Other common issues - Angelman Syndrome (2024)

Individuals with Angelman Syndrome are often reported to be poor feeders during infancy and may have gastrointestinal issues such as constipation, reflux, and abnormal food related behaviours throughout their lifetimes.

It is estimated thatover 60% of individuals with Angelman Syndrome display arange of eating problems, with under- or over-eating being the most common.

Early feeding issues

Feeding issues are often reported to be the first indication of a baby possibly having Angelman Syndrome. Young babies with Angelman Syndrome may have problems feeding due to being unable to co-ordinate sucking and swallowing. Babies with Angelman Syndromemay also need to be treated for reflux.The problem can persist well into adulthood, leading to symptoms ofgastro-oesophageal reflux disorder (GORD)as food and acids backflow (reflux) from the stomach into the oesophagus.

Other issues

Other gastrointestinal issues include cyclic vomiting episodes, difficulty swallowing, excessive swallowing, and eosinophilic oesophagitis, where large numbers of white blood cells gather in the lining of the oesophagus (the tube connecting the mouth to the stomach), causing inflammation. This may be linked to food allergies although these can be hard to determine.

PEG tubes

In some cases, it becomes impossible for an individual with Angelman Syndrome to take fluid or food into their mouths safely or easily. In these cases, a PEG (percutaneous endoscopic gastrostomy) tube may be fitted. Fitting this tube may be done under general anaesthetic and parents and care givers wil be given specialist training on how to use the tube and care for it and the site of insertion (called the stroma). The tube will need to be replaced from time to time, the frequency will depend on the type of tube used.

Obesity

There is emerging evidence to suggest that eating behaviours maydiffer across genetic subtypes of Angelman Syndrome, Food related difficulties may leadtohigher rates of obesityin individuals with Angelman Syndrome, although the overall number of children with Angelman Syndrome who are overweight is unknown.

For more information, see:

www.gutscharity.org.uk

www.nhs.uk

People with Angelman Syndrome sometimes struggle to walk or stand independently. This can be for neurological reasons or because they need more support. Many people with AS will be offered orthotics by the NHS. These can take the form of Piedro boots or similar or AFO’s (ankle foot orthosis). If you think that the person with AS would benefit from this type of support speak to your GP, paediatrician or physiotherapist.

Anxiety in Angelman Syndrome has not beenwell researched, yet it is known anecdotally that many individuals experience levels of high anxiety. Astudyof patients at an Angelman Syndrome clinic in Massachusetts showed high incident rates with anxiety increasing with age: from 47% in adolescents to 71% in adults, with 57% overall having anxiety that impacted daily life.

Triggers for Anxiety

Triggers for anxiety include, but are not limited to, changes in routine, transitions, unfamiliar surroundings or people and fear of crowds or noise. Anxiety can present in a variety of ways, including self-injurious behaviour (head-banging, slapping or biting), cyclic vomiting or retching, pacing, refusing to move, repetitive behaviours or sounds. For people with Complex Communication Needs, anxiety can be difficult to deal with as they cannot talk about their experiences or difficulties. There are a variety of strategies that can be used to help deal with anxiety.

Strategies

• Routines andreassurance

Routines can be very important for people with Angelman Syndrome. Everyone likes to know what is going on around them and what is happening next. People with AS are no different. People with AS can sometimes feel overwhelmed or scared when a situation is beyond their control and may exhibit unwanted behaviours as previously discussed. It may help to remove the person with AS from the immediate situation and to reintroduce them slowly after allowing them time to adjust and re-centre themselves. Reassuring the person with AS by telling them what is going to happen can help them feel less anxious. You can do this by using pictures or symbols in the form of a visual time table, an AAC device or social stories. Talk softly and simply, offer physical assistance (hugs, hold hands, link arms), give time.

• Disability Distress Assessment Tool (DISDAT)

A DISDATis a tool that helps people recognise the signs of distress and anxiety in those with communication difficulties. It looks at the difference between how a person looks, behaves and communicates when relaxed and when anxious or distressed. This is a useful document that can be shared with anyone who comes into contact with the individual.

• Visual timetables

Visual timetablesare a visual representation of what is happening during a defined period of time. They are used widely in schools and can help people understand what is going to happen next. They may help with a reduction in anxiety around transitioning to different tasks or places.

• Social Stories

Social storiescan help people make sense of situations that they find difficult. The stories are written from the person’s perspective and describe the difficult situation and some solutions that can help them feel better about the situation. Even if they never learn to like the experience, repeated readings of the story can help the individual to know that they can be safe even in an uncomfortable situation. It is recommended that within the social story library they have stories about pleasant experiences as well as those that are difficult. This should increase familiarity with the format and understanding of the books.

• Therapies

Techniques that help improve well-being, including massage, yoga, breathing and relaxing music can be effective. Contact therapists within your local area to find people with Additional Support Needs experience. Exercise and being outside can also improve mental health generally.

• Communication

Increasing communication skills, particularly self-talk, is useful to aid anxiety. Self-talk is the internal dialogue that we have to help us rationalise our experiences. For people with Angelman Syndrome, this can be a useful tool. Kate Ahern has written a helpful blog postcovering this topic: just-talking-to-myself-dont-mind-me

• Zones of Regulation

Zones of Regulationhave been successfully implemented for people with Angelman Syndrome. There are four coloured zones representing different emotional states:

• Blue = slow, bored or tired
• Green = focused, happy, alert
• Yellow = cautious, still in control but heightened feelings of anxiety
• Red = stop out of control

There is no wrong zone to be in, we all experience times of being in each zone. Modelling of the different zones can help people to understand their emotions and steps to help move towards the green zone.zonesofregulation

If anxiety does impact on day to day life and experiences, there are medications that can be taken under the supervision of a medical professional. For anyone who is experiencing anxiety, a referral to the local Mental Health Service is recommended.

Acute respiratory disorders are one of the most frequent causes of hospitalisation in Angelman Syndrome, with frequency increasing with age. It is reported that people with reduced mobility and scoliosis are most at risk.

Aspiration pneumoniais frequent in people who have swallowing difficulties. If there are swallowing difficulties a Speech and Language Therapist (SaLT) who specialises in feeding, eating and drinking can help. You can ask your GP for a referral.

Colds and allergies can cause complications for people with limited ability to cough or clear mucus effectively. Being unable to blow your nose may cause mucus to be swallowed, which can in turn lead to chest infections. Keeping active and upright can be beneficial.

Always seek medical help or call 999 if there are any breathing difficulties.

Toilet training can be difficult in Angelman Syndrome, but despite the associated intellectual and behavioural challenges, continence (particularly urinary) can be acquired.

There does not seem to be any correlation between the type of Angelman Syndrome and the ability to acquire continence. Some achieve continence early, others later during adolescence and some may not at all.

Strategies

In general, the same strategies used for any other person can be used for toilet training and individual with Angelman Syndrome.

• Visibilityallow your child to see you and other family members use the toilet. Be open about discussing the fact that everyone wees and poos on the toilet.
• Location from as early as possible, try to only do pad changes in a bathroom and talk about this is where wees and poos happen. If your child is able to weight bear, try to do pad changes whilst the child is standing up.
• Equipmentspeak to a bladder and bowel nurse or your OT about what is available, particularly if your AS individual is too big for potties. You may need to have a seat insert, a portable step or handles fitted either side of the toilet to help your individual with Angelman Syndrome feel comfortable.
• Reading booksthere are many books about toilet training. Read these through a few times with your child beforehand.
• Timed intervalstaking your child to the bathroom every one and a half to two hours and encouraging them to sit on the loo. It might be better to do this after meals/snacks so they are not hungry or thirsty.
• Praise and rewards offer praise for all stages, even if all that is achieved is getting your Angelman indivdual to sit on the toilet however briefly. Use any physical rewards sparingly and only for actual production of a wee or a poo.

Pads

Your child may qualify for free pads from the NHS. Each Primary Care Trust (PCT) in the country has its own guidelines and there is a possibility that your child may not qualify at the time you ask for help.

Firstly, your GP or health visitor can give you a referral to a continence advisor – specialist nurses who are experts in continence. You might be able to get an appointment at an NHS continence service to see a continence advisor without a referral.

Your child will usually need to be above a certain age before they can even be considered for free pads. This age changes from place to place but is usually 3, 4, or 5. Increasingly, health trusts are raising their age limit.

In some areas, your child might need to be receiving Disability Living Allowance (DLA) or Personal Independence Payment (PIP) to get free pads.

Living in an area with a complete lack of a scheme is rare, but be aware that wherever you are you will more than likely find restrictions on the number of free pads you can get. This again varies depending on where you live and on the needs of your child but you can probably only expect at maximum an average of 4 pads per day. There may be little or no choice in the brand of pad you can get.

The typical waiting time is around 3 months from making contact with your GP to getting your first delivery.

Free pads will usually be delivered in bulk, usually as a 3-4 month supply and you will need space for storage.

Most individuals with AS have at least one symptom of gastrointestinal irregularity, with constipation and gastro-oesophageal reflux disease (GORD) being the most common.

The frequency of constipation is consistent among all genetic types of Angelman Syndrome,while early feeding issues appear to mainly affect those with deletions. Parents, carers and healthcare providers should be aware of the high prevalence of these issues, as proper treatment may improve not only gastrointestinal dysfunction but also sleep and behavioural issues.

Patients with a hardstooland chronic constipation issues will benefit from astool–softening laxative, such asmovicolor lactulose, but may require glycerine suppositories to help soften the rectalstoolinitially.

Upper gastrointestinal symptoms such as GORD, swallowing difficulties, cyclic vomiting, and eosinophilic esophagitis are more common in those with deletions and uniparental disomy, as these issues are likely related to the involvement of multiple genes and subsequent low muscle tone.

Uncontrolleddrooling(also known as poor saliva control, ‘sialorrhoea’ or ‘dribbling’)is common in Angelman Syndrome.

Excessive drooling can cause skin irritation and require frequent changes of clothes and bibs, in addition to the social implications for children and families.

Drooling is normally a result of inefficient control of salivary secretions, rather than an overproduction of saliva. This may be due to:

• Lack of awareness of external salivary loss
• Inadequate lip closure resulting in an open mouth posture
• Absent or impaired oropharyngeal (mouth and back of throat) sensation
• Abnormal movements/abnormal tone of the tongue and lips (sometimes known as intra-oral motor impairment)
• Reduced frequency of swallowing and difficulty with swallowing (sometimes known as dysphagia)

There may be other contributory factors:

• Poor posture
• Dental problems
• Mouthing of objects
• Medication being used for other purposes, eg epilepsy control.

Treatment

Saliva protects the teeth from attack by neutralising the acids that are produced after eating and drinking. It also provides a protective barrier against sensitivity, erosion and decay. The management of drooling, either by medication or surgery may negatively change the quantity and quality of saliva, resulting in teeth that are
more susceptible to plaque retention and associated dental disease such as decay or gingivitis (gum inflammation). Following treatment, good oral hygiene is therefore extremely important.

Medication

Medication used to treat excessive drooling may be provided as tablets (benzhexol hydrochloride, benztropin and glycopyrrolate), oral suspensions (glycopyrrolate), oral drops (Atropine – usually used for ophthalmic purposes) and dermal patches (hyoscine ‘Scopolamine’) .

Surgery

A surgical approach is taken if:

• Drooling is so severe that conservative measures are unlikely to achieve a satisfactory outcome.
• Compliance with conservative measures is unlikely due to severe intellectual and/or physical disability.
• The child is older than six years and conservative treatment is failing. Maturation of oral motor function can continue up until the age of six in children with developmental disabilities so surgery is not usually offered prior to this age.

The range of surgical options include denervation of the salivary glands, removal of salivary glands, sealing (ligation) of salivary ducts and relocation of ducts.