Natural History Study for Patients With Angelman Syndrome

Centre Hospitalier Universitaire de Liege30 enrolled

Overview

This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years. The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.

Patients are seen every six months for five years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II).

Study Type

OBSERVATIONAL

Enrollment

Conditions

Angelman Syndrome

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Genetically confirmed diagnosis of AS * 0-99 years * Male or Female * Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study Exclusion Criteria: * comorbidity that could potentially affect the results of the study coexists. This

Locations (1)

Outcomes

Primary Outcomes

Bayley-IV gross motor functions

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

Time frame: 2 years

Bayley-IV fine motor functions

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

Time frame: 2 years

Bayley-IV Cognitive

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

Time frame: 2 years

Bayley-IV Receptive Communication

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

Time frame: 2 years

Bayley-IV Expressive Communication

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

Time frame: 2 years

Functional Mobility Scale (FMS)

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).

Time frame: 2 years

Developmental Milestones

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). .

Time frame: 2 years

Hammersmith Infant Neurological Examination (HINE - if under 2 years old)

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).

Time frame: 2 years

Vineland-II

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): 1. Listening and understanding, raw score 0 to 40; 2. Speaking, raw score 0 to 108, 3. Reading and writing, raw score 0 to 54, 4. Self caring, raw score 0 to 82, 5. Home caring, raw score 0 to 48, 6. Community living, raw score 0 to 88, 7. Contact with others, raw score 0 to 76, 8. Play and use your free time, raw score 0 to 62, 9. Adapting, raw score 0 to 60, 10. Gros motor, raw score 0 to 80, 11. Fine motor, raw score 0 to 72,

Time frame: 2 years

Observed Reported Communication Assessment (ORCA)

Caregivers interview of 23 items with subscales to assessing the general communication. This is a qualitative questionnaire.

Time frame: 2 years

Continuous movement monitoring using ActiMyo®

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

Time frame: 2 years

Secondary Outcomes

Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)

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,

Time frame: 2 years

Pediatric Quality of Life (PedsQL)

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).

Time frame: 2 years

Natural History Study for Patients With Angelman Syndrome

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts