Optimal care for Duchenne and Becker muscular dystrophy: Learning, behavior and careful care

Optimal care for Duchenne and Becker muscular dystrophy: Learning, behavior and careful care - Optimal care for Dystrophinopathies

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON46818

Enrollment

131

Registered

2018-10-11

Start date

2018-10-01

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

DMD&BMD Duchenne and Becker muscular dystrophy Dystrophinopathy

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Progressive muscle weakness - Confirmed diagnosis of dystrophinopathy: defined mutation in the dystrophin gene and / or either reduced or lack of dystrophin levels in a muscle biopsy - Age > 4 years - Dutch as mother tongue

Exclusion criteria

Exclusion criteria: - No informed consent

Design outcomes

Primary

Measure	Time frame
- Percentage in which the international guideline of 2010 is followed; the diagnosis, hereditary advice, the frequency of medical examinations and rehabilitation treatments - Inventory of the suggestions made by patients themselves, their parents and/or their caregivers to improve care - After implementation of the updated guideline: The percentages in which this guideline is followed with regard to, among other things, the diagnosis, hereditary advice, the frequency of performing medical examinations and rehabilitation treatments - The prevalence (%) of learning problems (automating reading and arithmetic, working memory and executive thinking functions) in a prospective longitudinal design - The prevalence (%) of behavioral problems (ADHD - OCD - ASS) in a prospective longitudinal design - The prevalence (%) of the degree of dysfunctional psychosocial adaptation in a prospective longitudinal design - Relationship between learning problems, longitudinally assessed (automating reading and arithmetic, working memory and executive thinking functions), the genotype (Dp140 expression) and type of muscular dystrophy (Duchenne or Becker). Covariation will be checked as well: personality (PLOT questionnaire). - Relationship between longitudinally measured behavioral problems (ADHD, OCD, ASD), degree of psychosocial adjustment, the genotype (Dp140 expression) and type of muscular dystrophy (Duchenne or Becker). Covariation will be checked as well: personality (PLOT outcome).	—

Measure

Time frame

- Percentage in which the international guideline of 2010 is followed; the diagnosis, hereditary advice, the frequency of medical examinations and rehabilitation treatments - Inventory of the suggestions made by patients themselves, their parents and/or their caregivers to improve care - After implementation of the updated guideline: The percentages in which this guideline is followed with regard to, among other things, the diagnosis, hereditary advice, the frequency of performing medical examinations and rehabilitation treatments - The prevalence (%) of learning problems (automating reading and arithmetic, working memory and executive thinking functions) in a prospective longitudinal design - The prevalence (%) of behavioral problems (ADHD - OCD - ASS) in a prospective longitudinal design - The prevalence (%) of the degree of dysfunctional psychosocial adaptation in a prospective longitudinal design - Relationship between learning problems, longitudinally assessed (automating reading and arithmetic, working memory and executive thinking functions), the genotype (Dp140 expression) and type of muscular dystrophy (Duchenne or Becker). Covariation will be checked as well: personality (PLOT questionnaire). - Relationship between longitudinally measured behavioral problems (ADHD, OCD, ASD), degree of psychosocial adjustment, the genotype (Dp140 expression) and type of muscular dystrophy (Duchenne or Becker). Covariation will be checked as well: personality (PLOT outcome).

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Countries

Netherlands

Outcome results