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Gurpal

Part II ISQ Club - LD/Genetics

32 posts in this topic

Part II ISQs will be posted twice a week on Monday and Thursday. You are encouraged to post a reply in the thread, stating whether you think an ISQ is true or false and why (eg. a short explanation, with reference to the textbook/clinical paper/web page you used). Please only deal with one ISQ in each post and include the question as the first line of your post.

Some questions are easier than others. Some questions may be phrased incorrectly - feel free to offer alternative questions.

1. The prevalence of moderate to severe mental retardation is 3-4 per 1000

2. Learning disability is overrepresented in homicide offenders

3. XYY are taller than average people

4. XYY phenotype is associated with low IQ

5. XYY occurs more often in families with a history of criminal behaviour

6. Those with XYY are more likely to come from a family with a criminal background

7. Angelman's syndrome is due to paternal deletion in chromosome 15

8. An young adult with Downs Syndrome is likely to have epilepsy

9. Downs syndrome can be suspected if there is hypertonia in the newborn  

10. Huntingtons chorea usually has more than 35 CAG repeats  

11. Parents of children with profound mental retardation are sensitised to bereavement issues

12. CAG repeats are seen in fragile X

13. Fragile X shows prepubertal macroorchidism

14. Fragile X syndrome affected women show more severe mental retardation than affected men

15. 40-70% of cases with tuberous sclerosis have a learning disability

16. Turners syndrome usually causes moderately severe learning difficulties as defined by ICD-10

17. Cardiovelofacial syndrome is caused by a deletion on Chromosome 21q11

18. Williams syndrome is associated with deletion of chromosome 7

19. Genes can influence your choice of environment

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anglemans syndrome due to paternal deletion -false

it is due to maternal

ref oxford textbook

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Thank you webmaster :-*

3. XYY are taller than average people

TRUE (also tend to have nodulocystic acne -  :P)

7. Angelman's syndrome is due to paternal deletion in chromosome 15

Microdeletion maternal 15

8. An young adult with Downs Syndrome is likely to have epilepsy

TRUE (10% compared to 1% in general population, i suppose 'more likely')

9. Downs syndrome can be suspected if there is hypertonia in the newborn  

FALSE hypotonia floppy baby

12. CAG repeats are seen in fragile X

FALSE CGG

13. Fragile X shows prepubertal macroorchidism

TRUE long jaw big testes

14. Fragile X syndrome affected women show more severe mental retardation than affected men

FALSE - mild

17. Cardiovelofacial syndrome is caused by a deletion on Chromosome 21q11

FALSE 22q11

18. Williams syndrome is associated with deletion of chromosome 7  

TRUE

I'm SO SORRY :-[ , have just read next time i will do one post at a time!!!! ;)

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13. Fragile X shows prepubertal macroorchidism

False

It is postpubertal macroorchidism

Ref Seminar series in LD

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1-prevalance of moderate to severe mental retardation is 3-4/1000

true oxford text book

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15. 40-70% of cases with tuberous sclerosis have a learning disability

TRUE - Intellectual abilities are bimodally distributed, with roughly half of cases having normal IQ and half in he learning disabled range - Joinson Psych Med 2003 33:335-344.

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1. The prevalence of moderate to severe mental retardation is 3-4 per 1000 -True for moderate & severe LD ;10-11 per 1000 for mild LD

2. Learning disability is overrepresented in homicide offenders-]False..its true for sexual offences & arson

3. XYY are taller than average people -true..abt 7 ams taller

4. XYY phenotype is associated with low IQ ...true

5. XYY occurs more often in families with a history of criminal behaviour ...F...itz trasferred sporadically

6. Those with XYY are more likely to come from a family with a criminal background ...F..onlyWitkin et al 1976 found an excess of them in Med Security hospitals

7. Angelman's syndrome is due to paternal deletion in chromosome 15-false,its maternal...paternal is true for PWS

8. An young adult with Downs Syndrome is likely to have epilepsy -false...2 peaks for Downs epilepsy...chidlhood & in association with Dementia 9. Downs syndrome can be suspected if there is hypertonia in the newborn   -F...hypotonia

10. Huntingtons chorea usually has more than 35 CAG repeats  ...true...40 to over 100

11. Parents of children with profound mental retardation are sensitised to bereavement issues ...?my guess T

12. CAG repeats are seen in fragile X ..F..CGG13. Fragile X shows prepubertal macroorchidism ...F...starts wtih puberty

14. Fragile X syndrome affected women show more severe mental retardation than affected men ...F..other way round...men are mod-severe

15. 40-70% of cases with tuberous sclerosis have a learning disability..T

16. Turners syndrome usually causes moderately severe learning difficulties as defined by ICD-10  ...F..Have Normal IQ...25% (with mosaicism) have >Normal IQ17. Cardiovelofacial syndrome is caused by a deletion on Chromosome 21q11 ...F ...22q1118. Williams syndrome is associated with deletion of chromosome 7 ...T..microdeletion of long armof Chr7 19. Genes can influence your choice of environment ...?probably true..itz one of those'maybe' statements!

All replies-ref latest CTP..Edinburgh Book

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Hi Curdrice,

Can you expand onyour answer:

Quote:

8. An young adult with Downs Syndrome is likely to have epilepsy -false...2 peaks for Downs epilepsy...chidlhood & in association with Dementia

(does that mean the epilepsy then resolves in between???)

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8. An young adult with Downs Syndrome is likely to have epilepsy

False

In people with Down syndrome the frequency of epilepsy is 5 to 10 per cent. There is an age-related bimodal distribution with about 40 per cent of seizures starting before the age of 1 year and another 40 per cent starting after the third decade

In Down syndrome or trisomy 21 the bimodal distribution of the frequency of epilepsy between young and older ages is interesting. The fact that more than 75 per cent of adults with Down syndrome develop late-onset epilepsy coincident with the onset of the neuropathological abnormalities in the brain compatible to Alzheimer's disease suggests an aetiological role of these abnormalities

Oxford Textbook

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1. The prevalence of moderate to severe mental retardation is 3-4 per 1000 --FALSE

2. Learning disability is overrepresented in homicide offenders --FALSE

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7. Angelman's syndrome is due to paternal deletion in chromosome 15 --FALSE

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1. The prevalence of moderate to severe mental retardation is 3-4 per 1000 --FALSE

Hi josie can you quote your ref, as it is marked as true by someone else further up with ref to oxford

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1. The prevalence of moderate to severe mental retardation is 3-4 per 1000 --FALSE

Hi josie can you quote your ref, as it is marked as true by someone else further up with ref to oxford

It would really help josie96.

TA

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8. An young adult with Downs Syndrome is likely to have epilepsy

False

In people with Down syndrome the frequency of epilepsy is 5 to 10 per cent. There is an age-related bimodal distribution with about 40 per cent of seizures starting before the age of 1 year and another 40 per cent starting after the third decade

In Down syndrome or trisomy 21 the bimodal distribution of the frequency of epilepsy between young and older ages is interesting. The fact that more than 75 per cent of adults with Down syndrome develop late-onset epilepsy coincident with the onset of the neuropathological abnormalities in the brain compatible to Alzheimer's disease suggests an aetiological role of these abnormalities

Oxford Textbook

thx Khuram....realll guudd!

and for the prevalence of moderate LD...PLZ refer CTP like i said earlier....all there in B&W

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1.I think the prevalence of moderate to severe mental retardation is 3-4 per 1000 true AS.......

“A follow-up study by Richardson and Koller of children in Aberdeen at age 22 years, born during 1952 to 1954, and initially studied at age 8 to 10 years, found age-specific prevalence rates of 3.3/1000 at age 8 and 9 years and 2.8/1000 at age 22 years, the drop in rate being almost exclusively due to mortality (12). Our SMR rates for age 14 to 20 years ranged from 2.80/1000 to 4.35/1000, according well with the findings of Richardson and Koller (12). They also underscore that the prevalence of SMR is relatively stable, not only across age but also across time.” Mental Retardation in Teenagers: Prevalence Data From the Niagara Region, Ontario

Elspeth A Bradley, PhD, MB BS, FRCPC, FRCPsych1, Ann Thompson, MSc2,

Susan E Bryson, PhD, C.Psych3 Canadian Journal of psychiatry Sept 2002

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Prevalence in total population

Mild --- 0.9-2.7%

Moderate ,severe,profound--- 0.3-0.4%

Ref emedicine.com

I shall give the textbook ref later

pls correct me if my mathematics is not right

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Prevalence in total population

Mild --- 0.9-2.7%

Moderate ,severe,profound--- 0.3-0.4%

Ref emedicine.com

I shall give the textbook ref later

pls correct me if my mathematics is not right

0.3-0.4 % = 3-4/1000

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Query on Fragile X:

Is the faulty bit on long or short arm (of the X chromosome)??

also the macrogonadism is only post-pubertal - is that right??

Thanks

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Query on Fragile X:

Is the faulty bit on long or short arm (of the X chromosome)??

also the macrogonadism is only post-pubertal - is that right??

Thanks

The faulty bit is on the long arm.

Macroorchidism starts at puberty.

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