Sunday, April 27, 2025

Genetic Differences Between Autism and ADHD—and Why It Matters

On the surface, autism and ADHD might look like they share some overlapping behaviors, especially in areas like attention and impulsivity. But beneath those similarities, the genetic research on each reveals fundamental differences. And with more people receiving both diagnoses (often called AuDHD), genetic research is starting to explore how these conditions interact in the same person.



ADHD: A Focus on Dopamine and Attention

One of the most consistent findings in ADHD research is the role of dopamine, a neurotransmitter that helps regulate attention and motivation.  ADHD individuals often have differences in dopamine pathways, making it harder to focus and control impulses. Genetic research has honed in on genes like DRD4 and DAT1, which impact dopamine receptors and transporters, the mechanisms that manage dopamine levels in the brain. This focus on dopamine has led to effective ADHD treatments, such as stimulant medications that boost dopamine. But these meds don’t always work the same way in autism.

Another big area in ADHD genetic research is polygenic risk—the idea that many small genetic variations combine to raise ADHD risk. By studying these variations together, researchers are building genetic “risk scores” to better understand each person’s overall predisposition to ADHD.

Autism: A Complex Web of Genes

Autism, in contrast, has a more diverse genetic landscape. Autism genetics doesn’t just focus on one system like dopamine; it spans pathways involved in synaptic development (how brain cells connect) and sensory processing. Genes like SHANK3 and CHD8 are heavily studied because they’re critical for neuron communication, affecting social interaction and sensory integration.

Autism genetics includes both polygenic influences and rare, single-gene mutations. This mix shows that autism isn’t a “one-size-fits-all” condition and involves a wide range of genetic influences—making autism research complex but incredibly informative.

Why ADHD Medications Don’t Always Work in Autism

Since ADHD and autism have different genetic roots, treatments that work well for ADHD may not work the same way in autism. For example, stimulants boost dopamine levels and are effective for ADHD, but autism involves additional neurotransmitter systems like GABA and glutamate. For autistic individuals, boosting dopamine may not address their primary challenges and can even lead to side effects like increased anxiety or sensory sensitivity.

This phenomenon, called differential drug response, is why treatments need to be tailored more closely to each condition.

The Overlap- Understanding AuDHD

Many autistics also meet the criteria for ADHD, and research suggests they experience a unique blend of traits. Genetically, there are overlapping patterns, particularly in dopamine, serotonin, and synaptic pathways. This shared foundation is prompting researchers to think of autism and ADHD as conditions that can intersect within the same person, rather than existing in isolation.

Understanding the unique profile of AuDHD could reshape how we approach treatment. Right now, genetic testing and treatments for autism and ADHD often operate in silos, leading to medications being prescribed without considering their impact on combined traits. A focus on AuDHD could lead to integrated approaches that tailor interventions to address overlapping needs.


Bringing It All Together

In summary, ADHD genetics zeroes in on dopamine-related genes that influence attention and impulsivity, while autism genetics explores a wider range of genes involved in synaptic function, sensory processing, and neurodevelopment. For those with AuDHD, understanding these combined influences can lead to support and treatments that don’t just fit the condition but fit the individual.

This is the future of neurodevelopmental treatment—a future where we move from “one-size-fits-all” to “one-size-fits-one.”

How Autism Changes Perception

Seeing the World in More Detail: How Autism Changes Perception

Imagine walking into a busy street market. Most people see a blur of color and activity, a rush of sounds blending together—a vibrant but overwhelming scene. But for some autistics, this moment might feel different. They could notice the intricate patterns on the fabrics hanging in a shop, the slight variations in pitch from different voices, or the distinct texture of the pavement underfoot. These details pop out in a way that others might miss.

This heightened ability to perceive the world in more detail is a central idea behind the Enhanced Perceptual Functioning (EPF) model of autism. Proposed by Laurent Mottron and his team, the EPF model offers a refreshing way of understanding the sensory differences experienced by autistics —not as deficits, but as strengths.

What is the Enhanced Perceptual Functioning Model?

In simple terms, the EPF model suggests that many autistics have superior abilities when it comes to perceiving certain types of sensory information. This might mean they can pick up on subtle visual details, hear sounds that others tune out, or feel textures more intensely.

Let’s break down the key ideas:

  • Enhanced Sensory Abilities: Autistics might outperform NTs  in tasks like detecting fine details, distinguishing sounds, or noticing tiny changes in the environment. For example, while most of us might not notice a slight shift in a pattern, an autistic may immediately pick up on it.

  • Details Over Big Picture: One core idea of the EPF model is that perception tends to take precedence over higher-level cognitive processes like interpretation. While many people naturally try to see the “big picture” of what’s happening around them, autistics may focus more on specific details. This is why, in certain tasks, they excel at noticing things that others would miss.

  • Perception Runs Independently: The EPF model also suggests that autistic individuals’ sensory processing may work more independently from top-down cognitive influences like attention or expectations. This autonomy can allow for a clearer, less biased perception of the world, but it can also mean that irrelevant stimuli are harder to filter out, sometimes leading to sensory overload.

  • Strengths, Not Impairments: Where traditional models might view sensory sensitivities as impairments, the EPF model reinterprets them as the byproducts of enhanced sensory functioning. An autistic person might experience sensory overload because they are perceiving far more detail than the average person, not because their brain is malfunctioning.

Seeing Sensory Differences Through a New Lens

What does this mean in practice? Imagine that someone with autism is in a noisy restaurant. Instead of just hearing the hum of conversation, they may notice every individual voice, the clinking of silverware, the hum of the air conditioner—every layer of sound. In this scenario, sensory overload can occur because they’re processing more sensory input, not less. Their brain is tuned into the fine details of the environment.

But these heightened perceptual abilities can also be a tremendous strength. Consider autistic artists who create incredibly detailed, realistic drawings, or musicians who can identify subtle differences in pitch. This kind of attention to detail has led to extraordinary achievements in various fields, from scientific research to creative arts.

Beyond the Stereotypes: Autism’s Hidden Potential

The EPF model encourages us to move beyond the deficit-based view of autism, which focuses solely on challenges. Instead, it invites us to think about the hidden potential that comes with enhanced sensory abilities. For instance, many autistics have made major contributions to fields that require precise attention to sensory detail, like visual arts, music composition, and even coding.

By recognizing and embracing these strengths, we can create environments that allow autistic people to thrive. Schools, workplaces, and social settings can be designed to harness these abilities, turning what might traditionally be viewed as a challenge into a powerful tool.

A Shift in Thinking

The Enhanced Perceptual Functioning model of autism offers a new way to understand sensory experiences in autism—not as impairments, but as areas of enhanced ability. This shift in thinking has profound implications for how we support, educate, and interact with autistic individuals. It encourages us to focus on the strengths that often come with heightened perception and to consider how those strengths can be celebrated and integrated into society.

Next time you’re in a bustling environment, pause and think: what if you could notice every small detail, every nuance of sound and texture? For some, this is not just a possibility—it’s their reality, and it comes with both challenges and strengths.

Sunday, April 21, 2024

Shafer et al 2021

Shafer et al 2021

  • Autistics show reduced ability to integrate somatosensory feedback for precision manual motor behavior 
  • Disrupting somatosensory feedback through tendon vibration increased force variability in typically developing individuals only, indicating distinct sensory feedback mechanisms in autism
  • Sensorimotor deficits in autism may normalize by adolescence, impacting cognitive and social development 
  • Autistics rely predominantly on visual feedback, suggesting deficits in parietal-cerebellar networks for integrating sensory feedback 
  • Autistics predominantly rely on visual feedback for precision manual motor control 
  • Somatosensory feedback integration is reduced in individuals with autism, leading to challenges in guiding motor behavior 
  • Sensorimotor deficits in autism impact the ability to integrate somatosensory feedback, potentially affecting motor coordination
  • Autistics show deficits in processing sensory feedback to adjust ongoing motor behaviors, with atypical reliance on visual and somatosensory feedback during motor tasks 
  • Autistics exhibit reduced ability to integrate somatosensory feedback, leading to challenges in guiding precision manual motor behavior 
  • The reliance on visual feedback is predominant in autistm, indicating deficits in parietal-cerebellar networks for integrating sensory feedback 

 

Shafer, R. L., Wang, Z., Bartolotti, J., & Mosconi, M. W. (2021). Visual and somatosensory feedback mechanisms of precision manual motor control in autism spectrum disorder. Journal of neurodevelopmental disorders13, 1-17

Mosconi et al 2015

 Key Takeaways. 

  • Autistics show disruptions in both feedforward and feedback motor control mechanisms, implicating anterior and posterior cerebellar circuits 
  • The severity of visuomotor abnormalities in autism is dependent on the level of demand on the motor system, with increased reliance on slower feedback mechanisms observed.
  • Autistics exhibit a profile of motor control abnormalities similar to those seen in patients with cerebellar lesions, suggesting intrinsic alterations in cerebellar circuits in autism.
  • Disruptions in feedforward control of force output are observed in autism, even when joint-coordination functions are not required, indicating impairments in planning functions of the cerebellum.

Mosconi, M. W., Mohanty, S., Greene, R. K., Cook, E. H., Vaillancourt, D. E., & Sweeney, J. A. (2015). Feedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder. Journal of Neuroscience35(5)

Friday, July 7, 2023

Autistic traits in general adult population

I'm somewhat conflicted on this research paper. We have hardly gotten around to understanding and finding solutions for the vast heterogeneity that is autism today. Frankly its one hot mess right now

Are we adding to the confusion with studies like this which are going about investigating general population to see if they too have "autistic traits." Its almost like saying everyone has some autistic traits which is nice for a coffee discussion but is distracting us from focus on research basd solutions that many of the more impacted autistics desperately need.

Palmer CJ, Paton B, Enticott PG, Hohwy J. 2015. “Subtypes” in the presentation of autistic traits in the general adult population. J. Autism Dev. Disord. 45:1291–301 

Key Findings.

  • The study examined the presentation of autistic traits in a large adult population sample using the Autism-Spectrum Quotient (AQ).
  • Cluster analysis was used to identify two subgroups with distinguishable trait profiles related to autism.
  • The first subgroup (n = 1,059) reported significantly higher scores on the AQ subscales related to social difficulties (Social Skills and Communication) and significantly lower scores on the Detail Orientation subscale.
  • The second subgroup (n = 1,284) reported significantly higher scores on the Detail Orientation subscale and significantly lower scores on the Social Skills subscale.
  • The study also found that the AQ had a three-factor solution, with two related social-themed factors (Sociability and Mentalising) and a third non-social factor that varied independently (Detail Orientation).
  • These findings suggest that there is significant variability in the presentation of autistic traits in the general adult population, and that different profiles of autistic characteristics tend to occur in nonclinical populations.

The Landmark Task

[concepts in Sensorimotor research]

The landmark task is a commonly used experimental paradigm to investigate spatial perception and cognition, particularly in relation to spatial memory and navigation. It involves presenting participants with a specific location or object in an environment and assessing their ability to remember and use that information to orient themselves.

In the landmark task, participants are typically placed in an unfamiliar environment or VR simulation where they are exposed to various landmarks. These landmarks can be objects, distinct features, or specific locations within the environment. The participants' task is to remember the location or arrangement of the landmarks and use them as reference points for subsequent navigation or spatial judgments.

After the initial exposure to the landmarks, participants may be asked to perform various tasks, such as:

  • Landmark Recognition: Participants are shown a set of landmarks, including both the ones they previously encountered and new ones, and are asked to identify the ones they remember.
  • Landmark Recall: Participants are asked to verbally describe or draw a map of the environment, indicating the locations and features of the landmarks they remember.
  • Landmark Localization: Participants are instructed to physically move or point to the location of specific landmarks within the environment.
  • Landmark Navigation: Participants are required to navigate through the environment to reach a target location, using the remembered landmarks as a guide.

The landmark task provides researchers with insights into spatial memory, cognitive mapping, and the ability to use environmental cues for navigation. By examining participants' performance on tasks like landmark recognition, recall, localization, and navigation, researchers can evaluate their spatial perception, memory accuracy, and strategies for spatial orientation.

The landmark task has been used in various fields of research, including cognitive psychology, neuroscience, and spatial cognition. It has provided valuable insights into the mechanisms underlying spatial memory, the role of landmarks in navigation, and the differences in spatial abilities among individuals.


Monday, June 26, 2023

Pseudoneglect

Pseudoneglect refers to a phenomenon in which people exhibit a bias or tendency to allocate more attention or perceptual processing to the left side of space than the right side (or vice versa). Despite the term "neglect" in its name, pseudoneglect does not indicate an actual neglect of the opposite side but rather an asymmetry in attention allocation.

The term "pseudoneglect" was coined by Bowers and Heilman in 1980 when they observed a leftward bias in line bisection tasks, where participants were asked to mark the midpoint of a horizontal line. They found that most individuals tend to place the mark slightly to the left of the true center, indicating a bias toward the left side of the line.

This phenomenon has been attributed to the dominance of the right hemisphere in spatial attention and perception. The right hemisphere of the brain is generally considered to be more involved in processing spatial information, while the left hemisphere is typically associated with language and analytical functions. As a result, the right hemisphere's dominance may contribute to a leftward attentional bias, leading to pseudoneglect.

Pseudoneglect has been observed in various perceptual tasks, including line bisection, line length estimation, and visual search. It is thought to reflect a normal asymmetry in attentional processing rather than a pathological condition.

Understanding pseudoneglect can have implications for studying brain function and spatial cognition. Researchers have used this phenomenon to explore the mechanisms underlying spatial attention, hemispheric specialization, and disorders such as neglect syndrome, where there is a true deficit in attending to one side of space.