Genetics and Environment

Question 1

2 contrasting approaches to cognitive development and influence of genes

Answer 1

1. Constructivist: cognitive abilities emerge as a product of complex dynamic interactions between GxE.
2. Nativist: genetic influences determine cognitive abilities (impaired specific modules).

Question 2

Fragile X prevalence and carriers

Answer 2

1. Full mutation: 1/4000 males and 1/6000 females.
2. Premutation carriers: 1/800 males and 1/260 females.

Question 3

FXS genotype

Answer 3

1. X-linked gene (FMR-1 gene silenced).
2. FMR protein (FMRP) not expressed. Involved in regulating glutamatergic and GABAergic balance.

Affects dendritic morphology and neurotransmitter regulation (eg. dopamine).

Question 4

FXS neuroscience

Answer 4

Decreased cerebellar vermis volume and hypoactivation across multiple cognitive control networks.

Question 5

FXS and rate of neurodiversity

Answer 5

By middle/late childhood:
1. 70% fulfill ADHD diagnosis.
2. 33-67% fulfill ASD diagnosis.

Question 6

FXS strengths and weaknesses

Answer 6

Strengths: face recognition, LTM, receptive language.
Weaknesses: attention and EF, WM, social cognition.

Question 7

Cornish et al. (2013) big fish sustained attention and WM task FXS

Answer 7

Cross-sectional: TD children showed improvement in accuracy with age; FXS children showed flatter trajectories (developmental freeze in attention and memory?).

Longitudinal: unlike cross-sectional results suggested, there were also clear improvements in FXS children as they developed.

Question 8

2 potential explanations of variability across individuals with same monogenic disorder

Answer 8

1. Differences in environmental input over developmental time.
2. Gene-gene interactions. How other genes involved in (eg. glutamate or GABA neurotransmission) interact.

Question 9

ASD and ADHD symptoms related

Answer 9

ADHD symptoms may predict ASD symptoms.

Question 10

FXS and language ability

Answer 10

Verbal abilities of FXS better than visuo-spatial cognition.

Delayed early expressive and receptive vocabulary: expressive vocab at 1/3 normal rate, receptive vocab at 1/2 normal rate, poor syntax, poor pragmatics, highly repetitive speech.

Related to executive and attentional dysfunctions.

Question 11

FXS and attention and language

Answer 11

Early attention measures predict later language development.

Question 12

Other syndromes with genetic high risk for ADHD

Answer 12

Down syndrome and Williams syndome

Question 13

Biological, cognitive, and behavioural differences of FXS

Answer 13

1. Biological: dopamine-related genes, prefrontal and other differences.
2. Cognitive: attention and social differences.
3. Behavioural: inattention/hyperactivity, social anxiety, social interests.

Question 14

3 diagnostic criteria of foetal alcohol syndrome

Answer 14

Environmentally caused.
1. Specific patterns of facial features.
2. Pre- and postnatal growth anomalies.
3. Neurological dysfunction (microencephaly - small head - and developmental delay).

Question 15

5 discriminating features of foetal alcohol syndrome

Answer 15

1. Short palpebral fissures (small horizontal eye openings).
2. Flat midface.
3. Short nose.
4. Indistinct philtrum.
5. Thin upper lip.

Question 16

Foetal alcohol syndrome change in brain size and structure

Answer 16

Lower volume of cerebrum and cerebellum. Difference in corpus callosum.

Question 17

4 associated features of foetal alcohol syndrome

Answer 17

1. Epicanthal folds (eye folds).
2. Low nasal bridge.
3. Minor ear anomalies.
4. Micrognathia (small/receding lower jaw).

Question 18

IQ in foetal alcohol syndrome

Answer 18

Lower than controls.

Question 19

Foetal alcohol syndrome and EF and tower of london

Answer 19

Poor EF. Much more rule violations than controls.

Question 20

Which condition is foetal alcohol syndrome comorbid for?

Answer 20

ADHD

Question 21

Foetal alcohol syndrome and language

Answer 21

A range of language difficulties.

Question 22

Dowstream consequences of foetal alcohol syndrome

Answer 22

MH problems, trouble with law, low educational achievement, high unemployment….

Protective role of environment too.

Question 23

Genie discovery

Answer 23

Discovered at 13;7. Had experienced extreme physical and psychological deprivation from 0;20.

Question 24

Genie progress

Answer 24

Good progress, but never acquired linguistic competence or normal social adjustment.

Question 25

Skuse (1984) reviewing cases of deprivation

Answer 25

Children are likely to recover well from deprivation if there are not any major genetic problems, birth defects, or severe malnutrition.

Question 26

3 strengths of English Romanian adoption study

Answer 26

1. Large N with longitudinal data into adulthood. 2. Early deprivation did not depend on parents (so genes random). 3. Child's age-at-adoption determined by fall of regime (time-in-care not related to child factors).

Question 27

Physical catch-up of Romanian adopted children by 4 years of age

Answer 27

UK children heavier, taller, with larger heads. Difference most marked for late-adopted (>6months) children.

Question 28

What determines physical and cognitive catch-up

Answer 28

Age at entry to UK: <6months cut-off. IQ for <6months comparable to UK sample.

Question 29

Romanian and autism rate

Answer 29

6% showed autistic-like behaviour at 4 years; 6% showed milder autistic features. Higher than general population risk.

Question 30

Romanian vs. UK children on autism distribution

Answer 30

Most Romanian adoptees scored similarly to UK adoptees on the ASQ. Most Romanian adoptees were not autistic.

Question 31

Romanian follow-up autism

Answer 31

Most children no longer met autism criteria by age 11–12.

Question 32

Romanian and ADHD

Answer 32

Much higher rate of ADHD in high deprivation compared to low deprivation group throughout life.

Question 33

Outcomes associated with high deprivation

Answer 33

1. ADHD. 2. (Quasi) autism. 3. Low educational achievement and high unemployment 4. Higher rate of emotional and MH problems.

Question 34

Institutional deprivation syndrome

Answer 34

1. Core difficulties are disinhibited social engagement and quasi-autism. 2. Associated difficulties are cognitive impairment and deprivation-specific ADHD. 3. Dose-related effect (>6 months) 4. Highly persistent over time, despite long-term strong environment support.