AADDM Australian

Association of

Developmental

Disability

Medicine Inc.

Phone 07 3163 2413 Fax 07 3163 2445

e-mail n.lennox@uq.edu.au

Newsletter

I s s u e 1 3

April 2011

A new study with

people with

Fragile X

A world wide multicentre drug

trial is occurring to evaluate the

safety and efficacy of a new

drug, developed by Novartis, in

improving the characteristic

behavioural concerns that

typically occur in people with

Fragile X Syndrome.

Three centres in Australia are

involved with this study and are

currently enrolling patients. The

Principle investigators are: Dr

Matt Hunter at Hunter Genetics

in Newcastle, Dr Jane Law at

NSW Developmental Disability

Health Unit in Sydney and Dr

Jonathan Cohen in at the Fragile

X Alliance Inc in Melbourne.

Any drug trial has its challenges

and particularly so with people

with intellectual disability.

Ensuring both consent from the

guardians and assent from the

patient is only a start. The same

carer has to attend all the

appointments along with the

patient, the patient has to have

behavioural concerns and yet be

able to have blood samples

taken, lie down for an ECG and

swallow capsules!

All three centres have had a

special interest in people with

Fragile X and along with the

dedicated Nurse/Research

assistants are hoping to be able

to determine if the initial study

results of this drug demonstrate

a benefit to this population. The

trial has been approved by the

relevant Ethics committees and

the NSW Guardianship

Tribunal.

If you know of anyone who

would be interested in

participating in this trial please

see the inclusion criteria and

contact numbers below.

To be eligible to participate in

the trial, patients must fit the

following criteria:

Be aged 18-45 in otherwise

good general health. If female,

you must be willing to use

contraception for the duration

of the study.

Have a previous diagnosis

of Fragile X based on genetic

testing (full mutation)

Have a caregiver who

spends on average at least 6

hours a day with the study

participant and is willing to

supervise treatment, attend all

study visits and assist with

study assessments

Have a documented mild to

moderate intellectual disability

(IQ score less than 70)

The study lasts for a total of 20

weeks.

If you would like more details

on the trial, please contact

Carolyn Rogers or Jackie

Boyle at Hunter Genetics on

(02) 4985 3136 or (02) 4985

3100.

Jane Law

NSW DDHU

Committee members:

Seeta Durvasula

Jane Law

Helen Leonard

Julian Trollor

John Entwistle

Margaret Kyrkou Coopted member- Helen Beange

President

Prof Nick Lennox

Vice President

Ass/Prof Bob Davis

Secretary:

Dr Jacqueline Small

Treasurer: Dr Jean Graham

Editor: Miriam Taylor

http://ausaddm.wordpress.com/home

Page 2

the most recent Australian Family

Physician has a focus on disability

and some excellent articles from

AADDM members and colleagues.

AADDM will join the Society for

the Study of Behaviour Phenotypes

(SSBP) meeting on their clinical day

planned for Friday the 7th October

in Brisbane. We will hold our AGM

at lunch time on that day. For more

information on the Society for the

Study of Behaviour Phenotypes:

http://www.ssbp.co.uk/ssbp/ We are

also planning a AADDM conference

in Sydney in 2012.

On the national lobbying front, Jim

Simpson (CID), Julian Trollor and I

met with various senior officials of

Department of Health and Aging

throughout 15th December 2010.

This is producing tangible outcomes

with the inclusion of people with

intellectual disability in the trialling

of the e-Health systems. I have also

met with Mark Gibson from GP

Partners to see how we can

incorporate people with intellectual

disability into their trialling of

integrated health systems across

large areas of Brisbane and Ipswich.

From the public documents we

understand that another site with a

focus on people with disabilities will

also be developed in through Greater

Western Sydney e-Health

Consortium (NSW Department of

Health). For more detail, see the

below material which comes from

the Government‘s National Health

Reform Website at http://

www.yourhealth.gov.au/internet/

yourhealth/publishing.nsf/Content/

Home

In addition as Jim has reported in a

recent email – ―Over the last two

months, CID and the Australian

Association of Developmental

Disability Medicine (AADDM) have

started a campaign for the mental

health reform that seems to be

developing in Canberra to

What an extraordinary start to

2011! For us in Brisbane the

impact of the floods remains very

apparent. As I rode to work this

morning I saw the derelict remains

of the floating restraint, guttered

houses and the ongoing work on

paths and roads, some a great

distance from the river. For some

their lives have been impacted at

every level while their near

neighbour now experiences a

minor inconvenience. It is at times

quite strange but thankfully not as

devastating as Christchurch and

Japan. Dr Olive Webb who many

of you will know lives west of

Christchurch at the epicentre of the

previous earthquake which

damaged her house (some

cracking) and her church. The

most recent quake did not affect

her or her loved ones directly.

This newsletter contains some

important news. At a national

level the proposal to develop a

national disability scheme reported

on by the Productivity

Commission. The Commission‘s

report opens with the statement:

―the current disability support

system is under-funded, unfair,

fragmented, and inefficient, and

gives people with disability little

choice and no certainty of access

to appropriate supports.‖

Currently, the recommendations

are supported by both sides of

politics, however adding your

support would help.

The other issues highlighted it the

newsletter at the ongoing work of

Dr Jonathan Cohen, his son

Michael and the Fragile X

Alliance, and also CDDHV‘s Dr

Jane Tracy and friends award for

their innovative teaching program.

Also in this issue we highlight the

development of a Rare Diseases

Strategy and the finding by the

AIHW confirming the poor health

of people with disabilities. Also

specifically address the needs of

people who have both an intellectual

disability and a mental illness. We

have been able to attract support

from leading advocates and groups

in the mental health sector who have

supported the proposition.

Our Proposition to Mental Health

Policy Makers is that:

1. People who have both an

intellectual disability and a

mental illness need to be

included from the start in mental

health reform. They currently

have very poor access to

appropriate mental health

services.

2. Government needs to address this

problem, in particular by

funding specialised intellectual

disability mental health

psychiatrists and nurses who can

act as a consultancy, training

and research adjunct to

mainstream mental health

services.

This includes strong support from

the Royal Australasian College of

Psychiatrists whose President Maria

Tomasic has expertise in intellectual

disability mental health.

We have had an initial meeting with

Mental Health Minister Mark Butler

and Disabilities Parliamentary

Secretary Jan McLucas. Mr Butler

is keen to meet with us again when

he has looked into the issues we

have raised. We are also seeking a

meeting with Shadow Mental Health

Minister Fierravanti- Wells.

There is a lot happening politically

and we have engaged with the key

people on both sides of the

parliament and I am sure that some

very positive initiatives will be

delivered, although we may not get

what we want in the short term.

President’s Report By Nick Lennox

EDAR/CDDHV partnership wins Victorian Community Sector

‘Think Innovation’ Award!

The partnership established between

CDDHV, Monash University, and

Victoria‘s Eastern Disability Access

Resource (EDAR), in which tutors with

intellectual and associated

developmental disabilities are employed

by Monash University to contribute to

medical student teaching, has won a

Victorian Community Sector ‗Think

Innovation‘ Award.

The Award was presented by Minister

for Community Development in late

2010 at the Think Innovation Summit in

Melbourne.

Since March 2009 young adults with a

disability attending the EDAR service

have been employed as tutors within

teaching programs for medical students

run by the CDDHV as part of their

General practice rotation.

The aim of this partnership between

EDAR and CDDHV is to build the

confidence and competence of

1. Monash University medical

students in communicating

clearly and effectively in simple

and accessible ways with people

who have communication

difficulties

2. EDAR clients in public speaking

and giving feedback to health

professionals about their

communication.

The teaching sessions are enjoyed and

highly valued by both medical students

and EDAR tutors.

Medical student evaluations were very

positive, with the following quote being

representative of the feedback received:

―I found that this session was fantastic –

I haven’t had much exposure to people

with developmental disabilities and so

this experience was so helpful and

confidence building. Bringing in the

tutors with disabilities gives firsthand

experience of the challenges and

frustrations associated with

communication difficulties.‖

Page 3

I s s u e 1 3

April 2011

On the 18th-20th of April 2011,

Western Australia will host a

rare disease symposium, entitled

Awakening Australia to Rare

Diseases: Global perspectives

on establishing a coordinated

approach to a national plan.

This symposium builds on work

initiated by the Australian

Paediatric Surveillance Unit

(APSU) and is an important step

in the process of developing a

rare disease strategy in

Australia.

The symposium will draw

together clinicians, researchers,

government policy makers and

regulators, industry and disease

support and advocacy groups

and builds on the work started

by APSU and the National

Rare Disease Taskforce.

The Office of Population

Health Genomics has a

mandate from the Director

General of Health WA to

coordinate a nat ional

symposium and begin the

process of developing a rare

disease strategy for Western

Australia. Our motivation for

the symposium is to provide

information and a framework

for a national plan, to use the

opportunity for engagement

and to build long term

relationships with industry,

RARE DISEASE STRATEGY

The EDAR tutors also

enjoyed the session

and valued the

opportunity to play an

important role in

teaching the next

generation of medical

practitioners. Some

tutors were initially

uncertain and nervous

about participating in

the session, but those

feelings were soon

dispelled.

In the words of two

EDAR tutors “this

morning was a great

success” and “I really

enjoyed it”. The

regular teaching

schedule enables these

educational sessions to

become experiences

for which the EDAR

tutors plan and prepare

within their own

learning program at

EDAR.

Both the CDDHV and

EDAR organisations are

committed to maintaining

the tutorial opportunity as

an integral part of their

educational activities for

both medical students and

tutors from the EDAR

service.

Further developments in

the relationship between

EDAR and Monash

University have lead to

Monash medical students

attending EDAR Services

as part of their Community

Based Practice Program

which in turn has facilitated

the development of new

understandings and the

production of a range of

new resources.

For more information and

a video clip see

www.cddh.monash.org/

highlights.html

Page 4

Cont from page 3

Page 5

population. Using these

data conservative estimates

suggest that approximately

1.4mill ion Austral ian

people are affected by rare

diseases.

Most rare diseases begin in

childhood, are usually

diagnosed in children aged

under 2years of age, and

continue throughout life. It

has been estimated that

65% of rare diseases are

classified as serious and

debilitating [6]. They are

characterised by: Appearing

early in life, over 65%

occur before the age of 2

years;

Chronic pain is a feature in

20% of this cohort;

M o t o r , s e n s o r y o r

intellectual deficiency in

50% of all cases, leading to

an incapacity which reduces

autonomy in one case out of

three;

Impairment of vi tal

prognosis in 50% of all

cases, with rare diseases

responsible for;

35% of deaths before the

age of 1 year, 10%

between the ages of 1 and 5

years, and 12% between 5

and 15 years.

Estimates based on hospital

admissions and costs of the

10 most expensive genetic

disorders described in

paediatric patients with

genetic disorders in

Western Australia (2000 –

2006), the cost per

admission is $7,072 and the

overall cost to the system is

approximately $51million

dollars or over $10million

policy, advocacy and support

groups, clinical and medical

services across the spectrum of

rare disease stakeholders. It is

only through engagement and

developing a strong national

voice for rare diseases that we

can implement a plan for

Australia.

Further details are available on

the Rare Diseases Australia

w e b s i t e h t t p : / /

www.raredisease.com.au and

registration forms will be

loaded onto the site shortly

along with new information

We hope you are able to join us

for this exciting initiative.

CONTEXT FOR A RARE

DISEASE STRATEGY

In Australia, a disease is

classified as rare if less than

one person in 10,000 is

affected. Rare diseases are

frequently life-threatening or

chronic debilitating diseases.

At present nearly 7,000 rare

diseases have been identified,

80% of which have a genetic

origin and the effects of which

are more or less debilitating

across the spectrum of human

health, affecting movement,

speech, hearing, cognition,

quality of life, limited life

expectancy, pain, repeated

hospitalisation and the wider

ramifications for family,

friends, carers and the

community.

When taken cumulatively, rare

disease affect an estimated 1-in

-12 to 1-in-17 people, or about

6% -8% of the Australian

per annum. Extrapolation of these

f igures equates to over

$100,000,000 per annum.

The figure below illustrates some

body systems affected by rare

diseases and estimates of the

number of West Australian with

rare genetic diseases

KEY ISSUES IN A RARE

DISEASE PLAN

The key challenge in

developing evidence-based

guidelines to improve health is to

assess the clinical validity and

utility of an application;

The translation of research

findings into restorative therapies

and early disease intervention are

forecast to become the mainstay

of medical therapies across the

spectrum of medicine and clinical

care;

Development of sound

genetics guidelines requires

timely and coordinated policy

development process that builds

on evidence based science and on

-going community consultation;

and the government policy nexus

that bridges biology and

technology with the behavioural

and social sciences to provide the

policy framework for health

outcomes across technology-

driven healthcare systems.

I s s u e 1 3

A p r i l 2 0 1 1

A workshop on the

genetics of Fragile X

took place in Shepparton

Victoria on 1st April

2011.

With an estimated

prevalence of 100,000

people in Australia

affected by Fragile X,,

the workshop aimed to

raise awareness and

provide strategies for

whole of life.

Dr Jonathan Cohen

founded the Fragile X

Alliance in 1995.

See opposite for one of

the highlights of the day.

Page 6

Fragile X

Australian Family Physician

April issue on disability Vol 40, (4) 177 - 256

The theme for the April issue of AFP is Disability. This month's articles include Intellectual disability,

Sex and intellectual disability – dealing with sexual health issues, Cerebral palsy in childhood, Behav-

ioural concerns – assessment and management of people with intellectual disability and Australians with

Down syndrome – health matters.

The edition is publically accessible on http://www.racgp.org.au/afp/201104

Published with permission of The

Shepparton News.

Tammy Mills -Journalist

www.sheppnews.com.au

Almost half of Australians

with severe or profound

disability are not in good

health, according to a

report released today by the

Australian Institute of

Health and Welfare.

The report, Health of

Australians with disability:

health status and risk

factors, found that 46% of

Australians aged 15-64

years with a severe or

profound disability reported

poor or fair health,

compared to only 5% of

those without disability.

‗People in this group had

higher rates of all types of

long-term health conditions

than those without a

disability,‘ said Dr Xing-

yan Wen of the AIHW‘s

Functioning and Disability

Unit.

People with severe or

profound disability were

more likely to have

acquired a long-term health

condition earlier in life than

those without disability.

Some of these conditions

were diabetes/high blood

sugar level before the age

of 25, arthritis before the

age of 25 years and

osteoporosis before the age

lower than that for people

without disability, which is

about 35%.‘

The gap between those with

and without a disability is

not just seen in terms of

physical health—almost half

(48%) of people aged under

65 years with severe or

profound disability had

mental health problems,

compared to just 6% of the

wider population with no

disability.

‗Among people with both

severe or profound disability

and mental disorders, 14%

had behavioural and

emotional problems starting

in childhood or

adolescence—double that of

those without disability,‘ Dr

Wen said.

Given limitations in the data

used in the analysis, it was

only possible to look at

health status for those with a

severe or profound disability

in comparison to those

without a disability. Those

with less severe disability

were not able to be

compared in this work.

http://www.aihw.gov.au/

publication-detail/?

id=6442472401&libID=6442472

382

of 45 years.

‗About 69% of those aged

18–64 years with severe or

profound disability were

found to be overweight or

obese, compared to 58% of

those without a disability,‘

Dr Wen said.

‗Many of these health

conditions are interrelated,

and some are caused or

exacerbated by lifestyle

factors, which themselves

can be a result of the

disability.‘

Compared to their

counterparts without

disability, people aged 15-64

years with a severe or

profound disability were

more likely to do little or no

exercise (43% versus 31%),

to be current smokers (31%

versus 18%), to start

smoking before the age of 18

years (38% versus 22%), and

are less likely to have never

smoked (42% versus 61%).

‗Interestingly, however,

when it comes to drinking

alcohol, only one quarter of

people aged 15 to 64 years

with severe or profound

disability drank alcohol at

medium or high-risk level.

The proportion was much

Australian Institute of Health and

Welfare finds gap in health of

Australians with and without a

disability

Page 9

Page 9 UNDERCOVER REPORTER (We will not reveal our sources!)

The Better Start program

http://www.fahcsia.gov.au/about/

news/2010/Pages/

better_start_13122010.aspx

Despite its shortcomings, and focus on un-

der children under six years of age, it is an

important first step by the government in

recognising the need for early intervention.

TO REGISTER FOR MORE NEWS

PLEASE GO TO

http://www.janmclucas.com.au/index.php?

opion=com_content&view=article&id=35

&Itemid=19

Senator Jan McLucas (below)

Better Start Program roll-out

UPCOMING POSITION

Nurse Clinic Coordinator

The Queensland Centre for Intellectual and De-

velopmental Disability, School of Medicine, the

University of Queensland, was established in

1997 and conducts world renown research and

clinical services which contribute to the health

and well-being of adults with intellectual dis-

ability. QCIDD is seeking to appoint a Nurse

Clinic Coordinator.

To obtain the position description and selection

criteria from QCIDD, please email

qcidd@uq.edu.au for further information.

Productivity Commission

The Productivity Commission is the

Australian Government‘s independent

research and advisory body on a range

of economic, social and environmental

issues affecting the welfare of Austra-

lians. Its role, expressed most simply, is

to help governments make better poli-

cies, in the long term interest of the

Australian community. In their Disabil-

ity Care and Support Draft Report,

http://www.pc.gov.au/projects/inquiry/

disability-support/draft

The report clearly states that ―the cur-

rent disability support system is under-

funded, unfair, fragmented, and ineffi-

cient, and gives people with a disability

little choice and no certainty of access

to appropriate supports.‖

The Report supports the NATIONAL

DISABILITY INSURANCE SCHEME

as part of its major recommendations,

‖The NDIS would fund long-term high

quality care and support (but not in-

come replacement). Around 360 000

people would receive scheme funding.‖

This draft report was released on 28

February 2011. You are invited to exam-

ine this report and make written submis-

sions to the Productivity Commission

by 30 April 2011. Please see the web-

site above to make submissions.

AADDM with the NSW CID made a

submission to the original hearings.

Please send comments for a joint sub-

mission directly to AADDM Executive.

The aims of AADDM are to:

1. Improve the health of people with developmental disability across the lifespan;

2. Establish a national standards for management of the health of people with disability;

3. Endorse a national approach to delivery of health care in Australia for people with developmental disability;

4. Continue professional development of doctors with an interest in the health of people with developmental disability.

AADDM has adopted as its Principles the European Manifesto: Basic Standards of Healthcare for People with Intellectual Disabilities, which are driven by principles of human rights.

This Manifesto states that:

People with intellectual disabilities are citizens of their country and they have an equal right to be included in society, whatever their level of disability.

People with intellectual disabilities have many gifts and abilities, but they may also have special needs and may need a choice of services to support their needs.

People with intellectual disabilities have the same human rights as other citizens.

People with intellectual disabilities have the right to equal participation in society and to participate in all decisions that concern their lives.

Every Australian Counts is

the campaign for the

introduction of a National

Disability Insurance

Scheme. The NDIS will

revolutionise the way

people with a disability,

their families and carers

are supported in this

country.

The NDIS will be a new

support system for people

with a disability, their

families and carers. It will

transform the way services

are funded and delivered,

ensuring people are better

supported and enabling

them to have greater

choice and control.

Over the next few months

the Productivity

Commission will report to

the Government on the

findings of its inquiry into

a long-term disability care

and support scheme.

We need every Australian

to stand up and say that

people with a disability,

their families and carers in

this country deserve better

and that it‘s time for

change. We need every

Australian to say that

people with a disability,

their families and carers

are Australians too, and

that their hopes and dreams

count. That they are part of

our community, and that

they count.

We need to show the

government that there is

widespread community

support for change – and

that the time for action has

come.

On the pages of this

website you can find out

how the NDIS will help

people with disabilities at

home and at work, and the

ways it will help children,

families and students.

You can support the

campaign, by taking action

to make every Australian

count.

AADDM aims

Page 9

Are you up to date on the National

Disability Insurance Scheme?

I s s u e 1 3

A p r i l 2 0 1 1

Page 11 I s s u e 1 3

April 2011

The 2011 Primary Health Care (PHC) Research Conference will be

held in Brisbane from 13-15 July 2011. Join us and participate in

this premier primary health care networking event.. This

Conference aims to focus on Inspirations, collaborations,

solutions.

http://www.phcris.org.au/conference/2011/index.php?

promoid=384&stk=re

http://www.rhef.com.au/

http://www.abc.net.au/rn/lifematters/stories/2011/3161881.htm

http://www.challengingbehaviour.org.uk/

http://www.abc.net.au/rn/healthreport/stories/2011/3142529.htm

http://www.aihw.gov.au/publication-detail/?id=6442472401

http://www.humanrights.gov.au/disability_rights/health/index.htm

Upcoming conferences and

events of interest

Interesting websites