Tag: parents

The 69 genes that increase the risk for autism

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UCLA-led team compares DNA of children with the disorder to that of their siblings and parents

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A UCLA-led research team has identified dozens of genes, including 16 new genes, that increase the risk of autism spectrum disorder. The findings, published in the journal Cell, were based on a study of families with at least two children with autism.

Researchers from UCLA, Stanford University and three other institutions used a technique called whole genome sequencing to map the DNA of 2,300 people from nearly 500 families. They found 69 genes that increase the risk for autism spectrum disorder; 16 of those genes were not previously suspected to be associated with a risk for autism.

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Researchers also identified several hundred genes they suspect may increase the risk of autism based on their proximity to genes previously identified to carry an increased risk.  The study analyses further revealed several new biological pathways not previously identified in studies of autism.

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The findings shed light on how genetic variants or mutations — the differences that make each person’s genome unique — are passed from parents to children affected with autism, said the study’s co-lead author Elizabeth Ruzzo, a UCLA postdoctoral scholar. Former UCLA postdoctoral scholar Laura Pérez-Cano is the study’s other co-lead author.

“When we look at parents of autistic children and compare them to individuals without autism, we find that those parents carry significantly more, rare and highly damaging gene variants,” Ruzzo said. “Interestingly, these variants are frequently passed from the parents to all of the affected children but none of the unaffected children, which tells us that they are significantly increasing the risk of autism.”

Of the children in the study, 960 have autism and 217 children do not. That enabled researchers to analyze the genetic differences between children with and without autism across different families.

“Studying families with multiple children affected with autism increased our ability to detect inherited mutations in autism spectrum disorder,” said Dr. Daniel Geschwind, senior, corresponding author of the study and the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at the David Geffen School of Medicine of UCLA.

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“We show a substantial difference between the types of mutations that occur in different types of families, such as those that have more than one affected child versus those having only one child with ASD,” said Geschwind, who also was the study’s co-principal investigator and director of the UCLA Center for Autism Research and Treatment and director of the Institute of Precision Health at UCLA.

The research also found that the 16 genes newly determined to be associated with an increased risk for autism form a network with previously identified ASD risk genes. The way they interact with one another further heightens the risk, said the study’s co-senior author and co-principal investigator Dennis Wall, a Stanford University School of Medicine associate professor of pediatrics and of biomedical data science.

“They associate with each other more tightly than we’d expect by chance,” he said. “These genes are talking to each other, and those interactions appear to be an important link to autism spectrum disorder.”

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The nearly 600 genes researchers suspect as carrying an increased risk of autism were identified through “guilt by association,” or through their interactions with other genes that already have been shown to carry an increased autism risk, Ruzzo said.

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“And although not all of those genes will be found to increase the risk for autism, our analysis indicates that future studies will provide support for many of these genes,” she said.

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The families studied are part of the Autism Genetic Resource Exchange (AGRE), which was originally developed nearly two decades ago by researchers and the National Institutes of Health in collaboration with Cure Autism Now, which is now a program of Autism Speaks.

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Autism is a spectrum of neurological disorders characterized by difficulties with communication and social interaction. Geschwind has been working to identify the genetic causes and biological mechanisms of the disorder for more than a decade, and led the original development of the AGRE resource that was used in this study in the late 1990s. In 2018, he and colleagues at UCLA received their second, five-year grant from the NIH to expand autism research by studying genetic causes of autism in African American families.

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Protecting kids from risky drinking

Alcoholism: Clinical & Experimental Research

Photo by Felipe Ponce
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Many parents permit their adolescent children to drink alcohol, believing this helps teach them responsible use and avoids the appeal of ‘forbidden fruit’. In research studies, greater parental permissibility for alcohol has been linked to earlier and heavier drinking in adolescence. However, it is not clear whether parents allowing adolescents to drink is itself to blame, or if this kind of permissibility is simply a marker for other factors (relating to the family, parents or child) that increase the risk of problem alcohol use among adolescents. For example, parents’ own heavy drinking, family sociodemographics, and adolescents’ friends’ use of alcohol can all affect the likelihood of alcohol misuse among adolescents, and each of these risk factors might also be underlying causes of parents allowing drinking. In a new report published in the journal Alcoholism: Clinical & Experimental Research, researchers from Pennsylvania State University have used intergenerational data from a contemporary UK study to examine whether parents allowing adolescents to drink is itself associated with risky drinking in adolescence, beyond other such risk factors.

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The Millennium Cohort Study (MCS) has collected data from over eleven thousand parents and children from infancy through to 14 years, using regular interviews. Children were asked questions about their alcohol use when they were aged 11 and 14 years; the data showed that by age 14, half had drunk more than a few sips of alcohol, around 10% had drunk heavily, and 3% had drunk heavily at least 3 times in the past year. Seven percent had made a rapid transition to heavy drinking, defined as escalating to having at least five drinks at a time, within a year of having their first drink.  

Parents of 14-year olds were asked if they permitted their child to use alcohol, with about 16% of parents indicating that they did allow this. Using a series of statistical analyses, the researchers found that these teenagers faced an elevated risk of heavy alcohol use at age 14, even after accounting for a large host of other risk factors measured earlier when children were age 11. Specifically, children who were permitted to drink alcohol had over twice the odds of engaging in heavy or frequent heavy drinking by age 14, and almost double the risk of a rapid transition to heavy drinking, than those whose parents did not permit alcohol use.

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These findings do not support the idea that allowing children to drink alcohol inoculates them against alcohol misuse, and will help to target prevention and screening efforts to reduce underage drinking. However, the researchers note that because adolescent heavy drinking and parental permissiveness about alcohol were measured at the same point in the survey (at around age 14), the findings represent an association rather than cause and effect; further research will be needed to establish whether parental permissiveness leads to adolescent heavy drinking, or whether adolescent drinking over time leads parents to become more permissive.

Parents Allowing Drinking is Associated with Adolescents’ Heavy Alcohol Use. J. Staff, J. Maggs (pages xxx).

ACER-19-4039.R1

Borderline Mother and Autism (Part 1)

Credit Photo Velizar Ivanov

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By Fabrizio Catalfamo

“I would like to point out that this is not an article to blame mothers but a simple (non-technical) analysis, the result of personal experiences, therefore to be read in a narrative and non-scientific way, on the other hand I would not have the necessary qualifications.”

I am the father of three splendid boys, two of those born of a second marriage. One of the two youngest will turn twelve in four days, diagnosed in autism spectrum when he was 3 years old. The mother, never diagnosed (also because she refuses every test) in my opinion with deep teenage borderline wounds.

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Borderline Personality Disorder (BPD)

Is a condition characterized by difficulties regulating emotion. This means that people who experience BPD feel emotions intensely and for extended periods of time, and it is harder for them to return to a stable baseline after an emotionally triggering event.

This difficulty can lead to impulsivity, poor self-image, stormy relationships and intense emotional responses to stressors. Struggling with self-regulation can also result in dangerous behaviors such as self-harm (e.g. cutting).

It’s estimated that 1.4% of the adult U.S. population experiences BPD. Nearly 75% of people diagnosed with BPD are women. Recent research suggests that men may be equally affected by BPD, but are commonly misdiagnosed with PTSD or depression. 

Autism is related to emotional disorder

I lived for more than 10 years with the mother of my 2 children and after the first apparently “normal” times, the borderline personality manifested itself.
This led me to try to understand the reasons and the causes of all this, reading and informing myself, about this type of disorder that destroyed the relations of this woman at the same speed as everyone could fall in love with her.

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Over time, I learned to recognize this kind of personality and at the same time for obvious reasons, I met parents of other autistic children. The thing that struck me at the beginning was that, the most part of the parents were single parents and those that were not, presented with evidence the presence of the man, subordinate to the woman. Clearly in the rare cases of couples, the man appeared as a second-rate figure.
I wouldn’t want to bore you too much with this story, I promise you I’ll follow up on the next posts.
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