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Childhood ASD diagnosis -- stability and change over time

Anne-Katrin Kantzer is a paediatrician and postdoc researcher at the GNC. Her research focus at the GNC is on young children with ASD, but also more generally on ESSENCE and genetics. The Researcher’s Corner met up with her for a conversation about the stability of ASD diagnoses over time and the practical implications of the new knowledge within this field.



What is known about the diagnostic stability/change over time of childhood ASD diagnoses?

- Arriving at an autism spectrum disorder (ASD) diagnosis early in life, that is preferably between 2 and 3 years of age, means that interventions can be offered early on, enabling the outcome regarding the symptoms to be improved. On this there is agreement today. It can, however, be difficult to arrive at the diagnosis even earlier since the symptoms are not always very clear. Also, we are talking about developing children. An early ASD diagnosis is not a ”label”, which you receive as a small child and which then remains absolutely stable for the rest of your life.
In our study cohort, 129 children were included. They had been assessed at the Child Neuropsychiatry Clinic (CNC) in Gothenburg due to suspicion of ASD at about 2,5 years of age.. All the children had screened positive in a screening for autism symptoms at the Child Health Cares Centres (CHC) in Gothenburg. All children were clinically assessed at the CNC by a team consisting of a child neurologist, or child psychiatrist, a psychologist, a special education teacher, and a speech and language pathologist. Those children who received an ASD diagnosis were referred to habilitation services. Ninety-six of the children were then included in a follow-up study two years after the initial assessment and underwent the same assessment procedure once more. At this point they were between 4 and 5 years old. Similar to the results of other studies (for example studies conducted by Åsa Hedvall, Elisabeth Fernell, Christopher Gillberg and colleagues in Stockholm) we noted that the difficulties relating to the autism spectrum remained, but also that the children did not necessarily meet the same DSM-IV criteria within the group of ASD/PDD categories. For example: Children, who in our study at the initial assessment had received an autistic disorder diagnosis (n=53) in most cases still had the same diagnosis two years later (n=42), but some also/instead met criteria for Asperger syndrome (n=1) or so called atypical autism (pervasive developmental disorder, not otherwise specified, PDDNOS; n=7). Three of the children no longer met full criteria for any ASD, but had clear persistent autistic symptoms and other neuropsychiatric or neurodevelopmental/ESSENCE difficulties. Similar "changes" were seen in the other diagnostic subcategories.

What are the clinical implications of these findings? And what are the implications for research? What type of research questions and approaches are important to pursue?

- It is of great importance to ensure that anyone seeing children with autism and their families have knowledge of the stability and change over time of autistic symptoms. We have known for some time now that autism is not one diagnosis, but a multifaceted spectrum. Where on the "scale" of autistic traits a child is, and what other difficulties he/she has (for example regarding cognitive development, speech and language, and medical/physical state), together determine the level of functioning in everyday life. The level of functioning also depends on many external factors. The child’s overall psychosocial/demographic situation, family "autism awareness", pre-school and later school "autism awareness" are of very great importance. The more the surrounding environment is able to understand and meet the child’s needs and the more that is known about the child’s strengths and weaknesses, the better the chances of the child developing to his or her full potential. This is particularly important, given that social interaction with the surrounding world is a difficulty in itself. The child’s conditions change over time and the environment also changes. The symptoms can change, which in turn affects which diagnostic criteria are fulfilled. This means that children with autism need to be assessed several times throughout their childhood and that the diagnosis may have to be "adjusted".
In terms of research there are many questions, which are important to pursue. One such issue is whether or not it is possible to make "safe" predictions on the child’s individual prognosis based on different constellations of symptoms that appear early on in the child’s life. Another question is in what way comorbidity with other neuropsychiatric or neurodevelopmental/ESSENCE conditions affect the development of children with ASD. Yet another question is which factors have the most positive and negative impact on the child’s level of functioning during various developmental phases, and how the diagnostics and intervention can be tailored to these in the best possible way. We plan to follow our study cohort for an extensive period of time and to meet with the children and the families many times over at least a decade (possibly more), in order to follow their development. This is done for research purposes, but also, of course, so as to offer the families our views on what we consider that the children need at each follow-up age-point in terms of further reassessments, adjustment of diagnoses when needed, and interventions tailored to the individual.

In terms of comorbidity, what did your studies show? How are your results related to the ESSENCE concept?

- ESSENCE is a concept coined by Professor Christopher Gillberg in 2009 and then in 2010 in his article ”The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations”. This concept sums up a range of neurodevelopmental and neuropsychiatric symptoms. Autism is one of the ESSENCE conditions. Other conditions are ADHD, oppositional defiant disorder (ODD), Tourette syndrome, learning disability, language disorder, development coordination disorder (DCD) and a number of neurological conditions including a host of epilepsy syndromes. We know that all these difficulties, like autistic traits, can be "dimensional", and that an individual with symptoms within one domain is very likely to also have symptoms within other ESSENCE domains. In our first study with 129 children suspected of having ASD, 29 did not actually meet full stringent criteria for an ASD diagnosis. In the follow-up study, 16 out of 96 children did not quite meet such criteria. However, on both occasions almost all the children in the group who did not get an ASD diagnosis had pronounced autistic traits, including difficulties with social interaction, perceptual difficulties, repetitive behaviours, selective eating etc. All the children in the group without an ASD diagnosis had problems in at least one ESSENCE area. The most common ESSENCE-related problems in the group were hyperactivity/ADHD, language impairments, borderline intellectual functioning, and learning difficulties as well as motor difficulties, and, , often a combination of problems from at least two areas. This confirms the idea behind ESSENCE, which is that it is of great importance to adopt a broad and multidisciplinary approach from the very beginning when assessing children with developmental problems.

How can the knowledge regarding diagnostic stability/change in ASD be used in clinical practice? What are the implications in terms of assessment, diagnosis, support and treatment?

- We see that both the autistic symptoms and other ESSENCE-related difficulties change over time. In various developmental phases and under different living conditions, the symptoms that cause the biggest problems in everyday life for the individual child and his/her family may change. Even if the child has autism, this diagnosis is not necessarily the biggest worry at all times. Often the impairment in functioning is a result of the autism in combination with other conditions such as learning disability, language disorder and ADHD. And the same goes for all ESSENCE-related diagnoses! Clinically this means that the care of children with ASD must focus even more on the child’s current level of functioning, and that the child needs to be followed up and reassessed regularly so as to enable tailoring of the individual support. At the 2,5-year screening in Gothenburg we detect children with autistic traits and/or language problems. If they do not receive an ASD diagnosis, they always have at least one other ESSENCE-related difficulty that is important to follow up on. But if the children do not have autistic traits at the CHC screening, we do not detect them with the screening instrument that we are currently using. It is estimated that 10% of all children have ESSENCE-related problems! It would hence benefit all these children if a screening for ESSENCE problems in pre-school age was introduced, for example by introducing the ESSENCE-Q-questionnaire (developed at the GNC and available at the GNC website) as a standard at CHC. Then you would be able to map out the individual child’s difficulties and, in collaboration with health care professionals, the family, and the preschool/school, create optimal conditions for the child´s development.

By Nanna Gillberg


Page Manager: Anna Spyrou|Last update: 9/30/2014

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