Intellectual Disabilities

Question 1

Diagnostic Criteria for Intellectual disabilities - What three criteria must be met ?

Answer 1

A. Deficits in intellectual functions.
B. Deficits in adaptive functioning.
C. Onset of intellectual and adaptive deficits during the developmental period.

Question 2

What are some examples of ‘deficits in intellectual functions’

Answer 2

Reasoning
Problem solving
Planning
Abstract thinking
Judgment
Academic learning
Learning from experience

This must be confirmed by
both clinical assessment and individualised, standardised intelligence testing.

Question 3

What are some examples of ‘deficits in adaptive functioning’

Answer 3

Failure to meet developmental and socio­ cultural 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.

Question 4

How is severity identified for Intellectual disability?

Answer 4

The various levels of severity are defined on the basis of adaptive functioning, and not IQ scores, because it is adaptive functioning that determines the level of supports required.

Moreover, IQ measures are less valid in the lower end of the IQ range.

Question 5

Associated Features Supporting Diagnosis?

Answer 5

Social judgment; assessment of risk; self-management of behav­ior, emotions, or interpersonal relationships; or motivation in school or work environments.

Lack of communication skills may predispose to disruptive and aggressive behaviors.

Gull­ibility is often a feature, involving naiveté in social situations and a tendency for being easily led by others. Gullibility and lack of awareness of risk may result in exploitation by others and possible victimization, fraud, unintentional criminal involvement, false confessions, and risk for physical and sexual abuse.

Individuals with a diagnosis of intellectual disability with co-occurring mental disor­ders are at risk for suicide. They think about suicide, make suicide attempts, and may die from them. Thus, screening for suicidal thoughts is essential in the assessment process.

Question 6

Development and Course -
What is the onset of intellectual disability?

Answer 6

The age and characteristic features at onset depend on the etiology and severity of brain dysfunction.

Delayed motor, language, and social milestones may be identifiable within the first 2 years of life among those with more severe intellectual disability, while mild levels may not be identifiable un­til school age when difficulty with academic learning becomes apparent.

All criteria (in­ cluding Criterion C) must be fulfilled by history or current presentation.

Question 7

Risk and Prognostic Factors -
What are the prenatal genetic factors ?

Answer 7

Se­ quence variations or copy number variants involving one or more genes; chromosomal disorders.
Inborn errors of metabolism.
Brain malformations
Maternal disease (including placental disease).

Question 8

Risk and Prognostic Factors -
What are the environmental factors ?

Answer 8

Alcohol
Drugs
Toxins
Terato­ gens - things that a mother may be exposed to during her pregnancy (EG. MEDICAION)

Question 9

Risk and Prognostic Factors -
What are the postnatal factors ?

Answer 9

Hypoxic ischemic injury
Traumatic brain injury
Infections
Demyelinating disorders
Seizure disorders (e.g., infantile spasms)
Severe and chronic social deprivation
Toxic metabolic syndromes and intoxications (e.g., lead, mercury).

Question 10

Diagnostic Markers - not limited to the three diagnostic criteria.

Answer 10

A comprehensive evaluation includes an assessment of intellectual capacity and adaptive functioning; identification of genetic and non genetic etiologies; evaluation for associated medical conditions (e.g., cerebral palsy, seizure disorder); and evaluation for co-occurring mental, emotional, and behavioral disorders.

Components of the evaluation may include basic pre- and perinatal medical history, three-generational family pedigree, physical exam­ination, genetic evaluation (e.g., karyotype or chromosomal microarray analysis and testing for specific genetic syndromes), and metabolic screening and neuro-imaging assessment.

Question 11

Differential Diagnosis for intellectual disability?

Answer 11

Major and mild neuro-cognitive disorders
Communication disorders and specific learning disorder.
Autism spectrum disorder.

Question 12

Why is intellectual disability often associated with or mis diagnosed as Autism Disorder?

Answer 12

Intellectual disability is common among individuals with autism spectrum disorder. Assessment of intellectual ability may be complicated by social-communication and behavior deficits inherent to autism spectrum disorder, which may interfere with understanding and complying with test procedures.

Appropriate as­sessment of intellectual functioning in autism spectrum disorder is essential, with reas­sessment across the developmental period, because IQ scores in autism spectrum disorder may be unstable, particularly in early childhood.

Question 13

Why is intellectual disability often associated with or mis diagnosed as Communication disorders and specific learning disorder?

Answer 13

These neuro-developmental disorders are specific to the communication and learning domains and do not show defi­cits in intellectual and adaptive behavior.

They may co-occur with intellectual disability. Both diagnoses are made if full criteria are met for intellectual disability and a communi­cation disorder or specific learning disorder.

Question 14

Why is intellectual disability often associated with or mis diagnosed as Major and mild neurocognitive disorders?

Answer 14

Intellectual disability is categorized as a neu­ro-developmental disorder and is distinct from the neurocognitive disorders, which are characterized by a loss of cognitive functioning.

Major neuro-cognitive disorder may co­ occur with intellectual disability (e.g., an individual with Down syndrome who develops Alzheimer’s disease, or an individual with intellectual disability who loses further cogni­tive capacity following a head injury). In such cases, the diagnoses of intellectual disability and neurocognitive disorder may both be given.

Question 15

What co-occurring mental, neuro-developmental, medical, and physical conditions are frequent in intellectual disability?

Answer 15

Attention-deficit/hyperactivity disorder
Depressive and bipolar disorders
Anxiety disorders
Autism spectrum disorder
Atereotypic movement disorder (with or without self-injurious behavior)
Impulse-control disorders
Major neuro-cognitive disorder.

Individuals with intellectual disability, partic­ ularly those with more severe intellectual disability, may also exhibit aggression and disruptive behaviors, including harm of others or property destruction.

Question 16

What are the four subtypes of intelectual disability both in DSM-5 and ICD-11?

Answer 16

Mild, moderate, severe, and profound.

Question 17

What is Global Developmental Delay?

Answer 17

This diagnosis is reserved for individuals under the age of 5 years when the clinical severity level cannot be reliably assessed during early childhood.

This category is diagnosed when an individual fails to meet expected developmental milestones in several areas of intellec­ tual functioning, and applies to individuals who are unable to undergo systematic assess­ments of intellectual functioning, including children who are too young to participate in standardized testing.

This category requires reassessment after a period of time.

Question 18

What is Unspecified Intellectual Disability?

Answer 18

This category is reserved for individuals over the age of 5 years when assessment of the degree of intellectual disability (intellectual developmental disorder) by means of locally available procedures is rendered difficult or impossible because of associated sensory or physical impairments, as in blindness or prelingual deafness; locomotor disability; or pres­ ence of severe problem behaviors or co-occurring mental disorder.

This category should only be used in exceptional circumstances and requires reassessment after a period of time.

Question 19

Types of intellectual disabilities?

Answer 19

Fragile X syndrome
Down syndrome
Developmental delay
Prader-Willi Syndrome (PWS)
Fetal alcohol spectrum disorder (FASD)

Question 20

What is Prader-Willi Syndrome (PWS)?

Answer 20

Prader-Willi syndrome is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural challenges. It’s usually noticed shortly after birth.

Question 21

What are the symptoms of Prader-Willi syndrome?

Answer 21

• An excessive appetite and overeating, which can easily lead to dangerous weight gain
• Restricted growth (children are much shorter than average)
• Floppiness caused by weak muscles (hypotonia)
• Learning difficulties - mild
• Lack of sexual development
• Behavioural challenges, such as emotional outbursts and physical aggression
• Obsessive behaviour - can make you develop mood problems.

Can also have poor body temperature control, poor muscle tone, difficulty to exercise.

Question 22

What are the causes of Prader-Willi syndrome?

Answer 22

Prader-Willi syndrome is caused by some missing genetic material in a group of genes on chromosome number 15.

This leads to a number of problems and is thought to affect part of the brain called the hypothalamus, which produces hormones and regulates growth and appetite.

This may explain some of the typical features of Prader-Willi syndrome, such as delayed growth and persistent hunger.

The genetic cause happens purely by chance, and boys and girls of all ethnic backgrounds can be affected.

It’s extremely rare for parents to have more than 1 child with Prader-Willi syndrome.

Question 23

How do you diagnose Prader-Willi syndrome?

Answer 23

Prader-Willi syndrome can usually be confirmed by carrying out genetic testing.

Genetic testing may be recommended if a child has the symptoms of Prader-Willi syndrome. Babies who are very floppy at birth may also be tested.

Question 24

How do you manage Prader-Willi syndrome?

Answer 24

There’s no cure for Prader-Willi syndrome, so treatment aims to manage the symptoms and associated difficulties.

This includes managing the person’s excessive appetite and behavioural challenges- maintaining a normal weight.

They should have a healthy, balanced diet, avoiding sweet treats and high-calorie items right from the start.

Limiting food intake can be very challenging. People with Prader-Willi syndrome may become frustrated when they want extra food, and their hunger can make them hide or steal food.

Recent study has started replacing growth hormone in early childhood due to growth hormone deficiency - they can now have normal stature.

Question 25

What are the long-term problems caused by Prader-Willi syndrome?

Answer 25

Prader-Willi syndrome itself is not life-threatening. But compulsive eating and weight gain can cause young adults with the syndrome to develop serious obesity-related conditions such as:

Type 2 diabetes
Heart failure
Breathing difficulties

Question 26

What is Fetal alcohol spectrum disorder (FASD)?

Answer 26

FASD can happen when alcohol in the mother’s blood passes to her baby through the placenta.

Your baby cannot process alcohol well, which means it can stay in their body for a long time. Alcohol can damage their brain and body and stop them from developing normally in the womb.

There are evident facial features:
- Thin upper lip
- Smooth philtrum (between the upper lip and nose)
- Flat nasal bridge
- Unturned nose
- Epicanthal folds folds (skin fold of the upper eyelid covering the inner corner of the eye)

Question 27

Characteristics of foetal alcohol spectrum disorder (FASD)?

Answer 27

FASD can cause problems with:

• Movement
• Balance
• Vision and hearing
• Learning such as problems with thinking, concentration, and memory
• Managing emotions and developing social skills
• Hyperactivity and impulse control
• Communication, such as problems with speech
• Problems with the joints, muscles, bones, and organs, such as the kidneys and heart

These problems are permanent, though early treatment and support can help limit their impact on a child’s life.

Question 28

What are the four 4 categories of FASD?

Answer 28

Fetal Alcohol Syndrome (FAS)
Partial FAS (pFAS)
Alcohol Related Neurodevelopmental Disorder (ARND)
Alcohol-related Birth Defects (ARBD)

Question 28

How do you diagnose FASD?

Answer 28

Diagnosing FASDs can be hard because there is no medical test, like a blood test, for these conditions. And other disorders, such as ADHD (attention-deficit/hyperactivity disorder) and Williams syndrome, have some symptoms like FAS.

To diagnose FASDs, doctors look for:

Prenatal alcohol exposure; although confirmation is not required to make a diagnosis
Central nervous system problems (e.g., small head size, problems with attention and hyperactivity, poor coordination)
Lower-than-average height, weight, or both
Abnormal facial features (e.g., smooth ridge between nose and upper lip)

Question 29

Treatment for FASD?

Answer 29

FASDs last a lifetime. There is no cure for FASDs, but research shows that early intervention treatment services can improve a child’s development.

There are many types of treatment options, including medication to help with some symptoms, behavior and education therapy, parent training, and other alternative approaches. No one treatment is right for every child. Good treatment plans will include close monitoring, follow-ups, and changes as needed along the way.

Also, “protective factors” can help reduce the effects of FASDs and help people with these conditions reach their full potential.

Protective factors include:
- Diagnosis before 6 years of age
- Loving, nurturing, and stable home environment during the school years
- Absence of violence
- Involvement in special education and social services

Question 30

What is Down syndrome?

Answer 30

Down’s syndrome (also known as Down syndrome) is a genetic chromosome problem. Someone with Down’s syndrome has an extra copy of chromosome 21 in the cells of their body.

This causes the typical features of the condition. All people with Down’s syndrome have some degree of learning disability. They are also at increased risk of having various other medical problems. Down’s syndrome may be detected before birth (prenatally) or after birth (postnatally).

Question 31

What are the features of Down’s syndrome?

Answer 31

Typical facial features:
- An oval-shaped face.
- Eyes that slant upwards and have an extra skin fold on the upper eyelid, known as an epicanthal fold. This skin fold covers the inner corner of their eye next to their nose.
- A small mouth and a tongue that often protrudes.
- The back of their head (called the occiput) is often flatter than normal.
- Their nose may be small and have a flat and low bridge.
- Ears may also be small and low-set.

Other outward physical features:
- A single crease across the palm of the hand (single palmar crease).
- Short fingers and a little finger that can curve inwards.
- Joints that seem ‘looser’ than normal.
- A bigger than normal space between the first and second toe (the ‘sandal gap’).
- Muscles that lack tone and can be quite floppy (this is often most noticeable in babies).
- Babies may have a low birth weight.

Question 32

What are the mental development issues with Down’s Syndrome?

Answer 32

Everyone with Down’s syndrome will have some degree of learning difficulty. However, the level varies from person to person and some are more severely affected than others.

Delayed speech development and delay in motor development (sitting, crawling, walking, potty training, etc) can occur.

Feeding difficulties are also very common for children with Down’s syndrome.

Question 33

What are the physical issues with Down’s Syndrome?

Answer 33

Heart defects is the main problem.

Around half of babies with Down’s syndrome will have a congenital heart defect (that is, a heart problem that they are born with). The most common problem is an atrioventricular septal defect (AVSD). This is a hole in the muscle that usually separates the different chambers in the heart. There can also be problems with the valves in their heart. If someone has an AVSD, it means that the blood flow around their heart becomes abnormal.

An AVSD can usually be fully corrected with surgery if it is detected early. Therefore, all babies with Down’s syndrome should have a thorough examination of their heart shortly after they are born. If there is any suspicion of a heart problem, doctors will usually refer the baby for an ultrasound scan of their heart, called an echocardiogram. Other heart problems can sometimes develop later in life in those with Down’s syndrome. Therefore, a regular check-up of the heart is needed.

Question 34

Additional problems experienced when you have Down’s Syndrome?

Answer 34

• Vision problems including short-sightedness, long-sightedness and abnormal alignment of the eyes (squint).
• Ear infections and hearing problems. It is important that hearing problems be detected and treated, as they can affect a child’s ability to learn.
• Growth, teeth and bone development may all be affected.
• Leukaemia is more common than average in children with Down’s syndrome. This is a type of cancer that affects the white blood cells that usually fight infection.
• Obesity can often develop during adolescence.
• Frequent infections such as coughs, colds and eye infections are common in people with Down’s syndrome. They may be due to problems with immune system development.
• Thyroid problems including an underactive thyroid gland.
• Diabetes.
• Premature ageing can occur leading to the formation of cataracts and age-related hearing problems. Early-onset dementia can occur. People with Down’s syndrome don’t have an increased risk of developing dementia; its just that if they do develop dementia, it tends to develop 20 to 30 years earlier than it normally would.
• Fertility is usually reduced in someone with Down’s syndrome.

Question 35

How is Down’s syndrome diagnosed prenatal?

Answer 35

Screening tests for Down’s syndrome usually involve a blood test and a special ultrasound scan called a nuchal translucency ultrasound scan. This scan is carried out in a similar way to other ultrasound scans that you will have during pregnancy. However, it focuses on measuring the thickness of fluid that collects behind your baby’s neck while they are developing in your womb. It is normal for all babies to collect some fluid here but babies with Down’s syndrome tend to collect more fluid than normal.

It is important to understand that these screening tests do not give a definitive answer as to whether your baby does have Down’s syndrome - they just give a risk. If this risk is deemed to be high, a diagnostic test can be done prenatally to determine if a developing baby actually does have Down’s syndrome or not.

There are two main prenatal diagnostic tests that can be done: amniocentesis and chorionic villus sampling. However, these diagnostic tests do carry a small risk of miscarriage.

Question 36

How is Down’s syndrome diagnosed postnatal?

Answer 36

Down’s syndrome may be suspected shortly after birth because of the typical features that a baby with Down’s syndrome has. Diagnosis is confirmed by genetic tests to look at the karyotype of your baby. This is essentially their genetic make-up. It involves your baby having a blood test. The chromosomes in their blood can then be examined to look for an extra chromosome 21.

Question 37

What is the treatment for Down’s syndrome?

Answer 37

There is no treatment that can cure Down’s syndrome. Treatment is aimed at monitoring for any complications and treating these where possible. Most of the complications associated with Down’s syndrome are treatable. With treatment and support, someone with Down’s syndrome can lead a very active life.

Early intervention programmes from birth are important for a baby born with Down’s syndrome. Such programmes can include speech and language therapy, physiotherapy, etc. They can help with the learning and development of a child with Down’s syndrome. The earlier that such help and care are given for any problems, the better the long-term outcome is likely to be and the more likely that person is to reach their full potential.

Someone with Down’s syndrome will need regular medical follow-up. In babies and children it is important to monitor their growth and development. When their teeth develop, they will also need regular dental checks. Monitoring for heart problems, hearing problems and eye problems is also important. A healthy, balanced diet is needed and exercise should be encouraged to reduce the risk of weight gain and obesity.

Question 38

What is Fragile X syndrome?

Answer 38

Fragile X syndrome (FXS) is a genetic disorder. FXS is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1). FMR1 usually makes a protein called FMRP that is needed for brain development. People who have FXS do not make this protein. Those with fragile X-associated disorders have changes in the FMR1 gene, but usually still make some of the protein.

FXS affects both males and females. However, females often have milder symptoms than males.

Question 39

What are the signs and symptoms of Fragile X syndrome?

Answer 39

• Developmental delays (not sitting, walking, or talking at the same time as other children the same age);
• Learning disabilities (trouble learning new skills); and
• Social and behavior problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active).

Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability. Autism spectrum disorder (ASD) also occur more frequently in people with FXS.

Question 40

How do you test/diagnose for Fragile X syndrome?

Answer 40

FXS can be diagnosed by testing a person’s DNA from a blood test. A doctor or genetic counselor can order the test. Testing also can be done to find changes in the FMR1 gene that can lead to fragile X-associated disorders.

A diagnosis of FXS can be helpful to the family because it can provide a reason for a child’s intellectual disabilities and behavior problems. This allows the family and other caregivers to learn more about the disorder and manage care so that the child can reach his or her full potential. However, the results of DNA tests can affect other family members and raise many issues. So, anyone who is thinking about FXS testing should consider having genetic counseling prior to getting tested.

Question 41

What is the treatment for Fragile X syndrome?

Answer 41

There is no cure for FXS. However, treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems. To develop the best treatment plan, people with FXS, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members.

Question 42

Learning Disability General: How common is Mild ID

Answer 42

Mild disability accounts for 85% of all intellectual disability cases. This may not be apparent until the child is of school age, and has difficulty meeting educational demands.

Question 43

Learning Disability General: How common is Moderate ID

Answer 43

Moderate disability occurs in apx. 10% of individuals diagnosed with intellectual disability. These individuals develop communication skills during early childhood slightly later than those with Mild ID. These individuals can be trained to preform unskilled work under close supervision.

Question 44

Learning Disability General: How common is sever ID

Answer 44

Severe disability occurs in apx. 3 - 4% of individuals diagnosed with intellectual disability.

Communicative speech does not develop during early childhood. Although it may be acquired during school age. These individuals can learn basic self care but need more supervision.

Question 45

Learning Disability General: How common is profound ID

Answer 45

Profound disability occurs in apx. 1 - 2% of individuals diagnosed with intellectual disability.

Communication and motor skills are significantly impaired. These individuals need constant supervision.

Question 46

How can you distinguish children with mild intellectual disability from children without during infancy.

Answer 46

Infants lack of age appropriate interests in the environment.
Delays in motor functioning
Reduced eye contact during feeding.
Less ready to interact with their parents or stimuli

Question 47

Types of Psychological Tests for Intellectual Disabilities?

Answer 47

Wechsler Intelligence Scale for Children (WISC)
Wechsler Preschool and Primary Scale of Intelligence
Wechsler Adult Intelligence Scale (WAIS)
Stanford-Binet Intelligence Scale

Question 48

What is Wechsler Intelligence Scale for Children (WISC)?

Answer 48

This is an IQ test for children ages 6 to 16. The test has several subtests. The subtests provide insight into two distinct areas of intelligence. These are verbal skills and spatial (performance) skills.

The verbal tests include: vocabulary, similarities, comprehension, math, and informational knowledge.

The performance tests include: picture completion and arrangement; block design; object assembly; and coding.

Question 49

What is Wechsler Preschool and Primary Scale of Intelligence?

Answer 49

This is an IQ test for children 3 to 7 years old. This test is organized like the WISC (see above). It measures two key aspects of intelligence: verbal skills and spatial (performance) skills. It has multiple subtests measuring different aspects of each major area.

This test is not appropriate for individuals with severe intellectual disability.

Question 50

What is Wechsler Adult Intelligence Scale (WAIS)?

Answer 50

This is an IQ test for people over sixteen years of age. This test is similar to the WISC (see above). However, the questions are more difficult since it tests adults.

Like the WISC, it is comprised of multiple subtests. These subtests measure different aspects of the two major areas of intelligence.

Question 51

What is Stanford-Binet Intelligence Scale?

Answer 51

This is an IQ test for people between 2 to 23 years of age. There are fifteen subtests for older groups. Six subtests are administered to all age groups. These are vocabulary, comprehension, pattern analysis, quantitative, bead memory, and memory for sentences.