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Increased understanding - Studying behavioural phenotypes allows researchers to develop a better understanding of intellectual disabilities.

Practical application - By having a better understanding, better care and support can be generated.

Reducing stigma - by raising awareness around behavioural phenotypes and intellectual disabilities, it can reduce stigma and allow members of society to better understand and accept people with intellectual disabilities.

Providing hope - by having more information about intellectual disabilities, their behaviour phenotypes and genetics provided, people can assess the severity of certain intellectual disabilities and will realise that those with mild-moderate disabilities can still function within society relatively normally, can work and socialise and be independent.

By understanding behavioural phenotypes, people can make more informed decisions regarding having children (i.e., if they are aware they are a carrier of a certain ID).

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- When looked at holistically, behavioural phenotypes can be valuable in diagnosis (O’Brien, 2000)

- Better for parents to know what to expect early on, allowing for preparation (Waite et al., 2014) e.g. Cri du Chat syndrome

- Behavioural phenotypes can help reduce stigma

- Helps in terms of interventions and putting programmes into place

- Development of measures enables clear differentiations between different syndromes (Steinhausen et al., 2002)

- Discrimination comes at the fault of the system and society as opposed to the actual diagnosis

- For Cornelia de Lange and fragile X syndromes, attentuated behaviour findings can encourage assessment by support services (Bell et al., 2018)

References: Bhate and Wilkinson (2006)

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What are the pros to the study of behavioural phenotypes?

Provides general information to the public -> people know more about the disorders and know what to expect, may decrease stigma of those with these disorders (Phelan et al., 2008)

Helps identify what is normal and what is not in development -> parents know what to expect so reduces their stress and helps identify issues

Better interventions -> patients have better support and management strategies, improves quality of life (O’Brien, 2006)

Understanding response to treatment -> able to develop specific treatment plans and help those improve their lives (Bryan et al., 2017)

Provides insight in genetics -> helps identify which genes are involved, help identify if someone has a disorder (Cassidy & Morris, 2002)

Understand how patients respond to environment -> e.g., those with Angelman syndrome smile a lot due to reinforcement (Waite et al., 2014) this can also help shape treatment

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Self-fulfilling prophecy

After diagnosis may exhibit behaviour according to the symptoms of the disorder, behavioural phenotypes not occurred naturally

Angelman syndrome - individuals may overexaggerate their behaviours especially in social settings because they are expected to due to their syndrome

Environmental aspects and epigenetics may not be accounted for

Reductionist view

Reinforce stereotypes and stigma

FXS can cause autism but it does not necessarily comorbid with autism

FXS may be Autistic like but it is not autism

Assumptions from the public that individuals are not capable of carrying out daily tasks

Genetic disorders being rare, sample size is small, thus, the reliability and validity of the studies conducted on it may be questionable

William's syndrome occurs - 1 in 7,500 to 1 in 20,000 people, very rare

Total specificity

Grouping specific behavioural phenotypes to one specific genotype

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• General information -> this can help inform clinicians, teachers, parents and support workers about what the people with these BP are dealing with

◦ Helps to inform reasonable adjustments in workplace and educational settings and allows people to be empathetic as they will have a general understanding of what it having an ID may come with

◦ Helps alleviate the stress on parents as they are able to understand that there are children just like theirs that go through these symptoms and display similar behaviour

• Government funding -> positive feedback loop as the more research into BP of IDs the more the government can inform policy and funding for the interventions and support available to people and families affected with these ID

• To oppose the point of stigma -> having a profound understanding and increasing awareness of BP in ID can help to decrease stigmas as stigmas often stem from a lack of understanding

• Can help the diagnostic process and differentiate between different conditions e.g. fragile X vs autism

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-            Total vs partial specificity- in total all people who have that disability have to show that behavior, in partial it’s the opposite.

-            You can’t use behavioral phenotypes solely because not everyone with the same disability will show the same characteristics.

-            Reinforces stereotypes and stigma because there is a bigger focus on the negatives and ppl may make assumptions about them. – social isolation- evidence in last lecture.

-            Behavioral phenotypes can lead to incorrect diagnoses. Same deletion on chromosome 15Q but leads to different behavioral phenotypes- e.g. Prader Willi and Angelman syndrome.

-            They also don’t look at changes over time e.g. in Williams syndrome decline in IQ in both men and women over time SES- The decline may be less harsh if in a higher economic state e.g. IQ in Williams syndrome declines in both men and women- if have more access to education may do better (resources quality, reading from peers)

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-            Deterministic

-            Behavioral phenotypes don’t consider the environment.

-            Some ppl with a disability will have it from a gene and others from the environment e.g. birth complications. Behavioral phenotype doesn’t consider this.

-            The research it comes from isn’t representative- self-selecting bias. Often from rich ppl. Milder side gets more coverage. The findings can’t be generalized to the whole disorder.

-            Gender differences in research- focus on males- maybe it presents differently in males.

-            Maybe if they don’t show the behavioral phenotype, they may not get the support they need.

-            Some of the characteristics aren’t very specific.

Conclusion – we should keep research into behavioral phenotypes but change the way it is researched to make it more representative and generalizable. Maybe have two different criteria for men and women for each syndrome as they present their symptoms differently. Ensure that research encapsulates the environmental factors as well as behavioral phenotypes and genetics.

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-       Financial and educational prep

-       Complications

-       Support at birth e.g., with Down Syndrome and heart conditions.

-       Access to the correct resources before things become unmanageable.

-       Helps creation of resources.

-       Understanding for child e.g., with ODD and fragile X. Challenging behaviour, Sensory sensitivities, Sleep issues (Raspa et al., 2017).

-       Increased awareness in the general population as well as in the medical field.

-       Realising and understanding capacity of the parents and people who will be taking care of the child. Parents to decide ultimately their ability to cope with things.

-       Developmental trajectories (Waite et al., 2014)

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Reductionist - tries to force people into categories of behaviours; perceives people too simply and doesn’t consider individual differences

Over-diagnosis - leads to an increase in comorbidity diagnoses as we are trying to put people into boxes; pathologising all behvaviours

Reinforces stereotypes - Angelman syndrome were assumed to be always happy but they aren’t inappropriately happy and do still respond to outside stimuli but these details are lost when focussing solely on “standard behaviours”

Self-Fulfilling prophecy - people exhibit behaviours based on their expectations and society’s expectations can push people towards particular behaviours that they wouldn’t exhibit had they not been stereotyped

Behaviours that aren’t common get overlooked and understudied ie Fragile X in women as they have more internalised behaviours so their condition/symptoms wont be picked up on and addressed as much

Takes away from the evironmental contexts; means that people think this is their behaviour and don’t look at the causal environmental factors ie Prader-Willis behaviours are mediated by anxiety and sensory overload

Leach-Nyamh syndrome, self injury is poorly studied and not understood the rationale behind the behaviour; potentially due to focussing on the behaviours themselves and not the contexts - confirmation biases

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1. Women will be able to make informed decisions about their body/life being able to support their future potential child
- having a child with severe ID = drastic lifestyle changes from children without ID
- could result in children going into care if parents can't look after the child
- Ratnofsky (1993) - children with ID 2x as likely to receive abuse/neglect

2. Helps provide support and answer questions if mother decides to continue pregnancy
- able to prepare - more support for the parents and the child
- able to provide early support / health interventions

3. Understand developmental delays and trajectories
- better able to understand child

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- by making the diagnosis / defining someone's feature in a 'black or white' manner instead of a spectrum -> affect how ppl evaluate life -> 'deciding' whether it's legal to abort, worthy enough to abort?
- (potentially) adding stress to the mother for not aborting if she really doesn't want to
- for the person himself/herself: self-fulfilling prophecy
- for society: reinforce stereotypes & stigmas -- ppl might have a lot of assumptions to the syndromes -> act & think biasly
- eg: XYY syndrome: their studies were biased -> leaning towards the individuals being more aggressive & violent -> could potentially cause more stigmatisation
- all of the definitions of syndromes are subjective --> there are individual differences (eg: severity, symptoms) in everyone with the same syndrome
- trajectory -- their symptoms & ability change across lifespan
- clear-cuts in diagnosing syndromes -> may affect the support that one should need --> also affects their family if the individual doesn't get diagnosed under this 'clear-cut' diagnostic definition -> lack support & funding from the gov. & community
- some symptoms may overshine the other & not get diagnosed -> preventing someone from getting the support
- may have false positives (=expressed same phenotypes of a syndrome, but don't have the genotype)
- not every genotype has the same direct effect on one's phenotype (other factors could affect too)
- confusion with other similar syndromes may occur (eg: ASD confused with FXS)
- dual diagnosis & diagnostic overshadowing
- encourages therapeutic nihilism

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Overlapping symptoms may lead to misdiagnosis which may mean individuals are not getting the necessary support - it may be better to adopt a person-centred approach where individuals' needs are assessed based on their own specific difficulties

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- Helps identify genes that influence development of social and cognitive skills, and may allow understanding of human behavioural patters in general

- understanding the development of neural systems that are dysfunctional in a range of neurodevelopmental disorders, in both childhood and adulthood

- Helps prepare parents before birth of child, many children have easily identifiable manifestations such as folds in the neck with down syndrome. Can educate them and supporting family members

- important for early intervention and management and improving quality of life of families e.g. Prader-Willi syndrome: implementing dietry management and anxiety calming measures

- can also give women the option to make informed decisions if they believe they cannot provide sufficient support to bring up a child with difficulties

- Can be used to help parents understand and feel less guilt over the child. Reassures them that behaviour is not the child willingly behaving 'naughty' or 'unusual' and that it is the genetic condition causing it e.g. self injury of Lesch-Nyhan

- Can help with diagnosis after birth if not already discovered

- making links between genotype and phenotype to help understand genetic conditions better

- encouraging parents to join help groups to find likeminded families and children with similar difficulties to share experiences