Early diagnosis of autism is important if children are to achieve their full potential, explains Jennifer Humphries
Keywords: autism; autism spectrum disorders; diagnosis; assessment; community nurses
Autism is a developmental disorder affecting children from birth or the early months of life. It results in delay in, and deviance from, the normal patterns of development1. These occur in three areas of behaviour:
· Social relationships and interactions
· Language and communication.
· Activities and interests.
When problems occur in all these three spheres of development, and at a deeper level than the usual variations expected in ordinary children, the distinctive pattern of autism becomes evident. In the past there has been confusion over terminology, but experts now consider that children with the triad of impairments should come under the umbrella diagnosis of "autism spectrum disorders" 2,3, which should prompt further in-depth diagnosis. Gillberg2 suggests that the diagnosis of autism should specify additional features such as severity, cognitive level, clinical traits and associated medical conditions.
The incidence is hard to establish because of the problems of diagnosis but the National Autistic Society suggests a possible prevalence rate of almost 1 in 100 people in the UK for autistic spectrum disorders (91 per l0,000) 4.
Although autism is probably present from birth, or very soon after, its nature means that the specific disorders of developmental progression will not necessarily be apparent for many months or even years.
Relationships, communication and activities are immature in all young babies. It is only when they become more sophisticated that delays and deviations from the usual may be evident. Diagnosis is complicated by the variations found in the mental ability of children with autism. About two-thirds have additional learning difficulties and their unusual behaviour patterns may be ascribed to an overall developmental delay. Conversely, autism may be overlooked in children with average and above-average mental ability. Any odd behaviours or abnormalities in development, especially in very young children, may be dismissed as mild or transient.
Cause
The cause of autism remains unknown. The most likely hypothesis is damage to the brain, perhaps prenatally, though this has not been conclusively proved. The factors responsible may include:
· genetic or chromosomal abnormality
· viral agents
· metabolic disorders
· immune intolerance
· perinatal anoxia5.
These factors can result in other handicapping conditions, which explains why children with autism often have additional learning disabilities and some may have identified medical conditions such as fragile X syndrome, tuberous sclerosis and neurofibromatosis. However, this is not the full explanation as there are children who have damage to the brain as a result of these factors, but who do not have autism. There are also children diagnosed with autism in whom no cause is apparent, partly because the particular neurological impairment necessary for autism to occur has not yet been identified2. In a review, Gillberg 2 noted overwhelming evidence that autism has biological roots but found no single consistent explanation.
Genetic factors were important in some cases, perinatal stress in others, while in certain cases autism could have been produced by a combination of genetic and environmentally-induced brain damage2.
One model by Baron-Cohen and Bolton6 accounts for the uncertainty over the causes of autism by suggesting a final common pathway (Figure 1). This model shows how different causes, some of them unknown, can result in damage to areas of the brain responsible for the development of normal social function. communication and play.
Importance of early identification
As with any child with special needs, early identification is essential to allow interventions to be implemented. With autism, these need to be started before deviation and delay from the normal pattern of development has progressed too far6. Children with autism often display a characteristic need for sameness and structure. Their resistance to change can impede treatments because inappropriate behaviours have to be curtailed as well as more appropriate behaviours introduced. Mays and Gillon7 suggest that early intervention can improve communication skills and reduce out-of-control behaviours. Beck Williams, a nurse therapist working with children with autism, believes it is an advantage to know the child from a very young age and that it is possible to intervene at the start of a new behaviour which has the potential to become self-mutilating or dangerous8.
Early recognition of the condition also allows families to receive advice and support to help them adjust and respond to the child's difficulties.
Diagnosis of autism is rare before the age of two years and is frequently much later6. It requires comprehensive, specialist assessment, which means primary health care workers being alert to the features of the condition and making the appropriate referral. Attwood9 notes that autism can be diagnosed in children as young as 18 months but in practice this may be hard to achieve, partly because of the nature of the disorder and partly because of lack of knowledge. Unfortunately at present a considerable number of professionals involved with young children do not recognise autism10, although it is hoped that this situation will improve and cases will be referred to specialists at younger ages for early intervention6. Nurses and nursery nurses who work with babies and young children are in a prime position to recognise possible early signs that warrant investigation.
Since about two-thirds of children with autism have other learning disabilities as well, community nurses working with children with learning disabilities may be the first professionals to suspect autism. In children without additional learning difficulties, the health visitor may be the one to recognise developmental delays or deviations from the norms. Community paediatric nurses may also be key health workers in families whose children have experienced pre- and postnatal difficulties that may be associated with autism.
Parental concern
Children with autism vary according to individual personality and abilities and are affected by their environment. The early signs and symptoms are subtle and vague. Parents may recognise that their child is different from others of a similar age but be unable to articulate this difference. Listening to parents' concerns, no matter how nebulous or imprecise, is always important. "Be worried when the parents are worried"11. However, in many autism parents do not recognise anything untoward in their infant's development. Many people have little experience of the expected milestones of babies. Even those with other children will only have one or two others to compare their baby with, and most health professionals and child development books rightly advise parents not to compare children
Recognition of characteristics in early childhood
It is debatable whether autism is identifiable in the early months of life, although research indicates characteristics that may lead a health professional to suspect autism2,12,13. These babies are likely to benefit from further assessment.
Biographical accounts by parents often emphasise the "normality" of the autistic child as an infant14,15. Yet studies in which parents were asked if there were worries about the child's development in the early months of life suggest that many parents were concerned 12,13. Frith5 suggests that early concerns noted by parents of children with autism can be due to additional learning disabilities rather than to specific impairments associated with autism. In children with autism who have normal intellectual ability, abnormalities in development may occur (or be recognised) only after the first year.
However, there are indications in the usual developmental progress that could suggest autism. Wing16 describes two kinds of autistic infant, the placid, undemanding baby who rarely cries and the reverse, i.e. the screaming baby who is difficult to pacify. She notes that babies with autism may display other behaviours such as rocking, head banging and scratching or tapping at covers when in the pram or cot. They may develop a fascination for shiny or twinkling objects but have an apparent lack of interest in people, animals or traffic for example, when out in the pram. All these signs can, of course, be displayed by both ordinary children and children who have a learning disability unconnected to autism, so caution is needed before interpreting them as signs of autism.
Suggestive symptoms in early childhood
According to a study by Gillberg et al 12 it is possible to recognise autism in infancy. The symptoms most commonly reported in a study of 28 children were peculiarities of gaze, hearing and play.
Gaze
Avoidance of eye contact is often thought to be a characteristic of children with autism. This feature is less important than the unusual quality of the gaze. Many infants do not appear to see people and so may not look people in the eye, but in the baby with autism the gaze tends to be brief and out of the corner of the eye7.
Hearing
Peculiarities of hearing seem to be especially significant. Many children with autism have been suspected of being deaf at an early stage in their lives17. Very few actually have a hearing loss, though they may not respond to their name and appear to be unaffected by audible changes in the environment. Children with autism may seem to ignore even very loud noises that would be expected to startle most ordinary children. This may be to do with a generalised lack of interest in their surroundings9. It may be due to abnormalities in perception, since children with autism can appear to be especially sensitive to certain sounds 3,16. For example, a child with autism may develop a fascination for particular sounds such as that made by a friction-driven toy, or respond to the sound of a sweet being unwrapped from a considerable distance. Other sounds may appear to cause extreme distress, such as a police siren or a barking dog.
Social Development and Play
In young babies, play and social activity are closely connected and it is in this sphere of development that parents may note that their child is odd. Babies with autism may show a lack of interest in the types of play that most infants enjoy, such as those which involve social interaction with the parent.
The lack of sharing activity appears to be significant. Frith and Soares's study 13 of 173 responses from parents of children with autism indicate the lack of joint interest and activity displayed by their children in the first year. Babies with autism do not point out things of interest, do not take an active part in playing baby games and do not want to share in activities. These signs were not mentioned by the control group of parents of normally-developing children.
Referral
Early parental concerns about the developmental progress of their baby should always be heeded. If a mother expresses anxiety about her baby's social and emotional responses and perceptual abilities, the professional must be alert to the possibility of autism. Appropriate referral to specialists in normal and abnormal child development may mean that a diagnosis is reached sooner than has been typical in the past. A child development unit has the resources to assess a child in all aspects of development. While babies may display "autistic features", only a comprehensive diagnostic assessment can reveal whether they have autism or are merely displaying behaviour attributable to other difficulties18.
Assessment
This is best done at a child development unit because the expertise of a variety of disciplines is required and a team approach has been found to result in more accurate diagnosis. Assessment of suspected autism entails the parents providing a review of the family history, the pregnancy and the child's behaviour and developmental progress. A physical examination is required to determine any underlying medical conditions contributing to deviations and/or delays in expected developmental progress.
Developmental assessment includes fine and gross motor skills, language, (reception, expression and verbalization), sensory perception, social and emotional development and play. The quality of development is an important feature of the assessment, hence the way skills are used are as important as their presence. For example, a child with autism may have acquired the ability to reproduce words, but not have developed an understanding of their meaning. Or a young child with autism may point to an object but in a non-social fashion rather than to direct another person's attention to it 19 .
Ideally, children should also be observed in their usual environment, at home or nursery. Rating scales may be useful as a screening instrument2,19 but are not considered appropriate as a diagnostic tool2.
The diagnosis of autism is unlikely to be made on the basis of one examination, especially if the child is very young. Close monitoring of progress and regular assessment are essential to enable a full picture to be built up. Regardless of whether a definite diagnosis of autism is reached, children and their parents can be offered help. Babies suspected of having a developmental disorder can receive services for their particular needs and have their progress monitored. Parents can be supported and taught ways to assist their child that are specific for each sphere of the baby's development.
Diagnosis is likely to involve consultation between the unit team, who may include a paediatrician, clinical psychologist, child psychiatrist, speech therapist, play therapist. nurse specialist and social worker. Their role is also to help families to provide appropriate interventions to help the child. These should be based on the unique needs of the individual and will involve assistance with play and social interactions, behaviour and communication. Aarons & Gittens10 recommend early placement in a nursery or playgroup to provide the child with valuable social experience and learning opportunities, and enable the child's difficulties to be clarified. They would like:
"Specialist nurseries to be available where young children with autistic features could attend, even part-time, for continuing assessment . . . expertise in autism could then be centralised in a district, and parents would have access to advice and support10 ."
Davies20 also advocates support for parents. Her study indicated that families of children with autism can be put under considerable strain without such facilities. She notes that the greatest stress appears to be experienced by parents of young children with autism and who have other dependent children.
Prognosis
There is no cure for autism. Children with autism become adults with autism and most with additional learning disabilities will require care and supervision all their lives. People at the other end of the spectrum, however, and with ordinary intellectual ability, usually become partially or fully independent as adults but require specialist help as children. Interventions are designed to assist people with autism to achieve their full potential at all stages of their lives and to support and help parents and carers to accomplish this.
Conclusion
Autism is a developmental disorder that results in a cluster of abnormal behaviours. Evidence shows that early intervention improves long-term function for the child. It can lead to help and support for parents in caring for their child. Recognition of autism is still occurring later than experts would ideally like. Health visitors and nurses who specialise in child health are in a key position to observe characteristics in young children that could be suggestive of autism.
Key points
* Autism is an organic disorder affecting several areas of a child's development.
* Autism is present from birth, or very soon after, but the nature of the disorder can mean that diagnosis is delayed for months or years.
* Early intervention can improve long-term function and help the families.
* Babies with autism may display characteristic features of gaze, hearing, social development and play.
* Nurses working with babies and young children are in a prime position to recognise these characteristics and refer the family for specialised assessment.
* Learning disabilities may or may not be present in children with autism.
* Always listen to the parents. They often suspect something is wrong even though they may not be able to be precise.
REFERENCES
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3. Wing L. The definition and prevalence of autism: a review. European Child and Adolescent Psychiatry 1993; 2(2): 61-74
4. The National Autistic Society Statistics Sheet. How many people have autistic-spectrum disorders? London: National Autistic Society 1997
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13. Frith U, Soares I. Research into earliest detectable signs of autism: what the parents say. Communication 1993: 27(3): 17-18
14. Lovell A. In a Summer Garment. London: Secker & Warburg, 1978
15. Park CC. The Siege (2nd edn). Boston Mass: Atlantic-Little Brown. 1987
16. Wing L. Autistic Children (2nd edn). London: Constable. 1980
17. Frith U. Baron-Cohen S. Perception in autistic children. In: Cohen DJ. Donnellen AM (eds). Handbook of Autism and Pervasive Development Disorders. New York: Wiley, 1987. pp 85-102
18. Wimpory D. Autism. Breaking through the barriers. Nursing Times 1991; 87(34): 58-61
19. Baron-Cohen S. Allen J. Gillberg C. Can autism be detected at 18 months? The needle, the haystack and the CHAT. British Journal of Psychiatry 1992:161: 839-843
20. Davies J. The role of the specialist for families with autistic children. Nursing Standard 1996: 11(3) 36-40
Jennifer Humphries RN RM RHV BSc MA
Senior Lecturer, Department of Primary and Community Nursing, University of Central Lancashire, Preston
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