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

Duchenne muscular dystrophy (DMD) is an X-linked hereditary progressive muscle
disorder. In DMD, the dystrophin protein is absent, leading to
contraction-induced muscle damage. On average, non-treated DMD patients become
wheelchair-bound at the age of 10 and die at their twenties due to respiratory
failure or cardiomyopathy. In Becker muscular dystrophy (BMD) the dystrophin
mutation leads to a shorten, partially functional dystrophin protein. The
clinical presentation of BMD is therefore milder than DMD, ranging from
patients becoming wheelchair around the age of 16 and die at late-middle age to
patients who remain ambulant having normal life-span. Unfortunately, at date no
therapy for DMD and BMD is present.
The last decades, several developments of care consideration for DMD patients
have been taken place. In addition to general improvements, like vaccination,
antibiotics, the use of corticosteroids and the start of home ventilation have
been important developments that have contributed to a longer mobility and
survival for boys with Duchenne. Since 2010, international multidisciplinary
guidelines have been made available (and an update was published in 2018),
which describes the minimum care for boys with DMD. However, a recent study
shows that the healthcare in England, Germany, Italy and the USA partly does
not comply with these international guideline. The extent of compliance to the
care guidelines in the Netherlands and the health status of boys and men with
DMD is unknown. Potentially, lower health status influences the daily
functioning. Therefore, it is important to optimize care and health.
In addition to the physical problems, boys/men with DMD and BMD also experience
learning and behavioral disorders, such as dyslexia, autism spectrum disorders
(ASD), obsessive compulsive disorder (OCD) and attention deficit disorder
(ADHD). Recent studies have shown that these disorders may be caused by no
and/or reduced presence of dystrophin in the brain, such as the Dp140
dystrophin isoform. Behavior and learning disorders can have important
consequences for the everyday functioning of these boys and men. With improved
care, longer survival rates and increasing future perspectives, it is important
that behavioral and learning disorders are systematically diagnosed and treated
in these boys/men with DMD and BMD. Because longitudinal research in this
patient population is lacking, the course of these learning and behavioral
disorders over time is (also) not yet clear.

1. Inventory of the current care of boys/men with Duchenne Muscular Dystrophy
in the Netherlands: To establish the extent of implementation of the
international guidelines and its updates in the Netherlands and to explore the
relationship between given care, health status, social participation and
quality of life.

2. Prevalence of learning and behavioral disorders from a longitudinal
perspective in relation to type of muscular dystrophy (Duchenne or Becker) and
in relation to the genotype (presence of Dp140 expression, and possible other
mutations).

A descriptive longitudinal study in patients with Duchenne or Becker muscular
dystrophy.
Digital questionnaires will be used to make an inventory of the extent of
implementation of the international guideline and its updates
in the Netherlands and the prevalence of specific behavioral and learning
problems, the degree of psychosocial adjustment, personality aspects and
correlation with the genetic defect.

If the patient and/or the parent (s)/ carer giver (s) (when boys <18 years old)
provide consent, they will receive both in year one and year three digital
questionnaires. Completing the questionnaires will take a time investment of
approximately 40-60 minutes for both the parent as well as fior the patient.
Based on the results of the questionnaire, telephone contact can be made to
discuss any questions/uncertainties.

A direct therapeutic benefit is not to be expected.
No invasive procedures are performed during the study.

This research will provide insight
1. The extent of compliance to the care guidelines in the Netherlands
2. The prevelance of bahavior and learning problems in boys/men with Duchenne
and Becker muscular dystrophy.

This study will provide insight/ an overview of the current care of patients
with Duchenne and Becker muscle dystrophy. With these results care can be
improved in the Netherlands