analytic approaches (behaviorism = reward / punishment and learning). And a vital part is the intensity of the interventions (how frequent are they?)

Question 28

Explain Hardee and Fethers (2017) research on interventions

Answer 28

Conducted a review of exercise interventions focusing on pyschal benefits.
They found benefits for endurance and strength but also in daily life activities and well being (showing a broad range of benefits)

Question 29

What have Lott and Dierssen (2010) said about genetic research

Answer 29

Genetic research and further understanding of the circuitry differences in the brain with those with DS may lead to new therapeutic interventions with improved outcomes for individuals with DS