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Bdfa-uk.org.uk

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

Source: http://www.bdfa-uk.org.uk/sites/default/files/Infantile%20leaflet.pdf

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