PSY2004 S2 W1 Atypical Development Flashcards
What do we mean by neurodevelopmental conditions?
lifelong condition that affects how the brain develops and leads to atypical development. Effects can range from mild differences to severe difficulties. Can be caused by genetic or envrionmental factors or a combinatino of both.
What terms were used in the past ?
Misguided Historical Language
‘Idiocy’ / ‘Imbecile’ (16th century) – Historical terms for individuals with an Intellectual Disability
‘Idiots Savants’ (1887) – patients with exceptional abilities in an extremely narrow field.
‘Attentio volubilis’ (1775) – ‘Easily Rotating’ Patients who are easily distracted/find it hard to maintain attention.
What was the context of 1913 and mental health intervention?
Mental Deficiency Act’ institutionalisation for children labelled ‘mentally defective’
Cyril Burt – first government appointed psychologist. Worked with London County Council, responsible for identifying ‘feeble minded’ children
What was the context of 1920s and mental health intervention?
The ‘Commonwealth Fund’ funded child guidance clinics.
American philanthropic body began to provide funds for the purposes of improving child guidance services in Britain. Early child guidance clinics were used to direct child-rearing practices and to guide the behaviour of problem children. [children specific intervention]
What was the context of 1920-30s and mental health intervention?
Expansion of charitable and governmental services for the psychological wellbeing of children
What was the context of 1959 and mental health intervention?
‘The Mental Health Act’ –The Act emphasized the importance of human rights and dignity for individuals with mental health conditions. [everybody should have access to dignity]
Children were no longer mandatorily institutionalised!
Local authorities were now responsible for their care and many institutions closed.
What was the context of 1960-80s and mental health intervention?
A largescale movement to universalise neurodevelopmental concepts across psychiatry, psychology and neuroscience
What did the shift in responsibility to local government for the care lead to?
1959
Led to a huge shift in mindset, partially led by parent advocacy – greater understanding was needed to fully understand the appropriate care for different individuals.
Waht factors drove the universalisation of term for neurodevelopmental coditions?
1960s
Growing International Collaboration
Advancements in Research
Need for Standardized Diagnosis and Treatment:
Was a significant step in advancing in the understanding of neurodevelopment condition
Why is it a big shift the official recognition of intellectual disabilities?
Intellectual disability had previously been viewed as part of other diagnoses, and not a diagnosis within its own right.
When were the offocial recognitions of certain condition?
Autism – 1943
ADD - late 1960s [now ADHD]
Down Syndrome – 1866
William’s Syndrome – 1961
Foetal Alcohol Syndrome – 1973
Intellectual Disability (Standalone) – DSM III, 1980
How were conditions treated in hisotry ?
Each condition was treated as a discrete, standalone diagnosis until relatively recently. No overlap at the time
When did developmental disorders appear ?
First appeared in 1820.
However, ‘neurodevelopmental conditions’ as a group label didn’t appear in the DSM until the 5th edition in 2013 - now have an understanding of the overlap between different behaviours & characteristics across conditions.
What are key featuers of the DSM
Diagnostic Statistical Manual of Mental Disorders
Diagnostic criteria, common lanaguge, research tool
What factors lead to the inclusion of developmental conditions ( yet to be labelled neurodevelopmental)
Growing recognition and research, need for consistency adn reliability and advoacy efforts
How did the growing recognition and research contribute to the inclusion of the category ‘developmental conditions’?
Increased scientific research and a growing understanding of neurodevelopmental conditions led to greater recognition of their distinct characteristics and impact.
This provided the foundation for developing specific diagnostic criteria.
How did the need consistency and reliability contribute to the inclusion of the category ‘developmental conditions’?
Prior to DSM-III, diagnoses were often inconsistent and varied significantly between clinicians.
The need for a standardised system for diagnosing and classifying these conditions was crucial for improving communication, research, and treatment planning.
The DSM-III’s emphasis on observable and measurable behaviours aimed to increase the objectivity and reliability of diagnoses
How did advocacy efforts contribute to the inclusion of the category ‘developmental conditions’?
Advocacy groups and families of individuals with neurodevelopmental conditions played a crucial role in raising awareness and advocating for their inclusion in the DSM-III.
What is a problem with the categorisation of conditions in the DSM?
They are categorised in a distinct manner with no overlap however in reality there’s overlap.
What are the key categories of developmental conditions in the DSM?
Learning disorders [Dyslexia, Dyscalculia], Mental retardation [Down syndrome, Foetal Alcohol Syndrome], Motor Skills Disorders [tourette’s, cerebral palsy, dyspraxia], Communication Disorders [stuttering, specific language impairment], Pervasive Developmental disorders [Autism, Rett syndrome]
What was a change in the DSM-IV-R (2013)?
The DSM-5-R recognizes that many developmental disorders have underlying neurological and biological origins. You can have multiple condition, you can be diagnoses with multiple, which was not the case in the past.
What conditions were grouped into one broad category of neurodevelopmental conditions in the DSM IV 2013?
Intellectual Disability [Cat 1]
Autism Spectrum Disorder [Cat 2]
Attention-Deficit/Hyperactivity Disorder (ADHD) [Cat 3]
Specific Learning Disorder [Cat 4]
Motor Disorders (including Tic Disorders) [Cat 4]
Communication Disorders [Cat 5]
What is the note on langauge?
Traditionally negative language “impariments” “deficit”, more approrpiate to use terms such as “condition” “difference”. Person-first language, e.g. “person with autism” or identity-first language, e.g. “autistic person”.
What are the multiple reasons for atypical development?
Pre-natal effects (e.g. exposure to teratogen) = Fetal Alcohol Spectrum Disorder [teratogen]
Environmental effects (e.g. complications during birth) = Cerebral Palsy
Genetic effects = Hereditary & Spontaneous mutations (e.g. Copy Number Variants)
Unknown (likely multifaceted) effects = Autism Spectrum Conditions & ADHD
What does DNA contain?
DNA contains ‘instructions’ for building proteins. This is the basis for all of our development: the entire structure and function of the body is governed by the types and amounts of proteins the body synthesizes.
What are genes?
DNA is packaged into genes. Humans have about 21,000 different genes. Genes are contained in chromosomes. Each chromosome contains 100s to 1000s of genes
How do geneticist label particular parts of the chromosome?
Chromosome Arm (p/q) and Chromosome Region
What are Chromosome Arms?
On each chromosome, there is a short arm (labelled p for petite) and a longer arm (labelled q)
What are Chromosome Regions?
Chromosome regions are labelled with numbers, with lower numbers representing a region of the chromosome that is closest to the centre.
What can chromosomal abnormalities lead to?
Atypical Development
Why does genetic abnormalities occur?
Occurs when there are either too many or too few occurrences of particular genes. This can happen in various ways (e.g. extra chromosomes = Down’s syndrome) or parts of chromosomes that are either duplicated or deleted = extra/missing copies of some genes = COPY NUMBER VARIANTS CNVs
What are some developmental conditions that stem from genetic cause?
16p.11.2 (an example of a copy number variant)
William’s syndrome
Down’s syndrome
What are some developmental conditions that stem from environmental cause?
Fetal Alcohol Spectrum Disorder (FASD)
What are some developmental conditions that stem from unknown and probably multifaceted and multiple causes?
Autism Spectrum Conditions
ADHD
Intellectual Disability
What is 16p11.2?
16p.11.2 deletions and duplications have come under research scrutiny recently due to their association with a range of developmental conditions including ADHD, autism, intellectual disability, as well as anxiety and OCD
What are the varied presentations of 16p11.2?
Leads to developmental delay, autism, intellectual disability in some. But in others remains undetected due to no physical or developmental symptoms.
Why is it difficult to know the incidence/prevelance of 16p11.2?
Because if you don’t have a problem you don’t go for a genetic test. Generally, only detected when children come to clinic with signs of developmental delay and autistic features.
What causes william’s syndrome?
Spontaneous deletion at chromosome 7q11.2.
What characterises William’s syndrome?
Characterized by a distinct facial appearance, cardiac anomalies, highly sociable personality, atypical cognitive profile, and connective tissue abnormalities.
Is rare: affects ~ 1 in 10,000 people
What is the cognitive profile of Williams syndrome?
WS characterised by strengths in verbal IQ, compared with performance (visuospatial) IQ. Very strong in vocabulary and language fluency when describing an elephant but poor in drawing it.
What causes down syndrome?
Caused by a duplication of Chromosome 21.
Full duplication or partial duplication.
What are the different areas that are affected by down syndrome?
Physical and cognitive
What are the cognitive characterisitcs of Down syndrome?
Short attention span
Impulsive behaviour
Slow learning
Delayed language and speech development
Variable IQ (average between 30 -70)
What are the physical characterisitcs of Down syndrome?
Decreased or poor muscle tone
Shorter neck
Flattened facial profile and nose
Upward slanting eyes
Wide, short hands with short fingers
A single, deep, crease across the palm of the hand
What causes Fetal alcohol spectrum disorder?
Alcohol (teratogen)
Not clear on the amount of alcohol needed, edpends on when during the gestation period alcohol is consumed. Binge drinking leads to more severe symptomes.
What is a teratogen?
Agent which causes change in an embryo (e.g. alcohol)
What is the prevelance of FASD?
Prevalence estimates suggest about 2% - 3% of elementary school children in Ontario, Canada have FASD.
What is the effect of athanol?
Ethanol (compound within alcohol) thought to alter DNA and protein synthesis and inhibit cell migration, leading to an array of physical and cognitive changes.
What is Fetal alcohol spectrum disorder?
FASD is a diagnostic term describing the constellation of effects that result from prenatal alcohol exposure.
What is the diagnosis criteria?
- Abnormal facial features, (e.g. smooth ridge between the nose and upper lip).
- Small head size (microcephaly)
- Shorter-than-average height
- Low body weight
- Poor coordination
- Hyperactive behaviour
- Difficulty with attention
- Poor memory
- Difficulty in school
- Learning disabilities
- Speech and language delays
- Intellectual disability or low IQ
- Poor reasoning and judgment skills
- Sleep and sucking problems as a baby
- Vision or hearing problems
- Problems with the heart, kidneys, or bones
What is a limitation of the diagnositic criteria of FASD?
symptoms/behaviours overlap with other conditions like ADHD. How can we be sure which one is the one
How are intellectual disabilities diagnosed?
Diagnosis based on IQ evaluation as well as investigation of adaptive behaviour, and classified as mild (52-69 IQ), moderate (36-51 IQ), severe (20-35 IQ) or profound (<19).
NB. Average neurotypical IQ ~100
What is an Intellectual disability?
Is a diagnosis in its own right, but also often co-occurs with other neurodevelopmental conditions, e.g. autism, FASD, specific genetic conditions.
Affects ~ 10.4 people in every 1000 (1.4%).
Is there a clear cause for autism and ADHD?
No clear cause for either ADHD or Autism. Likely caused by numerous contributing factors. Asthere is no clear cause there isn’t a definitive test as with genetic conditions. iagnosis is made by behavioural observations. Check if behaviour matches the criteria laid out in the Diagnostic and Statistical Manual (version 5)
What are characterisitcs of autism?
deficits in social communication and social interaction. Restricted, repetitive patterns of behaviours, interests or activity
