Measuring physical capacity, musculoskeletal complaints, and physical and psychosocial functioning in children and adolescents with connective tissue disorders.

A connective tissue disorder (CTD) is group-name for diseases that are
generally characterized by systemic problems affecting cardiovascular,
muscular, and pulmonary systems, as well as joint hypermobility, skin hyper
extensibility, and tissue fragility. Three well-known types of CTD*s are
Ehlers-Danlos Syndromes (EDS), Marfan syndrome (MFS) and Loeys-Dietz syndrome
(LDS). The incidence is low, approximately 1-3 per 10,000 children will be
diagnosed with a CTD.

Health problems related to the disease can be diverse and have major
consequences for physical, social and psychosocial functioning and the
health-related quality of life. Hypermobility of joints in children will often
result in injuries and pain. This can lead to lower physical activity,
increased absenteeism and reduced physical and psychosocial functioning.
Together, the disease has a major impact on the life of the child and his
family. That is why specialist care and supervision are necessary. At five
locations in the Netherlands, including the Amsterdam UMC, location AMC, there
are specialist teams that take care of children, adolescents and adults with
MFS and LDS. But current monitoring and supervision focuses primarily on the
direct disease effects (eye and heart) and possibly are not sufficient enough
on more indirect effects.

In a previously performed survey among a large group of children with CTD, the
impact of the disease was investigated in an online survey. Data on physical
and psychosocial complaints and functioning, as well as family functioning and
health-care use were analyzed per disease group, age and gender. From the
results we selected important topics to be included in a new, smart developed,
test battery to assess musculoskeletal complaints, physical capacity and
physical performance as well as physical and psychosocial functioning.

To objectively determine the severity of CTD related physical impairments,
complaints and difficulties during participation in daily life activities. An
additional study objective is:
- To determine risk factors for the development of health problems and severity
of complaints

This study is a prospective observational study, with a nine-month follow-up.
In total, 75 to 100 Dutch, and 50 Belgium children with CTD will be included in
de study. Children will be assessed on their musculoskeletal complaints,
physical capacity and physical performance as well as psychological and social
functioning.

There will be a low risk for study related burden. The impact of the physical
tests can be compared with a general gym class at school.
Screening results might indicate need for additonal health care; when needed
and wanted children will be refered to pediatric specialist. In addition, for
each participant, future benefits after improvement of CTD complain screening
and delivered healthcare is possible.