Services and therapies
Community Nursing Teams & Children’s Community Nursing Teams
Clinical Genetics Department
A visit to the Clinical Genetics Department may be the first time you hear about the term GRI, GRIA, GRID, GRIK or GRIN. Timely access can help us understand the medical and reproductive implications of the diagnosis and identify relevant pathways of support. Clinical Genetics services may include consultant geneticists, doctors and genetic counsellors.
Individuals will often be seen in a hospital clinic. Clinical genetics teams usually provide:
- diagnosis of genetic variants disorders.
- information and support in relation to genetic conditions and their effects. Although with so many rare genetic disorders. Not all teams will hold comprehensive information on each genetic variant.
- risk assessment and genetic counselling to help individuals and families explore the options which are available to them, including for those with a family history of an inherited disorder.
- predictive genetic testing including prenatal diagnosis for certain genetic variants.
Referrals will usually be made by a doctor or other health professional.
Continence Service
Many people with GRI conditions have varying degrees of incontinence. Continence care is for people who have difficulties with toilet training or incontinence. The service is usually made up of specialist nurses who can advise on a range of measures to support incontinence and toilet training and will also advise and provide NHS continence products, although many health boards are now using private companies to physcially provide continence products. To qualify for free incontinence products provided by the NHS, you’re likely to need to meet criteria set out by your local NHS continence service. If you’re assessed as eligible, you should receive a supply of continence products free of charge. Speak to your local health visitor, GP, or community or school nurse in the first instance.
Bowel & Bladder UK (https://www.bbuk.org.uk/) have a comprehensive range of information and a help available on bladder and bowel health, continence promotion and options for managing incontinence, products, as well as signposting to services and a helpline.
Dietetics, Feeding and Nutrition
Making sure people with GRI conditions are well nourished in a way which supports their health and well-being, is often a key concern for parents and caregivers, as many have feeding difficulties and struggle to maintain healthy weight. In the NHS dieticians aim to promote appropriate nutrition in children and adults, both those with typical dietary requirements and those with special dietary needs. DIETICIANS can give specific advice and help with feeding problems, nutrition and therapeutic diets to help prevent and treat malnutrition, obesity, diabetes, gastrointestinal disorders and swallowing difficulties.
Some children and adults with GRI conditions have nasogastric tubes or gastrostomies to help them gain weight or maintain fluid levels. (HOME) ENTERAL FEEDING TEAMS in the NHS are a service which provides specialist dietetic and nursing support for patients living at home who have a feeding tube. They work in hospitals and the community to support complex needs at home, respite centres, schools or nursing homes.
If someone has difficulties swallowing they may also be seen by a SPEECH AND LANGUAGE THERAPIST, who has expertise and training in supporting the physical or mechanical side of swallowing difficulties. This should sit side by side with support from a dietician who can support ensuring adequate nutritional levels. To determine the severity of swallowing difficulties a videofluoroscopy may be needed. This is essentially a moving x-ray of a person as they swallow.
These services are specialised and access will usually be through the care of a consultant or GP in the relevant area.
Doctors
CONSULTANTS are senior doctors who have overall responsibility for the care of patients in hospital. They have completed a minimum of six years training in their speciality area, in addition to their medical training to gain specific certification and accreditation. Some Consultants will call themselves Mr. and Mrs. rather than Dr. Especially if they conduct surgery. Some Consultants will also work in the community, such as a Community Paediatrician.
GENERAL PRACTITIONERS (GPs) are senior doctors usually responsible for the management of patient care outside of hospitals. They can help diagnose and treat a range of illnesses and ailments, and refer individuals to specialist doctors, services and treatments, and available sources of help and support. In adult care they are increasingly responsible for the management and monitoring of complex chronic illnesses.
JUNIOR DOCTORS are qualified doctors in clinical training. They work in hospitals and in GP practices under the supervision of a senior doctor. They enter the medical workforce as ‘junior doctors’ on a two year work based foundation training programme, having completed a medical degree. They can spend up to eight year’s training as a hospital doctor (depending on their specialty), or up to three years in general practice, during which they are still considered a ‘junior doctor’ and work under a more senior doctor, usually a consultant. A REGISTRAR, is a junior doctor who has completed their foundation training but is still in training in a specialty area of medicine.
MEDICAL STUDENTS typically complete five years of undergraduate study or four years of postgraduate study to become a doctor including an initial two years studying basic medical science and a further three years of clinical training in hospitals under the supervision of senior doctors.
Hospitalisation
Having a child or adult in hospital can be an incredibly stressful and exhausting time, and there will be a range of practical challenges to face.
There may be support available through a variety of sources such as:
- Your local hospital patient advice and liaison services should provide confidential support for questions or concerns you have about hospital services.
- Ask in the ward or department whether there is support available to cover expenses such as parking or travel. It may be possible to get free parking for parents and carers.
- Contact a family has a programme of ‘By your side’ parent advisors, who support the families of children in long term hospital care. Find out more here: https://contact.org.uk/about-contact/what-we-do/our-programmes/by-your-side-reaching-families-in-hospital/
- Ronald Macdonald houses provide accommodation for the families children to stay as close as possible to the hospital so that they can be with their children, maintain a degree of normalcy and reduce emotional and financial hardship. They are located in 14 specialist children’s hospitals across the UK (Birmingham; Brighton; Bristol; Cardiff; Edinburgh; Liverpool; London Evelina Children’s Hospital; London King’s College Hospital; London St George’s Hospital; Manchester; Moorfields Eye Hospital; Oxford; Southampton and The Wirral).
- Hospice UK (https://www.hospiceuk.org/) is an information and signposting service about hospice and palliative care in the UK and overseas, many hospices for children also work for children with life limiting conditions. Hospice UK maintains an enquiry service, website, newsletters and a range of publications and directory of all UK hospices and palliative care services in the UK.
Hydrotherapy
Hippotherapy
Horse riding has lots of benifits. Hippotherapy is a form of physical, occupational and speech therapy in which a therapist uses the characteristic movements of a horse to provide carefully graded motor and sensory input. Find out more information through Riding for the Disabled Association (RDA), a network of hundreds of local member groups located all across the UK, bringing therapy, achievement and fun of horses to people with disabilities, https://rda.org.uk/rda-groups/, or the Association of Chartered Physiotherapists in Equine Activities has a directory for qualified hypnotherapists across the UK. https://www.acpea.org/
Ophthalmology, Orthoptists and Optometrists
Children with GRI conditions may have visual problems. In some variants, cortical visual impairment (CVI) is common. If the child or adult you care for has vision problems, they may be referred to an Ophthalmologist, who are doctors who specialise in eye conditions. Referrals usually come from your GP or other specialist doctors. A visit to the Ophthalmologist might involve the following: an eye sight test, visual development monitoring, tests for visual fields (peripheral vision), colour vision, contrast sensitivity or intraocular pressures, and photographs and eye drops may also be used.
- Ophthalmologists are doctors specialising in ophthalmology
- Optometrists specialise in testing vision and prescribing glasses – also known as an optician
- Orthoptists are specialists in testing vision and ocular movements.
Cortical Visual Impairment
Cortical or cerebral visual impairment (CVI) happens when the brain has a problem processing information sent from our eyes. The eyes themselves may be healthy and working, but the messages from the eyes to the brain get mixed up and muddled.
If you suspect visual problems or CVI ask for a referral to an Ophthalmologist for a CVI assessment. https://makeiteasiertosee.co.uk/ is a useful website about CVI and ways to help a child with CVI. If your child is diagnosed as visually impaired or blind, a Certificate of Visual Impairment will be issued, and this can help access specialist services and entitlements such as the blue badge and motability scheme.
Mental Health Services or Child and Adolescent Mental Health Services (CAMHS)
Music therapy
Occupational Therapy
When people have difficulties with day to day activities, occupational therapy (OT) is the branch of healthcare that will help people of all ages to perform these everyday activities. It is particularly helpful for people who have physical, sensory, or cognitive impairment. They use assessment to identify the impact of an impairment on someone’s ability to perform tasks, and then intervention to work with people to develop, recover, or maintain daily living and work skills. While occupational therapists work with people from all walks of life, when you have GRI or care for a person with GRI, you will most likely come across OTs who specialise in learning disabilities.
Common interventions carried out by OTs in the UK working with people who have GRI disorders, which aim to improve their quality of life include:
- Helping children to participate fully in school and social situations.
- Developing skills with individuals or groups, guide them through activities and exercises to improve abilities including adaptive techniques, to perform tasks in a new way, or skills for improved gross and fine motor control.
- Make changes to the physical, sensory and social environment, to put in place environmental adaptations and modifications which better support a person’s day to day activities, such as housing adaptations, supportive seating, installing grab bars in a bathroom etc.
- Provide assistive devices and technology to help people perform day to day tasks.
- Support people with disabilities to develop a meaningful occupation.
- Supporting the development of structures, routine and independence.
- Support sensory integration therapy to help reduce challenging and self-stimulatory or stereotypical behaviours, such as stimming and repetitive movements, interact with the environment, improve attention and perform activities. This is not always available through the NHS, but sessions may be available locally through a sensory integration therapist
- Providing assistance to those who support a person with a learning disability.
Portage
If your child is diagnosed with a GRI disorder at an early age or impairments are identified in early childhood, find out if portage services are available in your local area. Portage is an early childhood educational approach designed to support the development of children with disabilities who are under school age.
The approach is based upon collaboration between a trained portage specialist and a family, in the home environment. It focuses on empowering parents to learn techniques and strategies to aid their child’s development effectively, where disabilities in young children have been identified. The approach is highly individualised, and will focus on skill building through structured play and learning activities. Portage can cover various developmental areas, including:
- empowering parents with Motor Skills: Enhancing physical capabilities, such as crawling, walking, and hand coordination.
- Communication Skills: Developing verbal and non-verbal communication.
- Self-care Skills: Teaching basic self-help skills like eating, dressing, and toileting.
- Social Skills: Encouraging interaction with others and understanding social cues.
Regular assessment and monitoring should be conducted and adaptations made along the way. The following website has lots of resources and information, and has a page to help identify your local portage service. https://www.portage.org.uk/.
Public Health (Health Visitors, School Nurses, Immunisation Teams)
HEALTH VISITORS support children under 5 and their families. They see all new babies and their families at home following their birth after they have been discharged by their midwife. They will provide an initial assessment to determine if a family needs more help. They aim to identify health needs as early as possible, improve health and wellbeing by promoting health, preventing ill health and reducing inequalities.
SCHOOL NURSE are registered nurses who have undertaken further training to deliver public health work for school-age children. They work in school and the community and their role may include supporting individual children and families (including people with special needs or complex or chronic health), health promotion, immunisations, promoting good child health, emotional well-being, safeguarding and supporting vulnerable families.
IMMUNISATION TEAMS. Immunisation programmes are rolled out through these teams. They work in mainstream primary and secondary schools, including special schools, Looked after Children (LAC), Pupil Referral Units (PRU), private schools, home-educated children, and care homes etc,. If your child misses their vaccinations as part of a programme, find out when your local catch-up clinic is. It is really important for children with GRI disorders to get vaccinated, to stop preventable diseases putting them at risk.
Physiotherapy
If an adult or child has difficulty with their gross motor skills and mobility, physiotherapists use exercises, movements, and advice to help make life easier and build movement and function. They often set targets working to improve flexibility, strength and endurance by developing motor skills, including mobility and functional independence. They will work with individual and their families as well as community settings such as schools and care facilities to advise on the kinds of activities which will be helpful to an individual.
Therapists provide assessment, advice and management of conditions which affect people’s physical potential such as respiratory, musculoskeletal, neurological and genetic conditions and developmental delay, toe walking, as well as musculoskeletal conditions such as fractures and sprains and chronic pain conditions. Each person is individual and type and length of treatment will vary between people and conditions and should be planned around individual needs. Treatment should include regular assessment and evaluation.
If you think a child or adult is missing their motor milestones, if they are in pain when they move, move around in a very different way to others of a similar age, or they their condition means they need help to keep their joints active and healthy, get a referral. Referrals will often need to come from a GP, Consultant or other healthcare or education professional, and be specific to your local area. There is also lot you can do at home to encourage motor development, for example activities such as swimming, dancing, games, soft play or the park.
Treatment options may include:
- Information and activity suggestions in a plan to improve motor development or a particular skill which can then be practised at home.
- A specific course of intervention in order to treat a difficulty, over a period of time, including working closely with education services and other health professionals to ensure that recommendations are carried out throughout an individual’s day.
- More regular physiotherapy input, to prevent their joints or muscles becoming weaker or compromised, or perhaps to support others in helping a child’s overall development.
Speech and Language Therapy (SALT) and Augmentive and Alternative Communication (AAC)
SALT services help people with speech, language or communication problems or feeding and swallowing difficulties. They work across a variety of settings such as health centres or schools and advise on how best someone can be helped. You may be given advice to follow at home or offered a course of therapy where appropriate. Referrals are often made by GPs, health visitors, school nurses, teachers or social workers.
AAC is simply any strategy or tool to help people who have difficulties with typical speech, communicate as effectively as possible, and in as many situations as possible. It may include very basic objects of reference, picture or letter boards, or more sophisticated computer-based systems which use eye gaze technology. The basics elements of developing communication include awareness of others, turn taking, vocalising, cause and effect, understanding of language, and non-verbal communication skills
Sensory Integration/Therapies for Sensory Processing
Sensory processing helps people regulate the world. It is how the brain recognises and responds to information provided by your senses, and helps define everything from the way you see and hear things in the world, to the way that your body exists in space and time. Sensory integration refers to the processing, integration, and organisation of sensory information from the body and the environment. Sensory integration Therapy uses activities to create or reinforce the connections between the body’s sensory systems (such as hearing, vision, smell, taste, touch, proprioception and and our vestibular system and the brain. These therapies are not usually available on the NHS, although understanding and sensory rich approaches are becoming more commonplace within the NHS.