Hirschsprung’s disease – what are the signs and symptoms of Aganglionosis

Hirschsprung’s disease – what are the signs and symptoms of Aganglionosis
Hirschsprung’s disease – what are the signs and symptoms of Aganglionosis

Introduction

Hirschsprung’s disease is a rare condition that causes poo to become stuck in the bowels. It mainly affects babies and young children.

Normally, the bowel continuously squeezes and relaxes to push poo along, a process controlled by your nervous system.

In Hirschsprung’s disease, the nerves that control this movement are missing from a section at the end of the bowel, which means poo can build up and form a blockage.

This can cause severe constipation, and occasionally lead to a serious bowel infection called enterocolitis if it’s not identified and treated early on.

However, the condition is usually picked up soon after birth and treated with surgery as soon as possible.

This page covers:

Symptoms of Hirschsprung’s disease

When to get medical advice

How Hirschsprung’s disease is diagnosed

What causes Hirschsprung’s disease?

Treatments for Hirschsprung’s disease

Outlook for Hirschsprung’s disease

Symptoms of Hirschsprung’s disease

Symptoms of Hirschsprung’s disease are usually noticeable from soon after a baby is born, although occasionally they’re not obvious until a child is a year or two old.

Signs of the condition in a baby include:

  • failing to pass meconium within 48 hours – the dark, tar-like poo that healthy babies pass soon after being born
  • a swollen belly
  • vomiting green fluid (bile)

Signs in older infants and children include:

  • a swollen belly and a tummy ache
  • persistent constipation that doesn’t get better with the usual treatments
  • not feeding well or gaining much weight

If your child develops a bowel infection (enterocolitis), they may also have a high temperature (fever) and watery, foul-smelling diarrhoea.

When to get medical advice

Visit your GP if your child develops the symptoms described above. Hirschsprung’s disease can be serious if left untreated, so it’s important to get help as soon as possible.




If your GP suspects the condition, they will refer you to hospital for tests to confirm the diagnosis.

How Hirschsprung’s disease is diagnosed

Your child’s tummy will usually be examined and sometimes a rectal examination may be carried out. This is where a doctor or nurse inserts a finger into the back passage (rectum) to feel for abnormalities.

If Hirschsprung’s disease is suspected, an X-ray can be done to show a blockage and bulge in the bowel.

The diagnosis can be confirmed by doing a rectal biopsy, which involves inserting a small instrument into your child’s bottom to remove a tiny sample of the affected bowel.

This is then examined under the microscope to see if the nerve cells are missing.

What causes Hirschsprung’s disease?

The muscles of the bowel are controlled by nerve cells called ganglion cells. In Hirschsprung’s disease, these ganglion cells are missing from a section at the end of bowel, extending up from the anus, the opening in the bottom that poo passes through.

For some reason, the cells didn’t develop in that area when the baby was growing in the womb. It’s not clear why this happens, but it’s not thought to be caused by anything the mother did while she was pregnant.

A number of genes are associated with Hirschsprung’s disease and it does sometimes run in families. If you’ve had a child with it before, you’re more likely to have another child with it.

The condition is occasionally part of a wider genetic condition, such as Down’s syndrome, but most cases aren’t.

Treatments for Hirschsprung’s disease

All children with Hirschsprung’s disease will need surgery.

As they wait for surgery, they may need to:

  • stop having milk feeds and instead be given fluids directly into a vein
  • have a tube passed through their nose and into their stomach to drain away any fluid and air collecting in it
  • have regular bowel washouts, where a thin tube is inserted into their bottom and warm salt water is used to soften and flush out the trapped stools
  • take antibiotics if they have enterocolitis

Your child may need to stay in hospital during this time, or you may be able to look after them at home. Your doctor will advise you about this.

Surgery

Most children will have the “pull-through” operation, where the affected section of bowel is removed and the remaining healthy sections of bowel are joined together. This will usually be done when they’re around three months old.

If your child isn’t well enough to have this procedure – for example, because they have enterocolitis or a severe blockage – they may have it in two stages.

A few days after birth, the surgeon will divert the bowel through a temporary opening (stoma) made in the tummy. This procedure is called a colostomy formation.

Stools will pass directly out of the opening into a pouch worn on your child’s body until they’re well enough to have another procedure to remove the affected section of bowel, close the opening, and join the healthy sections of bowel together. This is usually done at around three months of age.

These procedures can be done using either:

  • laparoscopic (keyhole) surgery – this involves inserting surgical instruments through tiny cuts
  • open surgery – where a larger cut is made in your child’s tummy

Speak to your surgeon about the best option for your child.

Risks of surgery

No surgery is risk-free. There’s a small chance of:

  • bleeding during or after the operation
  • the bowel becoming infected (enterocolitis)
  • bowel contents leaking into the body, which could lead to serious infection (peritonitis) if not treated quickly
  • the bowel becoming narrowed or blocked again, requiring further surgery

Recovery from surgery

Your child will probably need to stay in hospital for a few days after surgery. They’ll be given pain-relieving medicine to make them comfortable and fluids into a vein until they can manage food.

No special diet is needed once you get home, but it’s important they drink plenty of fluids as they recover.

Your child should recover well and their bowels should function normally after surgery.

At first they’ll probably have a sore bottom when they poo. It can help to leave their bottom open to the air whenever possible, and use baby oil to gently clean their bottom as well as nappy cream after each change.

Call your doctor immediately if your child develops problems such as a swollen belly, fever, or foul-smelling diarrhoea.

Outlook for Hirschsprung’s disease

Most children are able to pass stools normally and have a normal functioning bowel after surgery, although they may take a bit longer to toilet train.

Some may experience persistent constipation and need to follow a high-fibre diet and take laxatives. Your doctor will advise about this treatment.

A small number of children have problems controlling their bowels (bowel incontinence), which can last until they’re a teenager and be very distressing.

Speak to your GP if this is a problem. You can also read advice about soiling in children.

Adhesive capsulitis – what are the signs of Frozen Shoulder?




Frozen shoulder
Frozen shoulder

Frozen shoulder is a condition that leads to pain and stiffness of the shoulder. It’s also known as adhesive capsulitis or shoulder contracture.

The symptoms tend to gradually get worse over a number of months or years. You’ll typically experience shoulder pain for the first two to nine months, which can be severe, followed by increasing stiffness.

[Original article on NHS Choices website]

The stiffness may affect your ability to carry out everyday activities. In particularly severe cases, you may not be able to move your shoulder at all.

The condition may improve with time, but this can sometimes take several years.

Read more about the symptoms of frozen shoulder.

When to see your GP

You should visit your GP if you have persistent shoulder pain that limits your movement.

The earlier frozen shoulder is diagnosed, the more likely it is that treatment can help prevent long-term pain and stiffness.

Read more about diagnosing frozen shoulder.




What causes frozen shoulder?

Frozen shoulder occurs when the flexible tissue that surrounds the shoulder joint, known as the capsule, becomes inflamed and thickened. It’s not fully understood why this happens.

The following can increase your risk of developing a frozen shoulder:

a previous shoulder injury or shoulder surgery
diabetes
Dupuytren’s contracture – a condition where small lumps of thickened tissue form in the hands and fingers
other health conditions, such as heart disease and stroke

It’s estimated that up to 1 in 20 people in the UK may be affected by frozen shoulder at some point in their life. Most people who get frozen shoulder are between the ages of 40 and 60. The condition is more common in women than men.

Read more about the causes of frozen shoulder.




How frozen shoulder is treated

Most people with frozen shoulder eventually get better, even without treatment. However, appropriate treatment can help reduce pain and improve the movement in your shoulder until it heals.

The type of treatment you receive will depend on how severe your frozen shoulder is and how far it’s progressed. Possible treatment options include:

pain treatments
shoulder exercises
physiotherapy

If your symptoms haven’t improved after six months, surgery may be recommended.

Read more about treating frozen shoulder.

Attention deficit hyperactivity disorder – Some great tips for Living with ADHD from the UK’s NHS

attention deficit hyperactivity disorder (ADHD)
Attention deficit hyperactivity disorder (ADHD)

Caring for a child with attention deficit hyperactivity disorder (ADHD) can be draining.

The impulsive, fearless and chaotic behaviours typical of ADHD can make normal everyday activities exhausting and stressful.

[Original article on NHS Choices website]

Ways to cope

Although it can be difficult at times, it’s important to remember that a child with ADHD can’t help their behaviour. People with ADHD find it difficult to suppress impulses, which means they don’t stop to consider a situation or the consequences before they act.

If you’re looking after a child with ADHD, you may find the below advice helpful.

Plan the day

Plan the day so your child knows what to expect. Set routines can make a difference to how a child with ADHD copes with everyday life.

For example, if your child has to get ready for school, break it down into structured steps, so they know exactly what they need to do.

Set clear boundaries

Make sure everyone knows what behaviour is expected, and reinforce positive behaviour with immediate praise or rewards. Be clear, using enforceable consequences if boundaries are overstepped (such as taking away a privilege) and follow these through consistently.

Be positive

Give specific praise. Instead of saying a general, “Thanks for doing that,” you could say, “You washed the dishes really well. Thank you.” This will make it clear to your child that you’re pleased, and why.

Giving instructions

If you’re asking your child to do something, give brief instructions and be specific. Instead of asking, “Can you tidy your bedroom?” say, “Please put your toys into the box, and put the books back onto the shelf.” This makes it clearer what your child needs to do and creates opportunities for praise when they get it right.

Incentive scheme

Set up your own incentive scheme using a points chart or star chart, so good behaviour can earn a privilege. For example, behaving well on a shopping trip will earn your child time on the computer or some sort of game. Involve your child in it and allow them to help decide what the privileges will be.

These charts need regular changes or they become boring. Targets should be:

immediate (for example, daily)
intermediate (for example, weekly)
long-term (for example, three-monthly)
Try to focus on just one or two behaviours at a time.

Intervene early

Watch for warning signs. If your child looks like they’re becoming frustrated, overstimulated and about to lose self-control, intervene. Distract your child if possible, by taking them away from the situation, which may calm them down.

Social situations

Keep social situations short and sweet. Invite friends to play, but keep playtimes short, so your child doesn’t lose self-control. Don’t aim to do this when your child is feeling tired or hungry, such as after a day at school.




Exercise

Make sure your child gets lots of physical activity during the day. Walking, skipping and playing sport can help your child wear themselves out and improve their quality of sleep. Make sure they’re not doing anything too strenuous or exciting near to bedtime.

Eating

Keep an eye on what your child eats. If your child is hyperactive after eating certain foods, which may contain additives or caffeine, keep a diary of these and discuss them with your GP.

Bedtime

Stick to a routine. Make sure your child goes to bed at the same time each night and gets up at the same time in the morning. Avoid overstimulating activities in the hours before bedtime, such as computer games or watching TV.

Night time

Sleep problems and ADHD can be a vicious circle. ADHD can lead to sleep problems, which in turn can make symptoms worse. Many children with ADHD will repeatedly get up after being put to bed and have interrupted sleep patterns. Trying a sleep-friendly routine can help your child and make bedtime less of a battleground.

Help at school

Children with ADHD often have problems with their behaviour at school, and the condition can have a negative impact on a child’s academic progress.

Speak to your child’s teachers or their school’s special educational needs co-ordinator (SENCO) about any extra support your child may need.

Adults with ADHD

If you’re an adult living with ADHD, you may find the following advice useful:

Make lists, keep diaries, stick up reminders and set aside some time to plan what you need to do if you find it hard to stay organised.
Let off steam by exercising regularly.
Find ways to help you relax, such as listening to music or learning relaxation techniques.
If you have a job, speak to your employer about your condition, and discuss anything they can do to help you work better.
Talk to your doctor about your suitability to drive, as you’ll need to tell the Driver and Vehicle Licensing Agency (DVLA) if your ADHD affects your driving.

Contact or join a local or national support group – these organisations can put you in touch with other people in a similar situation, and they can be a good source of support, information and advice.
For more advice, you can read about living with ADHD on the AADD-UK website. AADD-UK is a charity specifically for adults with ADHD.

AADD-UK also has a list of adult support groups across the UK.

Attention deficit hyperactivity disorder – Signs and Symptoms of ADHD

The sign and symptoms of ADHD
The sign and symptoms of ADHD

The symptoms of attention deficit hyperactivity disorder (ADHD) can be categorised into two types of behavioural problems.

These categories are:

hyperactivity and impulsiveness
inattentiveness

Most people with ADHD have problems that fall into both these categories, but this isn’t always the case.

For example, some people with the condition may have problems with inattentiveness, but not with hyperactivity or impulsiveness. This form of ADHD is also known as attention deficit disorder (ADD). ADD can sometimes go unnoticed because the symptoms may be less obvious.

Symptoms in children and teenagers

The symptoms of ADHD in children and teenagers are well defined, and they’re usually noticeable before the age of six. They occur in more than one situation, such as at home and at school.

The main signs of each behavioural problem are detailed below.

Inattentiveness

The main signs of inattentiveness are:

having a short attention span and being easily distracted
making careless mistakes – for example, in schoolwork
appearing forgetful or losing things
being unable to stick at tasks that are tedious or time-consuming
appearing to be unable to listen to or carry out instructions
constantly changing activity or task
having difficulty organising tasks

Hyperactivity and impulsiveness

The main signs of hyperactivity and impulsiveness are:

being unable to sit still, especially in calm or quiet surroundings
constantly fidgeting
being unable to concentrate on tasks
excessive physical movement
excessive talking
being unable to wait their turn
acting without thinking
interrupting conversations
little or no sense of danger

These symptoms can cause significant problems in a child’s life, such as underachievement at school, poor social interaction with other children and adults, and problems with discipline.

Related conditions in children and teenagers

Although not always the case, some children may also have signs of other problems or conditions alongside ADHD, such as:

anxiety disorder – which causes your child to worry and be nervous much of the time; it may also cause physical symptoms, such as a rapid heartbeat, sweating and dizziness
oppositional defiant disorder (ODD) – this is defined by negative and disruptive behaviour, particularly towards authority figures, such as parents and teachers
conduct disorder – this often involves a tendency towards highly antisocial behaviour, such as stealing, fighting, vandalism and harming people or animals
depression
sleep problems – finding it difficult to get to sleep at night, and having irregular sleeping patterns
autistic spectrum disorder (ASD) – this affects social interaction, communication, interests and behaviour
epilepsy – a condition that affects the brain and causes repeated fits or seizures
Tourette’s syndrome – a condition of the nervous system, characterised by a combination of involuntary noises and movements called tics
learning difficulties – such as dyslexia

Symptoms in adults

In adults, the symptoms of ADHD are more difficult to define. This is largely due to a lack of research into adults with ADHD.

ADHD is a developmental disorder; it’s believed that it can’t develop in adults without it first appearing during childhood. But it’s known that symptoms of ADHD often persist from childhood into a person’s teenage years, and then adulthood.

Any additional problems or conditions experienced by children with ADHD, such as depression or dyslexia, may also continue into adulthood.

By the age of 25, an estimated 15% of people diagnosed with ADHD as children still have a full range of symptoms, and 65% still have some symptoms that affect their daily lives.

The symptoms in children and teenagers, which are listed above, is sometimes also applied to adults with possible ADHD. But some specialists say that the way in which inattentiveness, hyperactivity and impulsiveness affect adults can be very different from the way they affect children.

For example, hyperactivity tends to decrease in adults, while inattentiveness tends to get worse as the pressure of adult life increases. Adult symptoms of ADHD also tend to be far more subtle than childhood symptoms.

Some specialists have suggested the following list of symptoms associated with ADHD in adults:

carelessness and lack of attention to detail
continually starting new tasks before finishing old ones
poor organisational skills
inability to focus or prioritise
continually losing or misplacing things
forgetfulness
restlessness and edginess
difficulty keeping quiet and speaking out of turn
blurting out responses and often interrupting others
mood swings, irritability and a quick temper
inability to deal with stress
extreme impatience
taking risks in activities, often with little or no regard for personal safety or the safety of others – for example, driving dangerously




Additional problems in adults with ADHD

As with ADHD in children and teenagers, ADHD in adults can occur alongside several related problems or conditions.

One of the most common conditions is depression. Other conditions that adults may have alongside ADHD include:

personality disorders – conditions in which an individual differs significantly from an average person, in terms of how they think, perceive, feel or relate to others
bipolar disorder – a condition that affects your moods, which can swing from one extreme to another
obsessive-compulsive disorder (OCD) – a condition that causes obsessive thoughts and compulsive behaviour

The behavioural problems associated with ADHD can also cause problems such as difficulties with relationships, social interaction, drugs and crime. Some adults with ADHD find it hard to find and stay in a job.