Age Groups

The care management for people who have Angelman

Syndrome, changes as they move through the different stages

of life. An informative general resource for health care, is the

Angelman Syndrome Clinical Management Guidelines.

Birth - 3 Years

General Health

The diagnosis of Angelman Syndrome can be difficult in infancy because the typical characteristics aren't usually apparent at birth and symptoms may appear gradually. Even though sucking can be ineffective and breast feeding may be problematic, the infant can appear to be happy and healthy until they fail to reach certain milestones, such as sitting on their own. Where there is an agreed concern with you and your GP that your baby may be “failing to thrive” or if there are other indicators that something is not as it should be, you should be referred to a specialist Paediatrician at the public hospital.

The Paediatrician will do a detailed assessment and will have access to a variety of tests and other specialists in areas like gastroenterology, orthopaedics, neurology, etc. In their role as care co-ordinator the Paediatrician can also involve other services such as Genetics Service for specialist diagnostic tests. Samples of blood will be sent to laboratories here in New Zealand or overseas, to do further testing. Once a diagnosis is established (see Newly Diagnosed), clear information should be provided about the professionals who will provide ongoing treatment and care. One of them should take on the role of key worker to co-ordinate the health and disability needs of your child. Initially, the toughest aspects of Angelman syndrome for the parents to cope with, are sleep and feeding issues, and the possible onset of epilepsy.

Sleep - Children with AS appear to need less sleep than others and this can become extremely stressful because parents are faced with the urgent need to help their child sleep, as well as the need for the family/parents to sleep. Chronic sleep deprivation for parents can become a serious health hazard and negatively affect relationships, work performance, and personal safety. A lack of sleep for the child can also trigger seizures.

If you have the assistance of extended family of close friends, it is wise to enroll some overnight help to ensure both parents are able to get at least some regular sleep.
Using an enclosed bed such as a portable safety-sleeper with weighted blankets can have the effect of creating a ‘calm-zone’ for the child, which can help them sleep better.
Some families find their child sleeps better in a darkened room and total silence; others have found some soft light and ‘white noise’, works better.
Behavioral approaches can also be taken to train the child to sleep better.
Medication is a last resort. Always consult your GP before proceeding with any sleep medications for your child.

Feeding - Feeding complications are seen in the majority of infants with AS. Sucking can be ineffective and breast feeding may be problematic. Weight gain needs to be carefully monitored. Gastro-oesophageal reflux (GERD) is also common and can cause further problems. Infants with Angelman syndrome who have feeding difficulties may require special nipples, medication to treat reflux, and/or tube feeding. In some cases, children are referred to Paediatric Gastroenterology – to evaluate and offer suggestions for treatment for problems with slow bowel motility, constipation, or gastroesophageal reflux.

It is not uncommon for children with Angelman syndrome to be tube fed. Most parents who have struggled with their child's lack of weight gain have gone this route and have very positive things to say about tube feeding.
This case report describes the breastfeeding and bottle feeding challenges faced in the first 6 months of life by baby Leo, who was subsequently diagnosed at 12 months with Angelman Syndrome (AS): Case Study
When reflux needs to be corrected by surgery - Nissen Fundoplication

Seizures - There is a very high chance of the onset of epilepsy so it is important to know what different seizure-types might look like. Record any subtle seizure activity you notice, either in a notebook (description and timing) or take a video clip and get to your GP as soon as possible. It is important to have an emergency plan from your paediatrician/neurologist before your child is 20 months old.

Having an Emergency Plan in place can avoid unnecessary panic. It may include:

advice on what to look out for
how to place a child in the recovery position
how to time the seizure and how long to wait until you proceed to next step
access to emergency rescue meds you can administer yourself
an after-hours phone number
St John’s Ambulance Service phone number - 111

Specialist Health Services

Access to specialist health services in the New Zealand public health system is controlled by a process of referral by health practitioners authorised to do so. Usually that is your General Practitioner. The only other source of specialist advice is to pay for private consultations from specialists in private practice. The public health system referral process should get you the consultations you need to diagnose and treat your child’s condition, whatever specialist you need to see. The referral will be to the specialist clinic at a public hospital and the consultation, and any subsequent laboratory tests, X-rays or scans ordered by the specialist will be free of charge.

You may be referred to Genetics Service NZ - for diagnosis of genetic conditions, explanation of the diagnosis, discussion of prenatal or pre-symptomatic tests for genetic conditions, and to discuss implications of a family history of genetic conditions. These services are based in two centres, Wellington and Auckland, but they have outreach clinics in other areas.

Early Intervention Teams

These are set up in most centres, and may cover areas such as Paediatric development, Occupational therapy (OT), Physiotherapy (PT), Speech Language therapy (SLT). Families can access therapy services for their child from birth, through their local district health board. A referral can be made through your NASC (Needs Assessment and Service Co-ordination) service, paediatrician, GP (general practitioner) or health professional. You can also make the referral for your child yourself. Child development teams will refer on to, and work with, other service providers; for example, preschool educational services.

Ministry of Health NZ – Early Intervention Services
Kids Health Org. – Early Intervention info
Wellington - Wellington Early Intervention Trust

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3 - 6 Years

Early Education

Your child should qualify for a teacher aide to support them while at preschool. There are several choices as to what type of preschool education you might choose for your child:

Kindy programmes (public and private) are easily adapted to include a lot of sensory play and physical activities: all about kindy
Playcentres are perfect for mums who dont go out to work: welcome to playcentre

Community participation

Your Early Intervention Team will assess your child and help you access equipment, housing, transport, and education - and help with day to day activity and participation in your community. A variety of government subsidies are available for equipment, house modifications and modified vehicles but the criteria are complex and tight. Details of these criteria are available from the two agencies that administer the programmes:

Accessable – for the Auckland and Northland regions. Freephone 0508 001 002
Enable NZ – for the rest of the country. Freephone 0800 17 1981

The Lottery Grants Board’s Individuals with Disabilities committee considers grants for vehicles and communication equipment to assist independence and access to the community. Applications are usually considered only when applications to government sources have been declined.

Mobility Cards – Parking concession cards are administered by CCS. All children with AS should be eligible for a mobility card, due to their permanent health and mobility issues.

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6 – 18 YEARS

Health

NZ Code of Rights for all Health and Disability Services Consumers.

Epilepsy: Read more...

Traditional and Alternative Therapies: Depending on each child’s individual needs, early intervention and therapies such as Physio/PT, Occupational/OT, and Speech Language therapy/SLT, are effective and beneficial to an individual and their family. A number of alternative therapies such as brushing, hippo-, hydro-, and music therapy, have also shown to improve general health and well-being. Therapy can also be in the form of play or an enjoyable hobby. Read more on therapies here...

Dental Work: Keep a regular cleaning routine with a soft tooth brush and/or a textured glove. Use the brush/your finger, to rub the tooth surface near the gum with a gentle circular motion. Gently hold the sides of the mouth up while you get to the back teeth. Have regular annual checks for cavities, and X -rays to spot any deeper issues, such as cracks, abscesses or the state of wisdom teeth, etc. Usually dental procedures are done at your local hospital under general anesthetic. Note that children with AS can be more sensitive to anesthetics and can take longer than usual to come around. Read more here...

Respiratory Care: For children susceptible to pneumonia, The Vest® System can assist in airway clearance for patients suffering from airway clearance dysfunction, secretion retention and/or ineffective cough or secretion clearance due to immobility, deconditioning or muscle weakness. Read more here....

General info on HEALTH matters related to: Constipation, Feeding, Muscular/ skeletal issues, and Puberty, see: Angelman Guidelines

Education

Our website offers more practical info and ideas on Communication, The Right to a Voice, and Education.

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18 years – Adult

Health

Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases Ankita Prasad | Olivia Grocott | Kimberly Parkin | Anna Larson | Ronald L. Thibert

In NZ, when your child turns 18, they are legally an adult. They will be discharged from all Child Services and will need to access their health needs through Adult Services. This process is not straightforward as different departments seem to use different transition processes. In general, from 18yrs, all health matters will need to go through your GP first. The GP will then refer you back to the relevant specialists in the public system. The regular health monitoring of your child will cease and health matters will be treated when/if they occur.

Planning a future for your young adult child with Angelman syndrome

It’s a good idea to start looking at this topic seriously when your child turns 16. Read more on person centered planning.

In the past, choices were limited to either keeping your child at home or placing them in a residential group home. Today, MANY more creative options can also be considered. Depending on which part of the country you live in, what gender your child is, your financial circumstances, your family traditions and dynamics, etc. you can help craft a better future for your child. With support, you can create a flexible plan that has your adult child at the centre.

Workshops are held around the country to teach parents about: Guardianship and Conservatorship (from the age of 18), Supported Living or Residential options, Person-Centred Planning, Circles of Support, and Microboards. There are also many different organisations that have informative websites and provide courses about a range of life-style options for adults with disabilities. Keep researching and networking until you find something that sounds suitable for your own child.

Some options and information

ImagineBetter: Offers Training courses and Resources
More info on the PATH (Planning Alternate Tomorrows with Hope).
Choice in Community Living: the opportunity for disabled people in Auckland, Waikato, Hutt Valley, Otago and Southland regions. to move out of a residential facility or their family home and into their own home.
Changing lives with Circles of Support
SlideShare: Working in an Individualised Way
Webinar that focuses on how the PATH Planning tool is being used in a range of contexts in Aotearoa/NZ – as a person centred planning tool for individuals, a whānau planning tool, and used for strategic and organisational planning also.

On Guardianship and Conservatorship (from the age of 18)

What is supported decision making? Successful supported decision making empowers disabled persons* to make their own decisions on an equal basis with others. When successfully put into practice it ensures that the disabled person is at the centre of the decision making process and gets the support they need. This type of decision making promotes the person’s rights, will and preference, and assists them in achieving greater control and choice in their lives.
The alternative – substitute decision making: Substitute decision making is where one person makes decisions for another. For example, this happens where a Court appointed welfare guardian or property manager uses their authority to make decisions for a person deemed incapable of making decisions for themselves.

The PPPR Application process:

Read the Welfare Guardianship guide

Parents are advised to begin the PPPR application towards the end of their child's 17th year ready to lodge when they turn 18. You can do this through a lawyer or on your own; simply download the relevant forms from the Family Court website, fill them out and submit them yourself (no fee).

Occupation Options

Just like everyone else, many adults with Angelman Syndrome can find paying jobs which interest them and which they genuinely enjoy participating in. Employment is most successful when the environment is chosen by the adult, based on their own strengths and preferences.

Some examples are:

Promotions Distributor: posting flyers
Animal Care: walking dogs, shampooing dogs for a vet, grooming horses
Horticulture Assistant: washing out flower pots/planting at a nursery
Cleaner: vacuuming offices
Recycling: paper shredding
Patient Visitor: visiting the elderly and sick
Co-driver/assistant for deliveries
Artist/Designer: painter, photographer, print cards, wrapping paper, etc….
Writer: using new technology, anything is possible!!

Transition from School

Check out the following links:

Day Services and Programmes / Group Activities (list to be added to)

Community Day Services

Community day services help disabled adults who can’t find work to take part in their community and improve their interpersonal skills by providing access to regular meaningful social contact and stimulating activities.

The services will include a range of activities depending on the provider and the interests and abilities of the person. Activities may include: