From the moment she started breastfeeding her newborn son, Sue Harrison knew that there was something wrong. "When I held Richard, he struggled," she says. "He couldn't bear me to cuddle him. I ended up feeding him propped up on a cushion underneath me. I already had two daughters who were four and three when Richard was born and I kept thinking, 'Why is he like this? What am I doing differently?' "
For the first four years of Richard's life, he screamed throughout the night. He had no interest in toys and walked round the living room in circles for hours, clutching his bottle. "He would never say, 'Look at this, mummy.' He was in his own little world," says Sue. "When he went to school, his teachers said he was withdrawn. He had no friends. His behaviour at home was terrible. He had screaming fits and temper tantrums. I kept saying to his teachers that he wasn't right. They thought he had learning difficulties."
A psychologist said he had problems at school; the local child and family psychiatric service said he had emotional problems at home. In the end it was Richard himself, at the age of nine, who made the diagnosis. "I had a poster stuck on the fridge from the National Autistic Society because my three-year-old nephew had recently been diagnosed with autism," says Sue. "It showed pin men with words underneath describing autistic behaviour." The examples included "does not play with other children", "indicates needs by using an adult's hand", "inappropriate giggling or laughing" and "lack of pretend play".
"I was on the phone and I could hear him reading the poster out loud and saying, 'I do that, I do that, I do that.' He pulled me, saying, 'Come now, come now,' and showed me the poster, saying again, 'I do that.' I said to him, 'Yes, you do.' "
A second opinion from the Early Years Assessment Centre in Nottingham confirmed that Richard had austistic spectrum disorder, an umbrella term for a number of disorders of varying severity that include autism and Asperger's syndrome. These disorders, four times more common in boys than in girls, are thought to be the result of abnormal development of the brain. Genetic factors are implicated. Two thirds of children with the disorders have learning difficulties. Children with Asperger's syndrome have average or above-average intelligence and can often speak fluently. Children with severe autism may be unable to speak and have severe behavioural problems.
Autism is defined by a triad of impairments, in interaction, communication and imagination. Children may seem aloof and uninterested in people and may not be able to articulate how they feel or understand emotions. They may be able to repeat words they hear but not use them in other situations. If children engage in pretend play it may be rigid and repetitive.
"Richard has to go through lots of rituals before he goes to bed," says Sue. "Every night when he hears the normal noises in the house he will keep repeating, 'What's that, what's that?' "
Realising Richard has an autistic spectrum disorder, however, has helped the family enormously. "It's not a label, it's a diagnosis that has helped us to understand him. His teenage sisters used to think he was a pain. They would say to me, 'Mum, why can't you do anything with him?' Now they know."
Although the delay in diagnosing Richard's disorder is extreme, some delay is common. A survey by the National Autistic Society last year of 2,300 of its members showed that the diagnosis of 65% had been delayed for three or more years. "We found that 10% waited 10 years or more," says Jeanette Lyons, the society's spokeswoman. "Some were difficult diagnoses, but many parents told us that GPs had told them their children would grow out of it."
No one knows how many children have autistic spectrum disorder because there is no central register. Most estimates range from four to 30 per 10,000. Some researchers believe the number might be one in 100 including its most subtle forms.
In America, concern that children with the disorder are being missed and denied early help is such that an expert panel from the American Academy of Neurology and the Child Neurology Society last week recommended that all children should be screened for autism. The panel looked at evidence from 2,750 studies and concluded that toddlers should be screened for autism at regular developmental checks. In the UK, children are developmentally assessed at 18 months, but the milestones tested are mostly physical (brick-building and holding pencils) and do not include social and communication skills.
The panel suggest using the Chat (Checklist for Autism in Toddlers) questionnaire, which takes five minutes to administer. It asks parents whether their child plays peek-a-boo, shows them toys and takes an interest in other children. Doctors note whether the child makes eye contact during the assessment and whether they can interest the child in play.
The panel also says doctors should screen children when parents are worried about their development. Studies show that up to 80% of parents who are persistently concerned that their child has a developmental problem are shown to be right.
Dr David Goldberg, an epidemiologist in Glasgow, believes an early diagnosis is important because it can take so long for parents to get the help they need. His son Adam was diagnosed as having an autistic spectrum disorder at the age of two, after doctors had initially said that Adam would grow out of his problems. "It was important that he had an early diagnosis because it was still a battle to get the education and the care we wanted for him."
Adam is now in a residential school for children with autism and is doing well. "We believe that he has had the best opportunity to reach his full potential," says Dr Goldberg. "You can't get rid of autism. It is a fundamental disorder. But the early diag nosis helped us to deal with lots of his behavioural problems. We knew how to handle his toilet training, whereas we hear of children whose diagnosis was delayed who are still soiling and antisocial when they are older."
Judith Gould, director of the Centre for Social and Communication Disorders, says that early intervention can improve IQ and enhance social skills. "Once we start tackling children's behavioural problems then they get less frustrated and have fewer temper tantrums," says Dr Gould. "The trouble is that doctors aren't trained to recognise these disorders and still sometimes don't listen to parents' concerns that something is wrong with their child."
Dr Tony Charman, of the Institute of Child Health, is part of a team that has used Chat to screen for autism in toddlers. By following up these toddlers over eight years, it found it had identified between 20% and 40% of children who had autism. "It's not a very sensitive test, so it could be argued that it's not worth using it for screening," says Dr Charman. "But if the costs are not too high and parents do not get overanxious at being told their child might have a problem we need to monitor, it could help identify children with autism."
The American expert panel is keen to apply the test to all toddlers and urges doctors to look for signs of autism from 12 months onwards, when lack of babbling may suggest a problem.
"Early diagnosis helps children with autism," says Stephen Ashwal, a member of the US panel and head of the paediatric neurology department at the Loma Linda School of Medicine. "This is the kind of disorder that one would rather overdiagnose so a child can be followed carefully and receive the benefits of therapy. The concern has been that one might upset parents. But most professionals working with such children realise that parents prefer timely and accurate answers to their concerns."
In Britain, the all-party parliamentary group on autism already supports early diagnosis.
"Our understanding is that the type of intervention is not critical so long as children get behavioural support," says Dr Stephen Ladyman, MP for South Thanet and chairman of the group. "Doing something here will be better than nothing. We will look closely at the US recommendations."
Further information: National Autistic Society helpline, 0870 600 8585; website www.oneworld.org/autism.
Signs of autism
There is a long list of "red flags". This short list below has what doctors call absolute indications for immediate further evaluation:
• No babbling by 12 months
• No gesturing (waving bye-bye) by 12 months
• No single words by 16 months
• No two-word spontaneous phrases by two years
• Any loss of any language or social skills at any age