Why early diagnosis of autism should lead to early intervention

Research suggests children can be reliably diagnosed with autism before the age of two. It also shows that many of the behavioural symptoms of autism are present before the age of one.

These behaviours include decreased interest in social interaction, delayed development of speech and intentional communication, a lack of age-appropriate sound development, and unusual visual fixations.

Preliminary results of a study in the Wellington region indicate most children are diagnosed when they are around three years old. However, there is arguably little point of providing early diagnosis if it does not lead to evidence-based early intervention.

Early start

The Early Start Denver Model (ESDM) is a promising therapy for very young children (between one and five years) with, or at risk for, autism. ESDM uses play and games to build positive relationships in which the children are encouraged to boost language, social and cognitive skills.

Where ESDM differs most from traditional intervention is that behavioural teaching techniques are embedded within this play. This includes providing clear cues for a behaviour, and rewarding that behaviour. Parents, therapists and teachers can use ESDM techniques within the children’s play and daily routines to help them reach developmentally appropriate milestones.

For example, a child who does not yet talk, may be learning to reach for preferred items. A child who has a lot of language may be learning to answer questions like “what is your name?”.

Initial research conducted in the United States, where the model was developed, suggests that ESDM is particularly effective when implemented for more than 15 hours a week by trained therapists in the home environment.

Improved cognition in early childhood

The model was adopted in Australia where the government funds autism specific early childhood centres. Research conducted in these centres indicates that children receiving ESDM intervention from trained therapists show greater improvements in understanding and cognitive skills than children who were not receiving treatment.

In New Zealand there is no government funding for such therapy. As a result, the cost of providing this intensive level of early intervention is beyond the budget of most families. There is also a lack of trained professionals with the technical expertise to implement such therapies.

For these reasons, we are working with the Autism Intervention Trust and Autism New Zealand to develop a New Zealand-specific low-intensity approach to delivering ESDM. The team is using the research of what is effective overseas and is applying it within a New Zealand context.

Mainstream schooling

New Zealand takes an inclusive approach to education. The main goal of the research programme therefore is for children with autism and their families to receive support earlier so that they can get a better start in their development and go on to mainstream schools.

One project involves training kindergarten teachers in ESDM. Inclusion of ESDM strategies in kindergartens is the biggest unknown because there is little teacher training in New Zealand around how to best support children with autism in mainstream settings.

A second project involves providing parent coaching and then adding on a small amount of one-on-one therapy. This will provide some preliminary evidence as to whether adding a minimal amount of one-on-one therapy is any more beneficial that just coaching parents.

Each project involves examining specific measures of communication, imitation (a key early learning skill children with autism typically struggle with) and social engagement with others.

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Rest easy: Insomnia does NOT cause an early death

Rest easy: Insomnia does NOT cause an early death, finds largest study ever into lack of sleep

  • Review of more than 36m people found no evidence it affects mortality
  • But critic argues while most can cope with insomnia, it is serious for some
  • Insomnia is the most common sleep disorder; affects 10-to-30% of people 
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Insomnia sufferers should rest easy as the largest ever study into the lack of sleep found it does not cause an early death.

A review of more than 36million people revealed there is no evidence struggling to nod off or waking in the night affects mortality.

But a critic argues that while the majority may be able to cope with a few sleepless nights, for some the health consequences can be devastating.


The largest ever study into lack of sleep found insomnia does not cause an early death (stock)

In the first review of its kind, researchers from Flinders University, Adelaide, analysed 17 studies investigating a possible link between insomnia and mortality.

The studies were carried out all over the world for an average of 11 years. Most were made up of patients who self-reported insomnia, while some were officially diagnosed.

Insomnia was defined as either being frequent – struggling to nod off on three or more nights a week – or ongoing – sleeplessness lasting more than a month.

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Results suggest that while insomnia may lead to everything from depression and anxiety to diabetes and dementia, it does not actually affect a person’s lifespan.

The study was published in the journal Sleep Medicine Reviews. 

The researchers, led by Dr Nicole Lovato, believe this should reassure those who toss and turn at night that they are not more likely to pass away prematurely.

WHAT IS INSOMNIA?

Insomnia means you regularly have problems sleeping. It usually gets better by changing your sleeping habits.

You have insomnia if you regularly: find it hard to go to sleep, wake up several times during the night, lie awake at night, wake up early and can’t go back to sleep, still feel tired after waking up

Everyone needs different amounts of sleep. On average, adults need 7 to 9 hours, while children need 9 to 13 hours.

You probably don’t get enough sleep if you’re constantly tired during the day.

The most common causes of insomnia are: stress, anxiety or depression, excessive noise, an uncomfortable bed or alcohol, caffeine or nicotine.

Insomnia usually gets better by changing your sleeping habits. For example, going to bed and waking up at the same time every day, and only going to bed when you feel tired.

Source: NHS

But, they stress, only 17 studies were analysed, which all had a relatively short follow-up time. Longer trials are therefore required to confirm the findings.

They also note cognitive behavioural therapy, which aims to help insomniacs develop coping skills, correct attitudes about sleep and modify poor habits, remains the gold standard of treatment.   

But Dr Russell Foster, head of the Sleep and Circadian Neuroscience Institute at the University of Oxford, argues insomnia can be serious for some.

He told The Times: ‘We recently did a study on teenage sleep. If you just took the average, you would think, “What is all the fuss about?”.

‘However, if you look at the spread of the data you can see 30 per cent are showing really poor sleep.’

For these select few, insomnia may be extremely serious, he added.  

Insomnia is the most common sleep disorder, affecting between 10 and 30 per cent of people. 

It is generally defined as difficulty nodding off, staying asleep or feeling exhausted during the day. 

Previous studies have suggested a lack of sleep increases a person’s heart rate and the time between beats, which was thought to lead to an early death.

However, the current study’s authors argue evidence supporting this is limited, with many studies being small and not adjusting for factors such as smoking or obesity. 

This comes after scientists discovered a ‘sleep switch’ that may be essential to a decent night’s shut eye last month.

A cluster of cells in the region of the brain responsible for sleep become activated as mice are nodding off, according to a study by the Beth Israel Deaconess Medical Center.

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‘DNA origami’ triggers tissue generation in early development

In trying to decipher the “DNA origami” responsible for the generation of transplantable human skin, Stanford researchers have uncovered a master regulatory hierarchy controlling tissue differentiation.

A developing embryo faces the difficult task of concocting myriad tissue types—including skin, bone and the specialized glop that makes up our internal organs and immune system—from essentially the same set of ingredients: immature, seemingly directionless stem cells. Although some of the important players that provide direction to this transformation are known, it’s not been clear exactly how they work together to accomplish this feat.

Now, researchers at the Stanford University School of Medicine have identified a key regulatory hierarchy in which proteins called morphogens control gene expression by directing the looping of DNA in a cell. This looping brings master regulators called transcription factors in contact with specific sets of genes necessary to make particular tissue types.

Varying concentrations and types of morphogens cause different looping events, directing different cell fates much in the same way that railroad workers control the direction and eventual destination of a train car by connecting different portions of track.

Although the researchers were particularly interested in learning more about how to stimulate the production of a type of skin cell called keratinocytes to treat epidermolysis bullosa, a blistering skin disease with few treatments, they believe their findings may have implications for the derivation of other therapeutically useful tissue types.

“For the first time, we were able to see how morphogens and master transcriptional regulators work together to make specific cell types,” said Anthony Oro, MD, Ph.D., professor of dermatology. “We’ve always wondered how a transcription factor required for the production of vastly different cell types knows which genes to make into proteins in which situation. Now we’ve answered that question: morphogens help the master transcription factors hook up to the right targets. Changing the concentration or type of morphogen, or even the order in which they are added to a cell, causes dramatically different outcomes.”

A paper describing the research was published online Nov. 5 in Nature Genetics. Oro, who is also the Eugene and Gloria Bauer Professor, is the senior author. Postdoctoral scholar Jillian Pattison, Ph.D.; former postdoctoral scholar Sandra Melo, Ph.D.; and graduate student Samantha Piekos share lead authorship.

Putting body parts in the right place

Morphogens are responsible for the body patterning that ensures, for example, that a fly’s wing ends up on its thorax rather than the top of its head. They were the first important class of proteins identified in the early days of developmental biology, in part because their effect on a developing embryo is so dramatic. Subsequent studies showed that they work through the process of diffusion and can have different effects based on their concentration throughout the embryo. Cells that are near other cells making and releasing the morphogen are exposed to a much higher concentration than those farther away; as waves of varying morphogens overlap and interact, they direct the proper placement of legs, wings and the head, for example.

Soon, researchers also identified other types of proteins called master transcriptional regulators that bind to DNA to control the expression of specific genes throughout the cell. But they quickly learned that each of these regulators could spark the formation of vastly different cell types, and it was unclear how each regulator knew to favor the development of one tissue type over another.

Oro and his colleagues were studying the effect of two well-known morphogens involved in skin development—BMP4 and retinoic acid—on the activity of a master transcriptional regulator called p63 that is responsible for tissue types as diverse as skin, thymus and the lining of the esophagus.

In particular, they were interested in the process by which human embryonic stem cells can be triggered to develop into keratinocytes to form sheets of skin to repair the blistering and open wounds seen in people with epidermolysis bullosa. Previous attempts, although somewhat successful, yielded impure populations of cells that are difficult to use therapeutically. In search of a more reliable way to produce the cells, they wondered if they could generate keratinocytes by exposing the stem cells to a defined combination of morphogens and transcription factors. To do so, however, they experimented with when, and how much, of each component to add and watched how the cells reacted.

Complex, synergistic feedback loop

The researchers found that, although p63 is required to make skin cells from embryonic stem cells, it is not sufficient. In the absence of BMP4 or retinoic acid, nothing happens, even if p63 is snuggly bound to its landing pad on the DNA. However, when BMP4 or retinoic acid is added, the DNA conformation changes, and p63 begins transcribing skin-specific genes. This dependence of p63 activity on the presence of morphogens was unexpected and telling.

“Basically, p63 binds to the DNA, and then sits back and waits, twiddling its thumbs, until it is connected to specific genes by the morphogen-caused folding,” Oro said. “Or sometimes the DNA folds weeks or months in advance, and this foreshadowing sets up a particular differentiation plan, poising the chromatin to assume a specific fate when the transcriptional regulator is added.”

Additionally, the researchers discovered that exposing the stem cells to retinoic acid and BMP together also triggered the expression of p63, indicating a complex and synergistic feedback loop that controls skin development.

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