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"Welcome to the Angelman Project!

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 treatments.

* 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 feature.

If you have questions or suggestions, please Contact Us.

Further information:

The Angelman Project
Angelman Syndrome
The DVD Collection
GeneticaLens
Louise Tiranoff Productions

 

 

Lavania

Lavania, lives 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.

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