Heller’s Syndrome or childhood disintegrative disorder (CDD) is a rare form of disintegrative psychosis that affects about 1 in 50,000 children. The main features are delayed development of language, social functions and motor skills. Medical researchers have not yet been able to find a cause of the condition and the disease cannot be cured.

Heller’s syndrome

• Characteristics of Heller’s Syndrome
• The cause of Heller’s Syndrome
• Therapy

Characteristics of Heller’s Syndrome

Heller’s Syndrome is a disintegrative disorder. It has some similarities with autism and is sometimes seen as a variant of this. However, the development of the condition is atypical in the sense that there is sometimes a period of normal development followed by a period of worsening again. Some children already have an established developmental delay before the condition is diagnosed. The period in which the relapse starts varies greatly, but usually falls between the second and tenth year of life.The setback in the child’s development can be very tragic. Children are sometimes aware of the changes themselves and may start to wonder what is wrong with them and why they suddenly can no longer do certain things . Sometimes children describe hallucinations and loss of functions without knowing what this is due to. As with virtually all pervasive developmental disorders, there are many differing opinions among clinicians about how the condition should be treated.A child affected with CDD is usually considered a normal healthy child shortly after birth. He or she experiences normal development in the first years of life and has no abnormal verbal or non-verbal communication. Motor skills are also not noticeable in the first years. However, between the ages of 2 and 10, the child loses virtually all the skills he or she previously learned. Doctors diagnose Heller Syndrome in children who experience loss of skills in at least two of the following functional areas:

• Expressive language skills
• Receptive language skills
• Social and self-care skills
• Control over bowels and bladder
• Motor skills
• Playing skills

, a deterioration is noted in two of the following three areas:

• Social interaction
• Communication
• Repetitive behavior

The cause of Heller’s Syndrome

The precise cause of CDD is still unknown. This is partly due to the diversity in appearance. Sometimes it comes on and a child deteriorates dramatically in just a few days or weeks. In other cases, the condition develops over a much longer period of time. Researchers from the renowned Mayo Clinic in the United States indicate that neurological examinations of Heller patients rarely reveal an underlying neurological or other medical cause. It is known that Heller patients suffer excessively from epilepsy, but it is not known whether epilepsy plays a role in the development of Heller Syndrome.The condition has been linked to a number of other diseases such as:

• Metabolic diseases or lysosomal storage diseases such as Pompe’s disease, Gaucher’s disease, Fabry’s disease, Mucopolysaccharidoses and Gangliosidosis. These diseases could play a role in the toxic build-up of fats/lipids in the brain and nervous system.
• Subacute sclerosing panencephalitis (SSPE), a chronic and progressive form of brain inflammation caused by a mutated measles virus that causes nerve cells to die.
• Bourneville disease or Tuberous sclerosis complex, which causes abnormalities of the skin, brain and kidneys and can also cause (benign) tumors in the brain.

Therapy

Heller’s Syndrome cannot be cured. Children become permanently disabled and require intensive care. The treatment consists of a combination of therapy and medication. Through therapy, an attempt is made to teach children language again and build social skills. By rewarding good behavior, an attempt is made to motivate children extra. Parental support is very important in this regard. In addition, there are no medications specifically developed for this condition. However, anti-psychotics are widely used to combat the most serious problems such as aggressiveness and obsessive-compulsive disorders. Sometimes medications are also required to prevent or reduce seizures, such as in epilepsy.