Archive for the ‘ Genetics ’ Category

Parenting Principle #7: Embrace Intervention

Monday, June 30th, 2014

What are the parenting principles for raising happy, well-adjusted children? Here the focus is on the importance of intervention.

Many parents of babies and toddlers grew up in an era of “wait and see” – the idea being to not focus too much on developmental milestones and wait until there was a strong signal that a baby or toddler may have a developmental issue. That has changed.

It’s still a reality that babies and toddlers develop at different rates. There is much more of a normal range for developmental milestones than there is hard and fast age markers. That said, there are benchmark milestones and ages that are useful checkpoints for potential evaluation and intervention.

What has changed? Two things. First, developmentalists have a much more sophisticated understanding of developmental milestones and early signs of potential problems, including early symptoms of autism, language delay, and motor delay. Second, early interventions are much more powerful and can be administered at younger ages. They can make a huge difference in a young child’s life.

Pediatricians are trained to screen at key ages for fundamental milestones. If your pediatrician suggests a developmental evaluation, it doesn’t mean that intervention will be necessary. It may be that the conclusion is to “wait and see.” But given the sophistication of modern evaluation and the success of early intervention, it’s very much worth letting professionals make that call.

More in This Series

Find the right pediatrician for your baby. 

Development Milestones: What to Expect at 6 Months
Development Milestones: What to Expect at 6 Months
Development Milestones: What to Expect at 6 Months

Add a Comment
Back To Red-Hot Parenting

Genes and Autism: New Challenges Ahead

Wednesday, May 21st, 2014

A new twin study of autism suggests that while genetics clearly play a key role , environmental factors are influential too – and in fact may be as important important.

This work – which involved analysis of twins in a large national database in Sweden – partially replicates a recent twin study of autism with US twins sample published in 2011. The only difference is the US study found evidence of “shared environmental” influences on autism – environmental factors that partially explain the similarity of twins (or siblings) independent of genetics. But in both cases, the heritability estimate (a statistical, not biological, metric) suggests that the sum effect of genes on autism is less than estimated in the past.

Overall, the implication is that we need to ramp up efforts to examine environmental contributions to autism – without diluting genetic research. This is easier said than done in a climate in which research funding continues to retract. The reduction of funding makes it harder to pursue the complex issues that require sorting out. Here’s a sampling of issues requiring further intensive investigation:

  • It is likely that there is no one “cause” of autism, such that there may be subtypes that are more strongly effected by genes than others. Testing out this idea would require very large samples – which requires substantial funding.
  • Isolating multiple genes that have “small effects” rather than finding one “disease gene” is still a tricky proposition (akin to looking for multiple needles in a haystack). Researchers continue to evolve biological and statistical approaches to achieve this – but again this work is costly.
  • The same complexities characterize efforts to isolate environmental contributors to autism. Bear in mind that the twin studies don’t identify the sources of the environmental effect – rather, they provide evidence suggesting that environmental factors are critically important and should not be ignored. Again – funding is needed for this.

As the estimated rate of autism continues to climb, and the science keeps telling us that the causes are varied and complex, we need to embrace the idea that funding is critical. Yet we continue to hear that funding for autism research is limited at the national level. Private organizations like Autism Speaks are making great strides but the effort required necessitates a national commitment to increase funding for research on autism. Disseminating that perspective to law makers is one way to try to provide the level of support necessary to examine the roots of a disease that affects more and more children each year.

Stay up-to-date on parenting news with our daily newsletter.

Early Signs of Autism
Early Signs of Autism
Early Signs of Autism

Nature and Nurture via Shutterstock.com

Add a Comment
Back To Red-Hot Parenting

Is Autism Being Overdiagnosed?

Monday, March 31st, 2014

The latest prevalence estimate of Autism Spectrum Disorder (ASD) – 1 in 68 – reignites conversation that we may be overdiagnosing ASD. In part, to some the estimate just feels too high based on clinical and personal experience. And there is worry that we may be flooding an already overwhelmed evaluation and treatment system.

These concerns echo the debates that surrounded the changes in diagnostic criteria that were introduced in the DSM-5 in May 2013 which, to some, were implemented to protect against overdiagnosis of ASD, as I described last December:

The reformulation of the diagnostic criteria – which led to a discontinuation of the category of Asperger Syndrome in favor of a broad-based category of Autism Spectrum Disorder (ASD) – spurred concerns that many youth would no longer qualify for a diagnosis and hence have their intervention options limited. Others suggested that more precise diagnostic criteria are needed to ensure that ASD does not get overdiagnosed. While we await empirical resolution via publication of well-designed studies, it’s clear that the DSM-5 debate will stand out as an important time in which we wrestled (again) with the best way to be inclusive in diagnosis without expanding diagnostic criteria too broadly.

As a result of the changes in DSM-5, it may be that a few years from now we will see a “recalibration” of the prevalence of ASD. The speculations have been that about 10% of children now diagnosed with ASD will no longer meet criteria.

What do we make of these changing estimates in the prevalence of ASD, which have increased tremendously over the past decade and may, sometime in the near future, begin to decrease? This complex issue does not lend itself to a singular answer.  Considering a number of points may help to provide some perspective on how we discuss this question.

PREVALENCE RATES FOR DISORDERS CAN BE “HIGH”

While, as noted above, clinicians, researchers, and policy makers often attempt to interpret the rate of a disorder as a means of ensuring appropriate diagnostics without overdiagnosing, the fact is that there is no magic number or prevalence rate for a disorder. Consider the following:

  • Epilepsy is estimated to affect somewhere between 4-10 per 1000 people; and nearly 10% of the population will experience a seizure in their lifetime
  • Asthma affects almost 10% of children
  • More than 8% of the population is reported to have diabetes

The point? Disorders which can be validated biologically can affect large numbers of people in the population. This means that they are common disorders – not overdiagnosed conditions. The implication for ASD? Simply put, an estimated prevalence of “1 in 68″, in and of itself, does not necessarily imply overdiagnosis.

RATES CAN CHANGE OVER TIME

Part of the concern with the rate of ASD is that it has changed so much over the past decade. The estimates made by the Centers for Disease Control and Prevention (CDC) have gone from 1 in 150, to 1 in 110, to 1 in 88, and now to 1 in 68.  The rates of asthma have also gone up over the past decade, though not nearly as dramatically as those for ASD. A combination of factors have influenced this increased prevalence of asthma, including better recognition and diagnosis, changes in the definition of the disorder, and possibly increases in pathogens in the environment. The takeaway here is that an increase in prevalence over time is not a sufficient argument for overdiagnosis.

THE KEY CONCERN IS THE ROOT OF THE INCREASE OVER TIME

The crux of the debate about ASD is that we may be artificially increasing the prevalence. To consider this point, we need to focus on two two related factors that are primarily responsible for the dramatic changes in ASD prevalence.

First, there is much better screening, recognition, and evaluation. This is a positive step forward – early evaluation leads to early intervention. But as noted in the most recent CDC report, there are still children (primarily those in specific ethnic groups) who are not diagnosed at the same “high” rate as others. So simply lowering the bar for early evaluation is not necessarily a good step forward, and in fact may be counterproductive for many children in the population.

Second, there has been an increase in diagnosing “higher functioning” ASD, that is, ASD without a compromised cognitive level. This is where the conversation about overdiagnosis starts – and where the DSM-5 may lead to a reduction in prevalence over time. The sticky point is that as ASD, by definition, is recognized to occur along a spectrum of severity, it becomes hard to know where to draw the line. At what point would we be missing cases that could profit from intervention? At what point are we pathologizing normative variation in social functioning? There is where we need more informative data on the impact of interventions for those diagnosed and more pointed discussion.

Let’s look at a very different example – potential changes in how high blood pressure is being diagnosed in those 60 years of age and older. New guidelines have suggested that the target blood pressure for determining treatment is 150/90, as opposed to 140/90. The result would be that millions of adults over 60 would no longer be “required” to take medication for high blood pressure. This is a current controversy in medicine and it is being debated. The point here is that the biomedical and health sciences have to make these kinds of decisions for many disorders, and that controversies continue to arise. In other words, these are not simple issues, and they are not resolved easily. We continue to gather more information and bring more opinions to the table to come up with our best practices – and this same principle applies to the current and future conversations about ASD.

SO IS ASD BEING OVERDIAGNOSED?

Right now, this is an important question to ask, but rather than demand an answer, we need to gather more informative data and have more informed discussions that go beyond the prevalence rate. We have these discussions frequently about attention-deficit hyperactivity disorder (ADHD), and they continue. We worry that too many kids are being arbitrarily diagnosed with ADHD and that we may artificially inflate rates of ADHD by making inappropriate demands of toddlers and young children. The concern with ADHD is that we may be preventing kids from being kids, slapping them with inappropriate labels, and giving them medications that are not needed.

The concern with ASD is somewhat different. We are not over-medicating youngsters who are receiving a diagnosis of ASD, particularly those who are “high functioning.” We are offering behavioral interventions to improve social and cognitive skills. What we need to know is if some kids who would receive these kinds of interventions don’t need them or don’t profit from them. That’s essentially the tipping point in the argument described above about how to define high blood pressure. We should move beyond the prevalence rate and begin to look more closely at the efficacy of interventions and if there are better ways to define which kids can be best served by a diagnosis.

But what we don’t want to do is arbitrarily decide that the prevalence rate is “too high” and that we need to lower the bar for screening and evaluation. That would be a big mistake and undermine all the progress made to date in early surveillance and early intervention. Whatever the “true” prevalence rate is (and it will be a moving target), what we do know is that many young children can profit from early intervention and that we need to keep momentum going on understanding more about the causes of ASD, how to best diagnosis it, and how to develop even more powerful interventions.

Autism via Shutterstock.com

Track your baby’s growth with our Baby Milestone Tracker.

Early Signs of Autism
Early Signs of Autism
Early Signs of Autism

Add a Comment
Back To Red-Hot Parenting

“Partners In Crime”: When Sibs Get In Trouble Together

Monday, November 25th, 2013

When discussing the 4 types of sibling relationships, the unique profile of siblings who have high levels of both positivity and negativity in their relationship was flagged. Why is this group particularly salient to researchers who study siblings? Because they are more likely to get in trouble – together. 

The idea was formalized decades ago by the late Dr. David Rowe. He was studying twins and examining their similarity for delinquent behavior during the teen years. He found that twins were very much alike in this regard – if one twin was getting into trouble, the other twin was likely to do so as well. But the key observation was that this similarity was not due to genetics – something the twin design gets at by comparing identical and fraternal twins. Similarity for DNA didn’t matter much. What mattered was how much time the twins spent together, and if they had common friends.

Now of course just spending time together with a sibling doesn’t promote delinquency. Over the years, research has shown that the combination of both high positivity – hanging out, having fun, having common friends – and high negativity – fighting, arguing – signals the possibility of rule breaking behavior in the teen years. Observational research shows how this can happen.  These sibs end up laughing and fighting at the same time – and they end up enjoying and reinforcing each other’s negative behaviors (one hits, the other laughs, hits back, they laugh). Getting into trouble becomes fun. Other studies show how this becomes a mechanism by which an older sibling introduces a younger sibling to substances at very early ages – ages which are problematic. These influences are most prominent when sibs are closer in age (typically within a few years) – but the principle applies to both brothers and sisters (so it’s not just limited to boys).

So what’s a parent to do? How do you know if what’s going on is just part of the complex sib relationship – or the foundation for legal difficulties in the teen years? A few things to keep in mind. First, maintain good limit setting and monitoring – sibs can join forces and undermine parental efforts. Second, don’t let the negative get out of hand in the early years. Just because it’s normative for sibs to argue and fight now and then doesn’t mean it should define their relationship – it becomes habit and carries over to other social relationships. Third, keep an eye on what the older sib is introducing to the younger sib – no 12-year-old should be exposed to drinking or substances.

While sibling relationship features don’t guarantee developmental pathways, having insight into the ways in which the sibling bond can lead to problem behaviors.

What You Need to Know About Birth Order
What You Need to Know About Birth Order
What You Need to Know About Birth Order

Twins Fighting via Shutterstock.com

 

Add a Comment
Back To Red-Hot Parenting

Decreasing Eye Contact In Infancy: An Early Indicator Of Autism?

Thursday, November 7th, 2013

Early diagnosis of autism spectrum disorders (ASD) offers the promise of early intervention – with the premise being the earlier, the better. New research suggests that we may be on the horizon of finding signs of ASD in the first 6 months of life. Here’s the breakdown of why this study – which examined attention to eyes in infants as a predictor of a diagnosis of ASD in toddlerhood – is so important.

Why Is This Study Design Powerful?  This study – which builds on substantial prior research on eye contact in ASD – uses a powerful longitudinal design to search for the early signs of ASD in infants, including some at high risk (babies of older siblings with ASD). These design features give confidence in the results – the sampling frame goes from early infancy through the typical age of first diagnosis of ASD, and the high-risk component ensures enough cases to draw meaningful conclusions. And the construct of interest – attention to eyes – has been well-studied, is theoretically grounded, and can be measured with precision.

Why Are The Findings Provocative? Two reasons. First, while ASD (or the risk, or liability, to develop ASD) is assumed to be present at birth, early signs of ASD have been elusive. This study offers hope that by detecting a lack of attention to eyes in the first 6 months of life may offer one potentially powerful screen for risk for ASD. But there’s more. An especially novel finding is that infants later diagnosed with ASD started out in life attending to eyes – but that that ability declined over time. This may eventually be a clue in terms of underlying brain mechanisms – and it also suggests that if these fundamental mechanisms are “in tact” at birth and then decline, perhaps there is even more room for change with very early intervention. Either way, a strong signal of risk in the first 6 months of life may be translated – perhaps rapidly – into very early intervention strategies.

What’s The Take-Home Message? Parents have been encouraged to be mindful of some of the signals of risk for ASD in the early years – including 7 early signs of ASD. Although this study has not yet led to formal recommendations for parents, it does suggest how important face-to-face interaction is during infancy – and also highlights that parents should be vigilant about seeing how their baby reacts when eye contact is expected. The way a baby looks at the human face changes a lot over the first year in life – but the constant is that they spend a lot of time looking at it. The suggesting from this new research is that babies at risk for ASD show a decrease in their interest in the face during infancy. If this is happening, it is certainly worth bringing to the attention of a pediatrician, who will be positioned to look for other developmental milestones and indicators.

What’s The Future? Research studies are especially influential if they give a glimpse into the future. Here the hope is that a screening protocol can be developed to route infants into very early intervention – a developmental time that may hold promise for a lot of plasticity and response to intervention. Bear in mind that some of the most exciting findings to date about intervention – based on application of the Early Start Denver Model (ESDM) – demonstrated that one of the results of intensive intervention is changing the brain response to the human face, with normative patterns of brain activity achieved in some cases. Starting that process in infancy might lead to even more effective intervention programs for ASD.

Early Signs of Autism
Early Signs of Autism
Early Signs of Autism

Mom and Baby via Shutterstock.com

 

 

Add a Comment
Back To Red-Hot Parenting