Wednesday, May 22, 2024

How Is Autism Inherited

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Be Grateful For The Strong Connection You And Your Child Will Forge

Advances in the Genetics of Autism

In reflecting over the last 24 years of our journey, I will say this: My son gives me 100 kisses and hugs every day, he is always happy to see me and he will always be with me. He doesnt lie and he doesnt judge. He is welcoming to anyone that wants to enter his world. On the other hand, my father sees me about twice a year since we live 1,000 miles apart. So which dad is better off? Its not better or worse, its just different. Once you understand that, your road will be smoother.

Scott Sanes, Great Barrington, Massachusetts

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There Is A Relationship Between Autism And Brain Activity

Recent brain imaging studies show that autistic people and typically developing people do not use their brains in the same way. Autistic people do not use their brains to daydream in the same way as most people, nor do they process information about faces in the same way. So far, while we know that this information is true, we dont know what causes these differences or whether these differences somehow cause autistic symptoms.

The Molecular Diversity Of Asd

Several recent reviews summarize the growing list of dozens of common and rare genetic variants that have been associated with ASD at varying levels of statistical evidence , so I refer the reader to these reviews for comprehensive gene lists. Here, instead, I will try to synthesize what these findings may be telling us about ASD pathophysiology at what is still an early juncture in the search for ASD susceptibility genes.

The most obvious general conclusion from all of the published genetic studies is the extraordinary etiological heterogeneity of ASD. No specific gene accounts for the majority of ASD, rather, even the most common genetic forms account for not more than 12% of cases . Further, these genes, including those mentioned earlier, represent a diversity of specific molecular mechanisms, ranging from cell adhesion, synaptic vesicle release and neurotransmission, synaptic structure, RNA processing/splicing, and activity-dependent protein translation. On one hand, this should not be surprising, as autism is defined based on observation of cognition and behavior, not etiology. On the other hand, the diversity of potential mechanisms and the apparent lack of specificity of mutations for ASD begs the question as to whether ASD should even be viewed as a unitary disorder. Therefore, asking whether the diverse genes implicated in autism might converge on common pathways becomes an important question for understanding autism and developing new therapeutics.

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Sibling Image Acquisition And Processing

Image acquisition and analysis procedures have been described previously and are detailed in the . Siblings underwent MRI scans at 6, 12, and 24 months of age in 3-T Siemens Tim Trio scanners with 12-channel head coils. The scanning protocol included a high-resolution T1- and T2-weighted scan and a diffusion-weighted imaging sequence with 25 gradient directions. Blood-oxygen-level-dependent functional sequences were collected on a subset of the sample, as this modality was added later in the course of the study. All scans were collected during natural sleep, with the exception of three children with ASD who were scanned under sedation at the request of their parents at 24 months no functional connectivity data analyzed in the present study were collected under sedation. MRI sample sizes by age are listed in Table S2 in the .

Brain volumes were obtained using a pediatric-specific atlas-based multimodal pipeline for probabilistic tissue classification, including coregistration of multimodal MRI, bias correction, brain masking, noise reduction, and multivariate classification . Total cerebral volume is defined as the summation of gray and white matter volumes of the cerebrum, including a portion of the midbrain/brainstem.

Additional information for each image processing pipeline is provided in the . All imaging data underwent visual quality control, and only data that passed inspection were used in analyses.

If My Older Child Is Diagnosed With Asd What Are The Chances Any Other Children Would Have Autism

Autism spectrum disorder (Part 2)

Parents may take genetic tests to determine if their defective gene was passed on and led to their child developing autism. Research conducted at Duke University Medical Center found that this happens through a process called genetic imprinting.

Genetic imprinting goes against the typical laws of Mendelian genetics where genes are either recessive or dominant. In genetic imprinting, genes become turned off shortly after fertilization, or during the development of egg or sperm cells.

Imprinting affects a genes development, and through testing, genetic specialists can trace the pattern of inheritance of a disorder between parent and child.

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Asd Risk Genes Overlap With Other Diseases

Large-scale sequencing studies of major psychiatric diseases have revealed extensive overlap in risk loci, challenging the classification of these conditions as distinctive disorders. In 2013, the Cross-Disorder Group of the Psychiatric Genomics Consortium conducted a massive study with 33,332 cases and 27,888 controls in order to identify pathogenic variants shared between ASD, schizophrenia, bipolar disorder, ADHD, and major depressive disorder . In addition to establishing varying degrees of pair-wise crossover, they found loci that reached genome-wide significance for all five disorders near the following genes: inter-alpha-trypsin inhibitor heavy chain 3 , arsenite methyltransferase , calcium voltage-gated channel subunit alpha1 C , and CACNB2. Glessner et al. have also conducted a large-scale meta-analysis of structural variants across the same diseases and correlated structural variants in the loci of dedicator of cytokinesis 8 and KN motif and ankyrin repeat domains 1 with all five conditions. Schork et al. recently hypothesized that abnormal gene regulation in radial glia and interneurons during mid-gestation is a mechanism of shared risk, after using GWAS to identify susceptibility loci in genes including phosphodiesterase 1A , protein phosphatase 1 regulatory inhibitor subunit 1C , RHOA, immunoglobulin superfamily member 11 , and sortilin related VPS10 domain containing receptor 3 .

Association Of Proband Asd Traits With Sibling Functional Connectivity At 6 Months

Of a total of 196 possible network pairs per experiment, enrichment analyses identified four 6-month network pairs that were associated with proband trait level on the SCQ, the ADI-R RSI, and/or the VABS socialization scale at a level approaching experiment-wide significance . Consistent with our structural and diffusion findings, the visual and medial visual networks were well represented among enriched network pairs . The posterior default mode network was similarly well represented .

FIGURE 4. Association of proband autism traits with functional connectivity in networks including visual cortical regions among siblings at 6 months of agea

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Why Is It Important To Know If You Have A Family Health History Of Autism Spectrum Disorder

Having a family health history of ASD makes you more likely to have a child with ASD, or to have ASD yourself. If you have a child with ASD, you are more likely to have another child with ASD, especially if you have a daughter with ASD or more than one child with ASD. Your other family members would also be more likely to have a child with ASD.

If you are pregnant or planning a pregnancy, tell your doctor if you or your partner have a family health history of ASD. This information can help your doctor determine how likely you are to have a child with ASD.

When collecting family health history information,

No One Factor Causes Autism

Genetics and Autism

It is unlikely that any single factorvaccines, foods, or environmental toxinsis the cause of the steep rise in autism diagnoses. To find clues about the cause, says Dr. Croen, we have to do really large studies to look at different configurations of co-morbidities see whats unique about each separate group. New research will be addressing the questions How do these circles overlap? What is the common thread?

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Do Symptoms Of Autism Change Over Time

For many children, symptoms improve with age and behavioral treatment. During adolescence, some children with ASD may become depressed or experience behavioral problems, and their treatment may need some modification as they transition to adulthood. People with ASD usually continue to need services and supports as they get older, but depending on severity of the disorder, people with ASD may be able to work successfully and live independently or within a supportive environment.

Proband Asd Traits And Asd Sibling Occipital Cortical Surface Area

Pearson correlations revealed that proband SCQ score explained significant variation in surface area measurements for ASD siblings in the occipital and frontal cortices, but not bilateral control regions in the premotor and parietal cortices .

FIGURE 2. Association of greater levels of proband autism traits with larger surface area in the occipital and frontal cortices in infant siblings who later develop autism spectrum disordera

Proband SCQ score was correlated with ASD sibling surface area in the right middle occipital gyrus at 6 months , 12 months , and 24 months , explaining 14.4%â19.4% of the variance in regional surface area across this developmental window in ASD siblings. No significant associations were found between proband SCQ score and sibling regional cortical surface area in non-ASD siblings . This aligns with longitudinal mixed-model results reporting a significant proband SCQ score-by-sibling group interaction . Plots visualizing longitudinal trajectories of right middle occipital cortical SA as a function of proband SCQ score are shown in Figure S2 in the . Bivariate scatterplots showing associations between proband SCQ score and sibling regional surface area are shown in Figure S3 in the .

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How Can I Find Out If My Childs Case Is Genetic Can We Tell Which Side Of The Family The Autism Came From

Experts maintain that the cause of autism is largely genetic they attribute about 80% of the risk to inherited genes, leaving only 20% to environmental factors. This is a monumental finding for the causation and treatment for autism spectrum disorder , but much is left to be discovered.

Because no single gene causes autism , there are no genetic tests available to diagnose autism. Many different changes and mutations in a persons genes can lead to them developing autism. However, a genetic test can explain why your child developed ASD, as well as other information that could benefit your family.

If your child has been diagnosed with ASD, our therapists and behavior specialists at Therapeutic Pathways will help them develop and strengthen their social, emotional, and intellectual skills to improve their quality of life.

We are involved in the scientific community and follow the latest research involving genetics and the role they play in autism. Our approach at Therapeutic Pathways is to use evidence-based autism treatment that will help your child live a satisfying and well-rounded life.

Please call 422-3280 or contact us for more information.

Autism Genetics: A Decade Of Progress

Genetic Changes that Cause Autism Are More Diverse Than Previously Thought

In many ways, autism is a mysterious disorder, as it involves core abnormalities in social cognition and language, both of which are central to what makes us human. Because of this, understanding autism will have a significant impact on our basic knowledge of these fundamental cognitive processes, in addition to the obvious critical role that such mechanistic understanding has on therapeutic development. Until the last decade, virtually nothing was known about the neurobiological basis of ASD. There was no consistent neuropathology and only scant knowledge of a few causal genetic factors. The last decade has brought an explosion of genetic findings in ASD, surpassing most other common neuropsychiatric disorders, so that we now have knowledge of the etiology of ASD for between 1020% of cases. Here, I review these exciting findings with respect to what they tell us about the genetic architecture of ASD and how this informs our mechanistic understanding of the disorder and its relation to human brain function.

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Is Genetic Testing For Autism Reliable

The short version is not always. Genetic testing cannot diagnose or detect autism as over 100 genes can be linked to autism, but no single instance is repeatable among those who have it. What it can do is help identify markers or concerns, and it can help autism research. These markers, when identified between siblings or parent and child, can help future researchers know what to look for and can help concerned caregivers have an explanation of the condition, but not a direct cause.

Genetic testing is evolving and changing rapidly, and in the future we may discover a solid connection between genetics and DNA. For now, we only know they are connected somehow.

What Is The Treatment For Autism

There is currently no cure for autism. However, autism can be managed and shaped at a young age, even as early as pre-school. Early intensive therapy can have a positive effect on development later in life.

Treatment of autism involves medical and behavioral therapies to help children with conversational language and social interactions. Treatment also involves helping children decrease their repetitive, self-stimulatory behaviors, tantrums and self-injurious behavior.

Medications can help treat specific symptoms such as aggressive or self-injurious behavior, inattention, poor sleep and repetitive behaviors. However, no medications are autism specific and medications should be used in conjunction with a family-centered, behavioral and educational program.

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Scientific Data Indicate Intelligence Comes From The Dad

The chances of intelligence coming from the father, or both parents, has scientific leverage. The assumption intelligence comes only from the mothers is a myth that neo-feminists would want to perpetuate.

  • Around 20% of the genes scientists currently associate with mental retardation are located on the X chromosome.
  • Mental retardation, such as autism, is associated with GENIUS or too much intelligence.

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Endophenotypes Common Variants And Domain Specificity In Asd

Autism and Genetics

The relationship of specific genetic variants with specific cognitive processes, such as language, highlight the notion that the broad syndrome of ASD can be broken down into many component, or intermediate phenotypes, referred to as endophenotypes. The familial segregation of endophenotypes provides a genetic basis for the broader phenotype described earlier. A logical extension of this concept is that these endophenotypes represent one end of the continuum of the normal spectrum of behavior and cognition . Several groups have demonstrated that this is indeed the case with respect to CNTNAP2 , as the same allele that increases risk for language delay in ASD, increases risk for specific language impairment and modifies language ability in the general population. Similarly, common variation in different ASD-associated CNTNAP2 single nucleotide polymorphism , has been shown to modulate brain morphology in several ASD related cortical regions in normal controls .

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Is Autism Hereditary A Closer Look At The Causes

The exact cause of ASD is not always easy to pin down from one person to the next. There are a few factors at play that impact a childs risk of developing autism. But at the top of this list is genetics, researchers are still looking for the exact genetic signature to fully say that autism is genetic, but they are getting closer every day.

In short, autism is hereditary. But there are other risk factors that can play into its development, such as biology and environmental factors. These causes merely factor into the cause of ASD they are not the primary reason a person might develop autism.

Some of the most common risk factors for autism, in conjunction with genetics, include:

  • A child born to older parents
  • Serious infections during gestation
  • Genetic disorders such as fragile X syndrome, tuberous sclerosis, and Down Syndrome

Not only this, but males are four times more likely to develop autism than females.

Is There A ‘cure’ For Autism

There is no known ‘cure’ for autism. We also believe that autism does not need a ‘cure’ and should be seen as a difference, not a disadvantage. We also warn people about fake cures and potentially harmful interventions here.

This does not mean that autistic people do not face challenges, but with the right support in place, they are more than capable of living fulfilling and happy lives. Because autism is a ‘spectrum’ condition it affects different people in different ways. It is therefore very difficult to generalise about how an autistic person will develop over time. Each person is different, and an intervention or coping strategy which works well with one person may not be appropriate or effective with another.The characteristics of autism can present themselves in a wide variety of combinations. Two people with the same diagnosis can have a very different profile of needs and skills.

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Social Environmental Changes And Decanalization

The decanalization concept may have sizable significance in searching the cause of the maintained or increasing prevalence of ASD. Canalization is an evolutionary phenomenon characterized by robustness to genetic or environmental perturbation, and most individuals tend to cluster around the optimal phenotype in canalized populations . If the phenotypic dimension consists of multiple endophenotypic vectors which have nonlinear relationships to each other and are partially determined by genetic factors, overt environmental perturbations for one of the endophenotypes can be the cue of decanalization, which changes the shape of the phenotypic demensional distribution . Social environmental perturbations may also shift the entire distribution of ASD liability, or move the liability threshold.

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