Intellectual disability Flashcards
How do people woth learning disabilities often express pain
‘Aggressively’
eg tooth pain may hit jaw
How do people woth learning disabilities often express pain
‘Aggressively’
eg tooth pain may hit jaw
Levels of intellectual disability
Mild
Moderate
Severe
Profound
What is IQ in mild disability?
50 to 70
Moderate intellectual disability IQ?
35 to 50
3-4 Standard deviations below mean
Severe intellectual disability IQ
20-35
Profound intellectual disability
<20
Why is IQ no longer used to make diagnosis of intellectual disability?
Overall score IQ doesnt indiccate strengths or weaknesses, social adaptation and function
Mild intellectual disability features
Lower end normal IQ distribution
Communicate with spoken language
Multifactorial genetic and environemtnal factors
Higher rates in social class IV and V
-Definite organic, subtle genetic, perinatal facotrs
Perinatal factors for intellectual disability
Alcohol, drugs, medications, maternal infections etc
Features of moderate to severe intellectual disability
Greater degree of care often including physical care to assist with feeding, contincence etc
Nearly always organic pathology for severe
Distribution of causes of severe and profound intellectual disability
Chromosomal 40%
Other genetic 15%
pre & peri-natal 10%
post-natal 10%
unknown 25%
Profound intellectual disability features
Excess numbers at more severe levels (‘bump’ on IQ curve)
Due to organic or pathological group with cluster of disorders of definable aetiology
Genetic
Environmental
Some will have syndromes like cerebral malformation syndromes or cerebral palsy, without yet defined cause
Chromosomal abnormalities causing intellectual disability
Down’s Syndrome (trisomy 21), Prader-Willi Syndrome (microdeletion on chromosome 15)
Chromosomal abnormalities causing intellectual disability
Down’s Syndrome (trisomy 21), Prader-Willi Syndrome (microdeletion on chromosome 15)
Genetic disorders causing intellectual disability
Fragile X Syndrome (X-linked), PKU (autosomal recessive), tuberous sclerosis (autosomal dominant)
Causes of intrauterine and neonatal damage causing intellectual disability
infections (rubella), foetal alcohol syndrome, prematurity, labour complications
Developmental and anatomical abnormalities of CNS - intellectual disability
e.g. neural tube defects (Intellectual disability usually secondary to hydrocephalus or infection), cerebral palsies
Late post natal causes of intellectual disability
e.g. encephalitis, meningitis, trauma, hypoxia (for example, due to severe epilepsy)
Examples of complex disorders
Retts syndrome
What is the commonest identifiable cause of intellectual disability?
Downs syndrome
Common physcial problems with Downs
Early onset dementia -alzeihmers
depression
Congenital heart defects
Hypothyroidism
Visual disorders - cataracts + keratococonus
Hearing imapriment - middle ear infections, conductive hearing loss, early onset of presbyacusis
Obesity
Epilepsy
Degenerative spine disorders
Atlanto axial joint subluxation
DM
Infections
Prader-Willi on mothers side
Angelmans syndrome
What trisomy is Downs?
21
Commonest inheritbale cause of intellectual disability
Fragile X
How severe is Downs syndrome?
Moderate to severe
Fragile X severity
Borderline to moderate
Face appearnace fragile X
Large head circumfernece, long and prominenet ears
Physical features of Fragile X
mitral valve prolapse
lax joints
scoliosis
flat feet
testicular enlargement
Behavioural features of Fragile X
poor concentration, hyperkinetic behaviour, avoidance of eye contact and significant social anxiety
What is Prader Willi syndrome>
Genetically determined neurodevelopmental disorder
microdeletions on chromosome 15
Infants with prader willi syndrome
Extremely hypotonic, failure to thrive, feeding difficulties
Prader Willi syndrome from age 2
mild developmental delay, tendency to skin pick, obesity
Difficulty controlling eating behaviour
Prader Willi syndrome physically
Short stature, failure of normal secondary sexual development
Complications of Prader Willi
diabetes mellitus, sleep and respiratory disorders
IQ with Prader Willi
60
Clozapine GI effects
Constipation
EHCP
Educational Health Care Plan
til 25
Difficuties accessing healthcare
inability to recognise symptoms
realise their significance
know what service to seek help from
difficulty in communicating these symptoms effectively
diagnostic overshadowing
Psychiatric co morbidities with intellectual disability
ASD, ADHD, Attachment Difficulties, Depression/Anxiety, Psychosis and Dementia
neurodevelopmental disorders, gender dysphoria, dementia in Down’s Syndrome, social anxiety in Fragile X syndrome etc.
Causes of new symptoms
Physical causes– pain or discomfort, e.g. from ear infection, toothache, constipation, reflux oesophagitis, sensory impairments.
Psychiatric causes – depression, anxiety, psychosis, dementia.
Social/environmental causes – change in carers, disruption to routines, bereavement, abuse.
Causes of new symptoms
Physical causes– pain or discomfort, e.g. from ear infection, toothache, constipation, reflux oesophagitis, sensory impairments.
Psychiatric causes – depression, anxiety, psychosis, dementia.
Social/environmental causes – change in carers, disruption to routines, bereavement, abuse.
Presentation of psychiatric problems in intellectual disability
Level of disability: presentation in people with mild ID is often similar to general population whilst more severe to profound often present with more complexity
Communication difficulties: result in the need to have a high index of suspicion to diagnose illnesses due to reduced reports of symptoms
Challenging behaviour: is often reflective of anxiety rather than being “naughty” or oppositional
Emotional regulation difficulties: irritability and angry outbursts could be underpinned by sleep difficulties/insomnia
What is intellectual disability?
Disorder of intellectual development (originates in developmental period) characterised by significant below average intellectual and adaptive behaviour that is
-2, 4 SDs below mean or 0.003rd percentile
What below the mean is significant in intellectual disability?
2 - 3 standard deviations = mild
3-4 SDs = moderate
0.003rd percentile - profound
What is equivalent of 2 standard deviations from the mean in %?
2.5
If IQ under 70 but no problems functioning do they ahve an intellectual disability?
No
Why is the distribution curve for IQ skewed at the bottom?
Addition of pathological causes of intellectual disability
What is the test for functioning?
ABAS III (Adaptive Behaviour assessment system)
Skills assessed in ABAS-III
4 domains: Conceptual, Social, Practical, and General Adaptive Composite (GAC).
Skills assessed:
Communication
Community use
Functional academics
School/home living
Health and safety
Leisure
Self-care
Self-direction
Social
Motor
Work
What is the GAC?
General Adaptive Composite score - one of four domains taken from ABAS III. compares a person’s global adaptive skills to the adaptive skills of others in the same age group from the standardization sample.
What is WAIS?
Wechsler Adult Intelligence Scale - is an IQ test designed to measure intelligence and cognitive ability in adults and older adolescents.
Causes of profound intellectual disability
Environmental – hypoxia, trauma, infections
Genetic
Sydnromes eg cerebra malformation or cerebral palsy
What genetic disorder causing intellectual disbailitiy is autosomal recessive vs dominant?
PKU - recessive
Tuberous sclerosis - autosomal dominant
Facial appearance Downs syndrome
Small ears, eyes and head
Protruding tongue
Short stature and neck
Brushfield spots
Flattened nasal bridge
Epicanthal fold
What age do people woth Downs syndrome often get dementia?
40
What are brushfield spots?
- small, white spots in a ring in iris of eye seen in Downs syndrome
What is an epicanthal fold?
Upper eyelid skin fold covers inner corner of the eye seen in Downs
Which geneder is Retts syndrome seen in?
Girls - X linked
Signs of Retts syndrome
Wheelchair
Girl
Hand ringing
MDT around people with intellectual disbaility
Mental Health: Psychiatry, Psychology, CPN
Nurses - RNs, RMNs, RLDNs
Education and social care: schools, specialist provisions, respite provisions, social worker, support worker from social services
Physical Health: GP, Paediatricians, Nurses, Physiotherapists, Podiatrists, Dieticians, Cardiology, Neurology
Communication: Speech and Language Therapists
Activities: Occupational Therapists
Support: Carers, Family, Personal Assistants
What is difficulty in accessing health care often due to in intellectual disability?
inability to recognise symptoms
realise their significance
know what service to seek help from
difficulty in communicating these symptoms effectively
diagnostic overshadowing
Communication support for intellectual disabilities
Easy read documents
Communication passport when in hospital
PECS - picotrial aids
Makaton (sign language almost)
