Down Syndrome Flashcards
Physical phenotype of Down Syndrome
Dysmorphic facial features
Low muscle tone
Loose joints
Medical phenotype of Down Syndrome
Sucking and feeding problems
Heart defects
Hearing and vision defects
Respiratory problems
Behaviour of Down Syndrome
Cheerful and affectionate
Showing more positive facial expressions
Lower pathology and prone to distraction
Down Syndrome children tend to have behaviour difficulties that change across development
Dykens et al (2002)
Who found out that Down Syndrome was caused by genetic trisomy in 3rd chromosome 21
Patterson (1987)
Down Syndrome is not inherited, rather a random mutation
Coppede (2016)
Some Down Syndrome could be inherited, with evidence for mother’s side
Arbuzova (2001)
Impairments in Down Syndrome could be due to impairments in hippocampal function
Nadel (2003)
Frontal lobe degeneration of Down Syndrome could cause Alzheimers
Fonseca et al (2016)
Down Syndrome people have more grey and white brain matter and smaller brain volume, specifically around hippocampus and cerebral cortex
Hamner et al (2018)
Down Syndrome
Reduced volume - frontal lobe and temporal lobe
Normal - basal ganglia and parietal lobe
Stops growing - Cerebellum
Altered - Hippocampal system
Lott and Dierssen (2010)
Gestures in speech were responded to by Down Syndrome teens
Attwood et al (1988)
Speech is more unintelligible in children with Down Syndrome than control children due to differences in the vocal tract
Abbeduto and Murphy (2004)
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
Martin et al (2009)
Down syndrome people tended to judge facial expressions as more positive than controls, struggled with identifying neutral expressions
Hippolyte et al (2008)
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
Cebula et al (2010)
Down Syndrome people strong in verbal skills and social functioning but weak in speech language, verbal processing and motor functioning
Chapman and Hesketh (2000)
How many Down Syndrome people are effected by dementia?
Around 30%
Dementia in Down Syndrome could be due to over expression of APP protein, located on chromosome 21
Lott and Head (2019)
Attention difficulties in autism and Down Syndrome are similar
Lincoln et al (2002)
Down syndrome children that play with their dads showed more cognitive functioning than those that received less play.
De Falco et al (2008)
Play therapy helped Down syndrome children have improvements in play behaviour
Gokhale et al (2014)
Interventions that alter behaviour of people with Down Syndrome work best, especially with high frequency
Neil and Jones (2018)
Created an intervention to help Down Syndrome children with phonemes
Van Bysterveldt et al (2006)
Signing found to be very effective in promoting language and communication in children and adults with Down Syndrome
Clibbens (2001)
Parents of children with Down Syndrome viewed Makaton as positive, limitations mainly caused by misinformation about Makaton’s purpose
Brennan (2013)
Out of 6 Makaton studies. All 6 found increase in positive behaviour, 5 showed Makaton increased communication and 4 found it initiated spoken language
Larkin (2021)
Physical therapy helped people with Down Syndrome with balance, endurance, daily life activities and wellbeing
Hardee and Fetters (2017)
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
Inglis et al (2014)
Children with Down Syndrome showed differences in inhibition compared to neurotypical
Traverso et al (2018)
Children with Down Syndrome had greater weakness in dual task executive function
Kittler et al (2008)
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
Tungate and Conners (2021)
Impairments of Down Syndrome are across lifespan, but exact problems change
Loveall (2017)
Children with Down Syndrome performed worse in selective attention task than neurotypical samples
Cornish et al (2007)
Less sustained attention in those with Down Syndrome and performed lower in set shifting, planning, problem solving, working memory and inhibition
Lanfranchi et al (2010)
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
Godfrey and Lee (2018)
