"NORO³ ONE STEP TOWARDS A SUCCESSFULL REHABILITATION

Dr. Ioana Rotaru ³ACASA´ Rehabilitation, Treatment and Care Center, Zalau, Romania

³ NoRo´: Norwegian-Romanian Partnership for Progress in Rare Diseases Project aim : to improve the quality of life ( QOL) for people affected by rare diseases in Romania.

³ACASA´ Foundation is a Romanian-Dutch foundation, created for offering rehabilitation and treatment for children and adults. In order to reach this goal, ³ACASA´ Foundation offer medical and social services at people home, and in one Rehabilitation Center . ³ACASA´ Foundation is partner in this project and starting with august 2009, in our center were hospitalized monthly, groups of patients with rare diseases, including patients with PWS.

PARTNERSHIP - WHY ?
BECAUSE : 1. We are here to rehabilitate and we want to intervene as early is possible to diminish impairments 2. We recognize our need for teams/help to provide support and we seek solutions ³Rehabilitation is a complex area of activity: medical, educational, social and professional witch aims entirely possible restoration of functional ability lost by patient following a disease or a trauma and also developing compensatory mechanisms, with a view to reach maximum individual performance and maximum economic and social independence.³ ( definition WHO of rehabilitation) THE MAIN OBJECTIVE OF REHABILITATION IS TO IMPROVE THE QOL

DIMENSIONS OF QOL :
Financial circumstances

Physical and functional status ( health and independence)

Psychological and emotional well being

Social relationship and participation

QOL

PARTNERSHIP ± HOW ?
TOGETHER with other partners of the project: Romanian Genetics Society, Medical University Timisoara, Romanian National Alliance for Rare Diseases Information Center for Genetic Rare Diseases NoRo

DIMENSIONS OF QOL IN PWS : Physical status ( health)
1.Hypotonia - Weak muscle tone 2. Problems with strength, balance, coordination, motor planning 3. Delayed motor/physical milestones 4. Dyspraxia & apraxia 5. Weight gain 6. Swallow problems 7. Scoliosis, orthopedic problems 1. Abnormal growth 2. Respiratory and gastroenterological issues 3. Incomplete sexual development 4. Dental problems 5. Eye abnormalities 6. Medication sensitivity 7. Sleep disorders.

DIMENSIONS OF QOL IN PWS : Functional status ( independence)
1.Mobility- ability and skill ; self-contained or with help devices; indoor or outdoor; on smooth or rugged surfaces; 2. ADL - decreased abilities in daily living skills despite IQ.

DIMENSIONS OF QOL : Psychological and emotional well being
1. Emotional labiality and behavioral manifestations. 2. Cognitive limitations. 3. Decreased abilities ( picture recognition, mathematics, short-term memory. 4. Speech and Language Issues 5. Psychological / Psychiatric Problems

DIMENSIONS OF QOL : Social relationship and participation
1. 2. 3. 4. Special Education Family, support group, community Residential living arrangements Meaningful hobbies

DIMENSIONS OF QOL : Financial circumstances
1. Meaningful Work

RESULTS
Management Strategies
1.
Early Diagnosis ± Genetic Testing 11 patients PWS : 4 comes 1 time/ 2 comes 2 times/ 5 comes 3 times - every 6 months for 3 weeks 3 adults; 8 children; 10 girls/ 1 boy; 3-14/22-25 years 5 had genetic diagnose/ 6 was performed genetic tests trough the project all the patients benefits from genetic counseling

2. 3.

Growth Hormone Therapy Weight Management Strategies, including restricted calorie diet, 24/7 environmental controls Physical, Occupational, Sensory Integration Therapy, Oral Motor/Speech & Language Therapy, Social Skills Therapy Family Therapy to help family members manage high and chronic levels of stress Ongoing family education on the syndrome, along with treatment and management strategies . Behavior management.

adults/1 GRH, children 4 GRH
All ± individual diet !!! not a ideal one !!! ( financial reason) All ± individual plan

4.

5. 6.

All / individual and group therapy All

7. 8.

All but for a short time/ different types of interventions/ suggest strategies 2 discontinuous

Sex Hormone Replacement Therapy in Adolescence.

RESULTS
Management Strategies
Monitoring by: pulmonologist, ophthalmologist, dentist, psychologist, psychiatrist, urologist (boys), gastroenterologist, orthopedist, PT, OT Special Education Not all depending from accessibility to specialist sleep apnea ± 4 scoliosis ± all / 4 have All but for a short time/ different types of interventions/ suggest strategies NO

9.

10.

11.

Meaningful Work and Hobbies

12.

Residential Living Arrangements

NO

64 63,5 63 62,5 62 61,5 61 60,5 60 59,5 59 58,5 58 57,5 57 56,5 56 55,5 55 54,5 54 53,5 53 52,5 52 51,5 51 50,5 50 49,5 49 48,5 48 47,5 47 46,5 46 45,5 45 44,5 44 43,5 43 42,5 42 41,5 41 40,5 40 39,5 39 38,5 38 37,5 37 36,5 36 35,5 35 34,5 34 33,5 33 32,5 32 31,5 31 30,5 30 29,5 29 28,5 28 27,5 27 26,5 26 25,5 25 24,5 24 23,5 23 22,5 22 21,5 21 20,5 20 19,5 19 18,5 18

1 2 3 4 5 6 7 8 1 /a 1/o 2/a 2/o 3/a 3/o 4/a
BMI

In parallel were trained the specialists interested in rehabilitation: physicians, physiotherapists, psychologists, nurses, carriers, social workers.

1 PT special PWS professional project 2 PT case report

PWS Conference Zalau

Per aspera ad astra!

THANK YOU !

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