Intellectual Disability

Question 1

Intellectual Disability

Answer 1

Significant impairment of intellectual and social development during the normal developmental phase

Significant impairment of intelligence

Significant impairment of social functioning

Question 2

Impairment of intelligence

Answer 2

Mild 69-50 9-12 yo

Moderate 49-35 6-9 yo

Severe 34-20 3-6 yo

Profound <20 <3 yo

Question 3

Diagnostic screening questions

Impaired cognitive functioning

Answer 3

• Autobiographical details
• Time - clock face vs digital
• cohérent histrory of what has happened to them

Question 4

Diagnostic screening questions

Impaired social functioning

Answer 4

Can they work or perform job-related tasks?

Can they cook and manage household tasks?

Can they use public transport independently?

Question 5

Diagnostic screening questions

Started in childhood

Answer 5

Was the person ever told they had a learning disability

Did they have a statement of educational needs? Extra help in the classroom

Question 6

Challenging behaviour

Answer 6

Challenge to others/services rather than a manifestation of a psychopathological process.

Culturally abnormal behaviour of such an intensity, frequency or duration that physical safety is likely to be placed in serious jeopardy, or limit use/deny access to ordinary community facilities

Threatens QoL +/- safety of individuals or others, likely to lead to responses that are restrictive or aversive

Question 7

Behavioural issues in LD

Answer 7

Physical
Mental illness
Neuropsychiatric disorders
-epilepsy, Tourette's, ADHD, dementia
Pervasive developmental disorders

Phenotype-related disorder

Psychological

Communication difficulties

Sensory disability

Environmental - staff, training, consistency, relationships, social participation, patient needs

Question 8

Autism screening in LD

Answer 8

ADOS-G

ADI-R

Question 9

X-linked recessive

Lesch Nyhan

Answer 9

X-chromosome mutation  in HPRT gene.
Male.
High uric acid, goût, renal. Dystonia, chorea, ballismus.
Self-injury - severe, self-mutilating
Microcephaly

Question 10

Angleman

Deletion, maternal 15q12

Answer 10

Severe/profound LD
Happy, hand flapping, paroxysmal laughter, hand flapping, clapping, ataxia.

Epilepsy = 90%

66% fair hair, blue eyes; microcephaly; flattened occiput, long face, prominent jaw, wide space teeth, thin upper lip, pointed chin

Question 11

X-linked recessive

Hunter’s syndrome

Answer 11

Increased glycosaminoglycans
Noticeable after 1 yo

Coarse face, flat nasal bridge
Flared nostrils
Ataxia, hearing loss, hernia
Hepatosplenomegaly
Growth retardation, joint stiffness
CVS abnormalities 

Loss of speech ages 8-10, delayed speech
Hyperactive, inattentive, restless

Question 12

X linked dominant - most common inherited

Fragile X

Answer 12

FMR1
Boys = mod/severe LD
Girls = mild LD

Physical; long face, large head/ears, macroorchidism; lax joints, MV prolapse, epilepsy 20-25%

Shy, gaze avoidance, social anxiety, communication difficulties

50% ASD criteria

CGG triplets on long arm; >200

Question 13

X-linked dominant

Rett syndrome

Answer 13

MECP2
Females
Onset 7-24 months
Normal development then loss of fine motor hand skills, language 
Hand wringing, hyperventilation 

90% epilepsy

Question 14

Autosomal dominant

Answer 14

Tuberous sclerosis

Learning disability, all degree (30% none)
Seizures
Ash leaf spot, depigmentation
Hamartoma CNS
ASD, hyperactivity, impulsivity, self-injury

Neurofibromatosis type 1

Chr 17; NF1 tumour CNS

Cafe-au-lait
Freckling, axillary
Optic glioma
Lisch nodule, iris harmartoma

50% speech and language
10% mod-profound ID, verbal IQ>performance IQ

Question 15

Autosomal recessive

Answer 15

PKU - severe LD, language delay
         25% seizures
         Microcephaly
          Self-injury
         Musty odour, hypopigmentation

Hurler syndrome

Death <10
Increased glycosaminoglycans
Hepatosplenomegaly, hirturism, corneal clouding, coarse facial features

Decline in IQ and physical skills

San filipo
Severe LD
Dwarfism, claw hand, hypertrichosis, hearing loss, joint stiffness, hepatosplenomegaly

Laurence-moon-biedl

Polydactly, retinitis pigmentosa, night blindness, spastic paraplegis, NIDDM, renal

Mild-moderate LD

Question 16

Behavioural phenotype: self-harm

Answer 16

Lesch Nyhan: compulsively severe self-mutilating. Appears age 2-3.

Smith-Magenis: hyperactive, impulsive, stereotypies (self-hugging), self-harm - head banging, nail pulling, objects into orifices

Prader Willi: skin picking, compulsive self-harm

Cornelia de Lange: habitual self-harm

Question 17

Prevalance rates of psychiatric disorders in LD

Answer 17

Schizophrenia 3%
BPAD 1.5%
Depression 4%
Agoraphobia 1.5%
OCD 2.5%
Autism 7%
Challenging behaviour 10-15%

Question 18

Autism and LD

Answer 18

Mild - 10% may have ASD
Severe - up to 40% ASD

75-80% of children with autism also have a LD

Question 19

Psychotropic meds in LD

Answer 19

Antipsychotic - psychosis, behaviour
Antidepressant- depression, anxiety, ocd, self-injury
AED; epilepsy, rapid cycling, episodic dyscontrol
Lithium
Need EEG first, FBC and renal as can cause seizures. Bipolar, aggressive behaviour/self-harm

Stimulant - ADHD
Naltrexone - self injury

Anti-libidinal drugs (cyproterone acetate, medroxyprogesterone) sexual offending and problematic behaviour

Question 20

XXX

Answer 20

60-70% mild LD
Delayed language, motor coordination problem, accelerated growth until puberty, premature ovarian failure

Anxiety, ?schizophrenia

Question 21

45XXY, Klinefelters

Answer 21

Primary feature sterility
Gynaecomastia, sparse body hair, hypogonadism
Tall, thin
Most IQ in 60-70, although average 90
Intorvert, less assertive, less social

Question 22

Aetiology of ID

Answer 22

Genetic = 5%
Acquired medical condition = 5%
Pregnancy = 10%
Environnement = 15-20%
Unknown = 30-40%