Autism and prenatal screening

The internet was ablaze last week with the news that health authorities in Western Australia (WA) have given approval for IVF clinics to 'screen' embryos to reduce the chances of a couple having a child with autism.

The Reproductive Technology Council will now allow certain women undergoing IVF treatment to be selectively implanted with female embryos only.

The rationale for this practice is that autism is more likely to affect males than females (approximately 4 males for every 1 female), and by selecting female embryos, the chances of this child developing autism are reduced.

The West Australian reported that: "only families at high risk of having a child with autism, such as families who already have two boys with severe autism, would be considered for embryo screening".

The reaction to this report was swift and furious, and came from all corners of the globe.

Some were concerned about the science underpinning this approach, and pointed to recent evidence that autism may be under-diagnosed in females, and that the gender imbalance in autism may not be as skewed towards males as we once thought.

These critics argue that the selective implantation of female embryos may not actually reduce the chances of a child developing autism.

Others opted for a more extreme attack on health professionals and families, branding the developments as eugenicist - a scientific discipline that advocates practises that are aimed at improving a population's gene pool.

The connotation of this label is a deeply negative one, and will be forever linked to Nazi regime, who used eugenics as a justification for the genocide of Jews, Gypies, homosexuals and others during World War II.

Prenatal screening for autism
This is an extraordinarily sensitive topic and the arguments on both sides of the debate are impassioned.

The concern about the current state of the science is valid. It is a very blunt technique to 'screen' embryos for autism based on sex alone.

Autism is likely to be caused by dozens of gene sets, perhaps in interaction with the environment. It is also quite possible, perhaps probable, that the genetic causes of autism are quite different between individuals.

There is absolutely a link between an individual's sex and their chances of developing autism, but this is only one factor among a constellation of others – many of which remain unknown to us.

To a certain extent, the concern about the validity of the current science is a moot point. Despite constant hype in the recent years, there is currently no genetic test for autism. Importantly, however, this won't always be the case.

The extraordinary developments in genetic technology in the recent past and the immediate future will undoubtedly lead us to a point, not too far from now, where we have the techniques and information to identify whether a person has autism by their genetic make-up alone.

Science is moving fast and this is a debate that needs to be had.

Pre-implantation genetic diagnosis/screening
And this is where we come to the argument about eugenics. Informed opinions are vital here, and it is important that we understand very clearly the exact technology that has been approved.

Pre-implantation genetic diagnosis/screening (PGD) is an IVF technique that occurs at the embryo stage prior to implantation.

An egg from a woman and a sperm from a man are combined outside of the body (i.e., in a petri dish) to create an embryo (a fertilized egg).

That embryo can then be 'screened' to determine whether its genetic make-up increases risk for a given disorder.

If an individual embryo is found to contain a genetic risk factor for this disorder, then it would not be implanted into the woman's womb.

This technique is used in many countries around the world to identify embryos that contain a gene mutation known to definitively cause a disorder, such as cystic fibrosis, haemophilia A and Huntington's disease.

PGD is not the abortion of a developing baby in the womb. It is the screening of fertilized eggs prior to being implanted in the womb.

Two sides of the debate
Understandably, PGD is a technique that causes concern within certain parts of the autism community. Some autism advocates argue that PGD will eventually be used to select autism out of the gene pool.

This is certainly something I would not want. I have forged dozens of friendships with autistic people and their families, and have seen first-hand the skills, talents, smiles and diversity these individuals bring to the lives of those around them. The world is immeasurably improved by their presence in it.

I also imagine how I would feel if I were a person with autism and I heard a discussion about prenatal screening for 'me'.

I imagine how I would feel if the 'all clear' had been given to screen embryos for short-sightedness or for extraversion, both of which are part of who I am.

Angry, outraged, and certainly more than a little unwanted.
The flip-side of the debate is that autism sometimes associated with significant disability that can affect quality of life.

It is without question that a person's life would be improved if they were free from intellectual disability, if they had the facility to communicate more freely, and if they had the capacity to live independently.

To want a person to live without disability does not diminish in any way our love for people in these circumstances, nor their irreplaceable importance in our lives.

Only a minority of our community know the challenges (and joys) of raising a child with significant disability. It is just plain wrong for people who have never been in this position to judge the wants and desires of those who have.

A debate that needs to be had
The discussion about PGD for autism and other developmental disabilities is an important moment in the intersecting paths of science and society.

It is a debate that requires considerable thought, a debate that needs to remain respectful, and a debate that must include autistic people and their families but the science is coming fast, and so above all, it is a debate that needs to be had.

Credit: Andrew Whitehouse at The Conversation AU

Autistic Children: Sleep education helps families

Parent sleep education is beneficial in improving sleep and aspects of daytime behavior and family functioning in children with autism spectrum disorders (ASD), according to a Vanderbilt study published in the Journal of Autism and Developmental Disorders.

Vanderbilt joined with the University of Colorado Denver and the University of Toronto to carry out a study of 80 children with ASD, ages 2-10 years, primarily focused on teaching parents the basics of sleep education.

Beth Malow

"We found that one hour of one-on-one sleep education or four hours of group sleep education delivered to parents, combined with two brief follow-up phone calls, improved sleep as well as anxiety, attention, repetitive behaviour and quality of life in children with ASD who had difficulty falling asleep," said study author Beth Malow, M.D., professor of Neurology and Pediatrics, and the Burry Professor of Cognitive Childhood Development.

"The parents also benefited; they reported a higher level of parenting competence after completing the education sessions. The one-on-one and group sessions showed similar levels of success. In contrast, an earlier study that simply gave parents a pamphlet without guidance on how to use it did not provide the same level of improvement in child sleep."

Before entering the study, all children were examined for medical conditions that could cause sleep problems, such as gastrointestinal disorders or seizures.

In the instructional sessions, parents learned about daytime and evening habits that promote sleep, including the importance of increasing exercise, limiting caffeine during the day and minimizing use of video games and computers close to bedtime.

Sleep educators helped parents put together a visual schedule for their children to help them establish a bedtime routine and discussed ways to help children get back to sleep if they woke up at night.

Malow, also a Vanderbilt Kennedy Center investigator, said future studies are needed to determine the best approaches for providing sleep education to families, including those related to telemedicine and Internet-based technologies.

Malow and her colleagues within the Autism Speaks Autism Treatment Network are also developing partnerships with local pediatric practices to provide training on sleep education.

Content from the sessions is available to download for free on the Autism Speaks website. A toolkit, "Strategies to Improve Sleep in Children with Autism Spectrum Disorders," and three Quick Tips sheets are currently posted here.

"We are grateful to Autism Speaks for all of their support with our research and our toolkit materials. With their support, we have been able to help many children with ASD and their families get the rest they need to be at their best during the day," Malow said.

"We are also appreciative to all of the families who participated in this research."

Recession onset spurs harsh parenting

The onset of the Great Recession and, more generally, deteriorating economic conditions lead mothers to engage in harsh parenting, such as hitting or shouting at children, a team of researchers has found. But the effect is only found in mothers who carry a gene variation that makes them more likely to react to their environment.

The study, conducted by scholars at New York University, Columbia University, Princeton University, and Pennsylvania State University's College of Medicine, appears in the journal Proceedings of the National Academy of Sciences (PNAS).

"It's commonly thought that economic hardship within families leads to stress, which, in turn, leads to deterioration of parenting quality," said Dohoon Lee, an assistant professor of sociology at NYU and lead author of the paper.

"But these findings show that an economic downturn in the larger community can adversely affect parenting—regardless of the conditions individual families face."

Dohoon Lee

The researchers found that harsh parenting increased as economic conditions worsened only for those with what has been called the "sensitive" allele, or variation, of the DRD2 Taq1A genotype, which controls the synthesis of dopamine, a behaviour-regulating chemical in the brain.

Deteriorating economic conditions had no effect on the level of harsh parenting of mothers without the 'sensitive allele'. Just more than half of the mothers in the study had the sensitive, or T, allele.

Likewise, the researchers found that mothers with the 'sensitive allele' had lower levels of harsh parenting when economic conditions were improving compared with those without the sensitive allele.

Irwin Garfinkel

"This finding provides further evidence in favor of the orchid-dandelion hypothesis that humans with sensitive genes, like orchids, wilt or die in poor environments, but flourish in rich environments, whereas dandelions survive in poor and rich environments," said Irwin Garfinkel, a co-author of the paper and the Mitchell I. Ginsberg Professor of Contemporary Urban Problems at the Columbia University School of Social Work (CUSSW).

The findings were based on data from the Fragile Families and Child Wellbeing Study (FFS), a population-based, birth cohort study conducted by researchers at Princeton and Columbia of nearly 5,000 children born in 20 large American cities between 1998 and 2000.

Mothers were interviewed shortly after giving birth and when the child was approximately 1, 3, 5, and 9 years old. Data on harsh parenting were collected when the child was 3, 5, and 9 years old. In Year 9, saliva DNA samples were collected from 2,600 mothers and children.

Harsh parenting was measured using 10 items from the commonly used Conflict Tactics Scale—five items measured psychological harsh parenting (e.g., shouting, threatening, etc.) and five gauged corporal punishment (e.g., spanking, slapping).

The researchers supplemented these data with measurements of economic conditions in each of the 20 cities where the FFS mothers lived.

Specifically, they examined city-level data on monthly unemployment rates, obtained from the Bureau of Labor Statistics' Local Area Unemployment Statistics, and the Consumer Sentiment Index, obtained from the Thomson Reuters/University of Michigan Surveys of Consumers.

In their analysis, they controlled for age, race/ethnicity, immigration status, educational attainment, poverty status, family structure, and child gender and child age (in months) at the time of interview.

The results showed that, contrary to common perceptions, harsh parenting was not positively associated with high levels of unemployment among those studied.

Rather, these behaviours were linked to increases in a city's unemployment rate and declines in national consumer sentiment, or confidence, in the economy.

The researchers concluded that it is the anticipation of adversity i.e the fear of losing one's job due to deteriorating economic conditions, that is a more important determinant of harsh parenting than poor economic conditions or even actual economic hardship a family faces.

Sara McLanahan

"People can adjust to difficult circumstances once they know what to expect, whereas fear or uncertainty about the future is more difficult to deal with," said Sara McLanahan, Princeton's William S. Tod Professor of Sociology and Public Affairs and a co-author of the paper.

In the past, researchers have focused on "bad" or "risky" genes and difficult environments without giving enough attention to how people with these genes may perform in high-quality environments, McLanahan said.

More information: www.pnas.org/cgi/doi/10.1073/pnas.1306440110

Dyslexia: Learning Difficulties examined

Learning difficulty, although sometimes called a learning disorder or learning disability, is a classification that includes several disorders, in which a person has difficulty learning in an expected or typical manner.

Learning difficulties;

• are rarely simple, there is normally additional complexity associated with the condition,
• can be isolating and reduces confidence and self esteem,
• can make life problematic for a person to learn as quickly or, more relevantly, in the same way, as others.
• are not indicative of cognition or intelligence level, only indicative of the need for alternative ways in which to learn.
• cannot be 'fixed' or 'cured', only managed,
• make people face unique challenges that last their entire lifetime.

Interventions may be used to help the individual learn or develop strategies that will foster their future success.

The causes of learning difficulties are not always well understood and not always apparent but selectively, some are;

• Common Causes of Learning Difficulties
• How Psychotherapy Can Help with Learning Difficulties
• Learning Difficulties in the DSM

Common Causes of Learning Difficulties
Learning difficulties range from mild, through varying degrees of complexity, to severe but, given support and understanding, people with learning difficulties can and do, lead very normal lives.

Many people with learning difficulties go on to hold very intellectually demanding positions and function at a very high level in our progressive societies.

Some causes of neurological impairments include:

• Accident in baby or childhood - may be caused by malnutrition, head injury or toxic exposure

• Heredity or Genetics - Certain conditions may run in the family

• Poverty - may be a result of a lack of parental reinforcement or affordability of support from specific medical or academic sources

• Problems during pregnancy and/or birth - may result from fetal exposure to alcohol or drugs, oxygen deprivation, anomalies developed in the brain, low birth weight, injury or illness or premature or prolonged labour

One major factor for many people who face learning difficulties is that they are unable to express their feelings easily in words and their actions may have to speak for them.

Their behaviour and moods may change and their inability to express themselves may result in depression, sadness, anxiety and other mental health issues, which are generally treated separately from the underlying condition.

A more 'holistic' view is always more beneficial to the management of your health and welfare and is particularly important in managing learning difficulties.

Can Psychotherapy Help with Learning Difficulties
A diagnosis of any learning difficulty may be potentially devastating to a person and their family.

Both the person who faces learning difficulties and their family members will need to learn coping skills for the difficulty as well as emotionally.

Stress associated with learning difficulties can accumulate which may make the coping process even more difficult and the selection of coping strategies inappropriate.

Learning difficulties are most often present over an entire lifetime, so learning effective and appropriate methods of coping are essential to successful management.

Psychotherapy and the teaching of behavioural strategies or techniques, often work best for individuals who struggle with learning difficulties.

For children, play therapy may be helpful if the therapist uses it to teach interaction techniques. Children and adults may also do well in therapy and most will benefit from joining a mutual support group.

Families and Dyslexia - Annabel Heseltine

Dyslexia4u's Blog

Dyslexia is genetic and present from birth; if someone in a family is dyslexic there is a 40-60 per cent chance that their children will also have dyslexia. Dyslexia is very individualistic with a number of different indicators, strengths and difficulties. It can therefore be extra stressful for parents with children who have differing support needs with in the one family.

Annabel Heseltine, daughter of Michael, recent article in The Telegraph explains the multi layers of dyslexia in a family context. The article talks of the differing educational needs of her children and how her father and brother have over come their own difficulties with dyslexia and capitalised on their strengths to be successful.

It is a useful insight into a family that Annabel says is “riddled with dyslexia” and hopefully it will be helpful to parents who are in similar circumstances.

Three of Annabel Heseltine’s children shared a problem with their famous grandfather: dyslexia. How best to deal with it? By Annabel Heseltine.