Discovery of new De novo mutation may lead to better treatment

It has been found in a recent study that developmental disorders affect certain skills of humans like attention, memory, language, and social interaction.

Although many new developmental disorders have been identified in recent years, there are many more which are left undiscovered.

In this study, the researchers analyzed genomic data from over 31,000 parent-child trios obtained from the UK's Deciphering Developmental Disorders Project.

Analysis of these trios yielded more than 45,000 'de novo' mutation (DNMs). They developed an improved method to test for the enrichment (over-representation) of damaging DNMs in individual genes.
 
One of the researchers, said: "We found 307 significantly enriched genes, 49 of which are novel. With all of these genes, we were able to explain about 51 per cent of the DNM burden in our dataset. We then modeled different underlying genetic scenarios to get an idea of where the remaining de novo burden lies and how we can go about finding it."

About 40 per cent of developmental disorders is caused by DNMs, equivalent to about one birth in every 295 in the UK alone. The prevalence of the disease increases with the age of the parents.

The disorders usually become visible during childhood and include severe diseases such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), intellectual disability, and Rett syndrome.

A possible expectation is that the DNMs in the genes which are as yet undiscovered are less penetrant, i.e., they present symptoms in fewer people.

"We may need to adapt our system of gene discovery in order to capture these fewer penetrant genes," said a researcher.

The researchers also hope to increase their sample size in order to try to detect ever more genes associated with developmental disorders.

However, the identification of 40 new genes already provides valuable information to clinicians and to drug developers.

One of the lead researchers of the study, said: "Developmental delay is often caused by new mutations arising during the formation of sperm or eggs."

"By combining data on new mutations identified in the DNA of more than 30,000 patients, the scientists could implicate a role for 49 new genes in developmental delay."

"This study shows the power of large-scale international collaboration to advance our understanding of this disorder and improve diagnostics as well as patient management," added the Prof. 

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What women eat during pregnancy can modulate risk of ADHD in children

According to a new study, the risk of children  developing attention deficit hyperactivity disorder (ADHD) symptoms can be modulated by  mother’s diet during  while they are pregnant. The study,  had examined samples of umbilical cord plasma to calculate the levels of omega-6 and omega-3 which tend to reach the foetus. According to statistics, a higher omega-6: omega-3 ratio can be linked  to a higher risk of the ADHD symptoms at the age of 7.

Omega-6 and omega-3 can be termed as the  long-chain polyunsaturated fatty acids which have  a crucial role in the function and architecture of the central nervous system, mainly in the later stages of gestation.

These two fatty acids compete for incorporation into cell membranes and are primarily obtained through diet. Since omega-6 and omega-3 have opposing physiological functions, the former promotes systemic pro-inflammatory states, while the latter promotes anti-inflammatory states, a balanced intake of these two fatty acids is important. Previous research had shown that children with ADHD symptoms have a higher omega-6: omega-3 ratio.

The authors studied data from 600 children living in four Spanish regions (Asturias, Basque Country, Catalonia, and Valencia) who are participating in the INMA Project. They analysed umbilical cord plasma samples and data from questionnaires completed by the children`s mothers. The ADHD symptoms were assessed using two standard questionnaires: the first completed by the children`s teachers at the age of four years, and the second by their parents at the age of seven years.

The results showed that, at the age of seven years, the number of ADHD symptoms increased by 13 per cent per each unit increase in the omega-6: omega-3 ratio in umbilical cord plasma. The study analysed the number of symptoms in the children who met the diagnostic criteria for the ADHD (minimum six symptoms) and also in the children with a smaller number of ADHD symptoms. The ratio of the two fatty acids was associated with the number of the ADHD symptoms present but not with the diagnosis of the disorder, and only in the assessment carried out at seven years of age.

The authors suggest that the assessment carried out at four years of age may have been affected by a measurement error because the ADHD symptoms reported at early ages may be caused by a neurodevelopmental delay falling within the normal range.”Our findings are in line with previous studies that established a relationship between the omega-6: omega-3 ratio in mothers and various early neurodevelopmental outcomes,” commented a researcher and lead author of the study.

“Although the association was not clinically significant, our findings are important at the level of the population as a whole,” noted the author.”If a large proportion of the population is exposed to a high omega-6: omega-3 ratio, the distribution for the ADHD symptom scores would likely move to the right and the prevalence of extreme values would increase, leading to a negative impact on the community`s health costs and productivity,” he added.

“This study adds more evidence to the growing body of research on the importance of maternal diet during pregnancy,” commented the co-author of the study.”The nutrient supply during the earliest stages of life is essential in that it programs the structure and function of the organs, and this programming, in turn, has an impact on health at every stage of life. As the brain takes a long time to develop, it is particularly vulnerable to misprogramming. Alterations of this sort could, therefore, lead to neurodevelopmental disorders.”

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Acetaminophen Puts Fetuses at Risk of Autism

Expecting women experience, to say the least, a difficult time during pregnancy, with pain in their legs, back, and stomach being part of the symptoms that are common during this period. To treat these symptoms, doctors have recommended a simple, common painkiller that we all know. It’s the world's best-selling drug called Acetaminophen, which is used to treat pain and reduce fever, but in a recent study, it was found that taking it leads to a significant risk for fetuses. 

 

The researchers found that there is a link between regular acetaminophen intake during pregnancy and the development of neurodevelopmental disorders, including autism and ADHD, and it is important that you familiarize yourself with the findings of the study so that you know how to protect yourself from this danger and at the same time reduce the different fears that have arisen regarding its findings.

Before we begin discussing the study...

it's important to know a little more about acetaminophen. This type of drug is an external analgesic used to relieve pain and reduce fever. There are more than 600 medicines that contain acetaminophen as an active ingredient including both “over the counter drugs” (OTC) and prescription medications. 

Common OTC drugs containing acetaminophen:

• Actifed®

• Plus®Alka-Seltzer
• ®Cepacol
• Contac®
• ®Coricidin
• ®Dayquil
• ®Dimetapp
• Dristan®
• Excedrin®
• ®Feverall
• Formula 44®
• Goody’s® Powders
• ®Liquiprin
• Midol®
• ®Mucinex
• Nyquil®
• ®Panadol
• Robitussin®
• Saint Joseph® Aspirin-Free
• Singlet®
• ®Sinutab
• ®Sudafed
• Theraflu®
• ®Triaminic
• TYLENOL® Brand Products
• Vanquish®
• Vicks®
• *And generic brands                            

  Common prescription medications containing acetaminophen:

• ®Butalbital
• ®Endocet
• ®Fioricet
• ®Hycotab
• ®Hydrocet
• Bitartrate®Hydrocodone
• ®Lortab
• ®MIDRIN
• NORCO®
• ®Oxycodone
• Percocet®
• ®Phenaphen
• ™ROXICET
• ®Sedapap
• ®Tapanol
• Tramadol
• TYLENOL® with Codeine
• ®Tylox
• ®Ultracet
• ®Vicodin
• ®Zydone
• *And generic brands

Most of these drugs can be purchased without a prescription, but they are known to have harmful side effects, such as liver damage, and therefore should not be used to treat headaches that result from hangovers, as alcohol itself is harmful to the liver. It has recently been found that pregnant women should also be wary of consuming large amounts of such drugs because regular consumption of acetaminophen can cause autism and similar problems in the developing fetus in their stomach.

The study conducted on taking acetaminophen during pregnancy and its conclusions

Dr., the head of the laboratory, along with his students, reviewed studies examining the possible relationship between prolonged exposure of acetaminophen to the fetus and the risk of developing neurodevelopmental disorders, including autism and ADHD. That conclusion of the review was that prolonged drug use during pregnancy increases the risk of developing ADHD by about 30% and autism by about 20%.
Along with these alarming results, it is important to note that prolonged use is considered using acetaminophen for several weeks on a daily basis, so there is no reason to be alarmed if there is a need to use the medication to relieve pain once in a while. In fact, occasional use of acetaminophen is much less dangerous to the fetus than the stress felt by the pregnant mother caused by the pain that afflicts her. However, it is recommended that pregnant women who suffer from pain regularly consider alternative and natural ways to reduce pain and consult with their doctor to find out what is the right and healthiest way to achieve this goal.

What else is known about the dangers of acetaminophen?

Apart from the known side effects of acetaminophen, such as nausea, allergic reaction, rash, redness, sweating and high blood pressure, in some cases the drug may cause the diaphragm to contract, leading to some type of asthma and, in rare cases, - a condition called thrombocytopenia or leukopenia, depending on the complication. In addition, a study conducted in 2011 found that prolonged use of acetaminophen (4 times or more per week for 4 years or more) doubles the risk of leukemia.

However, despite all the dangers mentioned above, it should be remembered that this is a drug that is considered to be safe in all that is associated with pain relief, but it is important to consume it at the correct dose that does not exceed 3 tablets per day for a maximum of 3 days, unless you have received other instructions from your doctor. It is also important to note that the drug is considered safe for children and infants, as opposed to other painkillers that may cause serious and dangerous effects, such as aspirin, which is recommended for use only at the age of 18 and up.

In conclusion

If you are a pregnant woman suffering from pain on a regular basis, it is recommended that you consult with your doctor to find the most effective solution to the problem, while considering the possibility of natural treatments and relief of pain with appropriate food. As long as you use acetaminophen only once for a while and not regularly, it poses no risk to your fetus. On the other hand, if you are considering regular use of these medications, remember that you are putting yourself and your baby in harm's way.

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There's a Link Between Autism And Epilepsy, And Scientists Might Have Figured It Out

Researchers have discovered why a mutated gene causes seizures in some children who have autism.
Autism spectrum disorder is a highly prevalent neurodevelopmental disorder - affecting one in 68 children - characterized by a range of symptoms, including difficulty with communication and social interactions.

One third of children who have autism spectrum disorder also have epilepsy. It's related to a gene that is mutated in patients with autism. But scientists didn't know why the mutation causes seizures.
The new discovery shows the mutation acts like a bad gardener in the brain.

It shrinks the neurons' tiny branches and leaves - its dendrite arbors and synapses - that let brain cells relay vital messages and control the brain's activity.

That shrinkage can cause a breakdown in message delivery.

In people with the mutation, inhibitory neurons- that are supposed to keep things tranquil in the brain and slam the brake on excitatory neurons - don't grow enough branches and leaves to communicate their calming message, according to the research. That can lead to seizures.

The mutation, CNTNAP2 or "catnap2," works as a team with another mutated gene, CASK, implicated in intellectual disability. As a result, scientists now have a new target for drugs to treat the disorder.

"Now we can start testing drugs to treat the seizures as well as other problems in autism," says lead author, professor of psychiatry and behavioral sciences.

"Patients with the mutation also have language delay and intellectual disability. So a drug targeting the mutation could have multiple benefits."

Next, researchers will do high-throughput screening of molecules with the goal of reversing these abnormalities in patients with autism.

Catnap2 is an adhesive molecule that helps cells stick together, in this case helping the synapses adhere to the dendrites. It's a difficult molecule to target with drugs, the author says.

But catnap2's partner, CASK, is a social butterfly enzyme that interacts with many other molecules.
Drugs can more easily inhibit or activate the enzyme, so researchers will screen drugs to activate it, because that appears to maintain healthy dendrite branches.

When scientists blocked CASK in the study, dendrites didn't grow.

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Congenital heart disease patients at higher risk of dementia

Adults who were born with heart disease are at a higher risk dementia, according to a study.
The study of more than 10,000 adults with congenital heart disease (CHD) in Denmark discovered a particularly increased risk for early dementia in middle-age adults.
 
"We've learned that CHD is a lifelong condition," says  senior author of the study. "Research shows that children born with heart problems are at a greater risk for one or more neurodevelopmental issues when compared to children without heart disease. We can now say that the risk for these types of problems continues well into adulthood."

The research team studied 10,632 adults born between 1890 and 1982. The researchers used medical registries and a medical records review covering all Danish hospitals to identify adults with CHD diagnosed between 1963 and 2012.

The researchers found a 60 percent increased risk of dementia compared to the general population. The risk was 160 percent higher (2.6 times higher) when comparing those less than 65 years old.

The author says it is important to recognize that many of these adults were born during a time when medical and surgical interventions were more limited than they are today. Still, he says "we need to understand the healthcare needs and risk factors affecting the larger number of middle-age and older adults currently living with CHD."

CHD occurs in six to 10 of every 1,000 live births. Because these individuals are now living longer, the population of those with CHD is experiencing different neurodevelopmental issues than those previously described only in infants, children and young adults.

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