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A paediatrician's introduction to autism. Part 2

This is the second in a series of posts 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.

In her first post Dr Challis began by describing this disorder. She continues here by discussing diagnosis.

Clinical features

At present it appears that two patterns of presentation of autism are evident. The first occurs in infants who have never demonstrated “normal” eye contact, maternal bonding behaviour, or interpersonal interaction. The second is in toddlers who started well and who might even have developed early language skills but who then started to regress from around thirteen to twenty-four months, before slowly regaining some of their lost skills.

Of additional concern is the frequency of co-morbidity with autism. This is distinct from those conditions that may appear to be antecedent causes. Most common are:

  1. Epilepsy, which is present in 25–50 per cent of cases over time. Although only 10 per cent may show seizures in childhood, by 45 years of age Gillberg (2007) reports 45 per cent of cases showing epilepsy. In a fresh presentation of seizures and loss of speech in three or four-year-olds, one should consider Landau-Kleffner Syndrome (a rare form of epilepsy)
  2. ADHD, which has 30–60 per cent co-morbidity. The variants are ADD (30–50 per cent) and hyperactivity alone (10 per cent)
  3. Disorder of Attention and Motor Perception (DAMP) is another frequently encountered variant.

Diagnostic methods

As with most neurodevelopmental conditions, early detection and confirmation of diagnosis lie with paediatricians with a special interest in neurodisability, also known as developmental neurologists. The most reliable method is to use a neurodevelopmental observational assessment schedule (or a specific autism observation method such as the Autism Diagnostic Observation Schedule, ADOS). This should be coupled in the less obvious cases with a parental structured interview and a behavioural report from the different settings in which the child experiences daily life, such as a nursery class.

Perhaps the most helpful observation is that provided by the Griffiths Mental Development Scales (GMDS). These Scales were originally devised by the pioneering work of Ruth Griffiths, an eminent psychologist (1954, 1970) whose observations of children growing up from birth to eight years of age – the full duration of brain maturation – were unparalleled in her day and have scarcely been advanced upon since. Her Scales from birth to two years were revised by Michael Huntley of the Institute of Child Health, London, in 1996, and from two years to eight years by Dolores Luiz of the University of Nelson Mandela, Port Elizabeth, South Africa (the GMDS-ER), in 2006.

The principles underlying the Scales are that the developmental profile is a reflection of the maturation of the brain, and that developmental trends may be influenced by both environment and inherited disposition. It is implicit in the continuing myelination and maturation of the brain during the neurodevelopmental process that there are opportunities arising from brain plasticity. Thus opportunities for remedial intervention occur following injury and perinatal oxygen starvation and during critical periods of maximal learning potential. When considering therapeutic intervention to restore function after neurological injury, the foremost independent variable is age, followed by type of injury, and lastly by genetic substrate.

Parents are clear in their expressed views that “the assessment profile helped us to develop a sense of what is best to help our child”. There can be modification of inappropriate parental expectations, avoiding unnecessary behavioural problems or unwarranted anxiety. Neurodevelopmental diagnosis may clearly indicate the need for further specific investigations. One of the main advantages of the use of the Griffiths Scales over other observational schedules is that it gives a cognitive description as well as an autistic one, thus helpfully guiding towards the appropriate provision of resources in reflection of the underlying overall abilities of the child.

The Griffiths Scales look at five distinct domains in children from birth to two years. This is broadened further to six domains for children functioning over two years. The domains, or subscales, are as follows:
  1. Locomotor = posture, balance, graded coordination, movement competence, economy of effort
  2. Personal-Social Abilities = growing self-awareness, independence and social integration
  3. Language = ability to hear, listen, comprehend, formulate verbal response with intelligibility in correct language code for the listener
  4. Eye-Hand Coordination = visual competence with fine motor precision functionally
  5. Visual Performance = analyses visuo-perceptual awareness and praxis with speed of location as proxy
  6. Practical Reasoning = a measure of the child’s ability to use past learning experiences with generalization in both visual and auditory tasks.

Early detection of autistic behaviour is facilitated in the first year of life, particularly when using the Personal-Social and Language Scales, which can help identify possible warning signs, or “red flags”, if the child fails to demonstrate the following: 

  • Visually recognizes mother
  • Returns examiner’s glance with smiling or cooing
  • Friendly to strangers (at around four months)
  • Anticipatory movements when about to be lifted
  • Differentiates strangers from family and friends (at around seven months old)
  • Shows peer interest
  • Stretches to be taken up
  • Responds socially to mirror image
  • Gives affection
  • Plays interactive games
  • Asocial interest.
In the second year of life, there are more criteria, which if not demonstrated, are flagged as warning signs. These include:
  • Obedience to request with gesture
  • Likes adult to show them a book
  • Identifies parts of a doll’s body on request
  • Begins to cooperate in play with other children.
In the Language Scale during the first year of life, failure of the following may be significant, particularly in combination with other measurements in this Scale and in the Personal-Social Scale:
  • Ability to listen to conversations socially
  • Give an immediate response to name call
  • Use of two or more words in communication
  • Use of early varied jargon with intonation of more than four syllables.

During the second year, lack of any or all the expressive language/speech items may be seen. However, the early development of speech should not necessarily be seen as contraindicating autism, as regression of speech may be a feature after thirteen months of age.

In the other non-verbally mediated scales, the autistic child may show unusual behaviour interpersonally or with the test equipment. For example, he/she:
  • May use equipment in an odd way, not for the purpose intended
  • Is often unwilling to follow verbal instructions
  • May persist and insist on holding one special toy throughout, beyond the age when this may normally be expected
  • May line up cars obsessively
  • May be unable to follow examiner’s directions with form-boards; alternatively, may be exceptionally quick with them.
Subtle later findings, especially with Asperger’s Syndrome, include:
  • Responds throughout to examiner’s requests or language in a strangely literal way, illustrating semantic-pragmatic language disorder. This can be detected by careful questioning over the large picture scenario and with the comprehension questions – “What if…?” is responded to with “I’m not” 
  • Often fails personal-social questions relating to playmates or more specifically to naming a sole friend
  • Usually shows motor coordination difficulties, delaying overall results in Locomotor and Eye-Hand Coordination Scales (but not usually in Visual Performance)
  • In Practical Reasoning, may have conceptual difficulty: for example, seeing parts as disparate rather than as a whole
  • May respond to minute details in picture sequences: for example, the side of the door handle or colour of the door in sequential pictures of a house being built.

Thus diagnostic confirmation for overt autism can be confidently made using the GMDS plus the meeting of DSM V criteria from that qualitative observation. (See previous post) ADOS is unlikely to give further clarification in these cases. However, subtle autistic spectrum disorder needs a structured parental questionnaire in addition to the GMDS. Ideal for this purpose in children who have reached their third birthday is the 3Di structured parental interview. Other commonly used assessment tools include the Diagnostic Interview for Social and Communication Disorders (DISCO) and the Autism Diagnostic Interview-Revised (ADI-R).

In her third and final post Dr Challis will discuss some clinical examples.

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'.

ourAdvice, our other blog, has brief posts with advice for parents.

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