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Welcome to ourNews, where we keep up-to-date with research and other news related to infant mental health. These articles can be of interest to both parents and professionals.
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A paediatrician's introduction to autism. Part 1

We are very pleased to present a series of posts, 'Introduction to autism', by consultant paediatrician Dr Denise Challis. Dr Challis specialises in neurodevelopment and neurodisability, and lectures regularly in the UK and abroad. She is the immediate Past President of the Association for Research in Infant and Child Development.

In this series of posts, Dr Challis draws upon over 40 years of experience to provide an introduction to the aetiology, diagnosis and treatment of autism.

These extracts are taken from the recently published book 'Changing Destinies'1.

Dr Challis begins by describing this disorder.

Description

The symptoms of autism can be painfully florid when full-blown, yet subtle and difficult to diagnose in borderline cases, although no less traumatic for a child’s parents. Autistic spectrum disorder (ASD), as autism is more commonly described clinically, is a behavioural syndrome, an imperfectly categorized disorder. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM) IV criteria, which was used widely prior to 2013 and is still easily understood by many parents and professionals, there were three aspects to the diagnosis.

Firstly, there was qualitative impairment in social interaction. The child does not interact normally. There is reduced eye contact, lack of turn-taking and of shared enjoyment, and an inability to perceive other people’s emotions. Sense of humour and imagination are also lacking.

Secondly, there were qualitative impairments in communication. Autistic children do not use language normally. For example, they may not talk or may use phrases out of context. Their tone of voice is flat, and facial expressions are impaired and often misunderstood

Thirdly, there was rigid thinking, leading to visible distress at changes in routine. Similarly, lack of social perception leads to withdrawal into repetitive, “meaningless” habits or behaviours (known as stereotypies). This may emerge as tip-toe walking, hand-flapping, or finger twisting, in addition to spinning. There may be preoccupations with parts of objects rather than the whole, or unusual sideways views of everyday objects.

Essentially, it is the inability to grasp the meaning of social communication that underpins all diagnoses. As Professor Simon Baron-Cohen so cogently describes it, the child has “mind blindness”.

In the DSM V classification, which was introduced in May 2013, these features all fall into two main categories of disorder to be considered when making a diagnosis. These are:

  • A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delay and manifested by all three of the following: 
  • A1. Deficits in social-emotional reciprocity 
  • A2. Deficits in nonverbal communicative behaviours used for social interaction
  • A3. Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers).
  • B. Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following:
  • B1. Stereotyped or repetitive speech, motor movements, or use of objects
  • B2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behaviour, or excessive resistance to change
  • B3. Highly restricted, fixated interests that are abnormal in intensity or focus
  • B4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment.

In addition to the above, symptoms must be present in early childhood and affect or limit a child’s everyday functioning.

Aetiology

Autistic individuals comprise 0.7–1.2 per cent of the population, with boys outnumbering girls in terms of prevalence. The causes are many, especially where learning difficulties with epilepsy is concerned. Acquired brain lesions, such as those arising in Tuberous Sclerosis (which is located on chromosomes 16p and 9q) or in Herpes Encephalitis, have been causally associated. Children who already have attention deficit hyperactivity disorder (ADHD) or tics are more likely to show autistic symptoms.

Signs of other psychiatric disorders, such as obsessive-compulsive disorder (OCD) or anxiety/depression as a bipolar disorder, can present with autistic symptoms also.

Other conditions have been described independently but are considered by many to be under the autistic umbrella. These would include Rett’s Syndrome, which is a regressive disorder on the MEPC2 gene, arising in girls during the second year of life. Atypical Rett’s on the CDKL5 gene is also implicated, presenting often with early epileptic seizures. Oppositional defiant disorder (ODD) is now considered a subtype within the spectrum. Similarly, Non-Verbal Learning Disorder, described in the USA by Bourke, is an autistic disorder characterized by particular difficulty in distinguishing the meaning of facial expressions.

Other significant paediatric neuroses that can present antecedent to autistic criteria are selective mutism, post-traumatic stress disorder, personality disorder, eating disorders, and even sleep disorder (raising the theoretical suspicion that melatonin may be connected to autistic neural pathway dominance).

Also present may be post-traumatic stress disorder, severe learning difficulties of known or unknown aetiology particularly with epilepsy, the occasional effect of blindness from an early age, ODD, and non-verbal learning disorder.

The aetiology of autism remains obscure, but important underlying genetic vulnerability is being steadily and progressively identified from familial and twin studies. At the time of writing, it seems that Chromosomes 2, 7, and 16 are implicated. The genes involved are thought to be Neuroligin, Neurexin, SHANK -2, -3, and glutamate genes. It seems that the DRD3 gene is involved in children with a predisposition to stereotypic behaviour. Clearly there must be a problem affecting neuronal circuits of the “social brain”, probably in the prefrontal cortex, amygdala, or superior temporal regions, which also link to the cerebellum and to the hippocampal region (where emotional memories are stored). Synapse dysfunction and anomalies in the clock genes (which control the body’s sleep-wake cycle) then lead towards an abnormal default mode network.

It is known that, in addition to the genetic vulnerability, there are environmental risks that, if present, are more likely to lead to autism. Some precipitating events or disorders have been outlined already. Others are prematurity, gestational alcoholism in the mother, maternal gestational thalidomide ingestion, “TORCH” viruses during pregnancy, and vitamin D deficiency. It is known that autism is more common among first generation children of parents who have moved away from their own kin to other parts of the world. Whether this is a characteristic of some of those who move to another culture (perhaps autism risk gene carriers who are less attached to their indigenous social networks) or whether it is a bruising, isolating experience suffered on arriving in the adopted culture is not yet clear.

The next post in this series will consider diagnosis.

1 Acquarone, S (2016) Changing destinies: The Re-Start Infant Family Programme. Karnac, London.
Please click here for more information about this book.


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Welcome to ourNews, where we keep up-to-date with research and other news related to infant mental health. These articles can be of interest to both parents and professionals.
We are keen to know your views and so please do comment on our articles.
Is there a topic that you would like us to write about? Just send us a message via 'Contact us'.

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