Natural History Study for Patients With Angelman Syndrome

Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.

Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.

Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).

Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).

Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).

Scale o 3 items (5, 50 and 500 meters distance of ability to move alone) to classify children's functional mobility, document change over time in the same child and to document change seen following. This scale is scored 1 (moving alone with wheelchair) to 6 (running).

Scale to Evaluate the general gross motor milestones of 6 items global motor ability, from ability to sit without support to walk alone (score by able or not able). .

Scale of 8 items to evaluation the mobility in young children, scored 0 (unable) to 4 (able and normal for children age) per items (total raw score from 0 to 32).

11 subscales of items evaluated with Caregivers interview tool for assessing the level of autonomy and adaptation for all ages.

Subscales are composed as following (higher scores with better the abilites):

• Listening and understanding, raw score 0 to 40;
• Speaking, raw score 0 to 108,
• Reading and writing, raw score 0 to 54,
• Self caring, raw score 0 to 82,
• Home caring, raw score 0 to 48,
• Community living, raw score 0 to 88,
• Contact with others, raw score 0 to 76,
• Play and use your free time, raw score 0 to 62,
• Adapting, raw score 0 to 60,
• Gros motor, raw score 0 to 80,
• Fine motor, raw score 0 to 72,

Caregivers interview of 23 items with subscales to assessing the general communication.

This is a qualitative questionnaire.

To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures.

Caregivers interview of quality of life severity and change in patient with Angelman Syndrome since last 7 days and since the last month.

Part regarding the severity in last 7 days is composed of 9 items scored 0 ("not at all difficult") to 4 ("very difficult"), raw score is between 0 to 36.

Part regarding change in last month is composed of 9 items scored 1 ("very much improved") to 7 ("very much worse"), raw score is between 0 to 63,

Caregivers interview of quality of life and family impact in daily life separated in two parts, one regarding the last 7 days and one regarding the last month.

Total raw score for each part is on 100 (100 related to no impact to 0 related to a huge impact).

To create a DNA biobank