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Mental Retardation

Mental Retardation
First, need to know a basic understanding of normal

Distribution of IQ

Distribution of IQ

Proportion of scores

Mean = 100 sd = 15 Many studies of genetic origins of low IQ, but not high IQ

68.26%

0.13%

95.44% 0.13% 2.14% 13.59% 34.13% 34.13%13.59% 2.14%

IQ score

50
PKU RS DS WS

70
FRX LNS

85

100

115

130

145

DMD XYY NF1 XO XXX, XXY AS, PWS

>200 >150 "Super Genius Genius"

+4 IGF2 promotor PM

Mental Retardation
An individual is considered to have mental retardation based on the following criteria: Sub-average IQ (less than 70-75) Deficits in at least two areas of adaptive skills: communication, self-care, social skills, academics, leisure, health, and safety. Onset before the age of 18

Mental Retardation
Mental Retardation (MR) is defined by the American Association on Mental Retardation (AAMR) by the following three criteria:

1. intellectual functioning level (IQ) is below 70-75 2. significant limitations exist in two or more adaptive skill areas; and the condition manifests before the age of 18. 3. Adaptive skill areas are those daily living skills needed to live, work, and play in the community. The new definition includes ten adaptive skills: communication, self-care, home living, social skills, leisure, health and safety, self-direction, functional academics, community use, and work.

Terminology
OLD=retard, idiot, stupid, moron OLD=6 hour retardate What terminology is used today?
Individual w/ MR, cognitive delays, developmental delays

MR is NOT a mental illness!


Ex. depression, schizophrenia

Not a disease in itself, result of a disease

What is retardation?
DSM Criteria
IQ of 70 or below (Normal mean = 100, SD = 15, so 2 SD) Deficits or impairments in present adaptive functioning in at least two of the following: Communication Self Care Home Living Social/ Interpersonal Skills Community Resources Self-Direction Functional Academic Skills Work, Leisure, Health, and Safety

Onset before the age of 18 **arrested development**

What is retardation?
Differential Diagnosis:
Learning Disorders or Communication Disorders Dementia Pervasive developmental disorders

Presentation of Mental Retardation


The symptoms and signs of MR include: Behavioral disturbances Language delay Fine-motor and gross motor delay Neurological and physical abnormalities Children with MR also have visual and hearing impairments

Presentation in Mental Retardation


Mental Retardation
Diminished intellectual strength Less developed motor skills Better social and communication skills in relation to overall developmental levels Synonymous with global delay

MR
Mild Moderate Severe Profound 70-55 IQ 55-40 40-25 25 & below

MILD
Cognitive standpoint:
6th grade level; can perform vocational-job related skills

Affective
Acceptable social skills: able to communicate, acquire jobs, marry

Psychomotor
Delayed motor skills Often obesity issues because of sedentary lifestyle

Severity of Retardation
Mild Retardation: 85% of MR, IQ 50-55 to 70
develop social and communication skills in preschool years often not distinguishable from children without retardation until later age only acquire academic skills up to approximately 6th grade level

as adults- maintain unskilled jobs may need social and financial assistance

MODERATE
Cognitive
2nd grade educational abilities

Affective
Not as independent as mild; needs assistance

Psychomotor
Obesity; greater motor delays

Severity of Retardation
Moderate Retardation: 10% of MR, IQ 35-40 to 50-55
acquire communication skills in later childhood years unlikely to progress beyond 2nd grade level

difficulties recognizing social conventions and may interfere with


pure relationships

needs to be supervised

SEVERE & PROFOUND


Cognitive
Learn some (not a lot) fundamental motor skills, lack ability to attend to obvious stimuli, very dependent upon others/lack self-help skills, most cases non-verbal

Affective
Lack play skills-dont get the notion

Psychomotor
Retention of primitive reflexes; severe motor delays

Severity of Retardation
Severe Retardation: 3-4% of MR, IQ 20-25 to 35-40
little or no communicative speech function on an elementary level in both speech and self care physical abnormalities need constant supervision

Profound Retardation: 1-2% of MR, IQ below 20-25


neurological condition accounts for MR motor development, self care and communication skills may improve if appropriate instruction is provided but most can only perform simple tasks when heavily supervised

MR and Mothers Age


16-20 21-25 26-30 31-35 36-44 45-up = = = = = = 1 in 2,000 1 in 1,500 1 in 1,000 1 in 750 1 in 37 1 in 12

Just because it isnt heritable doesnt mean it isnt genetic!

Etiology of Mental Retardation


Mental retardation can be caused by any condition which impairs the development of the brain before birth, during birth or in the childhood years. The major causes include:

Genetic conditions: Downs syndrome, Fragile X-syndrome, and Tuberous sclerosis Problems during pregnancy: Fetal alcohol syndrome and smoking Problems during birth: Pre-maturity and low birth weight Problems after birth: Viruses such as chicken pox, measles, and meningitis

Prenatal (Before Birth) factors that may result in MR


Chromosomal Prenatal influences Maternal disease Blood incompatibility-Rh factor Maternal care

Perinatal (At birth)


Prematurity/post maturity Low birth weight Difficult labor & delivery

Causes
Hundreds of causes identified, although onethird of cases unknown Most involve a disruption of gene, or gene expression (i.e, genomic), but may or may not be heritable or familial

Most common: Fetal Alcohol Syndrome Downs Syndrome (Trisomy 21) Fragile X Syndrome

Etiology of Mental Retardation


At least 1.5 million in the US have MR Genetics SES Cultural deprivation Diet Drugs (Alcohol) Parity Mothers Age Prenatal factors

Genetic forms: chromosomal abnormalities


Chromosomal Abnormalities mostly spontaneous Downs Syndrome (1 in 1,000) Trisomy 21 Most develop Alzheimers & lethal WS Williams Syndrome (1 in 25,000) - Chr 7 LimK XXX Triple X Syndrome (1 in 1,000 F) XXY XXY Male Syndrome (1 in 750 M) AS Angelman Syndrome (1 in 25,000) from mother 15q11, UBE3A, GABR3 affected PWS Prader-Willi Syndrome (1 in 15,000) from father same locus as AS, but SNRPN gene affected XYY XYY Syndrome (1 in 1,000 M) XO Turners syndrome (1 in 2,500 F) DS

Genetic forms: single-gene mutations


Single gene mutations
PKU Phenylketonuria (1 in 10,000) many mutations in PAH gene for phenylalanine hydoxylase *diet* RS Rett Syndrome (1 in 10,000 F, lethal in M) MECP2, methyl-CpG-binding protein-2 FRX Fragile X Syndrome (1 in 1,250 M, 1 in 2500 F) FMR1 expanding triplet repeat LNS Lesch-Nyhan Syndrome (1 in 20,000 M) HPRT1, hypoxanthine phosphoribosyltransferase DMD Duchenne Muscular Dystrophy (1 in 3,500 M) huge DMD gene produces dystrophin doesnt affect mice NF1 Neurofibromatosis (1 in 3,000 births) huge NF1 gene

Leading Causes of MR
1. Fetal Alcohol Syndrome-leading cause
5 in 10,000 births Cause by drinking while pregnant ONLY cause of MR that is preventable

Attributes
Small brain (microcephaly) Growth deficiencies Behavior problems Heart murmurs

All these may impact how they perform physical activity

Leading Causes of MR
Fragile X Syndrome
Chromosomal anomaly-inherited Males more than females
Approximately 95% of those with full mutation have MR Approx. 50% of females affected have MR

Most commonly occurring inherited cause of MR

Fragile X Syndrome
Single gene mutation located on the X chromosome. Since both males (XY) and females (XX) each have at least one X chromosome, both can be carriers or have the syndrome. If a father is a carrier, he can only pass the gene defect to his daughters, since he transmits a Y chromosome to his sons. If a mother is the carrier, she can pass the gene defect to either sons or daughters, since she contributes an X chromosome to each.
Children of carrier mothers have a 50% chance of inheriting the gene, since the mother has two Xs to give and only one is affected.

Fragile X Syndrome
Attributes
Males (more severely affected than females) problems with social skills, developmental delays, cognitive and communication skills are most affected. Lack of eye contact is frequently observed. Females (more mild impairments)
Females have 2 Xs, but in each cell only one becomes activated (random) One-third with full mutation will have normal development, onethird will exhibit learning disabilities and one-third will have mental retardation.

Down Syndrome
John Langdon Down- clinically identified the condition in 1866. Caused by extra genes in the 21st chromosome.

Down Syndrome
The extra genes cause certain characteristics that we know as Down syndrome. Individuals with Down Syndrome also have all the other genes given to them by their parents. As a result, they have a combination of features typical of Down Syndrome on top of the individual features from their parents. Some of the physical traits that are common but not always present are almond eyes, flattened bridge of the nose, a single palmar crease and hyperflexibility.

Down Syndrome
A recent estimate in the United States puts the incidence at about 1 in 1,000. There is no association between Down Syndrome and any given culture, ethnic group, socioeconomic status or geographic region. In the usual circumstance, the chances depend upon the age of the mother.
The odds of having a child with Down Syndrome at age 35 are approximately 1 in 350. Under age 25, the odds are about 1 in 1400 At age 40 the odds are about 1 in 100.

Trisomy 21
About 95% of people with Down Syndrome have Trisomy 21 In Trisomy 21, the twenty-first chromosome pair does not split and a double-dose goes to the egg (or sperm). It is estimated that 95-97% of the extra chromosome is of maternal origin.

Translocation
Occurs in about 3-4% of people with Down Syndrome. An extra part of the twenty-first chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra twenty-first chromosome material in a "balanced", or hidden, form.

Mosaicsm
The person with Down Syndrome has an extra twenty-first chromosome in only some of the cells but not all of them. The other cells have the usual pair of twenty-first chromosomes. One to 2 percent of people with Down Syndrome have this type.

Down Syndrome
Motor Development
2-3 years until they walk (unless early intervention)

Balance
1-2 years delayed/awkward gait

Often have vision problems=glasses Congenital heart disease-cant take heart rate too high Obesity as they get older
Lack of exercise Dont know when to stop eating/dont know the feeling of fullness

Upper respiratory infections-have colds A LOT (more often than not)

Atlantoaxial Instability
Too much mobility between C1 & C2 vertebrate Possible serious injury if neck is forcibly flexed REMEMBER THE NECK THING! Physician does x-rays from side and front; done at ages 3, 12 & 18 (development stages)
While neck is neutral, flexed and extended

Atlantoaxial Instability
Restricted activities
Gymnastics Diving High jump Soccer

Exercises involving pressure placed on neck muscles Be safe rather than sorry!

Treatments:
Mental Retardation Medical treatment: special educators, language therapists, behavioral therapists, occupational therapists No specific drug to treat cognitive deficiency, but can be prescribed for specific comorbid psychiatric disease or behavioral disturbances

Treatments:
Mental Retardation Diet: Nutritional supplements not proven to treat

TEACHING TIPS
Provide frequent feedback to the individual. Provide short and clear instructions. Repeat directions. Have the individual demonstrate the task for clear understanding. Keep the learning environment consistent with little change. Eliminate distractions (visual and auditory). Demonstrate tasks for visual understanding. Use peers as partners for the individual with MR. Slow down the speed of the activity especially if it is concerning a noncompetitive activity

Teaching PE to MR
Tendency for obesity=sedentary lifestyle Use weight machines instead of free weights=safety! Stability Jogging/walking-needs supervision/know target heart rate/max heart rate Dont be afraid to modify! Adapt activities to eliminate gravity Monitor progress

Teaching Motor Skills


Use peer involvement! Start simple and move to complex Use motivating targets Use music! Tell stories

Teaching Strategies for students with more severe levels of MR


Use visual stimulation: bright colors, flashlights, mirrors, etc Use tactile stimulation Grasping/releasing

Conclusions
Multiple causes of retardation suggest that intelligence is complex >> easy to disrupt genetically or during development
With few exceptions most forms of mental retardation involve disruption of genes, but may not be familial or heritable because mutation arises spontaneously Present studies focus on copying mutations in mice and then trying to treat deficits in mice.