Education
above that which a healthy child of the same
in the early stages of the illness, often before
age would need. Just because a child has a
the correct diagnosis has been made, it is
particular disease does not mean that the
recognised that there is going to be some
application will automatically be successful,
each case is judged on its merits. There is an
most families find this very difficult and
appeals process if the claim is unsuccessful.
upsetting. at a time when the realisation is
sinking in that their son or daughter isn't
Introduction and Terminology The idea behind producing This leafleT is To provide families and The people around
if a parent has to care for the child for more
going to be "oK" and will need a lot of
Them wiTh an overview of The illness. our undersTanding of whaT causes The illness is growing rapidly and This leafleT
than 16 hours per day and the child receives
extra help to make progress at school, they
Tries To explain The science in an easy To comprehend way.
often find many bureaucratic obstacles to
Invalid Carers Allowance.
overcome to get the help they feel their child needs. in trying to get through the process
The terminology is confusing; this is mainly
to similar clinical symptoms. all the batten
further advice can be obtained from a social
of "statementing", parents need a lot of
because what we call batten disease is in
disease proteins seem to be involved with
worker, the citizens’ advice bureau or the
guidance, understanding and support.
fact several different genetic illnesses each
the function of the lysosome – this is a tiny
with a different gene defect. They do however,
part of a cell that is involved in breaking
“statementing” is the process where the
have a lot of similar features. Traditionally,
down and recycling certain chemicals in the
Equipment
child becomes the subject of a Statement
the different types of “batten disease” were
cell. when this process doesn’t work properly,
as the illness progresses, various kinds of
of Educational Needs. This is a formal
classified according to the age of the child
there is a build up of substances that aren’t
document drawn up by the local education
when the illness began, so we have infantile,
authority, based on advice from the health
late infantile and Juvenile batten disease for
professional and other professionals involved
example - with the illness seeming to start at
– usually at least a community paediatrician
around 1, 3 and 7 years of age respectively.
and an educational psychologist. it describes
breaking down and recycling proteins in the
• protective headwear for when the child is
the child’s educational needs and makes
as our understanding at the level of molecular
lysosomes. enzymes are often able to move
are carriers of the disease. child a has 2
genetics has increased, things have become
inside and between cells. some of the other
normal genes so does not have the disease,
• postural splints for the torso or limbs
more complex. The batten disease group of
genes code for proteins which are stuck in
child d has 2 abnormal genes so does have
illnesses now tend to be referred to as the
the disease, children b and c have one normal
provided often fall short of the resources
Neuronal Ceroid Lipofuscinoses (NCL’s).
and one abnormal gene – they do not have
needed. adequate schooling is a field where
This term describes the abnormal appearance
the illness but will be carriers. on average one
considerable experience exists with bdfa.
of affected cells as seen down a microscope.
How are NCLs inherited?
in four (25%) of these parents’ children will
we also now recognise that there are more
apart from some very rare types, the ncls
be normal, one in four (25%) will have the
types of the illness than the infantile, late
are inherited in an “autosomal recessive”
disease and two in four (50%) will not have
infantile and Juvenile types etc, there are some
fashion. autosomal means that the abnormal the disease but will be carriers.
less common “variant” types. some of these
gene is carried on the normal chromosomes
are quite rare and only occur in significant
as opposed to the “sex” chromosomes – this
means that the illness has nothing to do with
The ease or difficulty of obtaining these
gender. (some illnesses are carried on the sex
items and resources varies greatly around the
Molecular Genetics
chromosomes and are said to be sex-linked
country, but all should be available without
and principally affect either males or females
genes, all of which code for proteins. nine
- such as colour blindness or haemophilia).
equipment provision may be means tested.
different genes causing different varieties of ncl have been identified so far. They are
does not lead to an affected individual if he
name given to a theoretical gene causing
or she has a normal gene as well, we each
adult onset batten disease. it has not yet been
have a pair of genes – one from each parent.
identified.) The nine genes are different and
if both genes are normal the individual would if only one of the parents is a carrier as in the
so are the abnormal proteins, but all result in
clearly not have the disease, if a person has
diagram above (fig 2), there are no diseased
This leaflet is for basic information only; any decisions regarding an individual child should be done through the appropriate medical services. some of the information
similar disturbances of cell function and lead
children but 50% will be carriers (on average),
in this leaflet is based on the chapter on classic late infantile ncl by dr re williams et al in The neuronal ceroid lipofuscinoses,
that individual would not have the disease
this explains how the gene can be passed
goebel, mole & lake (eds), ios press 1999 and 2008 and is used with permission.
(but would be a carrier and could pass the
down family trees from our ancestors for many
gene on to his or her child) but if a person
generations without it being expressed as an
batten disease family association, 2008
has two abnormal genes he or she will have
affected individual until bad luck brings two
carriers together. when this happens as shown above, each child this couple has will have
bdfa, po box 504, fleet, hampshire gu51 9ge Tel: 01233 639526
The diagram above (fig 1) tries to illustrate
a one in four chance of being affected by
email: support@bdfa-org.uk www.bdfa-uk.org.uk
updated by r griffith rgn, dr r e williams and dr s mole
B r i n g i n g l i g h t t o B a t t e n ' s
together at conception when both parents
www.bdfa-uk.org.uk www.bdfa-uk.org.uk Classical Infantile onset NCL
developmental regression [loss of skills e.g.
brain tissue], but a normal scan does not
possibility of younger siblings who may also
classical infantile ncl is due to a mutation
speech, coordination, continence]. These
become apparent around this time or within
the onset of symptoms but destined to get
a few months. ataxia [clumsiness] increases
3. Biochemical tests
the disease]. in addition, the question of
the gene is meant to make. This enzyme (a
as motor skills decline. abnormal limb and
future pregnancies and prenatal diagnosis
kind of protein) is called palmitoyl protein
which measures the amount of the deficient
may arise. once the diagnosis is certain,
thioesterase 1 (ppT1). The lack of adequate
spasticity (continued muscle contraction
enzyme ppT1. This is low in children with
amounts of ppT1 leads to the build up of
and exaggerated reflexes). epileptic seizures
for siblings using blood samples. prenatal
waste products in the cell which somehow
of various kinds can occur but tend to be
diagnosis is usually available and based
leads to cell death. These accumulations
mainly myoclonic [jerks]. feeding becomes
Treatment
on genetic testing of the baby very early
of materials can be seen with an electron
more difficult with resulting poor weight
Therapy for children with classic incl is
in pregnancy. The idea of prenatal testing
gain and frequent symptoms of aspiration
essentially supportive. psychological support
[difficulty coordinating swallowing with
around the time of diagnosis, and as the
would be affected by batten disease then a
subsequent coughing / choking, food &
termination of pregnancy [abortion] can be
wide, many of them in finland. The highest
drink “going down the wrong way”]. most
healthy siblings is important. families should
considered. early advice from local clinical
children now receive nutritional support
be given contact addresses for local parent
finland, where the carrier frequency is 1 in
using a nasogastric or gastrostomy tube.
70 and the incidence in the population is 1
Family Aspects
plenty of time needs to be given for parents
in 20,000. The incidence outside finland is
in spite of this inexorable deterioration in
from the time parents detect that their son
to come to terms with needing this. it takes
all faculties, children with incl are not in a
the first stage onwards throughout life. The
or daughter is not developing properly, the
time and sensitive care to bring families to a
neuronal ceroid lipofuscinosis cases in the
vegetative stage but are able to smile, laugh
first used drug is usually baclofen which is
family will need support. sadly - probably
stage where they can feel safe handing over
and enjoy the presence of familiar people
used for muscle spasms. The antiepileptic
because of the vagueness of the early clinical the care of their child even for a short period
and music. if the medication is adequate
drugs of choice are valproate, clonazepam
features - parents are often reassured that
of time. paediatric health facilities and or
these abilities are preserved until death,
there isn't a problem and their worries are
children’s hospices may be available locally
which usually takes place at the age of 8-13
necessary to use high doses of baclofen in
minimised, they are left feeling that they are
or in the home for the families. hospices
onset, sometimes as late as mid teens/early
later years and it is sometimes necessary to
worrying too much. This seems to be quite
– both adult and children’s can still carry
administer the medication 3-5 times (daily)
a stigma associated with use only at the
Investigations
with regular intervals night and day. in
terms of the relationship between the family
end stages of life, however, most children’s
Age at Onset and First Symptoms
hospices are able to offer specialised and
The child seems to progress normally initially. neurophysiology tests, samples for
of the disease, a fentanyl patch and orally
earlier respite and emotional support to
microscopy (biopsy - usually skin [taken from
motor and or mental development of their
perhaps the arm under local anaesthetic])
been of great help in addition to the other
involved will vary between cases and depend
children until the age of 10 to 18 months.
Financial Support
now also be collected for enzyme assay; this
the child and family at any one time, the
to decrease in several children as early as
can now give the diagnosis without the need
rate at which the illness is progressing,
one or both parents often have to sacrifice
for a biopsy. whilst the list of biopsy samples
mouth care is essential, with professional
the level of existing care and support from
their career to care for their child. some
does not include a rectal biopsy, this may be
family and friends. The professionals usually
benefits are available, these include the
the onset of the disease. hyper excitability
preferred by some pathologists in place of
occupational therapists. chest physiotherapy
following. disability living allowance (dla)
[being unsettled, including sleep problems],
of the primary health care team - health
is a benefit that is available to people if
muscular hypotonia [floppiness] and lack of
clear infections. most children will require
visitor, district nurse; paediatrician (and / or
normal development in the fine motor skills
1. Neurophysiology
paediatric neurologist), specialist paediatric
being cared for at home. Disability Living
are additional early signs. in the majority of
community nursing, children's hospice staff,
Allowance (DLA) comprises two benefits;
children with incl, the normal development
waves” with electrodes on the scalp; this is
nasogastric tube or gastrostomy tube makes
social worker, agencies such as crossroads
care allowance and mobility allowance
begins to slow down during the second year
not painful and doesn’t usually cause any
etc. There will be important involvement with which is applicable from the age of 3. To get
of life. until that time the children seem to
distress. There are various tests in this area
education personnel from special nursery
a blue disability vehicle badge, which is valid
and include an electro-encephalogram (eeg),
require medication or surgery (e.g. nissan's
schools and input from specialist teachers for throughout the e.u., the child would usually
"easy" children still learning new skills. but
electro-retinogram (erg) and visual evoked
have to qualify for mobility allowance i.e. be
a careful examination often reveals muscular potentials (vep).
3 or older although it is sometimes possible
hypotonia, clumsiness in fine motor control
research is continuing into ways to treat or
given the appropriate level of professional
2. Neuroradiology
slow down the disease, e.g. gene therapy
support around the family - it is important
can sometimes be used for the motobility
where the normal gene is reintroduced back
that parents should be encouraged to take
There is quite a lot of variation in how
into the cells & tissues and enzyme therapy
some control of their situation; for the
different stages of the illness progress
where the defective or missing enzyme [kind
services around to include them in decisions
sometimes be used to lease or hire a vehicle
but there is a gradual slowing of normal
and plans of action; and for the families'
through the motability vehicle scheme see
milestones and eventually a loss of skills
found in classic infantile ncl are relatively
www.motability.co.uk & www.direct.gov.uk
that have been acquired. loss of vision tends non-specific, and the value of imaging lies
Genetic Considerations
to start at around 18 months and usually
mainly in excluding other causes. early in the
because the diagnosis of classic infantile
packages of care provided by the authorities,
progresses fairly rapidly. alongside this is
course of the disease there is mild cerebral
it is important to realise that dla criteria
deterioration in mental functions, there is
atrophy [generalised shrinkage or loss of
18 months to two years old, there is the
supported thoroughly, by appropriate giving
apply to the level of disability and the level
www.bdfa-uk.org.uk
The following is a list of the most commonly prescribed drugs. It represents an abbreviatedversion of the drug list (formulary) that is at the core of your prescription-drug benefit plan. The list is not all-inclusive and does not guarantee coverage. In addition to using this list,you are encouraged to ask your doctor to prescribe generic drugs whenever appropriate. 2012 Express Scripts PLEAS
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Education
Classical Infantile onset NCL