Intellectual disability Flashcards
Underlying genetic pathology of Angelman syndrome
lack of maternal contribution to a portion of chromosome 15
Morphological features of Angelman syndrome
microcephaly
strabismus
coarse facial features
hypopigmentation of skin and eyes
Behavioural phenotype and associated physical disorders in Angelman syndrome
hand flapping
frequent laughter
happy demeanour
excitability
seizure disorder
ataxia
scoliosis
Underlying genetic pathology of Cornelia de Lange syndrome
mutations in different genes (eg. NIBPL, SMC1A, SMC3, HDAC8, RAD21)
Morphological features of Cornelia de Lange syndrome
microcephaly
small and upturned nose
low-set ears
large philtrum
Behavioural phenotype and associated physical disorders in Cornelia de Lange syndrome
aggression
self-injurious behaviour
congenital heart disease
cleft palate
hearing impairment
gastro-oesophageal reflux
Underlying genetic pathology of Cri du chat syndrome
deletion of a section of the short arm of chromosome 5
Morphological features of cri du chat syndrome
microcephaly
hypertelorism
low set ears
round face
acrochordons (skin tags) in front of eyes
Behavioural phenotype and associated physical disorders in Cri du chat syndrome
cat-like cry
hyperactivity
aggression
repetitive movements
congenital heart disease
feeding difficulties
Underlying genetic pathology of Di George syndrome (velocardiofacial syndrome)
deletion of 22q11.2 region of chromosome 22
Morphological features of Di George syndrome
hypertelorism
cleft palate
preauricular ear tags
polydactyly
Behavioural phenotype and associated physical disorders in Di George syndrome
speech and language deficits
inattention
congenital heart disease
hypoparathyroidism
hearing impairment
recurrent infections
Underlying genetic pathology of Down syndrome
trisomy of chromosome 21
Morphological features of Down syndrome
brachycephaly
large tongue
epicanthal folds
brushfield spots
single palmar crease
small neck
Behavioural phenotype and associated physical disorders in Down syndrome
inattention
cheerful
sociable
reduced rates of maladaptive behaviours
congenital heart disease
hypothyroidism
GERD
coeliac
leukaemia
Underlying genetic pathology of fragile X syndrome
trinucleotide (CGG) repeat mutation in FMR1 gene on X chromosome
Morphological features of fragile X syndrome
long face
large ears
prominent jaw + forehead
joint hyperextensibility
macro-orchidism
Behavioural phenotype and associated physical disorders in fragile X syndrome
shyness
poor eye contact
inattention
impulsivity
hyperactivity
seizures
infertility
strabismus
autistic spectrum disorder
social anxiety
Underlying genetic pathology of prader willi syndrome
lack of parental contribution to a portion of chromosome 15
Morphological features of prader willi syndrome
narrow forehead
almond-shaped eyes
triangular (downturned) mouth
short stature
light skin and hair
Behavioural phenotype and associated physical disorders in prader willi syndrome
hyperphagia
skin picking
aggression
stubbornness
obesity
hypogonadism
infertility
scoliosis
T2DM
compulsive behaviour
sleep disturbances
Underlying genetic pathology of Lesch nyhan syndrome
HPRT mutation on X chromosome
Morphological features of lesch nyhan syndrome
coarse facial features
short thumbs and great toes
Behavioural phenotype and associated physical disorders in Lesch nyhan syndrome
self-mutilation
involuntary muscle movements
hypotonia
gout
renal + bladder calculi
severe self-injury
Antenatal factors that can predispose to intellectual disability
pregnancy distress
exposure to toxic substances eg. alcohol, cocaine, cannabis, radiations, pollutants, heavy metals
medications (phenytoin, valproate warfarin)
prenatal viral illnesses (TORCHES)
maternal hypoglycaemia, diabetes, hypoxaemia + malnutrition
Perinatal causes that can predispose to intellectual disability
3rd trimester complications (placenta praevia, chronic infections, uncontrolled gestational diabetes, severe pre-eclampsia/eclampsia, maternal cardiac problems, renal disease)
complications of labour + delivery (severe prematurity, very low birth weight, birth asphyxia + birth trauma)
neonatal complications (septicaemia, severe jaundice, hypoglycaemia)
Postnatal causes that can predispose to intellectual disability
infective encephalopathies (viral, bacteria, tuberculous)
traumatic brain injury
chronic lead or other toxin exposure
severe and prolonged malnutrition
inadequate caregiving, low level of stimulation and social deprivation
physical abuse, neglect
IQ range for mild learning disability
50-75
IQ range for moderate learning disability
35-49
IQ range for severe learning disability
20-34
IQ range for profound learning disability
<20
What is a challenging behaviour in learning disability?
socially unacceptable behaviour that causes distress, harm, or disadvantage to the persons themselves or to other people, and usually requires some intervention
eg. aggression, self-injury, sexually harmful behaviour
