Mental Mental Mental Mental RetardationRetardationRetardationRetardation

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Introduction

! History’s influence! Dual Diagnosis

! Etiology! Specific Disorders

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HistoryHistoryHistoryHistory

! Many hindering elements– Death– Persecution

! Religion! Middle Ages

• Led to general lack of concern

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History Cont…History Cont…History Cont…History Cont…

! 1690 John Locke’s “Blank Slate”! 1800s Jean-Marc-Gaspard Itard! 1908 Binet’s IQ test

• Led to better understanding of innate differences

• Gave hope for help

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History’s influence on History’s influence on History’s influence on History’s influence on DiagnosisDiagnosisDiagnosisDiagnosis

! 1900s: general knowledge about mental retardation widespread:– “Onset in childhood, significant intellectual or

cognitive limitations and inability to adapt to the demands of everyday life”

! But diagnostic criteria vague

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Developing Diagnostic Developing Diagnostic Developing Diagnostic Developing Diagnostic CriteriaCriteriaCriteriaCriteria

! 1910: American Association on Mental Deficiency (AAMR) defined according to functional level– Idiot: 2 year old– Imbecile: 2-7 year old– Moron: 7-12 year old

! Obvious problems

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Dev. Diagnostics Cont…Dev. Diagnostics Cont…Dev. Diagnostics Cont…Dev. Diagnostics Cont…

! Revisions based on IQ– Overlaps cause overestimation

! New IQ levels established– Mild:50-70– Moderate:35-50– Severe:20-35– Profound:<20

• STILL too vague

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Current Diagnostic CriteriaCurrent Diagnostic CriteriaCurrent Diagnostic CriteriaCurrent Diagnostic Criteria

! Multidimensional approach (DSM-IV, ICD10)– Limits in present functioning– Sub-average IQ– 2 or more:

• Communication, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work

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Dual DiagnosisDual DiagnosisDual DiagnosisDual Diagnosis

! Theory that mental retardation exists in conjunction with psychopathologies.– Psychopathologies are not innate

qualities, rather they are developed

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! The slow development of diagnostic criteria hindered research for centuries

! New approaches and techniques!!– Etiological approaches– Genetic and biological findings related to

behavior• biopsychosocial

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EtiologyEtiologyEtiologyEtiology

! 2 Types:– Idopathic: non-specific: no apparent

cause– Organic: specific

• Pre-natal: chromosome abnormality• Peri-natal: hypoxia, apoxia• Post-natal: brain injury

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Etiology Cont…Etiology Cont…Etiology Cont…Etiology Cont…

! Most retardation is mild! Most cases of mild retardation are

combinations of peri- and post-natal causes

! 20-30% of pre-natal causes lead to severe retardation

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HeredityHeredityHeredityHeredity

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PrePrePrePre----Natal RetardationNatal RetardationNatal RetardationNatal Retardation

! Specific genetic effects that cause! Breakthrough research

– Genetics and psychology coupled with biology

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WilliWilliWilliWilli----Prader Prader Prader Prader and and and and AngelmanAngelmanAngelmanAngelman

! Both chromosome 15– WP=paternal, affects mRNA processing– AS=maternal, affects ubiquitin ligase

gene that is crucial in development

! Both syndromes from same location! Very different behavioral

characteristics

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Cont…characteristicsCont…characteristicsCont…characteristicsCont…characteristics

! Willi-Prader Syndrome– Hyperphagia and impaired satiety

response • Leads to food-stealing and seeking

– OCD (similar to non-retarded)– Behaviors: tantrums, out bursts,

impulsivity, argumentativeness, sadness, withdrawal, and peer problems*• Due to disorder?? Or part of it?

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Cont… CharacteristicsCont… CharacteristicsCont… CharacteristicsCont… Characteristics

! Angelman Syndrome– Moderate retardation, abnormal gait,

speech impairment, seizures, and inappropriate happy demeanor*

– Needs further study

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ImplicationsImplicationsImplicationsImplications

! Good Willi’s biological start! Some good psychological correlations! Research needed to find biological

abnormalities related to behaviors! And also specifying differences in

maternal and paternal etiology

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William’s SyndromeWilliam’s SyndromeWilliam’s SyndromeWilliam’s Syndrome

! Chromosome 7: next to elastin gene, connective tissue disorder

! Anxiety disorders unrelated to age or gender– Environment? Or genetic?

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Cont…characteristicsCont…characteristicsCont…characteristicsCont…characteristics

! Behavior: Inattention, hyperactivity, ADHD, impulsivity, and social dis-inhibition

! Language>visial-spatial, visual-motor, construction tasks, or figure copying

! Strengths: memorizing and recognizing faces, auditory short-term memory, and musical talents

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ImplicationsImplicationsImplicationsImplications

! Good advocate for dual diagnosis! Need research on biological aspects

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Fragile XFragile XFragile XFragile X

! Expanded triplet repeat– 200+ CGGs

! Inactive FMR1 gene (lack gene product FMR1P)– Essential for pre- and post-natal

development– Regulates proteins for synaptic activity

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TransmissionTransmissionTransmissionTransmission

! Repeats increase each generation until the X Chromosome becomes ‘fragile’ at a critical region when examined by scientists.

! Not hereditary, chromosome abnormality

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Three TypesThree TypesThree TypesThree Types

! Males with full mutations– Mild to moderate IQ, intact verbal abilities– Struggle with short-term memory, audio,

verbal, and perceptual tasks! Mosaic Males (partial FMR1P)

– Higher IQ, moderate symptoms! Females

– Least symptoms (X-inactivation)

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BiologicalBiologicalBiologicalBiological

! Studies have found:– Enlarged caudate nucleus

• Inhibition, motor activity, and environmental responses

– Decreased cerebellar vermis size in males• Inattention, hyperactivity, hypersensivity to

stimuli

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ImplicationsImplicationsImplicationsImplications

! Since the discovery in 1991, enormous amounts of research has linked:– FMR gene with FMR1P production– FMR1P effect on symptoms– Biological abnormalities that account for

symptoms! Pioneering research must continue

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ConclusionConclusionConclusionConclusion

! Fears:– Eugenics– Prejudice

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Conclusions Cont…Conclusions Cont…Conclusions Cont…Conclusions Cont…

! Research techniques incorporate 3 important fields:– Biology– Psychology– Genetics

• Non-invasive way to research

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!

Biasini, Fred,Lisa Grupe, Lisa Huffman, Norman Bray.“Mental Retardation: A Symptom and a Syndrome”. (To appear in S.Netherton, D. Holmes, & C. E. Walker, (Eds.), Comprehensive Textbook of Child and Adolescent Disorders. New York: Oxford University Press, in press) (found at http://www.uab.edu/cogdev/mentreta.htm)

! Plomin, Defries, McClearn, and McGuffin. Behavioral Genetics, Fourth Edition. Worth Publishers, NY: 2001.

! MERCK MANUAL http://www.merck.com/mrkshared/mmanual_home/sec23/255.jsp: 3/22/03

! ERIC Digests http://www.ericfacility.net/ericdigests/ed372593.html: 3/22/03

! Elisabeth Dykens and Robert Hodapp. “Research in Mental Retardation: Toward an Etiological Approach,” Journal of ChildPsychol. Psychiat. Vol. 42, No. 1 pp. 49-71. Cambridge University Press: 2001.

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