Heller's syndrome is a condition in which a child grows normally until age 3 or 4, then loses some abilities over the following months. Lost abilities include speech, interaction, and motor and mental functions.
Heller's syndrome, also known as childhood disintegrative disorder, is rare. Globally, the incidence of Heller's syndrome is approximately 2 in every 100,000 children. Heller's syndrome is included in the category of autism spectrum disorders, because its symptoms resemble those of autism .
Causes of Heller's Syndrome
Until now it is not known what causes Heller's syndrome. However, it is suspected that this condition is caused by abnormalities in electrical and signaling activity in the brain, due to a buildup of amyloid proteins in the brain.
These disorders can be triggered by a combination of several factors, namely genetic conditions, diseases experienced, and the influence of pregnancy or the environment, as explained below:
1. Genetic conditions, including:
- Genetic disorders
- Gene susceptibility to chromosomal damage or disruption
- Family history of autism or Asperger 's syndrome
2. Disease triggers, including:
- Autoimmune disease
- Allergies and digestive disorders
- Viral infection
- Deficiency of vitamin B12
- Increased levels of homocysteine in the blood (hyperhomocysteinemia)
3. Effects of pregnancy and the environment, such as:
- Toxoplasmosis , rubella, cytomegalovirus, HIV, or herpes simplex infections
- Viral infection
- Toxic exposure
- Injury to the baby during the birth process
- Premature birth
- Exposure to anti-seizure drugs or drugs that are dangerous for pregnant women
- Birth defects
Heller's Syndrome Symptoms
Children with Heller's syndrome generally show normal development, at least until the age of 2 years. After that, he will experience a decrease or loss of at least two of the following abilities:
- Understand language
- Interact and adapt
- Control urination or defecation
- Move limbs
Decrease or loss of the above abilities can cause intelligence disorders, such as:
- Difficulty learning new things
- Difficulty making eye contact or showing facial expressions
- Difficulty pronouncing words or constructing sentences
- The habit of speaking in an abnormal tone, for example using a song tone or a robotic voice
- Difficulty understanding other people's expressions or feelings
- Shows no interest in anything
- Bad interactions, for example being passive, aggressive, or disturbing others
In addition, children with Heller's syndrome also usually have certain patterns of behavior, such as:
- Doing certain movements repeatedly, for example constantly turning or swinging the body
- Doing things that can hurt yourself, such as biting yourself or banging your head
- Have certain habits and will be angry when these habits are disturbed or changed
- Has impaired coordination or movement of the body, such as looking sloppy, walking relying on the thumb, or body language that looks stiff
- Feeling sensitive to light, sound, or touch, but not to pain or ambient temperature
- Does not like games that require children to pretend or imitate something
- Paying attention to objects or doing activities excessively
- Have special eating habits, for example only eating certain foods
The decrease or loss of the ability above can occur suddenly or gradually. In general, Heller's syndrome affects children under the age of 10 years, with an average case occurring between the ages of 3–4 years.
When to see a doctor
If you are concerned about your child's development or suspect that your child has symptoms of an autism spectrum disorder, consult with your doctor . The symptoms of this condition can resemble the symptoms of other developmental disorders, so an examination needs to be done to confirm the diagnosis.
Diagnosis of Heller's Syndrome
Diagnosis of Heller's syndrome begins with a question and answer regarding the patient's symptoms and medical history, followed by a physical examination. Furthermore, further tests will be carried out to assess a number of patient abilities, such as:
- Nerve examination, to detect abnormalities in the brain or nervous system
- Language and communication test
- Vision and hearing tests
- Examination of growth and development, to assess the child's ability and compare it with the abilities of other children of his age
- Behavior checks, to see certain behaviors, for example how to play and interact, or special habits that are carried out
In addition, the doctor may also run laboratory tests, such as:
- Genetic tests, to detect diseases that run in families
- Complete blood count, to measure the levels of substances contained in the blood
- Thyroid function test , to check the function of the thyroid organ
- Blood sugar test, to measure sugar levels in the blood
- Liver function tests, to assess liver function and detect liver disorders
- Kidney function tests, to detect kidney disorders
- Body metal level test, to detect metal poisoning which can damage the nervous system and cause developmental and behavioral disorders
- HIV test, to detect HIV infection in the body
- Urine test, to detect substances contained in urine
If needed, the doctor will perform a scan with an MRI, CT scan , or PET scan, to detect possible tumors or abnormalities in the brain. However, scanning in children is risky enough that doctors will consider it more carefully.
Heller's Syndrome Treatment
Treatment of Heller's syndrome will be tailored to the needs of the patient. The method used can be behavioral therapy, such as applied behavior analysis. The goal is to teach children how to communicate, socialize, and behave.
Another method that can be applied to patients is sensory enrichment therapy , which is sensory and motor exercises that are carried out every day. This therapy aims to stimulate the patient's sense of touch using various objects with various textures.
Doctors can also prescribe several types of drugs to relieve symptoms experienced by sufferers, such as:
- Antipsychotic drugs , such as risperidone
- Antidepressant drugs belonging to the selective serotonin reuptake inhibitors (SSRIs) class
Please note, the above treatments cannot cure Heller's syndrome, but can help children move better
Heller's syndrome complications
Heller's syndrome can cause a number of complications in sufferers. Sufferers can experience a decrease in ability which reaches its peak at the age of 10 years. Although there may be an increase in these capabilities, but generally very limited. In fact, sufferers may become people with special needs for life.
Other complications that may occur are:
- Symptoms resembling severe autism, such as long-term impairment of cognitive function and behavior
- Marked impairment of intelligence, independence, and adaptability, leading to severe intellectual decline
- Difficulty to communicate due to decreased intelligence
- The risk of seizures will continue to increase into adolescence
Prevention of Heller's Syndrome
There is no way to prevent autism spectrum disorders, including Heller's syndrome. However, early screening and treatment can help improve a child's development of language, abilities, and behavior.
For women who are planning a pregnancy, the doctor will suggest a TORCH examination . Meanwhile, pregnant women are advised to undergo periodic pregnancy checks .