Contents:
Heller’s syndrome, also known as childhood disintegrative disorder, is one of the rarest and most dramatic developmental disorders. It is characterised by the sudden loss of previously acquired skills in a child who had been developing normally during the first few years of life. Due to its rapid onset and profound regression in functioning, this diagnosis causes great concern amongst parents and specialists. In this article, we discuss what Heller’s syndrome is, what its symptoms are, how the condition progresses, and what the diagnostic process involves.
What is Heller’s syndrome?
Heller’s syndrome is a rare neurodevelopmental disorder, first described in the early 20th century by the Austrian psychiatrist Theodor Heller. In diagnostic classifications, it was categorised as Childhood Disintegrative Disorder (CDD).
A characteristic feature of Heller’s syndrome is the child’s normal development for at least the first 2–3 years of life, followed by the onset of profound and progressive regression in many areas of functioning. This disorder is currently regarded as part of the neurodevelopmental disorder spectrum, due to its similarities to the autism spectrum, although its course can be considerably more severe.
Do you need some help?
Diagnosis of autism at the Dialog Centre for Children and Families
We carry out a comprehensive psychological assessment of the autism spectrum — thoroughly, providing a complete picture of the child’s potential and recommendations for the school.
Symptoms of Heller’s syndrome
The symptoms of Heller’s syndrome appear following a period of seemingly normal development. Regression usually occurs between the ages of 3 and 10 and affects several key areas.
Loss of language skills
One of the first and most worrying symptoms is the loss of speech. The child may:
- to stop speaking completely or partially,
- lose the ability to understand instructions,
- stop using words and sentences you already know.
Social functioning disorders
There is a marked deterioration in their interaction with their surroundings, including:
- withdrawal from relationships with peers and adults,
- a loss of interest in social activities,
- no response when called by name,
- limited or absent eye contact.
A decline in adaptive skills
A child may lose skills they had previously learnt, such as:
- eating independently,
- using the toilet,
- getting dressed,
- basic self-care skills.
Changes in behaviour
The following is often observed:
- stereotypical and repetitive behaviour,
- increased irritability or aggression,
- panic attacks,
- difficulties in regulating emotions.
Motor and cognitive impairments
Some children experience a deterioration in motor coordination, a slowdown in cognitive development and a reduction in their ability to learn.
The history of the Heller band
The course of Heller’s syndrome can be dramatic and difficult to predict. It is most commonly divided into three stages.
The period of normal development
The child is developing in line with the expected standards, acquiring language, social and self-care skills.
Recovery period
Within a few weeks or months, there is a rapid loss of the functions that had been acquired. This is the most emotionally taxing stage for the family.
The stabilisation phase
Once the regression has ended, there is a relative stabilisation in the child’s functioning; however, most of the lost skills are not regained. The child usually requires ongoing and intensive therapeutic support.
Causes of Heller’s syndrome
The exact causes of Heller’s syndrome are unknown. The following are suggested as possible contributing factors:
- neurobiological factors,
- brain dysfunction,
- neurodegenerative processes,
- genetic factors.
In some cases, epileptic seizures or abnormalities in neurological examinations were observed; however, these do not provide a definitive explanation for the causes of the disorder.
Do you need some help?
Diagnosis of autism at the Dialog Centre for Children and Families
We carry out a comprehensive psychological assessment of the autism spectrum — thoroughly, providing a complete picture of the child’s potential and recommendations for the school.
Diagnosis of Heller’s syndrome
The diagnosis of Heller’s syndrome is a complex process and requires the collaboration of a number of specialists. A thorough developmental history is of key importance, as it confirms a period of normal functioning prior to the onset of regression.
The diagnostic process involves:
- a detailed interview with the parents or carers,
- observing the child’s behaviour,
- an assessment of speech, cognitive and social development,
- neurological consultations,
- tests to rule out other causes of regression (e.g. metabolic or neurological disorders).
The diagnosis is made on the basis of current diagnostic criteria set out, amongst other sources, in psychiatric classifications such as the DSM-5, although the term ‘Heller’s syndrome’ is now sometimes replaced by the broader diagnosis of severe autism spectrum disorder.
Treatment and support
There is no curative treatment for Heller’s syndrome. Treatment is symptomatic and supportive. It includes:
- intensive behavioural therapy,
- speech and language therapy,
- rehabilitation of cognitive and motor functions,
- psychological support for the family,
- where necessary, pharmacological treatment of associated symptoms.
Early intervention does not halt the decline, but it can improve the quality of life for the child and those around them.
Summary
Heller’s syndrome is an extremely rare and severe developmental disorder characterised by a sudden and profound regression following a period of normal development. Its course is challenging, and diagnosis requires a high degree of clinical vigilance and a comprehensive differential diagnosis. Although there is no causal treatment, appropriately tailored therapeutic and systemic support is crucial for the child’s functioning and that of their family.
Do you need some help?
Diagnosis of autism at the Dialog Centre for Children and Families
We carry out a comprehensive psychological assessment of the autism spectrum — thoroughly, providing a complete picture of the child’s potential and recommendations for the school.
Bibliography
- Heller, T. (1908). On Infantile Dementia. Journal for the Research and Treatment of Mental Retardation in Children.
- American Psychiatric Association (2013). DSM-5: Diagnostic and Statistical Manual of Mental Disorders. Washington, DC.
- Volkmar, F. R., & Klin, A. (2005). Childhood disintegrative disorder. Journal of Child Psychology and Psychiatry.
- Rapin, I., & Tuchman, R. F. (2008). Autism: definition, neurobiology, screening, diagnosis. *Pediatric Clinics of North America*.
- Gillberg, C. (2010). The Autism Spectrum: A Guide for Parents and Professionals. Oxford University Press.
Read more
Related articles
Autism spectrum assessment – a step-by-step guide to diagnosis
Autism is a complex issue, and the subject is attracting increasing interest amongst both parents and professionals working with children and adults. More and more children are being referred to specialist clinics on the suspicion that their development is different, with the child’s difficulties being particularly evident in social interactions, communication or behavioural patterns. This […]
What rules out Asperger’s syndrome – factors in the differential diagnosis
Asperger’s syndrome – an autism spectrum disorder Asperger’s syndrome is a neurodevelopmental disorder classified within the autism spectrum, characterised by a different pattern of social and communicative development. It is not a disease in the medical sense, but rather a different pattern of brain development. The term derives from the name of the Austrian paediatrician […]
Rett syndrome – what it is, symptoms and causes of this rare disorder
What is Rett syndrome? Rett syndrome is one of the most frequently described rare and specific neurodevelopmental disorders affecting girls. In the literature, it is also referred to as Rett or Rett syndrome and belongs to the group of serious genetic disorders. Typically, Rett syndrome occurs in children who initially develop normally, but later experience […]
Autism – symptoms. How can you recognise them in children and teenagers?
Autism is a neurodevelopmental disorder that affects the way a person perceives the world, interacts with others and processes information. Nowadays, we talk about the autism spectrum, as symptoms and the level of support required can vary greatly. There is still a lack of reliable information on this subject, which is why many myths hinder […]
Is autism a disease? – Facts and myths about the autism spectrum
The autism spectrum refers to a variety of ways of developing and functioning, which may be associated with different needs, experiences and ways of communicating and perceiving the world. It is a lifelong neurodevelopmental disorder that affects communication, social interactions, sensory processing and behaviour. This means that a person on the autism spectrum may have […]
What is dysorthography? Symptoms, causes and treatment methods.
Not every typo is down to a lack of care, and not every spelling mistake is the result of rushing. Dysorthography affects thousands of children who know how to follow the rules of correct spelling but are unable to put that knowledge into practice. Why is that? What is dysorthography? What are its symptoms and […]
Do you need some help?
Diagnosis of autism at the Dialog Centre for Children and Families
We carry out a comprehensive psychological assessment of the autism spectrum — thoroughly, providing a complete picture of the child’s potential and recommendations for the school.
Book a consultation