The Angelman Project
is the first in a series of multi-media databases on low incidence
disorders. Working collaboratively with experts in the disciplines
related to the study of Angelman Syndrome in education, medicine,
and science, The Angelman Project makes use of the latest
advances in communication technology to acquire current data on
Angelman Syndrome. We hope that this site will become an invaluable
resource for physicians, therapists, researchers, educators, families
and all those interested and we welcome your feedback.
The Angelman Project
Louise Tiranoff, Principal Investigator is funded by The National
Institutes of Health (NIH) Institute of Child Health
and Human Development Bethesda Maryland # HD32249 and by The
Angelman Syndrome Foundation, USA.
The Angelman Project is a comprehensive,
searchable, and interactive digital database of videos, texts and
photographs, designed to facilitate the diagnosis, treatment, and
education of individuals with Angelman Syndrome (AS).
At the heart of the Angelman Project, a collection of video documentaries,
provided on DVDs, which are described and offered for sale on this
site. The videos present first-hand observations of subjects photographed
in various different environments such as in their homes, schools,
and in the community. These observations are combined with interviews
with family members as well as physicians, therapists, researchers,
and professionals involved in public and private educational systems.
The videos range from simple clips of individuals with AS to complex
documentaries, offering commentaries by experts and families.
Photographs of the subjects at different stages of development
are also included, as well as journal articles, and other texts
which are included on this site.
The Angelman Project can be used as a tool
which will allow pediatricians and other health professionals to
view the typical signposts of AS, while geneticists, researchers,
and other AS specialists will be able to access and evaluate case
study scenarios of AS subjects.
* If you are a healthcare professional,
you will find assistance in making a diagnosis, as well as recommending
therapies. There are guidelines on the clinical diagnosis, as well
as information available on genetic confirmation of the diagnosis.
There are at least four different genetic confirmations possible.
Even though speech is rare in AS, individuals with the UPD diagnosis
(link to Kaitlin) can have the ability to say many words.
* If you are a therapist, you will find
examples of therapies used with subjects of different ages and abilities.
You will be able to access information on communication in AS --
individuals with Angelman syndrome do not have speech, for the most
part, but do have good receptive language skills. You will be able
to find information on physical therapy -- most individuals with
AS can walk, although their ability to walk can be delayed into
their 5th year or longer.
* If you are a caregiver or parent, you
will find assistance in all areas, from neurology to education,
as it is the parent or caregiver who is also most often the coordinator
of necessary therapies, and proper medical care. You will also find
support from other families, and ideas as to how they handled crises
at each stage of development - from childhood, through adulthood.
* If you are a teacher, you can access
examples of teaching in a variety of settings - from a special education
environment to a mainstream or inclusion environment, or a combination
of both within one school. This database will help you understand
the individual with AS now entrusted to your care. You will be better
able to judge appropriate teaching methods.
* If you are a school principal or education
administrator and policy maker, you can find examples of how
other principals have developed programs at the elementary, junior
high school and high school level. (See KATE principal piece)
* If you are a researcher, you can investigate
such issues as phenotypic correlations to genetic diagnoses.
* If you are a neurologist, you can find
examples of seizures in individuals with AS and guidance to successful
* If you are a psychologist, you can observe
counseling sessions, as well as behavior modification with subjects.
A team of medical and media experts has
been assembled to develop and produce the project. The team includes
a principal investigator, experts on developmental medicine in general,
researchers, video producers and technicians, and digital media
designers and programmers.
Information provided by experts (interviews
in labs, offices, and with patients) Collections are offered on
the work of certain outstanding experts such as Charles Williams,
Jill Clayton-Smith, Joseph Wagstaff, or Terry Hutchison. These videos
can be searched by the name of the expert, or by a pertinant keyword
such as "seizures," or "IEP" (Individualized Education Plan). Click
here to see examples.
Data relating to individuals with AS, the
stage of life they are in, the issues important to their care and
well-being. This includes interviews with families and observations
of behavior i.e., disposition, communication, styles of locomotion)
and appearance (i.e. craniofacial structure and other phenotypic
features.) Click here to see examples.
The Angelman Project database provides a collection
of videos available on CD-ROM with text references. See chapters
by Dr. Charles Williams and Jill Hendrickson. (More chapters are
to be added in the near future)
In addition, The Angelman Project also features
a search and retrieval engine to allow the user to query on a word
or concept, for purposes of quick reference, or to use an index
If you have questions or suggestions, please Contact
The Angelman Project
The DVD Collection
Louise Tiranoff Productions
in the Eastern U.S. with her parents and younger brother. She was
born in South Africa and her parents moved to the U.S. to help Lavania
get better care. She is in a partial inclusion program in her public
school. She was 7 years old when filmed for The Angelman Project.
Lavania enjoys music and horseback riding therapy.