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Sydney, february 26th

DYSTROPHIN, BRAIN AND COGNITION Jos Hendriksen, PhD Clinical child psychologist Kempenhaeghe Centre of neurological Learning disorders

University Hospital Maastricht


Session 1: the learning brain in DMD (1.30-2.15 pm)


1999

PPUK learning and behavioral Toolkit (2006). www.ppuk.org Education Matters (2007)

www.parentprojectmd.org


Aim: we intend to give some guidelines and support to all of them living and working with the boys at home, school or during therapy.


OUTLINE: 1. Introduction 2. Intelligence and the profile of strenghts and deficits 3. Learning at school 4. Conclusions


Introduction

AIM OF THE LECTURE: • • • •

STRENGHTS AND DEFICITS ANTICIPATE AND AWARENESS PARENTS & PROFESSIONALS UNIQUENESS:

Average boy with DMD does not exist


Introduction

THERE IS BRAIN INVOLVEMENT IN DMD !!


Introduction

No gross structural abnormality in the brain of DMD has been observed PET-scans: Indications of cerebellar hypometabolism (Bresolin 1994)


Depletion of brain dystrophin:

Introduction

Brain area • Hippocampus • Cerebellum • Prefrontal cortex Prefrontal cortex

Cognition memory automatisation planning/organisation


Areas of interest

Duchenne and brain. Intelligence & Learning

Psychosocial adjustment

Behavioural functioning


Intelligence and DMD

Intelligence in DMD: a review of 32 studies


Intelligence and DMD

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


Intelligence and DMD

The Intelligence Quotient

30% of children with DMD have an IQ below 70


Intelligence and DMD

Intelligence and age


Intelligence and DMD

Association between IQ and age VIQ improves with age: <9 years: Mean = 78 >20 years: Mean = 86

As boys grow older they grow out of a verbal deficit


Intelligence and DMD

It is important to keep in mind that the cognitive deficits in DMD are stable, and may improve somewhat over time.


Intelligence and DMD

Mutations before exon 30 are significantly associated with cognitive impairment

Desguerre et al. (2009) Clinical heterogeneity of Duchenne Muscular dystrophy. Definition of subphenotypes and predictive criteria by long-term follow-up. Plos ONE 2009; 4 (2) e4347


Intelligence and DMD

In summary: Intellectual functioning is: •Showing more problems in language thinking (VIQ); •stable over time; •independent of functional impairments


Cognitive strenghts and deficits


Strenghts and deficits

Child neuropsychology

COGNITIVE FUNCTIONS Profile of strengths and weaknesses ?


Strenghts and deficits

STRENGHT: Visual thinking


Strenghts and deficits

STRENGHT: Visual thinking


Strenghts and deficits

Bas 9 years


Strenghts and deficits

WEAKNESS Language thinking Vocabulary:

- What does ancient mean?

Information:

- What are the four seasons of the year? - Where does the sun set ?

Fluent language production


Strenghts and deficits

Late diagnosis of DMD presenting as developmental delay C. Essex, 2001 (West Midlands region): 8 of the 18 boys (44%) diagnosed as DMD were first referred because of concerns of language or cognitive development


Strenghts and deficits

Specific Language Impairment (SLI) - late onsett of speaking; - word finding problems; - deficit in auditory working memory; - influent speech: restarts, fillers, pauzes; - speech understanding >> expression.


Strenghts and deficits

On command speech: telling a story


Strenghts and deficits

Bas telling a story: Toys, mammy, child ….. fish …c.c.cat …he .. eh .. eh…p….p..play…. with …..balls…then…he.. eh..eh… went….

On command speech is the core problem


Strenghts and deficits

Automatisation 1


Strenghts and deficits

Automatisation 2


Strenghts and deficits

Automatisation 3


Strenghts and deficits

Automatisation

â&#x20AC;˘dramatic changes in cortical activation as automaticity develops. â&#x20AC;˘ 90% reductions in the amount of cortical activity as skill is acquired.


Strenghts and deficits

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


Strenghts and deficits

A real life situation: They only get part of the message â&#x20AC;&#x153;Go to the livingroom, check whether television is off, and also bring me the newspaperâ&#x20AC;?.


Strenghts and deficits

Attention problems: incidence Hendriksen & Vles, N=351 (DMD boys) 18,7%

7,5%


Hendriksen & Vles, N=351 (DMD boys) 2,00

problems concentration

Strenghts and deficits

Concentration problems: developmental profile

1,75

1,50

1,25

n=3 4 4

1,00 3

4

5

6

7

8

9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 27

age


Strenghts and deficits

Test of every day attention Count the number shot sounds:


Strenghts and deficits

“Not being able to do” versus “not wanting to do”: Teachers complain the boys are not motivated while in fact they are not able to quickly switch their attention and go on with a next task


Strenghts and deficits

Cognitive profile: a summary Weaknesses expressive language working memory attentional processes automatisation

Strenghts visuospatial capacities rote memory


Special education or not?

The netherlands: 38% visits special education 62% visits regular schools


Learning and academics

Dutch study on reading in DMD


Learning and academics

The study itself: •25 boys; •All boys had finished elementary reading instruction (>20 months reading instruction); •mean age 10 years (8 to 12 years).


Learning and academics

Definition of reading problems • Normal intelligence: IQ > 85 • Reading quotient < 70 % – word reading – non-word reading • Child behaviour checklist (CBCL)


Learning and academics

Non-word reading Spow

clirt

phantritre droy doilible

scray disclorping

flamp weeg


Automatisation of a computer game in dyslexia


Learning and academics

In normal population 2- 5% have serious reading problems


“Why is reading and spelling so hard for me .Everyone else seems to get it….I must be stupid….”


Dyslexia No cure, but yet successful


Learning and academics

Early detection is important: specialist support - Problems with early speech language (SLI) - Falling behind his peers with reading and spelling Psychological assessment and speech therapy assessment


Learning and academics

Maastricht protocol: • Screening at 4 years of age: – language skills – strenghts and weakenesses: • Screening at 7 years of age – written language skills


Academic achievements

Drill and practice: does it work? Automatisation: practice daily for 5 minutes Guideline: it is better to practice every day for 10 minutes in stead of two times 35 minutes


Learning and academics

Enhance pleasure in reading

Emerging literacy Learning the letter /S/


Learning and academics

Phonological awareness • KEY to learning to read • RHYMES • DITTIES • LISTEN GAMES • AND SO ON e.g. Say /C A T/ leaving out the /C/


Learning and academics

Enhance pleasure in reading • Make the occasion a special one; • When you are reading aloud, show that you are enjoying yourself; • Involve your boy; • Establish a daily routine; • Involve him in choosing books; • Be sure to correct your child in a gently way when he makes mistakes; • Help your boy building vocabulary and memory • Audio books are especially helpful


DYSCALCULIA

http://www.dyscalculia.org/ Difficulty understanding or using mathematical symbols. Often people with this disorder can understand very complex mathematical concepts and principles but have difficulty processing formulas and even basic addition and subtraction.


Learning and academics

Numeracy problems impact more negatively on job prospects than literacy problems Bynner, J. & Parsons, S. (1997) Do Numeracy Skills Matter? â&#x20AC;&#x201C; Basic Skills Agency


The mathematical brain Subitizing: Recognising the number of dots without counting them


Learning and academics

The prevalence of dyscalculia: 4-6% (Butterworth, 1999) In DMD: 10% serious math problems; 10% moderate math problems


Learning and academics

Use errorless learning strategies

Minimize errors in learning by providing information before he is able to make an error


SELF MONITORING - SUBTRACTION BILLY: 1. I copied the problem correctly 2. I regrouped when I needed to (top number is bigger than bottom). 3. I borrowed correctly (number crossed out is one bigger) 4. I subtracted all the numbers 5. I subtracted correctly 62


Learning and academics

Actively involve your child Psycho-education


Remember to: • Optimize their strengths • Take in account their deficits • Detect, train early and enhance pleasure It has to do with brain function 64



Understanding the role of Dystrophin in the Brain