Down Syndrome

Question 1

Physical phenotype of Down Syndrome

Answer 1

Dysmorphic facial features
Low muscle tone
Loose joints

Question 2

Medical phenotype of Down Syndrome

Answer 2

Sucking and feeding problems
Heart defects
Hearing and vision defects
Respiratory problems

Question 3

Behaviour of Down Syndrome

Answer 3

Cheerful and affectionate
Showing more positive facial expressions
Lower pathology and prone to distraction

Question 4

Down Syndrome children tend to have behaviour difficulties that change across development

Answer 4

Dykens et al (2002)

Question 5

Who found out that Down Syndrome was caused by genetic trisomy in 3rd chromosome 21

Answer 5

Patterson (1987)

Question 6

Down Syndrome is not inherited, rather a random mutation

Answer 6

Coppede (2016)

Question 7

Some Down Syndrome could be inherited, with evidence for mother’s side

Answer 7

Arbuzova (2001)

Question 8

Impairments in Down Syndrome could be due to impairments in hippocampal function

Answer 8

Nadel (2003)

Question 9

Frontal lobe degeneration of Down Syndrome could cause Alzheimers

Answer 9

Fonseca et al (2016)

Question 10

Down Syndrome people have more grey and white brain matter and smaller brain volume, specifically around hippocampus and cerebral cortex

Answer 10

Hamner et al (2018)

Question 11

Down Syndrome
Reduced volume - frontal lobe and temporal lobe
Normal - basal ganglia and parietal lobe
Stops growing - Cerebellum
Altered - Hippocampal system

Answer 11

Lott and Dierssen (2010)

Question 12

Gestures in speech were responded to by Down Syndrome teens

Answer 12

Attwood et al (1988)

Question 13

Speech is more unintelligible in children with Down Syndrome than control children due to differences in the vocal tract

Answer 13

Abbeduto and Murphy (2004)

Question 14

Down syndrome speech:
Phonological errors in speech production
Poor speech intelligibility
Receptive vocabulary unaffected
Expressive vocabulary acquisition is delayed
Grammar is a struggle
Some differences in pragmatics

Answer 14

Martin et al (2009)

Question 15

Down syndrome people tended to judge facial expressions as more positive than controls, struggled with identifying neutral expressions

Answer 15

Hippolyte et al (2008)

Question 16

Down Syndrome social cognition:
Slow to develop mutual gaze
Subtle differences in early attention
Fewer spontaneous gestures
Difficulties in social referencing
Difficulties in referencing others’ facial expressions

Answer 16

Cebula et al (2010)

Question 17

Down Syndrome people strong in verbal skills and social functioning but weak in speech language, verbal processing and motor functioning

Answer 17

Chapman and Hesketh (2000)

Question 18

How many Down Syndrome people are effected by dementia?

Answer 18

Around 30%

Question 19

Dementia in Down Syndrome could be due to over expression of APP protein, located on chromosome 21

Answer 19

Lott and Head (2019)

Question 20

Attention difficulties in autism and Down Syndrome are similar

Answer 20

Lincoln et al (2002)

Question 21

Down syndrome children that play with their dads showed more cognitive functioning than those that received less play.

Answer 21

De Falco et al (2008)

Question 22

Play therapy helped Down syndrome children have improvements in play behaviour

Answer 22

Gokhale et al (2014)

Question 23

Interventions that alter behaviour of people with Down Syndrome work best, especially with high frequency

Answer 23

Neil and Jones (2018)

Question 24

Created an intervention to help Down Syndrome children with phonemes

Answer 24

Van Bysterveldt et al (2006)

Question 25

Signing found to be very effective in promoting language and communication in children and adults with Down Syndrome

Answer 25

Clibbens (2001)

Question 26

Parents of children with Down Syndrome viewed Makaton as positive, limitations mainly caused by misinformation about Makaton’s purpose

Answer 26

Brennan (2013)

Question 27

Out of 6 Makaton studies. All 6 found increase in positive behaviour, 5 showed Makaton increased communication and 4 found it initiated spoken language

Answer 27

Larkin (2021)

Question 28

Physical therapy helped people with Down Syndrome with balance, endurance, daily life activities and wellbeing

Answer 28

Hardee and Fetters (2017)

Question 29

Asked parents of those with Down Syndrome, 61% said they’d like to improve their child’s intellectual disability but only 41% wanted a cure

Answer 29

Inglis et al (2014)

Question 30

Children with Down Syndrome showed differences in inhibition compared to neurotypical

Answer 30

Traverso et al (2018)

Question 31

Children with Down Syndrome had greater weakness in dual task executive function

Answer 31

Kittler et al (2008)

Question 32

Down Syndrome Executive Function:
Large differences - Verbal working memory, short term memory and shifting
Moderate differences - Inhibition, non-verbal short term memory and working memory

Answer 32

Tungate and Conners (2021)

Question 33

Impairments of Down Syndrome are across lifespan, but exact problems change

Answer 33

Loveall (2017)

Question 34

Children with Down Syndrome performed worse in selective attention task than neurotypical samples

Answer 34

Cornish et al (2007)

Question 35

Less sustained attention in those with Down Syndrome and performed lower in set shifting, planning, problem solving, working memory and inhibition

Answer 35

Lanfranchi et al (2010)

Question 36

Down Syndrome memory:
Deficits in LTM from school age onwards, getting greater with age
Deficits in verbal and non-verbal WM from adolescence and beyond
Deficits in STM for verbal, mixed for non-verbal

Answer 36

Godfrey and Lee (2018)