Intellectual Disability and Chromosomal Abnormalities Clinical Science III Karen R. Voogt, DPT Fall 2011
Intellectual disability  <ul><li>Preferred over Mental Retardation </li></ul>
Mental Retardation <ul><li>DSM IV: </li></ul><ul><li>A generalized disorder characterized by significantly impaired cognit...
DSM IV Mental Retardation <ul><li>317.0 Mild mental retardation </li></ul><ul><li>318.0 Moderate mental retardation </li><...
Mild MR <ul><li>Mild mental retardation  </li></ul><ul><li>Approximately 85% of the mentally retarded population is in the...
Moderate MR <ul><li>Moderate mental retardation  </li></ul><ul><li>About 10% of the mentally retarded population is consid...
Severe MR <ul><li>Severe mental retardation  </li></ul><ul><li>About 3–4% of the mentally retarded population is severely ...
Profound MR <ul><li>Profound mental retardation  </li></ul><ul><li>Only 1–2% of the mentally retarded population is classi...
Causes of Intellectual Disability <ul><li>Prenatal </li></ul><ul><li>Perinatal </li></ul><ul><li>Postnatal </li></ul>
Causes of Intellectual Disability: <ul><li>The three most common causes of intellectual disability, accounting for about 3...
Intellectual Disability <ul><li>Prenatal </li></ul><ul><ul><li>Developmental disorders of brain formation (hydrocephalus) ...
Intellectual Disability <ul><li>Perinatal </li></ul><ul><ul><li>Prematurity (intracranial hemorrhage) </li></ul></ul><ul><...
Intellectual Disability <ul><li>Majority of cases (especially mild to moderate)-cause unidentifiable </li></ul><ul><li>Det...
I.Q. <ul><li>Profound </li></ul><ul><li>Severe </li></ul><ul><li>Moderate </li></ul><ul><li>Mild </li></ul><ul><li>Borderl...
Prevalence <ul><li>Mental Retardation  </li></ul><ul><ul><li>7.8 per 1,000 </li></ul></ul><ul><li>Development Disabilities...
Movement Impairments in Children with Cognitive Impairments <ul><li>Basis is CNS pathology including: </li></ul><ul><ul><l...
Fragile X Syndrome <ul><li>X-linked dominant disorder </li></ul><ul><li>Most common type of inherited cognitive impairment...
Fragile X
CHROMOSOMAL ABNORMALITIES <ul><li>Cell Division:  </li></ul><ul><ul><li>Problems with separation </li></ul></ul><ul><ul><u...
DOWN SYNDROME <ul><li>INCIDENCE </li></ul><ul><ul><li>1:700 newborns </li></ul></ul><ul><ul><li>> in mothers over age 35 <...
Down Syndrome <ul><li>Majority (95%) - trisomy 21 </li></ul><ul><ul><li>47 instead of 46 chromosomes </li></ul></ul><ul><u...
Prenatal Diagnosis <ul><li>Triple screen btw 15.5-20 wks gestation </li></ul><ul><li>Quadruple screen 11-13 wks </li></ul>...
Phenotypic Features in Down Syndrome <ul><li>Flattened nasal bridges </li></ul><ul><li>Eye shape </li></ul><ul><li>Flat fa...
Phenotypic Features in Down Syndrome (Cont’d) <ul><li>Cardiovascular: </li></ul><ul><ul><li>Ventricular septal defect </li...
Phenotypic Features in Down Syndrome (Cont’d) <ul><li>Neurological </li></ul><ul><ul><li>Overall reduced brain weight </li...
Phenotypic Features in Down Syndrome (Cont’d) <ul><li>Other </li></ul><ul><ul><li>Retarded sexual development </li></ul></...
 
TRISOMY 18 <ul><li>Incidence 1:6,000 births </li></ul><ul><ul><li>males to females  1:3 </li></ul></ul><ul><li>Mean matern...
CHARACTERISTICS <ul><li>Pre and post natal growth retardation </li></ul><ul><li>Hypotonic at birth </li></ul><ul><li>Hyper...
Trisomy 18 <ul><li>90% Typically die in infancy </li></ul><ul><li>Survivors: </li></ul><ul><ul><li>developmental delay </l...
TRISOMY 13 <ul><li>Incidence </li></ul><ul><ul><li>1:5,000 births </li></ul></ul><ul><ul><li>60% are female </li></ul></ul...
Trisomy 13-Characteristics <ul><li>Pre and post natal growth deficiency </li></ul><ul><li>arrhinencephaly </li></ul><ul><l...
Trisomy 13-Characteristics <ul><li>Polydactyly or syndactyly </li></ul><ul><li>Congenital heart disease </li></ul><ul><li>...
Trisomy 13-Characteristics <ul><li>Death usually in infancy or by 2nd year of life </li></ul><ul><li>95% Spontaneous abort...
Trisomy 13
Upcoming SlideShare
Loading in...5
×

Odu%20 clinical%20science%20iii%20intellectual%20disability%20and%20trisomies%202011[1]

549

Published on

Published in: Health & Medicine
0 Comments
0 Likes
Statistics
Notes
  • Be the first to comment

  • Be the first to like this

No Downloads
Views
Total Views
549
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
30
Comments
0
Likes
0
Embeds 0
No embeds

No notes for slide

Odu%20 clinical%20science%20iii%20intellectual%20disability%20and%20trisomies%202011[1]

  1. 1. Intellectual Disability and Chromosomal Abnormalities Clinical Science III Karen R. Voogt, DPT Fall 2011
  2. 2. Intellectual disability <ul><li>Preferred over Mental Retardation </li></ul>
  3. 3. Mental Retardation <ul><li>DSM IV: </li></ul><ul><li>A generalized disorder characterized by significantly impaired cognitive functioning and deficits in 2 or more adaptive behaviors with onset before age 18. </li></ul><ul><li>Communication, self help, interpersonal skills, daily living. </li></ul>
  4. 4. DSM IV Mental Retardation <ul><li>317.0 Mild mental retardation </li></ul><ul><li>318.0 Moderate mental retardation </li></ul><ul><li>318.1 Severe mental retardation </li></ul><ul><li>318.2 Profound mental retardation </li></ul><ul><li>319 Mental retardation, severity unspecified </li></ul>
  5. 5. Mild MR <ul><li>Mild mental retardation </li></ul><ul><li>Approximately 85% of the mentally retarded population is in the mildly retarded category. Their IQ score ranges from 50–70, and they can often acquire academic skills up to about the sixth-grade level. They can become fairly self-sufficient and in some cases live independently, with community and social support. </li></ul>
  6. 6. Moderate MR <ul><li>Moderate mental retardation </li></ul><ul><li>About 10% of the mentally retarded population is considered moderately retarded. Moderately retarded persons have IQ scores ranging from 35–55. They can carry out work and self-care tasks with moderate supervision. They typically acquire communication skills in childhood and are able to live and function successfully within the community in such supervised environments as group homes. </li></ul>
  7. 7. Severe MR <ul><li>Severe mental retardation </li></ul><ul><li>About 3–4% of the mentally retarded population is severely retarded. Severely retarded persons have IQ scores of 20–40. They may master very basic self-care skills and some communication skills. Many severely retarded individuals are able to live in a group home. </li></ul>
  8. 8. Profound MR <ul><li>Profound mental retardation </li></ul><ul><li>Only 1–2% of the mentally retarded population is classified as profoundly retarded. Profoundly retarded individuals have IQ scores under 20–25. They may be able to develop basic self-care and communication skills with appropriate support and training. Their retardation is often caused by an accompanying neurological disorder. Profoundly retarded people need a high level of structure and supervision. </li></ul>
  9. 9. Causes of Intellectual Disability <ul><li>Prenatal </li></ul><ul><li>Perinatal </li></ul><ul><li>Postnatal </li></ul>
  10. 10. Causes of Intellectual Disability: <ul><li>The three most common causes of intellectual disability, accounting for about 30% of cases, are Down syndrome, fragile X, and fetal alcohol syndrome. Males are more likely than females to have MR in a 1.5:1 ratio. </li></ul>
  11. 11. Intellectual Disability <ul><li>Prenatal </li></ul><ul><ul><li>Developmental disorders of brain formation (hydrocephalus) </li></ul></ul><ul><ul><li>Teratogens (alcohol, radiation) </li></ul></ul><ul><ul><li>Infection (STORCH) </li></ul></ul><ul><ul><li>Metabolic Disorders </li></ul></ul><ul><ul><li>Chromosomal abnormalities </li></ul></ul>
  12. 12. Intellectual Disability <ul><li>Perinatal </li></ul><ul><ul><li>Prematurity (intracranial hemorrhage) </li></ul></ul><ul><li>Postnatal </li></ul><ul><ul><li>Infection (meningitis) </li></ul></ul><ul><ul><li>Anoxia (near drowning) </li></ul></ul><ul><ul><li>Trauma (shoulder dystocia, vacuum extraction) </li></ul></ul><ul><ul><li>Degenerative disorders </li></ul></ul><ul><ul><li>Seizure disorders </li></ul></ul><ul><ul><li>Malnutrition/Environmental deprivation </li></ul></ul>
  13. 13. Intellectual Disability <ul><li>Majority of cases (especially mild to moderate)-cause unidentifiable </li></ul><ul><li>Detection </li></ul><ul><ul><li>Performance on cognitive test </li></ul></ul><ul><ul><li>Developmental delay as opposed to MR <9 year old </li></ul></ul>
  14. 14. I.Q. <ul><li>Profound </li></ul><ul><li>Severe </li></ul><ul><li>Moderate </li></ul><ul><li>Mild </li></ul><ul><li>Borderline </li></ul><ul><li>Dull/Normal </li></ul><ul><li>Normal </li></ul><ul><li>High average </li></ul><ul><li>Superior </li></ul><ul><li>Very superior </li></ul><ul><li>< 25 </li></ul><ul><li>25-39 </li></ul><ul><li>40-54 </li></ul><ul><li>55-69 </li></ul><ul><li>70-80 </li></ul><ul><li>81-89 </li></ul><ul><li>90-109 </li></ul><ul><li>110-119 </li></ul><ul><li>120-129 </li></ul><ul><li>130 and ^ </li></ul>
  15. 15. Prevalence <ul><li>Mental Retardation </li></ul><ul><ul><li>7.8 per 1,000 </li></ul></ul><ul><li>Development Disabilities </li></ul><ul><ul><li>11.3 per 1,000 </li></ul></ul><ul><li>Combined MR & DD </li></ul><ul><ul><li>14.9 per 1,000 </li></ul></ul>
  16. 16. Movement Impairments in Children with Cognitive Impairments <ul><li>Basis is CNS pathology including: </li></ul><ul><ul><li>Flexibility </li></ul></ul><ul><ul><li>Force production </li></ul></ul><ul><ul><li>Coordination </li></ul></ul><ul><ul><li>Postural control </li></ul></ul><ul><ul><li>Balance </li></ul></ul><ul><ul><li>Endurance and efficiency </li></ul></ul><ul><ul><li>Cardiopulmonary and musculoskeletal impairments may contribute </li></ul></ul>
  17. 17. Fragile X Syndrome <ul><li>X-linked dominant disorder </li></ul><ul><li>Most common type of inherited cognitive impairment </li></ul><ul><li>Features </li></ul><ul><ul><li>Hypotonia </li></ul></ul><ul><ul><li>Joint hypermobility </li></ul></ul><ul><ul><li>Delayed motor milestones </li></ul></ul><ul><ul><li>Autism spectrum disorder </li></ul></ul><ul><ul><li>Elongated facies, large ears, prominent mandible </li></ul></ul>
  18. 18. Fragile X
  19. 19. CHROMOSOMAL ABNORMALITIES <ul><li>Cell Division: </li></ul><ul><ul><li>Problems with separation </li></ul></ul><ul><ul><ul><li>Deletion </li></ul></ul></ul><ul><ul><ul><li>Translocation </li></ul></ul></ul><ul><ul><ul><li>Nondisjunction </li></ul></ul></ul>
  20. 20. DOWN SYNDROME <ul><li>INCIDENCE </li></ul><ul><ul><li>1:700 newborns </li></ul></ul><ul><ul><li>> in mothers over age 35 </li></ul></ul><ul><ul><ul><li>1:2000 < 30 </li></ul></ul></ul><ul><ul><ul><li>1:50 35-39 </li></ul></ul></ul><ul><ul><ul><li>1:20 > 40 </li></ul></ul></ul><ul><ul><li>5-10% related to advance paternal age </li></ul></ul><ul><li>Lifespan: </li></ul><ul><ul><li>1910, avg. 9 years </li></ul></ul><ul><ul><li>2010, avg. 55 years </li></ul></ul>
  21. 21. Down Syndrome <ul><li>Majority (95%) - trisomy 21 </li></ul><ul><ul><li>47 instead of 46 chromosomes </li></ul></ul><ul><ul><li>Can occur before (faulty meiosis) or after fertilization (mosaicism) </li></ul></ul><ul><li>Small number - translocation (unrelated to maternal age) </li></ul>
  22. 22. Prenatal Diagnosis <ul><li>Triple screen btw 15.5-20 wks gestation </li></ul><ul><li>Quadruple screen 11-13 wks </li></ul><ul><li>Advanced ultrasound: nuchal translucency </li></ul><ul><li>Amniocentesis </li></ul><ul><li>Postnatal </li></ul><ul><ul><li>Begins with physical findings </li></ul></ul>
  23. 23. Phenotypic Features in Down Syndrome <ul><li>Flattened nasal bridges </li></ul><ul><li>Eye shape </li></ul><ul><li>Flat facial profile </li></ul><ul><li>Short limbs </li></ul><ul><li>Simian creases </li></ul><ul><li>Atlanto-axial instability </li></ul><ul><li>Shallow acetabular angle </li></ul>
  24. 24. Phenotypic Features in Down Syndrome (Cont’d) <ul><li>Cardiovascular: </li></ul><ul><ul><li>Ventricular septal defect </li></ul></ul><ul><ul><li>patent ductus arteriosus </li></ul></ul><ul><ul><li>Tetrology of Fallot </li></ul></ul><ul><li>Vision/Hearing </li></ul><ul><ul><li>Myopia </li></ul></ul><ul><ul><li>Nystagmus </li></ul></ul><ul><ul><li>Strabismus </li></ul></ul><ul><ul><li>Hearing loss </li></ul></ul>
  25. 25. Phenotypic Features in Down Syndrome (Cont’d) <ul><li>Neurological </li></ul><ul><ul><li>Overall reduced brain weight </li></ul></ul><ul><ul><ul><li>May have smaller convolutions and other structural abnormalities </li></ul></ul></ul><ul><ul><li>Mild microcephaly </li></ul></ul><ul><ul><li>Hypotonia </li></ul></ul><ul><ul><li>Developmental Delay </li></ul></ul><ul><ul><li>Mental retardation </li></ul></ul><ul><ul><li>Early onset Alzheimer's disease </li></ul></ul>
  26. 26. Phenotypic Features in Down Syndrome (Cont’d) <ul><li>Other </li></ul><ul><ul><li>Retarded sexual development </li></ul></ul><ul><ul><li>Thyroid dysfunction </li></ul></ul><ul><ul><li>Leukemia 20 times more likely </li></ul></ul>
  27. 28. TRISOMY 18 <ul><li>Incidence 1:6,000 births </li></ul><ul><ul><li>males to females 1:3 </li></ul></ul><ul><li>Mean maternal age advanced </li></ul><ul><li>AKA Edwards Syndrome </li></ul><ul><li>2 nd most common trisomy </li></ul><ul><li>90% result in spontaneous abortion </li></ul>
  28. 29. CHARACTERISTICS <ul><li>Pre and post natal growth retardation </li></ul><ul><li>Hypotonic at birth </li></ul><ul><li>Hypertonic as they age </li></ul><ul><li>Congenital heart disease </li></ul><ul><li>Dysmorphic features </li></ul>
  29. 30. Trisomy 18 <ul><li>90% Typically die in infancy </li></ul><ul><li>Survivors: </li></ul><ul><ul><li>developmental delay </li></ul></ul><ul><ul><li>mental retardation </li></ul></ul>
  30. 31. TRISOMY 13 <ul><li>Incidence </li></ul><ul><ul><li>1:5,000 births </li></ul></ul><ul><ul><li>60% are female </li></ul></ul><ul><li>Mean maternal age increased </li></ul><ul><li>AKA Patau Syndrome </li></ul>
  31. 32. Trisomy 13-Characteristics <ul><li>Pre and post natal growth deficiency </li></ul><ul><li>arrhinencephaly </li></ul><ul><li>eye malformations </li></ul><ul><li>cleft lip and palate </li></ul>
  32. 33. Trisomy 13-Characteristics <ul><li>Polydactyly or syndactyly </li></ul><ul><li>Congenital heart disease </li></ul><ul><li>Severe to profound cognitive impairment </li></ul>
  33. 34. Trisomy 13-Characteristics <ul><li>Death usually in infancy or by 2nd year of life </li></ul><ul><li>95% Spontaneous abortion </li></ul><ul><li>TREATMENT </li></ul><ul><ul><li>Supportive </li></ul></ul>
  34. 35. Trisomy 13
  1. A particular slide catching your eye?

    Clipping is a handy way to collect important slides you want to go back to later.

×