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Support & Resources

Standards of Care

The Standards of Care for Angelman Syndrome was published in 2022 and is a framework for healthcare providers at all familiarity levels. This collaborative project documents common issues that accompany AS and the most common and established ways of providing care for the issues.  It covers both paediatric and adult patients. Note the authors have based it on the American healthcare system so some references may not be relevant or available in Ireland. 

Download Standards of Care Document
Download Seizure Treatment Guidelines

Therapeutics

There is an ongoing programme of research and clinical trials around the world to identify a treatment for AS to assist with cognitive skills, motor function and epileptic activity. Some incredibly promising advances have been made. See our Research section to find out more

Epilepsy

Epilepsy is a common feature of Angelman syndrome (AS), affecting 80–90% of people with the condition. The onset of epilepsy is most prevalent between 1–3 years of age; however, approximately 25% of patients developed epilepsy before one year of age. Various types of generalized seizures are most prevalent, with most common types are myoclonic and atypical absence. More than 95% of epilepsy patients may have daily seizures at least for a limited time during early childhood, and two-third patients develop disabling seizures. Fever provoked seizures, and frequent occurrence of nonconvulsive status epilepticus are two unique features [Samanta D. 2021] As with all young children, the likelihood of seizures increases if your child has a temperature or is unwell.

The Angelman Syndrome Foundation (ASF) in the US has developed a Seizure Treatment Guidelines. This is to be provided to a doctor in an emergency situation or a new clinical team to understand treatment of seizures in AS. Seizures in Angelman syndrome have some unique characteristics and treatment and this document should help someone who is unfamiliar with AS. 

Outpatient Treatment of Non-convulsive Status Epilepticus in Angelman Syndrome is a resource that you can provide to your medical care team to help understand individuals with AS that may be in status. Up to 50% of patients with AS will have non-convulsive status epilepticus (NCSE) with myoclonic or atypical absence status. Adapted from the experience of the Angelman group at Massachusetts General Hospital, this document provides guidance on the outpatient management of patients with AS and NCSE treating with a tapering course of oral diazepam.

Epilepsy Ireland have developed a useful booklet Epilepsy and Children A Guide for Parents

Low glycemic index treatment for seizures in Angelman syndrome  Article published in Epilepsia about low glycemic index treatment (LGIT) about a study of six individuals on the LGIT diet and its findings.

Sleep

Up to 80% of Angelman syndrome patients are estimated to have sleep disturbances such as decreased sleep, taking more time to fall asleep, and abnormal sleep behaviors. By far it’s one of the issues parents and care givers struggle with the most. Fortunately there are a number of ways in which this can be improved. 

Good Sleep Hygiene

  • Stick to appropriate sleep times as much as possible.
  • Ensure very low or no light in the bedroom.
  • A warm bath with bath salts and lotions before bedtime.
  • Enclosed environments, such as tightly fitted sheets, sleeping bags, or weighted blankets. We recommend early referral to HSE for an enclosed (or safety) bed in planning for transition from a cot.
  • Comfortable clothing such as pajamas that prevent overheating, which is a common trait in AS
  • During wake windows try to keep interaction to a minimum – carry out the care necessary without engaging in conversation, try to keep lights off or very low if possible

Sleep Medications

Many families use melatonin as first line treatment for sleep issues. Research (Braam et al, 2008) has now shown that the body’s own hormone melatonin is not produced sufficiently. In Ireland this requires a prescription and your doctor can advise on appropriate dosage for age. Some parents have noted that Magnesium Glycerite has helped in combination with melatonin. For second line treatment it is recommended to talk to your doctor about stronger alternatives such as Clonidine or Gabapentin. 

Iron – a study in 2020 showed iron deficiency may in part be related to sleep disturbances. Iron treatment had a moderate improvement in the study population (Ryan et al, 2020) Iron Deficiency and Its Role in Sleep Disruption in Patients With Angelman Syndrome.

Communication

Our friends over at Angelman UK have a robust collection of Communication materials on their site, which we highly recommend! Angelman UK host a Communication conference biennially (odd years)

Check out the booklet “I have Something to Say”, by Tracey Campbell for Angelman UK

ASI fund workshops on communication & AAC (augmentative and alternative communication) with Melanie from Communication Angel. These are held periodically so get in touch to see when the next one is scheduled for 2025

Therapies

People with Angelman syndrome experience walking problems and compromised motor skills. A physiotherapist can establish a tailored exercise program that can help develop, maintain, and restore maximum movement and functional ability. 

Recommended Reading: Benefits of Exercise and Physiotherapy for Angelman Syndrome

Further Resources from ASF: Physical and Occupational Therapy Best Practices for AS

Occupational therapy can help people with Angelman syndrome improve their daily life skills, including:

  • Fine motor skills: Grasping objects, writing, using utensils, and self-feeding 
  • Sensory integration: Improving how they respond to sensory experiences 
  • Communication skills: Promoting communication skills 
  • Self-help skills: Dressing, bathing, toileting, grooming, and hygiene 
  • Social skills: Interacting with others, initiating and maintaining social relationships, and understanding social cues and norms 
  • Sensory-motor difficulties: Improving motor coordination and balance 

OTs can also advise on equipment such as activity/feeding chairs, buggies and safety beds, feeding equipment, or sensory toys that can help sensory regulation.

Individuals affected with AS have limited functional speech and are typically able to communicate through gestures, sounds, signing, and augmentative communication devices (AAC). The lack of functional speech in AS is thought to be associated with cognitive delays and oral motor dysfunction. 

Signing and visual aids can help people communicate such as Signalong, PECS, Makaton (UK) or Lámh (Ireland)

Recommended Reading:

Communication in AS (Angelman UK)

Stepping in to AAC (ASF)

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Equine Therapy or Hippotherapy is a treatment that uses the multidimensional movement of the horse; from the Greek word “hippos” which means horse.

Equine therapy is, essentially, horseback riding under guided and trained supervision. Riding a horse exercises many of the muscles that are also used for walking. People with muscle weakness can ride astride the horse, with one or two assistants on either side to help them balance and ensure they don’t fall off the horse.

Contact your local horse riding center to see if they provide equine therapy!

It’s a common fact that people with Angelman Syndrome love water!

Swimming pools and water based activities are a great way to spend time, build strength and also provides sensory regulation.

Medical Referrals

HSE Angelman Syndrome Paediatric Care Pathway

Care pathways describe the process involved in managing a clinical condition. They include details on what to do, when to do it​, who does it, and where​.

The National Rare Diseases Office has developed a series of integrated care pathways for rare conditions. These care pathways are based on clinical practice guidelines and developed in collaboration with national clinical experts and Irish patient organisations.

Read full HSE Care Pathway

Additional Referrals

Further to what is detailed in the HSE care path way, the following referrals should also be considered if applicable –

Neurology

Note on Sodium valproate (e.g. Epilim, Depakote). It may also be called ‘valproate’ or ‘valproic acid) – this can be effective for treating seizures in Angelman syndrome. However, some studies have found that newer ASMs, such as levetiracetam, lamotrigine, and clobazam, are as effective or more effective than valproate, and have fewer side effects. (Shaaya, Elias A et al, 2016) “Seizure treatment in Angelman syndrome”

Ophthalmology

A recent study has demonstrated a variety of vision problems common with Angelman Syndrome. It showed that eye-related abnormalities were detected in all participants and recommended a neurovisual evaluation at time of diagnosis and to continue annually. (Galli et al, 2022) “Neurovisual profile in children affected by Angelman syndrome.”

Radiology

Feeding evaluation – video fluoroscopic swallow study to detect aspiration, if required

Genetic Counselling

public waitlists can be long but are improving. It is recommended to flag to be added to urgent list if planning to extend family. Private genetic counselling can be part funded via Rare Ireland charity.

Entitlements & Support

State Entitlements

Domiciliary Care Allowance (DCA) is a monthly payment for a child aged under 16 with a significant disability. It is not means tested. People getting DCA are eligible for a medical card without a means test.

Once DCA is accepted, you do not need to fill out the medical form when applying for Carer’s Allowance. 

For more information…

https://www.gov.ie/en/service/30fac9-domiciliary-care-allowance/

Carer’s Benefit is a paid to people who leave work or reduce their hours to care for a person in need of full-time care. You must have enough PRSI contributions. You can get Carer’s Benefit for 2 years (104 weeks) for each person that you are caring for.

If you get Carer’s Benefit, you can also get a GP visit card.

This is a means tested payment for carers who live and look after people who need full time care. If your child is under 16, you may qualify for Carers Allowance.

  • If you qualify for Carer’s Allowance you will also qualify for the Household Benefits Package (if you are living with the person you are caring for) and a Travel Pass.
  • People parenting alone, who meet the qualifying criteria for Carer’s Allowance, may qualify for both One-Parent Family Payment and half-rate Carer’s Allowance (CA). 
  • Care Sharing – Two carers who are providing care on a part-time basis in an established pattern can also share a single Carer’s Allowance payment and the annual Carer’s Support Grant

Half-Rate Carer’s Allowance: If you are getting certain social welfare payments and you are providing full-time care and attention to another person, you can keep your main social welfare payment and get a half-rate Carer’s Allowance as well. 

People parenting alone, who meet the qualifying criteria for Carer’s Allowance, may qualify for both One-Parent Family Payment and half-rate Carer’s Allowance (CA). 

For more information… https://www.citizensinformation.ie/en/social%20welfare/social%20welfarepayments/carers/carers%20allowance.html

The Better Energy Warmer Homes Scheme aims to improve the energy efficiency and warmth of homes owned by people on low incomes. It is operated by the Sustainable Energy Authority of Ireland (SEAI).

Rules

Carer’s Support Grant
The Carer’s Support Grant is paid to carers once a year by the Department of Social Protection (DSP). You can use the grant in whatever way you like. You can use it to pay for respite care if you wish, but you do not have to. In June of each year (usually on the first Thursday of the month), the DSP pays the grant automatically to carers getting Carer’s Allowance, Carer’s Benefit, or Domiciliary Care Allowance. One Carer’s Support Grant can be paid for each person getting care.

For more information…

Citizens Information Bureau – Carer’s Support Grant

The Carer’s Leave Act 2001 allows employees to leave their employment temporarily to provide full-time care. You are entitled to take carer’s leave of at least 13 weeks up to a maximum of 104 weeks. If you ask to take less than 13 weeks’ carer’s leave, your employer may refuse your request.

Carer’s leave from employment is UNPAID but the Carer’s Leave Act ensures that people who want to take carer’s leave will have their jobs kept open for them. You may be eligible for Carer’s Benefit if you have enough PRSI contributions. If you do not qualify for Carer’s Benefit you may qualify for Carer’s Allowance which is a means-tested payment. You can take carer’s leave even if you do not qualify for these payments.

To apply for carer’s leave you must have worked for your employer for a continuous period of 12 months.

The Additional Needs Payment is a payment to help you with an expense that you cannot pay from your weekly income. You may get an Additional Needs Payment, if you are working and on a low income, or getting a social welfare payment. This payment can help with expenses such as travel and staying with your child in hospital, increased fuel or electricity costs and a range of other expenses. Your income must be below the weekly household income limit. In some cases, you may be approved for a payment if your income is above the weekly household income limit, but it will depend on your circumstances.

For more information…

Citizens Information Bureau – Additional Needs Payment

Basic Supplementary Welfare Allowance is a weekly allowance paid to people who do not have enough income to meet their needs or the needs of their family. It is means tested.

For more information…
Citizens Information Bureau – Supplementary Welfare Allowance

Revenue Entitlements

The Incapacitated Child Tax Credit can be claimed by a parent/guardian of a child who is considered permanently incapacitated, either physically or mentally.

The tax credit can be claimed by employees paying PAYE as well as by self-employed people.

You may also claim tax relief in respect of medical expenses incurred by yourself or a dependent.

More information at: https://www.revenue.ie/en/personal-tax-credits-reliefs-and-exemptions/children/incapacitated-child-credit/index.aspx

The Primary Medical Certificate (PMC) is issued by the HSE for the purpose of accessing the Disabled Drivers and Disabled Passengers scheme. The scheme provides a range of tax reliefs linked to the purchase and use of specially constructed or adapted vehicles by drivers and passengers with a disability.

Note: For a younger child, a swivel car seat is deemed an adaptation.

For further information:

Disabled Person’s Parking Permits or Cards also known as European Parking Cards or Disabled Parking Badge are available to people living in Ireland with certain disabilities and those who are registered blind. The parking card can be used by a disabled person in any vehicle in which he or she is travelling. The permit applies to the person with the disability and not the car being driven The parking card is valid for 2 years from date of issue.

Disabled (also known as ‘European’) Parking Cards can be used by disabled people within the member states of the EU and are also recognised in the US and Canada. This means that when you travel abroad, you can bring your European Parking Card with you. However, it is important to remember that you must observe the motoring laws and restrictions on parking in other countries.

The application form is available from; Irish Wheelchair Association,
National Mobility Centre, Ballinagappa Road, Clane, Co.Kildare

Tel: (045) 893094

The application form must be completed and certified by your doctor and must be countersigned by a Garda. Decision makers within the issuing authorities will determine if you are eligible based on the information provided.

The permit costs €35 and its valid for 2 years.

You will automatically qualify for a parking card if you hold a Primary Medical Certificate. However, applications will still need to be processed via Irish Wheelchair Association.

Apply online at www.iwa.ie.

A housing adaptation grant is available where changes need to be made to a home to make it suitable for a person with a physical, sensory or intellectual disability.

The grant can help you to make changes and adaptations to your home, for example, making it wheelchair-accessible, extending it to create more space, adding a ground-floor bathroom or toilet or a stair-lift. In some cases, the provision of heating can be included, but only under certain conditions.

For more information…

https://www.citizensinformation.ie/en/housing/housing-grants-and-schemes/housing-supports-for-older-people-and-people-with-disabilities/housing-adaptation-grant-for-people-with-disability/

A Home Carer Tax Credit is a tax credit given to married couples or civil partners (who are jointly assessed for tax) where one spouse or civil partner works in the home caring for a dependent person.

For more information…

https://www.revenue.ie/en/personal-tax-credits-reliefs-and-exemptions/health-and-age/home-carer-credit/index.aspx

Community Contacts

Social Media Groups

Ireland WhatsApp Family Chat

Contact hello@angelman.ie to be added to our WhatsApp community Group

Ireland Facebook Parents/Carers Group

Click on this Facebook link and answer the members questions to join

(Private Group) – Angelman Ireland – Family Support & Chat

(Private Group) – Rare Ireland Family Support Network

(Private Group) – Parents of Kids with Epilepsy Ireland

Support Services

We Recommend!

Our community has a number of support services that we encourage families to link in with.

View All Services