Using Machine Learning to Accurately Diagnose Childhood Autism Sooner – Great Interview with Dr. Sharief Tamaran

Sharief Tamaran

Sharief Tamaran

“Please give an overview of autism diagnosis currently used in medical practice. What criteria and methods are used? How prevalent are autism diagnoses?

Autism is a clinical diagnosis. There is no one test to diagnose autism. Depending on the type of medical professional diagnosing, typically the DSM-V (standard classification of mental disorders used by mental health professionals in the U.S.) is used to diagnose by primary care physicians, neurologists, and psychiatrists.

Additionally, a set of questions known as the ADI-R (Autism Diagnostic Interview-Revised) and observations in a semi-structured assessment known as the ADOS (Autism Diagnostic Observation Schedule) are typically used by developmental pediatricians.

The most recent numbers show the prevalence of autism at 1 in 68 people. It is higher in males at 1 in 42 while at 1 in 189 in females. Despite this relatively frequent condition, many physicians are uncomfortable diagnosing and managing the symptoms of autism.”

To read the rest of the article please go here.

Top 10 Reasons For An Adult Diagnosis of Autism from Aspergers Central

Adult diagnosis of autism

Adult diagnosis of autism

We have look at adult diagnosis of autism on a number of occasions.

We found this video from Andrew at Aspergers Central to be most compelling.

For more information on adult diagnosis of autism please check out our previous post here.

Autism – Could brain scans be used to screen for autism?

Breaking the link between autism and anxiety

Breaking the link between autism and anxiety

“Brain scans could identify babies most at risk of developing autism, study shows,” The Guardian reports.

Researchers think that looking for distinct changes in infant brains could identify some children with autistic spectrum disorder (ASD).

A small US study used MRI scans to look at the brains of around 150 infants – 106 were thought to be at high risk of developing autism because of their family history. Autism can run in families, with multiple siblings being affected.

This study found some shared signs of unusual brain overgrowth in 15 high-risk infants at 6 and 12 months old. All of the 15 then went on to be diagnosed with ASD at 24 months.

However, 15 children is too small a number to have confidence in these results. If the results could be replicated in larger studies, a screening method could perhaps be created for children thought to be at high risk of the condition.

Even then, because of the complex nature of ASD, it’s likely that further assessment using a combination of behavioural and psychological tests would still be required.

Early signs and symptoms of ASD in preschool children include delayed speech and language development, repetitive behaviour, not responding to their name being called, and little interest in interacting with others.

Visit your GP or health visitor if you’re concerned about your child’s development.

Where did the story come from?

The study was carried out by researchers from several institutions in the US, including the University of North Carolina, the University of Minnesota and New York University.

It was funded by a grant from the US National Institutes of Health, Autism Speaks and the Simons Foundation.

The study was published in the peer-reviewed medical journal, Nature.

The UK’s media coverage on this research was generally poor. The Mail Online in particular reported that “scientists used MRI scan[s] to diagnose [the] condition in hundreds of babies under two years old”, which is simply not true. ASD was not diagnosed by the MRI scans, it was diagnosed using traditional methods.

Differences in the MRI brain scans were only seen in 15 children out of 148, and we don’t know if these changes are related to ASD or not.

What kind of research was this?

This was a proof of concept study that used brain scans and data from the Infant Brain Imaging Study (IBIS) to investigate whether ASD could be detected in six-month-old children at high risk of the condition before symptoms emerged.

Children with ASD tend to present with symptoms such as problems with social interaction and communication before the age of three.

Previous studies have shown that social deficits characteristic of ASD sometimes emerge in early childhood during the first and second years of life.

Small studies have also suggested there may be brain changes that start before 24 months of age, but these have not been validated.

ASD has been known to run in families. This study wanted to see if brain changes associated with the condition could be detected earlier in children at high risk of developing ASD. They also wanted to know if it could be detected early in children who were at low risk.

What did the research involve?

This analysis used data from the Infant Brain Imaging Study (IBIS), a network study that collected clinical data from four hospitals in the US.

IBIS enrolled children at both high and low risk of ASD. Children were defined as high risk if they had an older sibling clinically diagnosed with ASD.

Infants entered the study at six months of age, and the same children were followed up at 12 and 24 months.

The children were assessed using a brain MRI scan at each of these three time points. The MRI images were used to obtain brain tissue volumes and measurements of the surface area of the brain and cortical thickness.

Further tests measured cognitive development, adaptive functioning and behaviours associated with autism. The assessments were made using the Mullen Scales of Early Learning and the Vineland Scales of Adaptive Behaviour.

Autism-specific assessments included the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Scale, and the Symbolic Behaviour Scales of Development Profile.

The final diagnosis of ASD was made by a clinician at 24 months of age using these tools.

This analysis looked at data for 106 high-risk individuals and 42 low-risk children. The researchers analysed the data to see if there were associations between diagnosis of ASD at 24 months and any clinical symptoms earlier in infancy.

What were the basic results?

There were noticeable brain changes in 15 infants below the age of 24 months who went on to be diagnosed with ASD at 24 months.

The changes seen were increased cortical surface area expansion at 6-12 months and brain overgrowth at 12-24 months. The emergence of social deficits characteristic of the condition became apparent during this time period.

There was no difference in total brain volume growth at 6-12 months between the high-risk and low-risk infants.

However, total brain volume growth rate was increased in the high-risk group during the second year of life, when compared with low-risk children. There was no difference between the groups in cortical thickness.

How did the researchers interpret the results?

The researchers concluded: “These findings demonstrate that early brain changes occur during the period in which autistic behaviours are first emerging.

“Our data suggest that very early postnatal hyper expansion of cortical surface areas may have an important role in the development of autism.”

Conclusion

This early-phase research suggests there may be brain changes associated with ASD, and MRI scans could potentially be used to aid earlier diagnosis.

However, we don’t know if these changes are present in all children with ASD. Much larger studies would be required to see if this is the case.

The researchers suggest these findings may have implications for the early detection of and intervention for ASD.

However, any such test would need to have a high degree of accuracy to avoid over- or under-diagnosis of ASD in infants. Even if this test was well validated, it would probably be just the start of a process of diagnosis.

Early signs of ASD in preschool children fall into four main categories:

problems with spoken language

failing to respond to others

problems with social interaction

unusual behaviour

See your GP or health visitor if your child is showing symptoms of ASD or you’re worried about their development.

If appropriate, your GP can refer you to a healthcare professional or team who specialise in diagnosing ASD.

Summary

“Brain scans could identify babies most at risk of developing autism, study shows,” The Guardian reports. Researchers think that looking for distinct changes in infant brains could identify some children with autistic spectrum disorder (ASD).

Links to Headlines

Autism detectable in brain long before symptoms appear. BBC News, February 15 2017

Accurate test for autism? Scientists use MRI scan to diagnose condition in hundreds of babies under 2 years old. Mail Online, February 15 2017

Brain scans could identify babies most at risk of developing autism, study shows. The Guardian, February 15 2017

Links to Science

Cody H, Hongbin Hm Brent G, et al. Early brain development in infants at high risk for autism spectrum disorder. Nature. Published online February 15 2017

Autism Research – Parents of children on the autism spectrum can you help with a survey into the diagnosis of autism?

University of Bolton - Autism Research

University of Bolton – Autism Research

We are a team of researchers from the University of Bolton with a keen interest in Autism Spectrum Disorder. We are contacting you as we need participants for our new study on the effects of ethnicity and socioeconomic status on the age at which a diagnosis of Autism is made.

Although a number of factors have been suggested to have an influence in the age at which a diagnosis of Autism is made, this information is not yet conclusive. For example, whereas some studies suggest that higher socioeconomic status has a positive impact on early diagnosis, others fail to replicate this finding, probably by not taking additional factors, such as ethnicity and educational level, into account.

The aim of this study is to provide a better understanding of how ethnicity and socioeconomic status may have a reciprocal influence and affect the age at which these conditions are diagnosed. This will allow developing more adequate screening strategies targeting specific ethnic and socioeconomic groups, thus permitting a more adequate intervention with children with Autism.

In order to do so we need the participation of parents of children/adolescents with a diagnosis of an Autism Spectrum Disorder. This entails completing a survey which asks questions regarding your daughter/son behavioural and cognitive preferences, as well as about your ethnicity and socioeconomic status. This should not take longer than 25 minutes.

You can proceed to the survey by following the link: https://boltonss.eu.qualtrics.com/SE/?SID=SV_e4mDQqiWB03xewB

Diagnosing Autism – A How to Guide

Autism – diagnosis

Autism – diagnosis

See your GP or health visitor if your child is showing symptoms of autism spectrum disorder (ASD), or you’re worried about their development.

If appropriate, your GP can refer you to a healthcare professional or team who specialise in diagnosing ASD, or someone who has access to such a team.

The specialist or specialist team will make a more in-depth assessment, which should be started within three months of the referral.

If you’re referred to an individual specialist, they may be a:

psychologist – a healthcare professional with a psychology degree, plus further training and qualifications in psychology

psychiatrist – a medically qualified doctor with further training in psychiatry

paediatrician – a doctor who specialises in treating children

speech and language therapist – a specialist in recognising and treating communication problems

Some local health authorities use multidisciplinary teams. These are a combination of specialists who work together to make an assessment.

Assessment

A diagnosis of ASD is based on the range of features your child is showing.

For most children:

information will be needed from your GP, nursery or school staff, plus speech and language and occupational therapists, about your child’s development, health and behaviour

a speech and language therapist, and often an occupational therapist, will carry out an assessment

a detailed physical examination will need to be carried out to rule out possible physical causes of your child’s symptoms, such as an underlying condition like neurofibromatosis or Down’s syndrome

the assessment will include a check for any coexisting physical health conditions and mental health problems

In addition, for some children:

you may be asked to attend a series of interviews so a detailed family history and the history of your child’s development and behaviour can be drawn up

your child may be asked to attend a series of appointments so specific skills and activities can be observed and assessed

Once this process is complete, a diagnosis of ASD may be confirmed.

After diagnosis

When a child is diagnosed with ASD, many parents are keen to find out as much as they can about the condition. The National Autistic Society has an excellent range of resources and advice.

Diagnosing ASD in adults

Some people with ASD grow up without their condition being recognised, but it’s never too late to get a diagnosis. Some people may be scared of being diagnosed because they feel it will “label” them, and lower other people’s expectations of them.

But there are several advantages to getting a diagnosis. It helps people with the condition and their families understand ASD and decide what sort of support they need. A diagnosis may also make it easier to access autism-specific services and claim benefits.

See your GP if you think you may have ASD and ask them to refer you to a psychiatrist or clinical psychologist. The National Autistic Society website has information about being diagnosed with ASD if you’re an adult.

If you’re already seeing a specialist for other reasons, you may want to ask them for a referral instead.

Read more about diagnosing ASD in adults and advice for adults living with ASD.

You can also read the NICE guidelines about the recognition, referral, diagnosis and management of adults on the autism spectrum (PDF, 267kb).