Jos Hendriksen Ph.D. Ruben Hendriksen, student

Debby Schrans, MsC.

University Hospital Maastricht

Kempenhaeghe Epilepsy centre & Centre of neurological learning disabilities

EVERY BOY IS UNIQUE

THE AVERAGE BOY WITH DUCHENNE DOES NOT EXIST!

Outline

1. Introduction 2. Intelligence and DMD 3. Specific cognitive deficits 4. Academic achievement 5. What can we do?

Duchenne de Boulogne 1868

Already noticed problems in cognitive functioning;

“The intellect was dull and speech was difficult. The Temporal regions were extremely projecting as in hydrocephalics” Inte

llige

nce

and

DM

D

Review of the reviews In

tellige

nce

and

DM

D

Review of all studies on Intelligence

N=1224 boys: Mean age 12 (range 2-27 years) Full Scale IQ =80 (range 14-134) Verbal IQ =80 (range 39-144) Performance IQ =85 (range 42-136)

Conclusion: mild impairment; scores around an average of 80

Inte

llige

nce

and

DM

D

Intelligence and age In

tellige

nce

and

DM

D

Association between IQ and age

VIQ improves with age:

<9 years: Mean = 78

>20 years: Mean = 86

Inte

llige

nce

and

DM

D

It is important to keep in mind that the cognitive deficits in DMD are stable, and even may improve somewhat over time (especially verbal IQ). Inte

llige

nce

and

DM

D

In summary: there is more than a global

deficit Intellectual impairment is: • specific to language IQ (VIQ); • stable over time; • independent of functional impairments. Inte

llige

nce

and

DM

D

Outline


Specific Language Impairment (SLI)

- late onsett of speaking; - word finding problems; - deficit in auditory working memory; - influent speech: restarts, fillers, pauzes; - speech understanding >> expression. Sp

ecific c

ognitive

def

icits

Short term memory deficits

Wicksell et al (2004): The short term memory deficits might play a critical role in the cognitive impairment and intellectual development.

Controls

DMD

Spec

ific c

ognitive

def

icits

Attention problems: incidence

Hendriksen & Vles, N=351 (DMD boys)

Spec

ific c

ognitive

def

icits

18,7%

7,5%

Cognitive profile: a summary Weaknesses Strenghts expressive language working memory unique for every boy

attentional processes

Spec

ific c

ognitive

def

icits

Conclusion •  There is a relation between brain structure

and cognitive involvement in Duchenne; •  Dystrophin is normally located in specific

areas of the brain; –  Hippocampus (responsible for memory) –  Cerbellum (responsible for automatisation) –  Prefrontal cerebral cortex (responsible for

executive functions like planning) Spec

ific c

ognitive

def

icits

cerebellum, hippocampus and prefrontal cortex

areas of greatest abundance of dystrophin

in the brain

areas that directly subserve cognitive

processes

Prefrontal cortex In

tellige

nce

and

DM

D

DMD and the brain

Outline

1. Introduction 2. Intelligence and DMD 3. Specific cognitive deficits 4. Academic achievements 5. What can we do?

Dutch study on reading in DMD

Aca

demic a

chieve

men

ts

The study itself:

• 25 boys; • All boys had finished elementary reading instruction (>20 months reading instruction);

• mean age 10 years (8 to 12 years).

Aca

demic a

chieve

men

ts

Aca

demic a

chieve

men

ts

Conclusion Academic achievement

1. boys with DMD are at a higher risk of reading disabilities (40% risk)

2. early detection and prevention are important: early screening for language difficulties A

cade

mic a

chieve

men

ts

Outline


Early detection Seek specialist support when:

- Your boy has problems with early speech and language (SLI);

- Your boy is falling behind his peers with reading and spelling.

Psychological assessment and speech therapy assessment is important. Wha

t ca

n we

do?

Maastricht protocol • Screening at 4 years of age:

–  language skills –  strenghts and weakenesses

• Screening at 7 years of age: –  written language skills

Wha

t ca

n we

do?

Early Intervention:

Training phonemic awareness in a preschool programm: rhyming, ditties and playing with sentences and words (Adams, 1998)

Effect: risc of dyslexia was reduced in children of dyslectic parents from 40% to 17%

Wha

t ca

n we

do?

Parents can also contribute! W

hat

can

we d

o?

The benefits of reading aloud to children:

•  More precise phonological representations; •  developing richer vocabulary; •  developing lasting interest in reading.

Most important: Enhance pleasure in reading

Wha

t ca

n we

do?

Conclusions

• Cognitive deficits are related to reading; • reading is important for later education, especially in boys with DMD;

• higher risk of reading problems in boys with DMD: 40%;

• early screening and early intervention is important;

• enhance pleasure. Wha

t ca

n we

do?

Thank You for your attention

• Questions? • Comments?

[email protected]

[email protected]

Cognitive functioning UPPMD site.ppt

Documents

Transcript of Cognitive functioning UPPMD site.ppt