Tag: autism spectrum disorder

Amygdala Enlargement in Kids with ASD Starts Early

Source: Pixabay

The amygdala, which is enlarged in two-year-old children with autism spectrum disorder (ASD), begins its accelerated growth between 6 and 12 months of age, suggests a study appearing in the American Journal of Psychiatry. The findings indicate that therapies to reduce the symptoms of ASD might have the greatest chance of success if they begin in the first year of life, before the amygdala begins its accelerated growth.

The amygdala, which is involved in processing emotions, such as interpreting facial expression in typically developing children increases substantially in volume from 7.5 to 18.5 years of age. The amygdala in children with autism is initially larger, but does not undergo the age-related increase observed in typically developing children.

The study included 408 infants, 270 of whom with an increased ASD risk from having an older sibling with ASD, 109 typically developing infants, and 29 infants with Fragile X syndrome. The researchers conducted MRI scans of the children at 6, 12 and 24 months of age. They found that the 58 infants who went on to develop ASD had a normal-sized amygdala at 6 months, but an enlarged amygdala at 12 months and 24 months. Moreover, the faster the rate of amygdala overgrowth, the greater the severity of ASD symptoms at 24 months. The infants with Fragile X syndrome had no differences in amygdala growth but enlargement of the caudate, which was linked to increased repetitive behaviours.

The researchers suggested that difficulty in processing sensory information during infancy may stress the amygdala, leading to its overgrowth.

Source: NIH

Many Youths with Substance Use Disorder Also Have Autism Traits

Source: Andrew Neel on Unsplash

One in five teens and young adults seeking treatment for substance use may have traits characteristic of a previously unrecognised autism spectrum disorder (ASD), according to a study by researchers at Massachusetts General Hospital (MGH).

The study, published in The American Journal on Addictions, found that among patients with an average age of 18.7 years being treated in an outpatient substance use disorder (SUD) clinic, 20% had elevated scores on the Social Responsiveness Scale-2 (SRS-2), a parent- or teacher-reported measure that has been shown to reliably identify the presence and severity of social impairment among individuals along the autism spectrum, and to distinguish autism from other disorders.

Lead author James McKowen, PhD, said this is the first study examining the prevalence of autistic traits among young people with SUD.

“Usually studies of substance use disorder in autism are done in those with an autism diagnosis already,” he said. “We have looked at this question from the other side, asking how many people with substance use disorder have autism.”

The researchers asked parents of 69 youths reporting for the first time to a specialty outpatient psychiatric SUD clinic to fill out the SRS-2 form. The form is designed to measure an individual’s social awareness, cognition, communication and motivation, and restricted interests and repetitive behaviours.

Though few differences were found between those with elevated autistic trait scores and those with lower, non-autistic scores in terms of demographic or psychiatric factors, adolescents with higher SRS-2 scores had a nearly eightfold higher likelihood of stimulant use disorder, and a fivefold higher risk for opioid use disorder.

According to the researchers, the findings highlight the importance of assessing patients in a SUD treatment setting for autistic traits.

“For clinicians, the big takeaway point from this study is that we need to get better at screening and certainly training in the presence of autism spectrum disorder,” said Dr McKown. Clinicians treat the SUD “but don’t have specialty developmental training, particularly for issues around autism.”

The researchers are developing a free clinical therapy protocol that can help clinicians better address the issues of autistic traits in patients with SUD.

Source: Massachusetts General Hospital

Scientists Find Epilepsy Biomarker in Autistic Children

Photo by Ben Wicks on Unsplash

Scientists have discovered that an important brain protein that quiets overactive brain cells and is abnormally low in children with autism, which may explain why so many children with autism also have epilepsy. The findings were published in Neuron.

This protein can be detected in the cerebrospinal fluid, making it a promising marker to diagnose autism and potentially treat the epilepsy that accompanies the disorder.

Mutated versions of this gene were known to cause autism combined with epilepsy, and epilepsy appears in 30% to 50% of children with autism. Autism, which is 90% genetic, affects 1/58 children in the US.

Appropriately nicknamed ‘catnap2’, the protein, CNTNAP2, is produced by the brain cells when they become overactive. Because the brains of children with autism and epilepsy lack sufficient CNTNAP2, scientists found, their brains become overactive, leading to seizures.

For the study, the researchers analysed the cerebrospinal fluid in individuals with autism and epilepsy, and in mouse models. Though, cerebrospinal fluid has been used in researching disorders such as Parkinson’s, this is the first study showing it is an important biomarker in autism.

The new finding about CNTNAP2’s role in calming the brain in autism and epilepsy may lead to new treatments.

“We can replace CNTNAP2,” said lead study author Peter Penzes, the director of the Center for Autism and Neurodevelopment at Northwestern University Feinberg School of Medicine. “We can make it in a test tube and should be able to inject it into children’s spinal fluid, which will go back into their brain.”

Penzes’ lab is currently working on this technique in preclinical research.

The level in the spinal cord is proxy for the level in the brain, explained Penzes. When brain cells are too active because of overstimulation, they produce more CNTNAP2, which floats away and binds to other brain cells to calm them. The protein also leaks into the cerebrospinal fluid, where scientists were able to measure it, giving them a clue for how much is produced in the brain.

Source: EurekAlert!

Cholesterol Screening Recommended for Children with Autism

Phot by Ben Wicks on Unsplash

Physicians have recommended that children with autism spectrum disorder (ASD) receive screening for abnormally high or low cholesterol levels at least once during their childhood, since ASD is a risk factor for cardiovascular disease in both children and adults.

The recommendation stemmed from a recent study, published in Translational Psychiatry, that found reduced levels of high density lipoprotein cholesterol (HDL-C) in individuals from families with two or more children with ASD. Additionally, they found reduced or elevated levels of other lipids, apolipoprotein A1 (ApoA1) and apolipoprotein B (ApoB). Individuals with low HDL-C levels or ApoA1 levels had lower adaptive functioning than other individuals with ASD.

“This latest research is part of our ongoing work to understand some of the co-occurring conditions with ASD,” said Elaine Tierney, MD, a child and adolescent psychiatrist with Kennedy Krieger Institute. “Our work indicates that lipids are abnormal in many individuals with ASD. Our findings, in addition to studies that show an increase in heart disease in individuals with ASD, lead us to recommend that children with ASD be screened for abnormal total and HDL cholesterol levels. We hope our work underscores the importance of cholesterol screening and raises awareness for families in the ASD community.”

Previously, Dr Tierney and colleagues identified that Smith-Lemli-Opitz Syndrome (SLOS), a genetic condition of impaired cholesterol biosynthesis, is associated with autism. This led to a recommendation that all children with ASD be screened for SLOS if they exhibit some of its characteristics, such as slow growth, microcephaly, mental retardation and other birth defects, although the severity of this rare disease can vary.

Source: Kennedy Krieger Institute

Significant White Matter Changes in Autism Revealed by MRI

Significant alterations in the brain’s white matter in adolescents with autism spectrum disorder (ASD). Credit: RSNA and researcher, Clara Weber

Using specialised MRI, researchers found significant changes in the microstructure of the brain’s white matter, especially in the corpus callosum in adolescents and young adults with autism spectrum disorder (ASD) compared to controls. This research will be presented next week at the annual meeting of the Radiological Society of North America (RSNA).

“One in 68 children in the U.S. is affected by ASD, but high variety in symptom manifestation and severity make it hard to recognise the condition early and monitor treatment response,” explained Clara Weber, postgraduate research fellow at Yale University School of Medicine. “We aim to find neuroimaging biomarkers that can potentially facilitate diagnosis and therapy planning.”

Researchers reviewed diffusion tensor imaging (DTI) brain scans from a large dataset of patients between the age of six months and 50 years. DTI is an MRI technique that measures connectivity in the brain by detecting how water moves along its white matter tracts. Water molecules diffuse differently through the brain, depending on the integrity, architecture and presence of barriers in tissue.

“If you think of gray matter as the computer, white matter is like the cables,” Weber said. “DTI helps us assess how connected and intact those cables are.”

For the study, clinical and DTI data from 583 patients from four existing studies of distinct patient populations were analysed: infants (median age 7 months), toddlers (median age 32 months), adolescents, and young adults.

“One of the strengths of our study is that we looked at a wide range of age groups, not just school-aged children,” Weber said.

To assess the influences of age and ASD diagnosis on white matter microstructure, the research team created fractional anisotropy, mean diffusivity and radial diffusivity maps using data from the four studies.

Fractional anisotropy is the extent water diffusion is restricted to just one direction. A value of zero means that diffusion is unrestricted in all directions, while one means that diffusion is unidirectional. Mean diffusivity is the overall mobility of water molecules, indicating how densely cells are packed together. Radial diffusivity is the extent water diffuses perpendicular to a white matter tract.

“When white matter integrity is disrupted, we see more water diffusing perpendicularly, which translates to a higher radial diffusivity,” Weber said.

The key finding of the analysis was reduced fractional anisotropy within the anterior/middle tracts of the corpus callosum in adolescent and young adult ASD patients compared to individuals in the control group. The corpus callosum is a thick bundle of nerve fibers that connects and allows the two sides of the brain to communicate. Corresponding increases in ASD-related mean diffusivity and radial diffusivity were found in young adults.

“In adolescents, we saw a significant influence of autism,” Weber said. “In adults, the effect was even more pronounced. Our results support the idea of impaired brain connectivity in autism, especially in tracts that connect both hemispheres.”

Compared to controls, no reduction in fractional anisotropy was seen in the same tracts in toddlers and infants with ASD.

The researchers hope the findings can help improve early diagnosis of ASD and provide potential objective biomarkers to monitor treatment response.

“We need to find more objective biomarkers for the disorder that can be applied in clinical practice,” Weber said.

Source: EurekAlert!

Low Vitamin D in Pregnancy Can Raise Autism Risk

Source: Anna Hecker on Unsplash

Low maternal vitamin D intake during pregnancy can affect the development of autism in the child along with various other factors, according to a new study from the University of Turku, Finland, and Columbia University, USA.

The study, published in the Biological Psychiatry journal, included 1558 cases of autism spectrum disorder (ASD) and an equal number of matched controls born in Finland between January 1987 and December 2004, followed up until December 2015. 

Maternal vitamin D deficiency during pregnancy was linked to a 44% increased risk of ASD in the offspring, compared to women with sufficient vitamin D. 

The result persisted even when accounting for maternal age, immigration, smoking, psychopathology, substance abuse, the gestational week of blood draw, season of blood collection, and gestational age.

“The results are significant for public health as vitamin D deficiency is readily preventable,” said first author, Professor Andre Sourander from the University of Turku.

In previous work, the researchers had shown that vitamin D deficiency is also associated with increasede ADHD risk in the offspring. The serum samples were collected before the national recommendation for vitamin D supplementation during pregnancy was introduced in Finland. The current recommendation for pregnant women is a daily supplement of 10 micrograms of vitamin D throughout the year.

“Vitamin D deficiency is a major global problem,” Prof Sourander remarked.

Source: University of Turku

Dopamine Involved in Both Autistic Behaviour and Motivation

Dopamine can help explain both autistic behaviours and men’s need for motivation or ‘passion’ in order to succeed compared to women’s ‘grit’, according to a new study.

Men – more often than women – need passion to succeed at things. At the same time, boys are diagnosed as being on the autism spectrum four times as often as girls. Both statistics may be related to dopamine, one of our body’s neurotransmitters.

“This is interesting. Research shows a more active dopamine system in most men” than in women, says Hermundur Sigmundsson, a professor at the Norwegian University of Science and Technology’s (NTNU) Department of Psychology.

He is behind a new study addressing gender differences in key motivating factors to excel in something. The study uses men’s and women’s differing activity in the dopamine system as an explanatory model. The study enrolled 917 participants aged 14 to 77, consisting of 502 women and 415 men.

“We looked at gender differences around passion, self-discipline and positive attitude,” said Prof Sigmundsson. The study refers to these qualities as passion, grit and mindset. The researchers also applied theories to possible links with dopamine levels. Dopamine, a neurotransmitter that is released in the brain, is linked to learning, attention and our ability to focus. It can contribute to a feeling of satisfaction.

Men generally secrete more dopamine, but it plays a far more complex role than simply being a ‘happy hormone’. Dopamine is linked to learning, attention and our ability to focus.Previous studies on Icelandic students have shown that men are more dependent on passion in order to succeed at something. This study confirms the earlier findings. In six out of eight test questions, men score higher on passion than women.

However, the association with dopamine levels has not been established previously.

“The fact that we’ve developed a test to measure passion for goal achievement means that we can now relate dopamine levels to passion and goal achievement,” explained Prof Sigmundsson.

Women, on the other hand, may have greater self-discipline – or grit – and be more conscientious, according to other studies. Their level of passion may not be as pronounced in general, but they are also able to use this to excel.

The results for the women, however, are somewhat more ambiguous than men’s need to have a passion for something, and this study found no such gender difference. Nor did the researchers find any difference between the sexes in terms of growth mindset.

Previous studies have associated the dopamine system with many different conditions, such as ADHD, psychoses, manias and Parkinson’s disease. However, it may also be related to a certain form of autistic behaviour.

Some individuals with autism may develop a deep interest in certain topics, something which others may find strange or even off putting. People on the autism spectrum can focus intensely on these topics or pursuits, at least for a while, and dopamine may play a role in this.

“Other research in neuroscience has shown hyperactivity in the dopamine system in individuals with autism, and boys make up four out of five children on the autism spectrum. This, and dopamine’s relationship to passion, might be a mechanism that helps to explain this behaviour,” concluded Prof Sigmundsson.

Source: Norwegian University of Science and Technology


Journal reference: 
Sigmundsson, H., et al. (2021) Passion, grit and mindset: Exploring gender differences. New Ideas in Psychology. doi.org/10.1016/j.newideapsych.2021.100878.

Epidurals Do Not Increase Autism Risk for Babies

A Canadian study showed that children born to mothers who used epidural analgesia during labour were not at increased risk of developing autism spectrum disorder (ASD).

Epidural analgesia is administered into the epidural space around the spinal cord, typically during labour. Besides easing pain and reducing the use of other analgesics, it has also been shown to lower cortisol levels, expedite the return of bowel function, decrease the incidence of PE and DVT in the postoperative period, and reduce hospital stays.

Epidural analgesia is used by 73% of pregnant women in the U.S. for pain during labour. Since the US incidence of ASD increased from 0.66% in 2002 to 1.85% in 2016, there have been more efforts to identify environmental factors that put children at risk, the researchers said.

Elizabeth Wall-Wieler, PhD, of the University of Manitoba in Winnipeg, and colleagues drew from population datasets and included vaginal deliveries of singleton babies born in Canada from 2005 to 2016, following children from birth up until 2019.

Of the more than 123 000 infants included in the study, approximately 38% were exposed to epidural analgesia during delivery, and about 80 000 had a sibling in the study cohort. The mean age of mothers was 28 years. The children’s median age at their first diagnosis of ASD was 4 years. Births with epidural analgesia were more likely to be nulliparous or involve other factors such as foetal distress.
About 2.1% of children exposed to epidural labour analgesia (ELA) later developed ASD, compared with 1.7% who were not exposed, the team reported. But after factor adjustments, the researchers found no association between epidural analgesia and childhood ASD risk, they wrote in JAMA Pediatrics.

“This finding is of clinical importance in the context of pregnant women and their obstetric and anesthesia care professionals who are considering ELA during labor,” Dr Wall-Wieler and colleagues noted.

The group’s results contrast with Qiu et al.’s recent study that found a 37% increased risk of autism in children whose mothers used epidural analgesia during their delivery. Their study did not account for key perinatal factors, such as induction of labor, labor dystocia, and foetal distress, and drew criticism from five medical societies for possible residual confounding.

Dr Wall-Wieler and colleagues said that ELA is “recognized as the most effective method of providing labor analgesia,” adding that future qualitative research should assess how their findings — as well as the prior ones — have altered the perceptions about the perceived risk of ASD in offspring among both pregnant women and healthcare providers.

In an accompanying editorial, Gillian Hanley, PhD, of the University of British Columbia in Vancouver, and colleagues said that given the concerns stemming from previous findings, “it thus comes with some relief that Wall-Wieler et al found no association when controlling for key maternal sociodemographic and perinatal factors.”

“Epidural labor analgesia is an extremely effective approach to obstetric analgesia,” Dr Hanley’s group noted. “We have a collective responsibility to understand whether it is a safe option that sets a healthy developmental pathway well into childhood.”

The researchers observed an association between ELA and autism risk before accounting for confounders; but after controlling for all maternal sociodemographic, pre-pregnancy, pregnancy and perinatal factors, there was no longer a correlation.

In an analysis of siblings, researchers again observed a null association after controlling for all confounders and family fixed effects. Siblings who were exposed to epidural analgesia had a 2% cumulative risk of developing autism, and unexposed siblings had a risk of 1.6%.

The accuracy of inpatient and outpatient diagnostic codes for ASD, as well as coding for ELA was acknowledged as a study limitation by the researchers, as well as a lack of data describing epidural analgesia drug doses.

Source: MedPage Today

Journal information: Wall-Wieler E, et al “Association of epidural labor analgesia with offspring risk of autism spectrum disorders” JAMA Pediatr 2021; DOI: 10.1001/jamapediatrics.2021.0376.