Low prevalence disorders
FINDING THE FACTS

Webwords 13
ACQ Internet Column
February  2003
Caroline Bowen

Big picture
Opportunities to work as a WHO volunteer are limited. The organization provides humanitarian action on a scale that is almost too big to comprehend, and in situations that are distressing, even to contemplate. Accordingly, WHO only wants individuals with the experience and expertise to allow them to make a positive contribution to the world community.

Communities ...
The information provided by epidemiologists is vital to the efficient operation of many humanitarian agencies.  Epidemiology is concerned with the distribution and determinants of diseases and injuries in human populations. Whereas clinical medicine focuses on the individual patient, in epidemiology "community" replaces "patient". A systematic approach is used to study the differences in disease distribution in subgroups, and causal and preventative factors. 

great ...
Human genome epidemiology (HuGE) is an evolving field of inquiry into the impact of human genetic variation on health and disease. Many of the conditions it concerns itself with are of pandemic proportions, overwhelming in their seriousness, reflecting, as they do, great and global heartache and intense personal suffering.

... and small
Just as heart wrenching, at the other end of the epidemiological scale, are the sites devoted to low prevalence conditions. Low prevalence can be understood as being a prevalence that is generally recognized as less than 5 per 10,000 of population in the community. Six to seven thousand rare diseases have been found and 5 new diseases are described every week in the medical literature. 

Databases
The NORD, Orphanet or BDID databases, key-word searches, and personal home pages reveal that many low incidence conditions carry with them communication delays and disorders, posing a special information seeking challenge to speech language pathologists.

Michael Giangreco
Michael Giangreco, a research Professor at the University of Vermont, is assigned to the Center on Disability and Community Inclusion. His professional and research interests encompass the why and how of planning, adapting, coordinating, implementing, and evaluating educational programs and services for students with disabilities who are included in general education classrooms. His work is highly regarded and widely published. 

Particularly inspiring, for speech language pathologists, is Giangreco, 2000. This article about low incidence and services to students, in PDF format, has been made available to ACQ Webwords readers by ASHA, the copyright owner, with the author's kind support. 

It is interesting to know that ASHA members, including International Affiliates, now have access to all the association's journal articles online, as a member benefit. 

Giangreco's rambling labyrinthine web site with its information about inclusion, paraprofessional support of students with disabilities, curriculum planning and the COACH and VISTA approaches repay a few hours exploration, just to get a feel for his important work.

Unit
Closer to home, the Queensland Education's Low Incidence Unit coordinates a range of specialised state-wide services which enhance and extend educational options for students with low incidence support needs. Its Internet site provides copious information, including a very good article on the IEP process.

Optimism
Back to the big picture at the World Health Organization. Idealism, enthusiasm and a positive outlook are not specified in the recruitment brochure as essential qualities for team members, but they would certainly help those individuals who stay the distance. 

Maybe it was just such an optimistic group who formulated the organization's definition of health, as a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity. 

It makes a good motto, whether we are part of the big picture of world health, or the small picture of low incidence disability, whether we are part of a team involved in a rapidly expanding field like human genome epidemiology, or the slow-moving, low profile, hum drum that can be the reality of day to day solo SLP clinical practice. 

For surely, this aim of ensuring the best possible outcome for all of our clients, is explicitly enshrined in the code of ethics that we all embrace as Speech Pathology Australia members.

Reference
Giangreco, M. F. (2000). Related services research for students with low incidence disabilities: Implications for Speech-Language Pathologists in inclusive classrooms. Language Speech and Hearing Services in Schools, Vol 31, 230-239 DOWNLOAD
Copyright held by the American Speech Language Hearing Association. Posted with Permission

Low incidence links
CHID: Database Contributors
CHID a bibliographic database produced by health-related agencies of the US Federal Government. It provides titles, abstracts, and availability information for health information and health education resources, and is updated four times annually in January, April, July, and October. CHID 

CLAS
This Institute collects and describes early childhood/early intervention resources that have been developed across the U.S. for children with disabilities and their families and the service providers who work with them. materials and resources

Canadian Paediatric Surveillance Program (CPSP)
To be eligible for inclusion in this national surveillance program in Canada, conditions must be of such low incidence or prevalence to require a national ascertainment of cases.

Definition, incidence & prevalence of ABI in Australia
Comprehensive information on acquired brain injury in pdf format.

Education of Children with Severe LI Disabilities
Report by the Scottish executive. 

eMedicine: Specialties / Patient Education
"eMedicine was launched in 1996 and is the largest and most current clinical knowledge base available to physicians and health professionals... All...original content undergoes four levels of physician peer review plus an additional review by a PharmD."

Epidemiology
This page is maintained by the Department of Epidemiology and Biostatistics at the University of California San Francisco.

Genetic and rare conditions information site
Clinical Genetic Services, University of Kansas Medical Center.

IEP discussion
Special education support group with a free IEP guide.

Medical / Health Science Libraries
Superbly maintained by the Hardin Library for the Health Sciences, University of Iowa.

MEDLINEplus
Speech and Communication Disorders.

Pediatric Data Base
The purpose of Dr Alan Gandy's Database is to provide information on various paediatric disorders.

NIDCD News and Events
National Institute on Deafness and Other Communication Disorders: National Institutes of Health.

NORD
National Organization for Rare Disorders.

Office of Rare Diseases (ORD)
Here you can find information on more than 7,000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

Open Directory Health: Conditions and Diseases
Conditions and rare disorders.

Orphan Drugs in the USA
Orphan drugs are used in diseases or circumstances which occur so infrequently in the USA, that there is no reasonable expectation that the cost of developing and making available in the USA a drug for such disease or condition will be recovered from sales in the USA for such drugs.

Quantifying disease in population
British Medical Journal.

Rare Conditions / Syndromes
NHS site in the UK.

Research Databases Comm Sciences / Disorders
Communication sciences and disorders: James Madison University.

Wisdom on the Web
WISDOM is a suite of databases produced by the Information Service at the Wellcome Trust.

Webwords Index

Page updated May 29, 2006

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