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

-       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)

-            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)

-             

-            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.

◦ 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

• 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

• 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

- 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)