Once a person has received a diagnosis the help available will be dependent on their age and level of development and learning. However, many therapies and supports may help individuals with ACC and other disorders of the corpus callosum lead more successful lives.

Children

Changes in the corpus callosum are often diagnosed during childhood because of concerns about development, speech, or other problems such as seizures. It is likely that your child will have had a number of investigations as well as the brain scan such as blood and urine samples. This is often a time where there are a number of appointments with different professionals, including an ophthalmologist (eye specialist), endocrinologist (hormone specialist) and clinical geneticist for their opinions. This can be a frustrating time as it can feel that no-one knows what is wrong with your child.

The majority of children will have a paediatrician (often a community paediatrician) who will be able to assess their development, coordinate their care and put you in touch with other professionals and therapists, such as social workers, occupational therapists, physiotherapist and speech and language therapists. The involvement of health professionals will depend on the level of difficulties your child has. Numerous hospital appointments can be difficult for families to organise and keep track of. This may change as your child grows and you may find it useful to keep a record of the people involved in his/her care.

Do not be afraid to ask questions and find out as much as you can about your child’s individual problems. The answers may be helpful in making decisions about your child’s current and future needs. Every child is an individual and although he/she is likely to share some of the features of ACC with other affected children he/she will still have their own unique personality and developmental path. It is not possible to predict exactly what will happen to a child as they grow up or what level of care they will require, although the health professionals involved in your child’s care will be able to give you more advice and support about this issue. For many parents it is a matter of ‘wait and see’.

School

Children who have a diagnosis before they start school will already be involved with a Paediatrician and possibly a Child Development Team. Your paediatrician will know whether your child is likely to need any extra support when they start school and, with your permission, will inform the Education Department so they can gather information from everyone involved with your child and make sure they have the right support from the very beginning of their school life.

Some children will have already started at school by the time the diagnosis is made and you may or may not be aware of difficulties they are experiencing. You may find it useful to arrange to talk to your child’s teachers to explain the changes that have been found and discuss your child’s progress in more detail. It is unlikely that any of your child’s teachers will have heard of callosal abnormalities or had experience of dealing with children with the condition so your Paediatrician will be able to give you some information to show to the school. Your child may require extra help at school and it is best to talk to your child’s teachers and the SENCO (Special Educational Needs Coordinator – each school has a teacher who has had additional training with children who need support) about what help they may need and how this may be provided. Your child’s school may be able to assess this and provide the support, or they may feel your child needs a deeper assessment of their strengths and weaknesses by an Educational Psychologist.

As children get older some of the social and communication problems associated with ACC can become more obvious (see section on effects of ACC). It may be helpful to talk to your child’s teacher about this. Although we cannot change the brain malformation itself many of the challenges faced by an individual with ACC are amenable to appropriate help and intervention. Speech and Language Therapists and Psychologists may be able to help your child in these areas. It is important that, where possible, you talk to your child openly about issues as they come up and develop strategies together to deal with them.

Adults

Occasionally a callosal abnormality can be found as an incidental finding on a scan done for another reason, such as a head injury. In others, development of other problems such as seizures may prompt further investigations like a brain scan. For a person diagnosed in late adolescence or adulthood the diagnosis can come as a considerable shock as they are often unaware that there has been any change in the way their brain has formed. For some individuals it can feel like an explanation for difficulties they have experienced throughout their life.

It may be useful to talk to a neurologist about the changes on a scan in more detail. If this has been an incidental finding and you are otherwise well there are often no regular medical checks that need to be arranged. As the findings on the brain scan will not change it is unlikely that this will affect your health in new or unexpected ways. You may find it useful to talk to a clinical geneticist if there have been any other unexplained developmental problems or there are concerns about other members of your family.

The features below are based on observations of a number of individuals with ACC of varying intellectual level. Therefore this information may not be applicable to everyone. The problems that family, friends or teachers notice can change or become more apparent later in childhood. The presence of seizures or other changes in the brain structure, such as cysts or cerebellar abnormalities, may alter an individual’s abilities. If an individual has a specific diagnosis, such as Aicardi syndrome, then it may be more appropriate to look at the characteristics of other individuals with the same condition.

• Delay in achieving motor, language, and cognitive milestones
• Poor motor coordination (movement e.g. walking or throwing a ball)
• Increased sensitivity to stimulation such as food textures and touch
• High tolerance to pain
• Difficulty with complex tasks, such as using language in social situations, complex reasoning, creativity, and problem solving
• Limited sophistication of humour
• Difficulty imagining the potential consequences of behaviour
• Immature play for age
• Problems in social situations such as making inappropriate comments
• A lack of awareness of the thoughts and feelings of others
• Difficulty starting conversations and keeping conversation flowing
• Difficulty identifying what a speaker is feeling from their tone of voice or facial expressions
• Difficulty distinguishing between lies and sarcasm
• Difficulty in relationships with others, such as emotional give and take
• Limited insight into their own behaviour

A number of children with corpus callosum abnormalities will have a diagnosis of autistic spectrum disorder or Asperger’s syndrome. Some children who have problems with motor coordination may be diagnosed with dyspraxia.

Many individuals with ACC will also have other changes on their brain scans, such as malformations of the cerebellum, and/or problems in other parts of the body such as the eyes, skin and heart. Not only are these important to identify and treat where necessary, they can also be important clues to the underlying diagnosis. For example, girls with very specific changes on detailed eye examination (called chorioretinal lacunae) in association with brain development abnormalities may have a diagnosis of Aicardi syndrome.

Detailed investigation of a person with ACC may find a known cause for the disorder. Where ACC is thought to have occurred as the result of an infection or exposure to a medication, drug or excess alcohol, the risks of it recurring is reduced if the same exposure does not occur in the next pregnancy.

Sometimes a known syndrome is suspected by the presence of other problems such as a cleft lip or differences in how fingers have developed. Syndromes including ACC as a feature can be inherited through families or occur for the first time in an affected person. For individuals in whom a genetic or chromosomal cause is suspected there are a growing number of tests to look for changes in their genes or chromosomes. These are not currently available for all conditions. Your paediatrician or geneticist will be able to advise you further on this.

For the majority of families we are currently unable to say for certain how ACC has happened in an individual and how likely it is to happen again. For Aicardi syndrome the change is thought to occur in a gene on the X chromosome. Studies of many families with Aicardi syndrome indicate that the recurrence risk is very low.

ACC is diagnosed by performing a scan of the brain. For many individuals a scan will be done during childhood because of problems identified with their development, seizures or other problems. One or more of three methods are commonly used (see glossary of terms section for details). At the moment there is no other test that can reliably diagnose the presence of ACC in an individual.

• Ultrasound – pre- or post-natal
• CT
• MRI – pre- or post-natal

The number of corpus callosum fibres will not increase substantially after the fetus reaches 20 weeks. Callosum fibres that are present at that point will continue to develop throughout childhood and adolescence (e.g., become myelinated). However as the rest of the brain continues to grow and develop during childhood, adolescence and even as an adult, the effects of a malformed corpus callosum may become more obvious.

Reported figures in the medical literature vary widely. The most recent large scale study from the US in 2008 estimated an annual incidence of 1.8 per 10,000 babies born. The incidence in boys and girls are approximately the same, although the underlying causes for either sex may not be. It is widely acknowledged that callosal abnormalities are more common in individuals with learning and developmental disabilities.