Intellectual Disability

Question 1

DSM5 Diagnostic Criteria for Intellectual Disability.

Answer 1

The following three criteria must be met:
A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing.

B. Deficits in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility. Without ongoing support, the adaptive deficits limit functioning in one or more activities of daily life, such as communication, social participation, and independent living, across multiple environments, such as home, school, work, and community.

C. Onset of intellectual and adaptive deficits during the developmental period.

Question 2

Define intellectual Disability according to the DSM 5

Answer 2

Intellectual disability (intellectual developmental disorder) is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical domains

Question 3

How is adaptive functioning assessed?

Answer 3

Vinelands adaptive behavior scale.
Assesses communication, daily living skills, socialising, motor skills, Maladaptive behavior index.

Question 4

How is intellectual function assessed?

Answer 4

IQ tests: Verbal and Non-verbal

Question 5

Describe Fragile X syndrome

Answer 5

Mutation on the X chromosome at the fragile site
Incidence 1 in 2200
Mild to severe ID
Physical phenotype
Behavioural phenotype and neurological abnormalities
Females usually less impaired

Question 6

Describe Velocardiofacial Syndrome

Answer 6

Microdeletion at 22q11.2 site
1 in 3000 births

Cardiac, palatial, facial malformations, hypoparathyriodism, thymic hypoplasia, urinary system abnormalities, haematological problems

Language and motor delays in children, autistic traits

40% have ID

Behavioural phenotype: -poor social skills, psychotic disorder (20-30% and 1-2% of people with schizophrenia) Bipolar disorder (60%), ADHD (36%)

Question 7

Prader-willi syndrome

Answer 7

Physical Phenotype
Behavioural Phenotype
Co-morbidity- Medical
- Psychiatric

Question 8

Tuberous Sclerosis Complex

Answer 8

Spontaneous mutation (70%) or autosomal dominant (30%)

1 in 5800 births

Characteristic facial skin lesion may be present
Multisystem involvement, 80% have epilepsy, 50% have ID, 40-50% have ASD and 30-50% have ADHD and many have anxiety and mood related disorders.

Brain or renal tumours can cause medical crises.

Medication with mTOR inhibitors is being researched