Empowering children with mitochondrial myopathy in dealing with fatigue.

Mitochondrial myopathies are heterogeneous in clinical expression, with an
unpredictable course ranging from mild to lethal. The disease is often
hereditary and the expression can vary from very mild to life threatening
pathology. This means children with mitochondrial myopathy and their parents
have to deal with uncertainty about the nature and course of the disease.
Currently no cure or substantially alleviating therapy is available for these
disorders and care is focused on alleviating the broad range of symptoms of the
disease. Fatigue is reported as the most burdensome complaint, also affecting
quality of life. It results in more school absence which influences their
social participation. There are no disease-related interventions to support
these patients.
Because of the heterogeneity in genotype and fenotype there are not many
systematic studies to investigate the impact of the disease on quality of life.
Research is currently ongoing to develop medication that might cure the disease
or positively influence the course of the disease. However, developing
medication like this takes time. For now, children and parents will still be
confronted with the complaints of this disease and no sufficient treatment.

The PowerMe study will analyse fatigue characteristics and severity in children
and adolescents with mitochondrial myopathy and their families. Then a blended
personalized cognitive behaviour therapy program for fatigue will be designed
and tested, encompassing several treatment modules. This will result in an
individualized self-management intervention that is tailored to their personal
goals and their personal fatigue and quality of life profile as measured in
questionnaires. Parents will go through a parallel program, to support their
children during the intervention.

Ten patients will be enrolled in ten single-case experiments, participating in
an intervention period preceded by a random time frame waiting period, and as
such serving as their own control.
A single-case experiment (SCE) is a rigorous, scientific methodology used to
define basic principles of behaviour. Because SCEs documents experimental
control within one case, it is an approach, like randomized-control group
designs, that can be used to establish evidence-based practices. SCEs are
experimental rather than correlational or descriptive, and its purpose is to
document causal relationships between independent and dependent variables
within one case. It employs within- and between-subject comparisons to control
for treats to internal validity and requires replication to enhance external
validity. Single-case designs are particularly useful in children with rare
diseases when studying rare conditions and large samples are difficult to
obtain; results also have direct applicability to healthcare professionals. In
addition, interventions could be more optimally adjusted to individual
patients.

Participants will receive blended cognitive behavioral therapy (CBT) for
fatigue in addition to care as usual. The PowerMe intervention covers a period
of 4 months in which the patient will have 8 moments of contact with a
therapist (three face-to-face sessions and five e-consultations via face-time
of 1 hour) with simultaneous use of online treatment modules of the interactive
self-management website. Children from 8 to 12 will follow the program with
their parents, children from age 12 will follow the program individually with
parents following a parallel program. The CBT will be given by trained and
experienced therapists working at the department of Medical Psychology, section
children and youth, Radboud university medical center (RadboudUMC). They are
specialized in working with children, adolescents and their parents.

The PowerMe program is a personalized cognitive behavior therapy program for
fatigue encompassing several treatment modules. All participants will start
with setting their personal treatment goals. Then, they will work on the
fatigue-perpetuating factors that are applicable to them, for example coping
with disease aspects, dealing with emotional complaints, and learning adaptive
social skills. Each of these fatigue-perpetuating factors will coincide with
specific treatment modules. At baseline assessment, it is decided which modules
are relevant for each participant and the intervention will be tailored to the
participants* specific needs. Finally, all participants complete the therapy by
realizing their treatment goals.

All parents will follow a parallel program in which they can access their own
portal on the website where they can access the module*s content of the child
modules, psycho-education, and an e-consult application. Parents will have
e-mail contact with the therapist wherein results so far will be discussed and
assignments can be given. Patients and parents will have separate accounts with
unique usernames and passwords, ensuring confidentiality in communication with
the therapist. The parents of patients in the age group 8 to 12 years are
working together with their child, whereas parents of older patients will be
asked to encourage their children to take responsibility for their treatment.
Tips and tricks will be given on how to support their child. They also have
access to a library with relevant information for parents of a child with
mitochondrial disease.

There are no or only minimal risks involved in participating in the CBT
intervention. The burden is limited and consists of a blended CBT program of 4
months, including extra travelling for 3 sessions, and an online intervention
with home-work assignments. During the complete study period patients will
complete a short weekly questionnaire. Several other questionnaires are filled
out at baseline, post and follow-up measurement. Completing the questionnaires
is without risks and the burden is limited. There are substantial potential
benefits for participants, as CBT already proved to be a highly effective
intervention in reducing fatigue and disabilities for several patient groups
and it is likely that patients with mitochondrial disease will also profit and
become better in dealing with fatigued. The research cannot be done without
participation of this patient group.