FASD: Heart defects caused by altered function, not structure?

Recent data shows that more than 500,000 women in the U.S. report drinking during pregnancy, with about 20 percent of this population admitting to binge drinking.

Even one episode of heavy drinking can lead to the collection of birth defects known as fetal alcohol syndrome (FAS).

Along with growth retardation, head and face abnormalities, and neurological problems, FAS also causes heart problems in just over half of those with this condition.

Though much research has focused on looking for the cause of these alcohol-induced heart defects, they remain largely a mystery.

To investigate this question, Ganga Karunamuni of Case Western University and her colleagues studied heart formation in quail embryos, whose heart development is very similar to that of humans.

The researchers used an innovative imaging technique, optical coherence tomography, to compare embryos exposed to a single, large dose of alcohol to those who hadn't received alcohol.

They looked both at how alcohol changed the function of the developing hearts as well as their structure.

They found that significant changes in heart function appeared to come well before changes in structure that are hallmarks of the well-known FAS heart anomalies.

These changes in function, the study authors suggest, might be the cause of the structural problems that arise later by exerting forces on the heart that change its development.

The article is entitled "Ethanol Exposure Alters Early Cardiac Function in the Looping Heart: A Mechanism for Congenital Heart Defects?"

It appears in the Articles in Press section of the American Journal of Physiology – Heart and Circulatory Physiology, published by the American Physiological Society.

Results
As expected, the researchers found that the hearts of embryos exposed to alcohol had dramatic defects close to hatching, including thinner walls separating the heart's four chambers and damaged valves.

Long before these defects formed, the researchers saw significant differences in heart blood flow between embryos that weren't exposed to alcohol and those that were.

In those whose shells weren't injected with alcohol, a small portion of the blood flowed backward through the heart circuit after each beat.

In those exposed to alcohol, a much larger portion of blood flowed backward in the circuit.

These malfunctioning hearts had smaller "cardiac cushions"—collections of cells that later become chamber walls and valves—compared to unexposed hearts.

More information: ajpheart.physiology.org

Landmark NIMH ADHD study backed drugs over therapy at a cost

Many children with attention-deficit hyperactivity disorder (ADHD) may have missed out on valuable counseling because of a widely touted study that concluded stimulants such as Ritalin or Adderall were more effective for treating the disorder than medication plus behavioral therapies, experts say.

That 20-year-old study, funded with $11 million from the U.S. National Institute of Mental Health, concluded that the medications outperformed a combination of stimulants plus skills-training therapy or therapy alone as a long-term treatment.

But now experts, who include some of the study's authors, think that relying on such a narrow avenue of treatment may deprive children, their families and their teachers of effective strategies for coping with ADHD.

"I hope it didn't do irreparable damage," study co-author Dr. Lily Hechtman, of McGill University in Montreal, stated. "The people who pay the price in the end [are] the kids. That's the biggest tragedy in all of this."

Professionals worry that the findings have overshadowed the long-term benefits of school- and family-based skills programs.

The original findings also gave pharmaceutical companies a significant marketing tool—now more than two-thirds of American kids with ADHD take medication for the condition.

And insurers have also used the study to deny coverage of psychosocial therapy, which costs more than daily medication but may deliver longer-lasting benefits.

An insured family might pay $200 a year for stimulants, while individual or family therapy can be time-consuming and expensive, reaching $1,000 or more.

About 8 percent of U.S. children are diagnosed with ADHD before the age of 18, according to the U.S. Centers for Disease Control and Prevention.

People with the condition may have trouble paying attention, often act without thinking and may be hyperactive, making school work and the acquisition of essential skills extremely difficult.

Drugs that improve attention make it easier for the children to learn, but when the drug wears off or if the users stop taking the drugs, benefits are less apparent.

Some experts today cite limitations of the original study, which looked at classic ADHD symptoms such as forgetfulness and restlessness over academic achievement and family and peer interactions.

This gave medication an edge over therapy from the get-go, several people involved with the study reported.

"When you asked families what they really liked, they liked combined treatment," said Dr. Peter Jensen, formerly head of child psychiatry at the National Institute of Mental Health (NIMH) who oversaw the study for the institute.

"They didn't not like medicine, but they valued skill training. What doctors think are the best outcomes and what families think are the best outcomes aren't always the same thing."

For the study, the NIMH enlisted more than a dozen experts to determine the best ADHD treatment.

Close to 600 children with ADHD, aged 7 to 9, received one of four treatments for more than a year: medication alone, behavioural therapy alone, a combination of both treatments, or nothing in addition to their current treatment.

The study authors concluded in a 1999 paper that medication was superior to behavioural treatment.

But when the children in the study were followed into adulthood, the study results looked less conclusive.

Use of any treatment "does not predict functioning six to eight years later," a follow-up paper from the study determined, the Times reported.

Childhood Autism: English Arsonists destroy boy's Xmas surprise treat

An arson attack which destroyed a sensory room built as a Christmas present for a severely autistic boy has been condemned as a "disgusting and cowardly crime".

Fiona and Wesley Ratcliff, from Woodhouse Park in Wythenshawe, Manchester, had spent the last two weeks transforming the summer house into a safe play space for their seven -year-old s on Harvey, who suffers from Phelan-McDermid syndrome, (22q13) a rare genetic disorder.

They had planned to show Harvey the sensory room for the first time on Christmas Day, but instead they discovered it had been destroyed in an arson attack.

Wesley Ratcliff, 32, said: "Everyone was devastated. We had family come down from Scotland. They had put in the money towards helping us build it. They had all come down to see his face.

"We are all in shock. The consequence with what could have happened; it being so close to the house - I think we are lucky."

A guinea pig hutch next to the summer house had also been set alight, but the two guinea pigs escaped unharmed.

Mr Ratcliff, who is a support worker with autistic adults, said: "We bought the summer house at the beginning of the month, and the idea was to get it up and ready for Christmas.

"We painted it, put the flooring down, put the lights in, decorated it with pictures and painted it sky blue because Harvey is a Manchester City fan. It was just somewhere where he could go when he was having a hard time. I had put the final touches in on Christmas Eve."

But yesterday morning Mr Ratcliff found that the summer house had been destroyed by a fire.

He said: "The disco lights and a digital radio had been stolen. We had put soft floor mats inside which were completely burnt by the fire. The bean bag chair and a little stool and easel table were all destroyed as well.

"My opinion is that we have not been targeted, but that it was just a random attack. It was probably just some drunk teenagers, a one off. My wife is really upset and she is scared about being alone with the kids in the house."

Detective Inspector Jane Curran said: "This truly is heartbreaking, the family, like every other family across Greater Manchester, were really looking forward to showing their son his Christmas present when they woke on Christmas Day.

"Whoever did this really has no morals whatsoever.

"It is a disgusting and cowardly crime and I really would like anyone who may have seen anything or who has any information about this to contact us.

"Thankfully we think that the weather overnight extinguished the fire otherwise we may have been dealing with a much more serious incident yesterday."

Revised checklist improves detection of autism in toddlers

The Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F) is an effective screening tool for autism spectrum disorders (ASDs) in low-risk toddlers, according to research published online Dec. 23 in Pediatrics.

Diana L. Robins, Ph.D., of Georgia State University in Atlanta, and colleagues used the M-CHAT-R/F to screen 16,071 toddlers at 18-month and 24-month well-child care visits.

M-CHAT-R/F uses an algorithm based on three risk levels and is intended to reduce age of diagnosis and hasten early intervention.

The researchers found that the M-CHAT-R/F was reliable and valid.

Children scoring 3 or higher at initial screening and 2 or higher at follow-up had a 47.5 percent risk of being diagnosed with ASD and a 94.6 percent risk of having any developmental delay or concern.

According to the report, compared with the original M-CHAT, the revised tool detects ASD at a higher rate and reduces the number of children who need follow-up.

In the current study, children received a diagnosis of ASD at an age that was two years earlier than the national median age of diagnosis.

"The M-CHAT-R/F detects many cases of ASD in toddlers; physicians using the two-stage screener can be confident that most screen-positive cases warrant evaluation and referral for early intervention," the authors write.

Several study authors disclosed financial interests in the M-CHAT.

More information: 'Validation of the Modified Checklist for Autism in Toddlers, Revised With Follow-up (M-CHAT-R/F)' peds.2013-1813.full.pdf/html 

Diagnosing Autism: A better approach

Mary Beth Bruder, director of the A.J. Pappanikou Center for Excellence in Developmental Disabilities Research, demonstrates one of the techniques she would use to diagnose an autistic child. 

Credit: Shawn Kornegay /UConn Photo

As the number of children with autism increases nationwide, the need for effective and consistent clinical diagnosis is growing.

A statewide committee recently published new guidelines designed to ensure health professionals, educators, parents, and all involved in diagnosing a child with autism are using proven and consistent practices.

The guidelines stress, among other things, that effective autism diagnosis and treatment requires a collaborative approach.

Mary Beth Bruder, a professor in UConn's Neag School of Education and in the UConn School of Medicine, was co-chair of the committee, which spent four years developing the "Connecticut Guidelines for a Clinical Diagnosis of Autism Spectrum Disorder."

"Diagnosing autism doesn't require a snapshot, it requires a comprehensive, interdisciplinary look at the child," says Bruder, who heads a doctoral program in early childhood intervention in the Department of Educational Psychology and is director of UConn's A.J. Pappanikou Center for Excellence in Developmental Disabilities Research, Education, and Service.

"Physicians, educators, social workers, and speech pathologists are among the many professionals that should be involved in first the diagnosis, and then the treatment of a child with autism. A complete picture is required. And parents play a crucial role."

Laura Kern, a third-year doctoral student in educational psychology at the Neag School, is both the mother of a 9-year-old son with autism and one of the parents involved in providing the data and insights needed to craft the new guidelines.

She says one of the things she learned during her son's diagnosis is that as many as 51 percent of parents report dissatisfaction at the lack of continuity in the process.

The new Connecticut guidelines provide a step-by-step, interdisciplinary guide.

"The guidelines address parents' concerns in a systematic way, and if you approach a diagnosis systematically, you're more likely to reach needed services and early interventions more effectively and efficiently," Kern says.

"It was incredible to be part of the process of creating the guidelines, and to see so many different state agencies, parents, and professionals come together to create a united message about what a good diagnosis should look like."

Funded with an $86,000 grant from the U.S. Centers for Disease Control and Prevention (CDC), the guidelines are the result of a collaboration among members of the Connecticut Act Early Project, a partnership that includes experts from a wide range of leading childhood health and disabilities agencies, including the National Center on Birth Defects and Developmental Disabilities (NCBDDD).

The rising number of children with autism makes this extremely important work, Bruder notes.

"Scientists are working very hard to determine why this increase is happening," she adds, "but essential to the process is consistency in how these diagnoses are being made.

Autism affects every aspect of a child's life, so it only makes sense to have people from each of those areas involved in realizing the positive outcomes that can come from appropriate and early interventions."

Education experts give tips on apps for your kids

Kids these days have a penchant for high-tech and would rather play with smartphones and tablets than board games and building blocks.M

And they start younger and younger. A whopping 83 percent of children age 6 and younger use some form of screen media, according to the Kaiser Family Foundation.

Although screen time has been linked with diminished creativity, childhood obesity, sleep disturbance and the like, it doesn't all have to be negative, said University of Alabama at Birmingham education experts.

"When used appropriately, technology and media can enhance children's cognitive and social abilities," said Jennifer Summerlin, an instructor in the UAB School of Education.

"Interactions should be playful and support creativity, exploration and authentic learning."

Summerlin offers some tips and to help ensure children make the most of their screen time:

• Have a plan: When choosing media for your child, be informed and intentional and make appropriate choices. It should be appropriate for their age, individual nature, cultural upbringing and linguistic abilities.
• Make sure their brain is put to work: Select apps that are active, hands-on, engaging, empowering and give the child control.
• Enable fun: Be sure to provide your child with any accessories needed to make the device easy to use.
• Don't let the app be the sole teacher: Let the device be one of many other options to support learning.

UAB instructor and elementary school teacher Allison Hodges, Ph.D., recommends these applications for toddlers and preschool-age children:

• Peekaboo Barn introduces children to animal names using the familiar peek-a-boo game.
• I Hear Ewe is a library of animals, modes of transportation and their sounds.
• Starfall ABC's is an alphabet-teaching app that works well.
• AlphaTots is an excellent tool for helping children learn the alphabet.
• ABC Alphabet Phonics helps children learn their ABCs by sight, sound and touch.
• Elmo Loves 123's is designed to teach preschoolers numbers from one to 20.
• Starfall Learn to Read teaches kids the basics of reading.
• Teach Me Toddler drills kids on letters, numbers, shapes, colouring and counting.

Hodges suggests these applications for elementary school-age children:

• Toontastic allows children to create amazing multi-scene cartoons with musical scores.
• ABCmouse.com lets children explore the habitats of various animals.
• Stack the States makes learning the 50 states fun.
• Marble Maths Junior uses fun mazes to teach kids to solve math problems.
• Marble Maths, based on the Common Core Curriculum, is an engaging way to learn mental maths.
• Numbers League lets kids practice basic math facts while helping superheroes fight evil villains.
• Questimate! is a math-estimation game that directly involves kids in making word problems with just enough guidance to keep the problems relevant and challenging.

TOSCA Study: Concerta® and Risperdal®, help adolescents with ADHD, aggression

Prescribing both a stimulant and an antipsychotic drug to children with physical aggression and attention-deficit/hyperactivity disorder (ADHD), along with teaching parents to use behaviour management techniques, reduces aggressive and serious behavioural problems in the children.

This is the result of a study conducted by researchers at the Ohio State University Wexner Medical Center.

The study was conducted in conjunction with the University of Pittsburgh, Stony Brook University in New York and Case Western Reserve University in Ohio.

The findings published online this week ahead of publication in the January issue of the Journal of the American Academy of Child and Adolescent Psychiatry.

"Combination pharmacotherapy is becoming common in child and adolescent psychiatry, but there has been little research evaluating it," said first author Michael Aman, director of clinical trials at Ohio State's Nisonger Center and emeritus professor of psychology.

"Our findings may be considered somewhat controversial because they appear to support the use of two drugs over one for treating children with aggression and disruptive behaviour when things do not seem to be going well.

Many practitioners have been taught to 'Keep things simple and safe' in their medical training. In general, this is good advice."

For the "Treatment of Severe Childhood Aggression (TOSCA) Study," 168 children ages 6 to 12 who had been diagnosed with ADHD and displayed significant physical aggression were divided into two groups.

All study participants received a psychostimulant drug called OROS methylphenidate (Concerta®) and their parents received behavioural parent training for nine weeks.

The researchers called this treatment combination "basic" because both are evidence-based and have been shown to be helpful for improving both ADHD and aggression.

Researchers wanted to see if they could expand or augment this treatment by adding a second medication. If there was room for improvement at the end of the third week, a placebo was added for the "basic group," while the antipsychotic drug Risperidone (RISPERDAL®) was added for participants in the "augmented group."

Compared to the "basic group," the "augmented group" who received the stimulant drug and parent training plus risperidone showed significant improvement (on average with moderately better behaviour) on the Nisonger Child Behavior Rating Form (NCBRF) Disruptive-Total Scale, the NCBRF Social Competence subscale and the Reactive Aggression part of the Antisocial Behaviour Scale.

While there is always some risk with the addition of a second drug to the treatment package, the two drugs seemed to neutralize some of each other's potential side effects.

For instance, children in the augmented group did not seem to have as much trouble falling asleep, once the risperidone was added, Aman said.

"We conducted this study because we viewed the combination of ADHD and significant physical aggression – especially the aggression – as a serious situation," Aman said.

"It is not uncommon to use more than one medicine for other serious situations, such as when treating cancer or epilepsy for instance."

"Although doctors have often used stimulants and antipsychotics together in recent years, we did not have good evidence until now that they would work more effectively when carefully staged and given together."

More information: "Treatment of Severe Childhood Aggression (TOSCA) Study,"

Clinical histories reveal surprising evidence of multiple, distinct 'autisms'

Simple patterns can emerge from even the most chaotic, complex data.

Analyzing the electronic medical records of thousands of patients diagnosed with autism spectrum disorder, or ASD, a group of researchers at the Harvard Medical School Center for Biomedical Informatics found three distinct kinds of autism, which suggests that "autism" is perhaps an umbrella term comprising several illnesses with different genetic and environmental causes and different potential treatments.

Isaac Kohane

"Rather than there being one 'autism,' these findings show that there are several autisms, each with its own specific course," said Isaac Kohane, the Lawrence J. Henderson Professor of Pediatrics at Boston Children's Hospital, co-director of the Center for Biomedical Informatics and leader of the research team. The results appeared Dec. 9 in Pediatrics.

By separating diagnoses out in six-month segments over the first 15 years of each child's life, the researchers found one group of patients whose autism symptoms were associated with epilepsy and other seizure disorders.

In a second, ASD patients had increased rates of bowel and infectious ear and respiratory symptoms.

In a third, children had higher levels of psychiatric disorders, including ADHD, depression and schizophrenia.

NB: A fourth group of patients could not be further characterized due to statistical limitations of the available data.

The patterns of symptoms in the first three groups also correlated with different levels of expressive language disorder, timing of developmental delays and other core diagnostic measures for ASD.

Just as an understanding of the whole suite of symptoms that accompany a fever is crucial for determining whether a patient has strep or flu, Kohane said, it's crucial to understand the entire complex of symptoms associated with the different subsets of ASD in order to advance our understanding of what causes autism.

"Doing a genetic study of 'autism' is like studying fever and looking for a single cause," Kohane said.

Since most primary caregivers might see only a few ASD patients, and since the symptoms manifest differently at various periods of the child's development, having a massive, shareable database of clinical data in searchable electronic medical records was crucial to making sense of the complex picture of autism.

In a previous study, Kohane and colleagues used the Shared Health Research Information Network (SHRINE), a web-based query tool, to analyze 15,000 electronic health records of patients with ASD from HMS-affiliated hospitals.

They found that people with ASD suffer from a higher burden of seizures, psychiatric illness and gastrointestinal disorders than the general population.

While parents of children with autism and other patient advocates had long suggested that this was the case, the smaller population studies conducted without information infrastructure like SHRINE were not able to find evidence that incidences of these illnesses were significantly correlated with ASD.

This current study builds on Kohane's previous findings by showing that the related illnesses are not distributed randomly throughout the ASD population.

"The next step is to look at these subgroups to search for common genetic or environmental factors," Kohane said.

Electronic medical records shared in a flexible, open-source database like SHRINE provide a bird's-eye view of the medical system that offers researchers unique insights into disease and treatment.

"We spend tons of money to construct these databases and open record-sharing systems," Kohane said.

"We should take advantage of all that data not just to bill people for our services, but to better understand and treat disease."

More information: "Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health Record Time-Series Analysis." Finale Doshi-Velez, PhDa, Yaorong Ge, PhDb, and Isaac Kohane, MD, PhDa. Pediatrics, December 9, 2013. DOI: 10.1542/peds.2013-0819

Antidepressant drug use during pregnancy not linked to autism

Large study finds little connection between mother's use of drugs like Prozac and children's autism risk.

Despite some concerns to the contrary, children whose moms used antidepressants during pregnancy do not appear to be at increased risk of autism, a large new Danish study suggests.

The results, published Dec. 19 in the New England Journal of Medicine, offer some reassurance, experts said.

There have been some hints that antidepressants called selective serotonin reuptake inhibitors (SSRIs) could be linked to autism.

SSRIs are the "first-line" drug against depression, and include medications such as fluoxetine (Prozac), sertraline (Zoloft), citalopram (Celexa) and paroxetine (Paxil).

In one recent U.S. study, mothers' SSRI use during pregnancy was tied to a twofold increase in the odds that her child would have autism. A Swedish study saw a similar pattern, though the risk linked to the drugs was smaller.

But both studies included only small numbers of children who had autism and were exposed to antidepressants in the womb.

Anders Hviid

The new study is "the largest to date" to look at the issue, using records for more than 600,000 children born in Denmark, said lead researcher Anders Hviid, of the Statens Serum Institute in Copenhagen.

And overall, his team found, there was no clear link between SSRI use during pregnancy and children's autism risk.

Hviid cautioned that the finding is still based on a small number of children who had autism and prenatal exposure to an SSRI—52, to be exact.

The researchers noted that it's not possible to rule out a small increase in autism risk.

But, Hviid said, "at this point, I do not think this potential association should feature prominently when evaluating the risks and benefits of SSRI use in pregnancy."

Christina Chambers

Commenting on the findings, Christina Chambers, director of the Center for the Promotion of Maternal Health and Infant Development at the University of California, San Diego, stated, "I think this study is reassuring."

One "important" point, Chambers added, is that the researchers factored in mothers' mental health diagnoses—which ranged from depression to eating disorders to schizophrenia.

"How much of the risk is related to the medication, and how much is related to the underlying condition?" Chambers said. "It's hard to tease out."

More Information: 'Use of Selective Serotonin Reuptake Inhibitors during Pregnancy and Risk of Autism': doi/full/10.1056/NEJMoa1301449

Rapid Automized Naming (RAN) tests: A study on dyslexic versus average children

In an article by Zoccolotti, De Luca, Lami et al, published in Child Neuropsychology, Rapid Automized Naming (RAN) tests were conducted on 43 average children and 25 with developmental dyslexia.

The task involved naming colours, digits, pictures words and word lists displayed multiple times and in discrete form.

Participants' response times and error rates were recorded. Dyslexic children not only have trouble identifying strings of letters, but also programming eye movements and synchronizing speech output.

Thus reading is a multiple component task presenting difficulty for dyslexic children. During the article the authors outline the results of the tests and analyse reasons for the differences between the two groups.

Children chosen to participate were comparable for age, gender and IQ. They were required to read a passage aloud for 4 minutes and scores were taken for speed and accuracy.

Children were also asked to identify colours and numbers, in both discrete and multiple forms. Finally children were given 5 letter and 7 letter words to read, both in singular fashion and in lists. Participants were individually tested.

Single stimuli tests were conducted on a pc, children requested to name colour, shape or word as fast and as accurately as possible. Multiple stimuli tests were given on paper and children were timed with a stopwatch and errors noted.

In typically developing children, during discrete and multiple naming tests, errors such as hesitation, self-correction and word substitutions accounted for 1.4% and 7.3% of the response. In dyslexic children, equivalent results accounted for 3.3 and 9.5%.

In the reading tests, average candidates were significantly faster at reading multiple than single words.

Dyslexic participants were slower when reading multiple 7 letter words but showed no speed difference when reading discrete or multiple 5 letter words.

The authors have illustrated that in average children, they are able to process the next visual stimulus whilst articulating the current item.

Dyslexic children showed sensitivity on word length to speed of reading, hence illustrating that their difficulty integrating eye movements, word decoding and speech synchronisation, increases with tasks presenting a greater challenge.

Previous research has shown that dyslexic children are challenged at word decoding level. Zoccolotti et al via their study have revealed that apart from shortfalls in reading single words, dyslexics also have a further deficit when reading multiple words.

During the colour and digit naming, results for the 2 groups showed a similar pattern. Normal children had overall advantage but dyslexic children showing a larger negative difference for multiple rather than single stimuli.

The authors conclude that "multiple subcomponents of RAN tasks may indeed be critical in mediating the relationship with reading" hence children with dyslexia are slower in RAN tests due to difficulty in combining processing of visual stimuli with vocalising words.

More information: "Multiple stimulus presentation yields larger deficits in children with developmental dyslexia: A study with reading and RAN-type tasks." Zoccolotti, De Luca, Lami et al. Child Neuropsychology: A Journal on Normal and Abnormal Development in Childhood and Adolescence. Volume 19, Issue 6, 2013. DOI: 10.1080/09297049.2012.718325