Family physicians and pediatricians have a central role in the early identification of the autism spectrum. You must refer children with clearly suspected autism spectrum disorder (ASD). This is because young children with severe autistic disorders should be treated as early and intensively as possible.
Almost simultaneously, Leo Kanner in 1943 and Hans Asperger in 1944 published their work on children with autistic disorder [1,2]. While Kanner’s work quickly became internationally known, Asperger’s research was known only to a small circle of experts for over 40 years. The image of autistic disorder in the professional world and the public corresponded to early childhood autism, sometimes called “Kanner autism”: Children with a severe impairment of interaction and communication, often without functional speech, without recognizable relationships except with their closest caregivers, without opportunities for independent daily living, mentally retarded.
The concept of autistic disorders has changed significantly over the past 30 years. It was recognized that children with early childhood autism and children with Asperger syndrome belong to the same disorder group of “pervasive developmental disorders” (PDD). In recent years, it has also been recognized that autistic disorders cannot be clearly distinguished from one another. Therefore, one speaks of the “autistic spectrum” or the “autism spectrum disorders” (ASD).
Diagnosis
For diagnostic purposes, the autistic spectrum is currently still divided into three subdiagnoses.
Children with early childhood autism show pronounced symptoms in the areas of “communication,” “interaction,” and “play behavior,” and symptoms are evident as early as the first three years of life.
In contrast, children with Asperger syndrome have normal language development and at least average intelligence. Their problems usually become apparent when they should be playing or learning in a group with other children.
Less sharply defined is the diagnosis of “atypical autism.” The affected children do not have manifest problems in all areas or these have not become apparent so early and are less severe.
As with all child psychiatric diagnoses, autism involves characteristics that vary widely in expression and may also be present in non-autistic children. This means that while there are children who are clearly autistic or non-autistic (neurotypical), there are also many children who are on the borderline in terms of the severity of their symptoms, and where even experienced professionals may come to different conclusions. There is not only black and white, but many shades of gray in between.
Frequency
Until the 1980s, early childhood autism was considered a rare disorder. With the concept of the autism spectrum, the definition has been greatly expanded and as a result, the diagnosis of autism spectrum disorder has become much more common. The greatest increase is found in children with average to above-average intelligence and rather mild autistic symptoms (Asperger syndrome, “high-functioning” autism). However, even children with intellectual disabilities, who were previously often diagnosed with autistic traits, are now diagnosed with autism after standardized diagnostics have been performed (e.g., also children with trisomy 21).
Studies from different countries show that about 1% of all children suffer from autism spectrum disorder. About a quarter of these children show classic early childhood autism. 50-60% of autistic children have normal intelligence. Boys are three to four times more likely to be affected by ASD than girls.
Early detection
Family physicians and pediatricians have a central role in early detection. They are not required to make a diagnosis, but they must record those children who are clearly suspected of having ASD and refer them to an autism service for a comprehensive diagnosis (Overview 1 and 2) . Most often, clinicians are confronted with an 18-24 month old child who does not yet speak. You must assess whether the child is a “late-talker” who tries to compensate for the lack of expressive language through nonverbal communication with eye contact, facial expressions, and especially gestures, or whether the child basically shows little interest in communication and interaction.
Questionnaires such as the M-CHAT can help clarify this issue. Gianpaolo Ramelli has shown for Ticino that the systematic use of the M-CHAT can significantly reduce the age of diagnosis for autistic disorders [3].
Could it be Asperger’s syndrome?
Suspicion of Asperger syndrome (Overview 3) usually arises only when a child has to find his or her way in a group of children. Depending on the severity of the abnormalities, this can be as early as daycare or kindergarten, or perhaps as late as school. In recent years, Asperger’s diagnoses have also increased in adults.
Autistic symptoms are often more difficult to recognize in girls. As a result, they are often diagnosed with Asperger’s much later than boys.
Causes
The question of the causes of autistic disorders has been debated since the first descriptions in 1943 (Kanner) and 1944 (Asperger). Both first authors had a more biological concept of disorder. However, Kanner then seems to have been involved with psychoanalytic models that were dominant in the U.S. from the 1940s to the 1970s, the best known exponent being Bruno Bettelheim. In this context, early childhood autism was understood as an attachment and relationship disorder, and emotionally cold mothers were blamed for their children’s disorder (“refrigerator mothers”).
Since the 1970s, neurobiological explanatory models have come to the fore. Family and twin studies had provided evidence for a genetic basis of autistic disorders. Unfortunately, 30 years of genetic research has yielded many individual findings but not a comprehensive picture of autism genetics. Since a large number of genes are involved in normal brain development, many genetic defects can also lead to maldevelopment, resulting in the clinical picture of autism. Genes that are important for synapse formation seem to play a particularly large role.
In addition, there are some neurological diseases that are clustered with autism and are caused by a known mutation (such as tuberous sclerosis).
Research in recent years has shown that exogenous factors during pregnancy, presumably based on genetic vulnerability, may increase the risk for autistic disorder in the child. This has been known for the longest time for intrauterine rubella infection, which fortunately has almost disappeared due to vaccination.
Medications used during pregnancy, such as valproate, may also increase the risk of autism. Environmental exposures to insecticides, air pollutants, or heavy metals may be involved in the development of autistic disorder. More nonspecific factors also appear to play a role. For example, a recent study showed that multiple episodes of fever during pregnancy significantly increase the risk of autistic disorder [4].
Still unexplained is the fact that children from migrant families are more often than expected affected by severe autistic disorders. Several studies from Sweden and England have demonstrated this for families from East Africa and Asia.
Overall, it must be stated that probably many causes of genetic and exogenous nature can lead to autistic disorders. In this respect, autism is no different from other psychiatric disorders. It is also unlikely that a child with severe early childhood autism with intellectual disability and epilepsy will have the same causes as a highly gifted Asperger’s adolescent.
Therapy
There is unanimous international agreement that young children with severe autistic disorders need to be treated as early and intensively as possible. A distinction can be made between behavioral therapy and play therapy models, and the “schools” have converged in the course of recent years.
While such offers are available to many families in countries such as the USA or Canada, there are only limited options in Switzerland. The IV has selected five therapy centers as part of a pilot project (Zurich, Geneva, Muttenz, Aesch, Sorengo). The centers differ greatly in terms of the concepts applied and the professionals involved.
At the Zurich Clinic for Child and Adolescent Psychiatry and Psychotherapy (KJPP), a treatment program based on the work of Ivar Lovaas and the principles of Applied Behavior Analysis (ABA) has been in place since 2004 [5]. Such treatments are internationally referred to as Early Intensive Behavioural Intervention (EIBI), the Zurich offer is called “early intensive behavioral intervention” (FIVTI) in reference to this.
Because children with autistic disorders do not learn through imitation and experimentation like other children, they take very slow developmental steps. With FIVTI, we design a learning environment that meets the needs of autistic children and enables them to catch up on missed developmental material and the associated developmental delay. To achieve this goal, we try to work 25-35 hours a week with the child. This is necessary because non-autistic children spend a large portion of their waking hours engaged in activities that contribute to learning and development. Ultimately, the child should be enabled to learn from the natural environment like other children.
Parents are a key component of therapy. You will take charge of your own therapy sessions and learn key techniques to maintain the child’s learning in everyday life. Furthermore, they are supported in implementing the skills learned in therapy into everyday life through regular counseling sessions. In addition, dealing with difficulties specific to everyday life, such as eating and sleeping problems, is discussed and practiced. The psychologists also accompany the parents as they come to terms with the autism diagnosis. If necessary, there is the possibility of family therapeutic support.
The goal of therapy is the best possible development in the areas of “social interaction and emotional development”, “communication and language”, “cognitive skills”, “self-help and daily living skills” and “motor skills”. The overriding goal is to achieve the highest possible level of independence in all areas of daily life.
Parents should be empowered to independently teach the child practical daily skills, communicate with the child, and guide the child to meaningful leisure activities.
Individual/group therapy for Asperger’s syndrome, “high-functioning” autism
Children and adolescents with mild autistic disorders and normal intelligence (Asperger syndrome, “high-functioning” autism) can be treated in individual therapy or in groups. The group approach offers many advantages. Young people get to know others who are struggling with similar problems, but who may also share interests. Individual young people find a friend in the group for the first time with whom they can exchange ideas and date. The group is also a realistic environment to try out new ways of communication and interaction. Various programs have been developed for this purpose. We conduct the group training KOMPASS (Competence Training for Adolescents with Autism Spectrum Disorders) developed in Zurich.
The COMPASS group training (Jenny, Goetschel, Isenschmid, and Steinhausen 2012) [6] takes a topic-oriented approach and focuses on the following topics in the basic training: Emotions, social communication (small talk), nonverbal communication, and promoting perspective-taking and empathy. This is followed by an advanced training in which the following topics are worked on: complex communication, complex interactions, Theory of Mind.
In the COMPASS groups, participants practice what they find most difficult: interacting with their peers. The training is designed to help sufferers better understand themselves and others. They will learn concrete behavioral scripts for dealing with everyday situations and deepen their social understanding. COMPASS assumes, against the background of research findings, that social skills can be consciously learned and intellectually comprehended. The training is highly structured. Social skills and related background knowledge are compiled and delivered on information sheets. This provides those affected, as well as their parents, teachers, and trainers, with a template for the behavior to be learned and the necessary background information.
COMPASS groups are led by two psychotherapists and consist of seven to nine adolescents or young adults ages 13 and older (high school) with Asperger’s syndrome or atypical autism. Group training takes place weekly after school or apprenticeship for 90 minutes. Weekly training tasks (e.g., exercises, observations) of approximately 20 minutes per week are an integral part of group treatment. Three information evenings are held for parents and, with the agreement of the young people, also for their teachers and trainers. In addition, current and former COMPASS participants can voluntarily participate in three social events per year (e.g., movie afternoon, rock climbing, barbecue night).
The COMPASS project has been running since April 2004. Evaluations to date show a meaningful decrease in autistic symptomatology and a substantial increase in social skills.
Feedback from the young people concerned, their parents, but also from other caregivers such as teachers and trainers is very encouraging. There are marked changes in behavior and opportunities for social interaction improve noticeably.
Take-Home Messages
- Family physicians and pediatricians have a central role in early detection. They are not required to make a diagnosis, but they are required to record children with a clear suspicion of autism spectrum disorder (ASD) and refer them to an autism service for an accurate diagnosis.
- There is international opinion that young children with severe autistic disorders need to be treated as early and intensively as possible.
- Children and adolescents with mild autistic disorders and normal intelligence (Asperger syndrome, “high-functioning” autism) can be treated individually or in groups, for which various programs have been developed (in Zurich KOMPASS group training).
Literature:
- Kanner L: Autistic Disturbances of Affective Contact. Nervous Child 1943; 2: 217-250.
- Asperger H: The autistic psychopathies of childhood. Archives of Psychiatry and Nervous Diseases 1944; 117: 73-136.
- Ramelli GP: Early identification of children with autism spectrum disorders: Experiences in Ticino. Pediatrica 2017; 28: 39-40.
- Hornig M, et al: Prenatal fever and autism risk. Mol Psychiatry 2017. DOI: 10.1038/mp.2017.119 [Epub ahead of print].
- Lovaas OI: Teaching developmentally disabled children: the Me book. New York: Plenum Press 1981.
- Jenny B, et al: COMPASS – Zurich Competence Training for Adolescents with Autism Spectrum Disorders: A practice manual for group and individual interventions. Stuttgart: Kohlhammer 2012.
HAUSARZT PRAXIS 2017; 12(8): 20-23
