Glossary
Plain-English meanings of the words, letters and acronyms UK PURA families often hear. Information only, not medical advice.
- 57 terms
- Sources: NHS, GOV.UK and UK charities
- AAC also: Augmentative and alternative communication
Any way of communicating other than speech. It ranges from signing, gestures and picture boards to tablets and eye-gaze devices. Many children use several kinds at once.
- Adult Disability Payment also: ADP
Scotland's disability benefit for people aged 16 to State Pension age. It has replaced PIP for people living in Scotland. Young people on Child Disability Payment can apply from 13 weeks before their 16th birthday up to their 18th birthday. The move is not automatic.
- Adults with Incapacity Act and guardianship (Scotland) also: Guardianship order, AWI
Scotland's capacity law. Someone with capacity can grant a continuing or welfare power of attorney. If that isn't possible, a family member can apply to court for a guardianship order. An application can be made 3 months before the 16th birthday.
- Annual health check (learning disability) also: Learning disability health check
A free yearly health check for people with a learning disability. In England it is from age 14 for people on the GP learning disability register, and in Scotland from 16. Wales offers it to adults on the register. In Northern Ireland, ask your GP practice.
- Appointee
Someone, often a parent, who is given permission to manage a person's benefits for them when they can't manage them themselves.
- Best-interests decision also: Best interests
Under the Mental Capacity Act in England and Wales, any decision made for someone who lacks capacity must be in their best interests. That means considering their wishes and feelings and talking to the people close to them.
- Blue Badge
A parking permit for disabled people, including children who meet the criteria. You apply through your local council.
- Carer's Allowance
A weekly benefit for someone who spends at least 35 hours a week caring for a person who gets certain disability benefits, such as the middle or highest care rate of DLA. There are earnings and other rules. Scotland has Carer Support Payment instead.
- Carer's assessment
A free assessment from your local council that looks at what support you need as a carer, such as breaks or help at home. It is separate from your child's own assessment.
- Carer's Credit
A National Insurance credit for carers who look after someone for at least 20 hours a week. It helps protect your State Pension record. It is not a cash payment.
- CHC (NHS Continuing Healthcare) also: NHS Continuing Healthcare, Continuing NHS Healthcare
A package of care fully funded by the NHS for adults whose main need is for health care. England and Wales each have their own framework. Scotland uses Hospital Based Complex Clinical Care instead. In Northern Ireland, ask your Health and Social Care Trust.
- Child Disability Payment also: CDP
The Scottish benefit that replaces DLA for children who live in Scotland. It is run by Social Security Scotland and usually continues until 18, unless the young person moves to Adult Disability Payment first.
- Children's continuing care also: Continuing care for children
Extra NHS-funded care for children and young people with complex health needs that standard services can't meet. Adults have different schemes, which vary by nation (see CHC). Your child's health team can ask for an assessment.
- Children's hospice
A service for children with life-limiting or complex conditions and their families. Alongside end-of-life care, many offer short breaks, sibling support and family activities, often for many years.
- Constipation
Pooing less often than usual, or finding it hard or painful. It is common in children with low muscle tone and limited mobility. Talk to your GP or your child's team about it.
- CSP, IDP and statements (Scotland, Wales, NI) also: Co-ordinated Support Plan, Individual Development Plan, Statement of special educational needs
The other UK nations use different systems from England's EHCP. Scotland has Co-ordinated Support Plans under its additional support for learning system. Wales has Individual Development Plans for additional learning needs (ALN). Northern Ireland still uses statements of special educational needs. Unlike an EHCP, a CSP or statement generally ends when a young person leaves school, while Welsh IDPs can run to 25.
- De novo
A genetic change that appears for the first time in a child and was not passed on from either parent. GeneReviews reports that most PURA syndrome changes are de novo. A genetics team can explain what this means for your family.
- Deputyship also: Deputy, Court of Protection
In England and Wales, if an adult can't make certain decisions and has no LPA, the Court of Protection can appoint a deputy, often a family member, to make those decisions for them.
- Dietitian
A registered health professional who advises on nutrition, growth and feeding plans, including tube feeding. In the UK, 'dietitian' is a protected title.
- Disabled Facilities Grant also: DFG
A council grant towards changes to your home, such as a ramp, a downstairs bathroom or a ceiling hoist. In England, grants for disabled children aren't means-tested. Rules differ in Wales and Northern Ireland, and Scotland has a different scheme.
- DLA also: Disability Living Allowance
Disability Living Allowance for children under 16 who need much more care or supervision than other children their age, or who have mobility needs. It isn't means-tested. In Scotland it has been replaced by Child Disability Payment.
- Dysphagia also: Swallowing difficulty
The medical word for difficulty swallowing food, drink or saliva. Speech and language therapists assess and support swallowing.
- EEG also: Electroencephalogram
A test that records the brain's electrical activity using small sensors stuck to the scalp. It is often used when doctors are looking into seizures.
- EHC needs assessment
The legal assessment a council in England carries out to decide whether a child needs an EHC plan. Parents can ask for one directly, and the council must decide within 6 weeks whether to assess.
- EHCP also: Education, health and care plan, EHC plan
A legal document in England, for children and young people up to 25 who need more support than a school or nursery normally provides. It sets out their needs and the support they must get.
- Enduring power of attorney (Northern Ireland) also: EPA
In Northern Ireland, an enduring power of attorney lets someone manage another person's money and property. It does not cover health and welfare decisions. It must be made while the person has capacity.
- Epilepsy also: Seizures
A condition where a person has repeated seizures, caused by bursts of electrical activity in the brain. Seizures can look very different from child to child. Your child's doctors will give you a plan for what to do.
- Eye gaze
A type of AAC where a camera tracks where your child is looking, so they can choose words or symbols on a screen with their eyes.
- Gastrostomy (PEG) and tube feeding also: PEG, G-tube, NG tube
Ways of giving food, fluid and medicine through a tube when eating by mouth isn't enough or isn't safe. An NG (nasogastric) tube goes through the nose into the stomach. A gastrostomy goes directly into the stomach through the tummy. A PEG is one way of placing a gastrostomy.
- Genetic and genomic testing also: Whole genome sequencing, WGS, Exome sequencing
Tests that look at a person's genes or whole genome to find a cause for their symptoms. PURA syndrome is usually diagnosed this way. NHS genomic testing is arranged through specialist genetics services.
- Genetic counselling
An appointment with a genetics specialist who explains a genetic diagnosis, what it might mean for your child and family, and any chance of it happening again in a future pregnancy.
- Hospital passport
A short document that tells hospital staff about a person with a learning disability: their health needs, how they communicate, and the adjustments that help.
- Hypotonia also: Low muscle tone
Low muscle tone, which can make a baby or child feel floppy. It can affect head control, sitting, feeding and breathing. Physiotherapists and OTs often help with positioning and movement.
- Learning disability register also: LD register
A list kept by GP practices of patients with a learning disability. Being on it can help with reasonable adjustments and invitations to annual health checks.
- Local Offer
Every council in England must publish a 'Local Offer' that sets out the education, health and care services available for children and young people with SEND in its area. It is usually on the council's website.
- LPA (Lasting Power of Attorney) also: Lasting Power of Attorney
A legal document in England and Wales that lets someone aged 18 or over, who has capacity, choose people to make decisions for them later. It can cover health and welfare, or money and property. Scotland and Northern Ireland have different powers of attorney.
- Makaton
A language programme that uses signs and symbols alongside speech. It is widely used in UK nurseries, schools and on children's TV.
- Mental Capacity Act also: MCA
The law in England and Wales on making decisions for people aged 16 and over who can't make a particular decision themselves. People must be supported to decide for themselves where possible. Scotland has the Adults with Incapacity Act, and Northern Ireland has its own Mental Capacity Act (NI) 2016, which is being brought in in stages.
- Natural history study
Research that follows people with a condition over time to understand how it usually develops. Studies like this help researchers prepare for future clinical trials.
- Needs assessment (adult social care) also: Care and support assessment, Assessment of need
A free assessment of the help an adult needs with daily life. In England and Wales it is done by the council, in Scotland by council social work services, and in Northern Ireland by your Health and Social Care Trust.
- NHS Genomic Medicine Service also: GMS
The NHS service in England that provides genomic testing as part of routine care, including whole genome sequencing for some rare conditions. Wales, Scotland and Northern Ireland have their own regional genetics services.
- Oliver McGowan training also: Oliver McGowan Mandatory Training
The recommended training on learning disability and autism for health and social care staff in England. The Health and Care Act 2022 requires CQC-registered providers to train their staff.
- OT also: Occupational therapy, Occupational therapist
Occupational therapists help children take part in everyday life: play, sitting, dressing, bathing, school and sleep. They often advise on equipment and changes to the home.
- Patient registry
A secure database where families enter information about a condition over time. The free PURA Syndrome Patient Registry helps researchers understand PURA and prepare for trials.
- Personal budget and direct payments also: Direct payments, Personal health budget
An amount of money from the council (or the NHS, for a personal health budget) to meet assessed needs. Direct payments let you arrange the support yourself, for example by employing a carer.
- Physiotherapy also: Physio
Physiotherapists help with movement, posture, strength and breathing. For children with low muscle tone they often focus on head control, sitting, standing and positioning.
- PIP also: Personal Independence Payment, PIP transition
Personal Independence Payment, the adult disability benefit in England, Wales and Northern Ireland. Child DLA usually ends at 16, and the young person is invited to apply for PIP. In Scotland, Adult Disability Payment has replaced PIP.
- Portage
A free home-visiting early education service in many areas for pre-school children with additional needs, run with the family through play.
- PURA syndrome also: PURA-related neurodevelopmental disorder, PURA-NDD
A rare genetic condition caused by changes in the PURA gene on chromosome 5. It affects development, and every child is different. Features often include low muscle tone, feeding difficulties and delayed speech and movement, and many children have seizures.
- 5q31.3 deletion also: 5q31 deletion
A small missing piece of chromosome 5 (in the region called 5q31.3) that includes the PURA gene. Children with this deletion can have features similar to PURA syndrome, and some PURA groups support both.
- Reflux also: GORD, Gastro-oesophageal reflux
When stomach contents come back up into the food pipe or mouth. It is common in babies, and can be more of a problem in children with low muscle tone. Ask your GP or child's team if you're worried.
- Respite and short breaks also: Short breaks
Time off from caring, while your child is looked after by someone else at home, at a club or at a hospice. In England, councils must provide a short breaks service for disabled children and publish what's available.
- SALT also: Speech and language therapy, SLT, Speech and language therapist
Speech and language therapists support communication (including AAC) and eating, drinking and swallowing.
- SENCO also: Special educational needs co-ordinator
The teacher in a nursery or school who co-ordinates support for children with special educational needs. They're usually the first person to talk to about extra help.
- SEND also: Special educational needs and disabilities
Short for special educational needs and disabilities. It's the term used in England for children who need extra help to learn, and for the system that provides it.
- Transition (to adult services) also: Preparing for adulthood, Transition Plan
The planned move from children's to adult services for education, health, social care and benefits. It usually starts in the early teens. Northern Ireland has a formal Transition Plan from Year 10 for young people with a statement.
- Variant also: Mutation, Pathogenic variant
A change in the DNA code of a gene. A 'pathogenic' or 'likely pathogenic' variant is one that is thought to cause a condition. Genetics reports often use this word instead of 'mutation'.
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