A European Study to identify the needs of individuals and families affected by Juvenile Huntington's Disease

Huntington*s Disease (HD) is an inherited neurodegenerative condition, for
which there is currently no cure and management is by way of symptomatic
treatment and support only. Individuals with HD develop a number of symptoms,
including a movement disorder, cognitive dysfunction and affective
disturbance. HD is typically a late-onset disorder, with many individuals
developing the condition between the ages of 30-50 years (Kremer, 2002),
although the age at onset varies greatly and it can affect children and
teenagers. Juvenile-onset HD (JHD) has been defined arbitrarily as having an
onset occurring under 20 years (Bruyn, 1968). The youngest symptomatic child
reported in the literature had an age of onset of 2 years (Nance et al., 1999),
while some individuals with JHD may now be over 20 years old although having
developed symptoms while they were still in the teenage years. HD is a
life-limiting condition, usually lasting 15-20 years from onset (Kremer, 2002).

Huntington*s Disease affects between 7 and 10 in every 100,000 (Harper,
2002). The proportion of individuals with JHD in previous surveys has varied
between 1-10% of those affected by HD (Hayden, 1981) and it is therefore a rare
condition. In young people with JHD the clinical presentation varies from that
seen in adults, and patients with JHD are more likely to present with a failure
at school or behavioural disturbance. Clumsiness and unsteadiness in gait as
well as rigidity are often the early predominant motor abnormalities seen in
children with JHD, with the choreic movements (involuntary, dance-like
movements) often seen in adult-onset HD being less common (Nance, 1997). They
are also more likely to develop epilepsy (Brackenridge, 1980). In about 75% of
cases of JHD the affected parent was the father, although males and females are
affected equally by JHD (Telenius et al., 1993), and this means that in many
cases the sole carer is the mother.

As a condition JHD is generally less well-recognised than HD, and as such even
less is known about it and the impact it has on the individual and their
family. There have been very few studies that have focused on JHD and, until
recently, there have none that have considered psychosocial issues arising from
the condition. An awareness of the psychosocial impact is particularly
important where there is currently little possibility of a cure. The
Huntington*s Disease Association in the UK (HDA) recently carried out research
looking at the impact of JHD on the family. Semi-structured interviews were
carried out with twelve parent/guardian carers of young people with JHD and a
number of issues were identified, meaning that more appropriate services could
be developed for this group (Smith et al., 2006; Brewer et al., in press). In
particular, families highlighted how their experience and their needs were
different from that of those affected by adult-onset HD in a number of ways
(Brewer et al., under submission). This suggests that studies which focus on
the experiences of this group may be particularly relevant. However, given the
small number of participants included in the research in the UK, questions
still remain as to whether the experiences of these families can be generalised
to other countries and other cultural groups.

A European Huntington*s Disease Network (EHDN) has recently been established
(www.euro-hd.net). This network has been developed to establish links between
clinicians/researchers with an interest in HD and families affected by the
condition across Europe, in an attempt to provide the infrastructure for HD
research across Europe. As part of this network a number of working groups
have been formed, including one focused on JHD. EHDN and the working group
provide the opportunity to extend the UK project further within Europe. This
research will give us further information about the psychosocial impact of this
rare condition. In particular, it will enable the experiences of families from
a variety of countries across Europe and from different cultural backgrounds to
be elicited. In addition, the experiences and views of a larger number of
families will be collected, which will enable more generalised statements about
the issues affecting this group to be made.

identification of the needs of families with juvenile Huntington's disease

explorative interview study

none