Intellectual disability

Question 1

Underlying genetic pathology of Angelman syndrome

Answer 1

lack of maternal contribution to a portion of chromosome 15

Question 2

Morphological features of Angelman syndrome

Answer 2

microcephaly
strabismus
coarse facial features
hypopigmentation of skin and eyes

Question 3

Behavioural phenotype and associated physical disorders in Angelman syndrome

Answer 3

hand flapping
frequent laughter
happy demeanour
excitability
seizure disorder
ataxia
scoliosis

Question 4

Underlying genetic pathology of Cornelia de Lange syndrome

Answer 4

mutations in different genes (eg. NIBPL, SMC1A, SMC3, HDAC8, RAD21)

Question 5

Morphological features of Cornelia de Lange syndrome

Answer 5

microcephaly
small and upturned nose
low-set ears
large philtrum

Question 6

Behavioural phenotype and associated physical disorders in Cornelia de Lange syndrome

Answer 6

aggression
self-injurious behaviour
congenital heart disease
cleft palate
hearing impairment
gastro-oesophageal reflux

Question 7

Underlying genetic pathology of Cri du chat syndrome

Answer 7

deletion of a section of the short arm of chromosome 5

Question 8

Morphological features of cri du chat syndrome

Answer 8

microcephaly
hypertelorism
low set ears
round face
acrochordons (skin tags) in front of eyes

Question 9

Behavioural phenotype and associated physical disorders in Cri du chat syndrome

Answer 9

cat-like cry
hyperactivity
aggression
repetitive movements
congenital heart disease
feeding difficulties

Question 10

Underlying genetic pathology of Di George syndrome (velocardiofacial syndrome)

Answer 10

deletion of 22q11.2 region of chromosome 22

Question 11

Morphological features of Di George syndrome

Answer 11

hypertelorism
cleft palate
preauricular ear tags
polydactyly

Question 12

Behavioural phenotype and associated physical disorders in Di George syndrome

Answer 12

speech and language deficits
inattention
congenital heart disease
hypoparathyroidism
hearing impairment
recurrent infections

Question 13

Underlying genetic pathology of Down syndrome

Answer 13

trisomy of chromosome 21

Question 14

Morphological features of Down syndrome

Answer 14

brachycephaly
large tongue
epicanthal folds
brushfield spots
single palmar crease
small neck

Question 15

Behavioural phenotype and associated physical disorders in Down syndrome

Answer 15

inattention
cheerful
sociable
reduced rates of maladaptive behaviours
congenital heart disease
hypothyroidism
GERD
coeliac
leukaemia

Question 16

Underlying genetic pathology of fragile X syndrome

Answer 16

trinucleotide (CGG) repeat mutation in FMR1 gene on X chromosome

Question 17

Morphological features of fragile X syndrome

Answer 17

long face
large ears
prominent jaw + forehead
joint hyperextensibility
macro-orchidism

Question 18

Behavioural phenotype and associated physical disorders in fragile X syndrome

Answer 18

shyness
poor eye contact
inattention
impulsivity
hyperactivity
seizures
infertility
strabismus
autistic spectrum disorder
social anxiety

Question 19

Underlying genetic pathology of prader willi syndrome

Answer 19

lack of parental contribution to a portion of chromosome 15

Question 20

Morphological features of prader willi syndrome

Answer 20

narrow forehead
almond-shaped eyes
triangular (downturned) mouth
short stature
light skin and hair

Question 21

Behavioural phenotype and associated physical disorders in prader willi syndrome

Answer 21

hyperphagia
skin picking
aggression
stubbornness
obesity
hypogonadism
infertility
scoliosis
T2DM
compulsive behaviour
sleep disturbances

Question 22

Underlying genetic pathology of Lesch nyhan syndrome

Answer 22

HPRT mutation on X chromosome

Question 23

Morphological features of lesch nyhan syndrome

Answer 23

coarse facial features
short thumbs and great toes

Question 24

Behavioural phenotype and associated physical disorders in Lesch nyhan syndrome

Answer 24

self-mutilation
involuntary muscle movements
hypotonia
gout
renal + bladder calculi
severe self-injury

Question 25

Antenatal factors that can predispose to intellectual disability

Answer 25

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

Question 26

Perinatal causes that can predispose to intellectual disability

Answer 26

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)

Question 27

Postnatal causes that can predispose to intellectual disability

Answer 27

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

Question 28

IQ range for mild learning disability

Answer 28

50-75

Question 29

IQ range for moderate learning disability

Answer 29

35-49

Question 30

IQ range for severe learning disability

Answer 30

20-34

Question 31

IQ range for profound learning disability

Answer 31

<20

Question 32

What is a challenging behaviour in learning disability?

Answer 32

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