Gentic disorders

Genotype DS

3rd chromosome 21 present from moment of conception

Types of DS

Standard trisomy 21

Translocation

Mosaicism

Physical phenotype DS

Facial features

Low muscle tone

Loose joints

Medical phenotype DS

Hearing

Vision

Heart

Respiratory deficits

Cognitive profile DS

Mild-moderate intellectual disabilities

IQ = 35-69

Chapman (2000) (DS)

Strong visuo-spatial, social functioning skills

Relative speech, language, verbal, motor functioning skills

Martin (2009) (DS)

Phonological errors, poor speech, poor syntax

Unaffected comprehension

Godfrey and Lee (2018) (DS)

Impairments in LTM and verbal STM

Lanfranchi (2012) (DS)

Broadly impaired EFs in WM, planning, inhibition, conceptual flexibility

Csumitta (2022) (DS)

EF deficits visible in every day life

Behavioural profile DS

Charming, social

Low risk of pathology but high rates of externalising behaviours

Zigman (2007) (DS)

Premature ageing

After 35, develop neuropathic changes similar to Alzheimer’s.

May be memory loss, changes to behaviour.

Around 30% affected by dementia

Dulin (2024) (DS)

Richness of home learning and shared reading predicts vocab

Costanzo (2024) (DS)

Children use app to recognise unclear speech and translate it into clear words

Some improvement in language abilities

Genotype WS

25 genes missing from chromosome 7

1 in 18,000 have WS

Face WS

Wide smile and open mouth

Flattened mid face

Oral problems

Medical phenotype WS

Infant colic

Feeding difficulties

Cardiovascular

Cognitive profile WS

IQ = 40-90

Mild-moderate learning difficulty

Wang and Bellini (1993) (WS)

Bias for local detail rather than global detail

Menghini (2020) (WS)

Broad EF impairments in: planning, WM, inhibition, cognitive control

Social phenotype WS

Hyper sociability and lack of stranger danger

Not understanding personal space

Causes social isolation and vulnerability

Lough (2016) (WS)

Prenatal insights

“Hug people, hold hands”

“Shout hello to strangers”

Riby (2014) (WS)

Watched video of stranger danger and asked questions.

WS gave less appropriate answers, lack of awareness about danger

Dominguez-Garcio (2023) (WS)

Cognitive training led to significant improvement in attention, memory, visuospatial abilities

Butti (2024) (WS)

Deficits in social cognition due to spatial and facial memory

Interventions should target this

Mervis and John (2010) (WS)

Highly uneven cognitive and social profile.

Strengths in sociability and vocab

Deficits in visuospatial, pragmatics and EF

Lott and Dierssen (2010) (DS)

Uneven cognitive profile because of brain differences which are further shaped by development and health

Strengths in visuospatial

Weakness in verbal

Porter (2003) (WS)

Large individual differences

Visuospatial (WS)

Strongest, consistent deficit

Spatial processing, drawing, navigation

Karmiloff-smith (1995) (WS)

Local detail when drawing, supporting impaired global

But may emerge developmentally rather than cognitively

Bellugi (1988) (WS)

Often display fluent and expressive language

Tager-Flusberg (2000) (WS)

Even though they’re sociable they still have difficulty with social understanding

Niego - mirror conditions (WS)

Despite opposite social behaviour with ASD, they both show underlying social cognitive impairment

Meyer-Lindenberg (2005) (WS)

Atypical amygdala responses to social stimuli

Non-verbal memory (DS)

Non-verbal memory inconsistent. Influenced by task demands/ motivation

Rowe (2006) (DS)

Problems with inhibition and cognitive flexibility

Wishart (1990) (DS)

Avoid challenging cognitive task due to learned helplessness