Christel Maritz Blog - Page 4 of 30

Lack of synaptic pruning in the neurodivergent brain

Scientists still haven’t pinpointed the exact cause of autism. It’s likely that there are multiple factors at play, but recently, research has shown a link between mutations in certain genes related to synaptic function and autism spectrum disorders (ASD).

Being neurodivergent (autistic) means having a brain that works differently from the average or “neurotypical” person. This may be differences in social preferences, ways of learning, ways of communicating and/or ways of perceiving the environment. A newly published brain-tissue study suggests that neurodivergent children have a surplus of synapses, or connections between brain cells. The excess is due to a slowdown in the normal pruning process that occurs during brain development, the researchers say.

Many genes linked to autism are known to affect the development or function of brain synapses. Indeed, the idea that individuals with autism have excess synapses has been proposed before.

During normal brain development, a burst of synapse formation occurs in infancy. This is particularly pronounced in the cortex, which is central to thought and processing information from the senses. But by late adolescence, pruning eliminates about half of these cortical synapses. All brains start with more connections than they need. The unusually large number in dendritic spines in children with autism may result from deficient pruning early in childhood. Alternatively, the typical pruning process may be overwhelmed by an unusually large number of neuronal connections in the amygdala.

To test this hypothesis, Columbia researcher Guomei Tang analyzed brain tissue from 26 children and young adults affected by autism. Thirteen of the children were between the ages of 2 and 9 when they died. Thirteen were between 13 to 20. For comparison, she also examined donated postmortem brain tissue from 22 children and teens who did not have autism.

Dr. Tang measured the abundance of synapses in a small section of cortical tissue from each brain. She found that, by late childhood, the density had dropped by about half in the brain tissue unaffected by autism. By contrast, it was reduced by around 16 percent in the brains from individuals who had autism.

She also found clues to what may have caused the lack of pruning. The brain cells from the individuals with autism were filled with damaged parts and deficient in signs of a normal breakdown pathway called “autophagy.” Cells use autophagy (Greek for “self-eating”) to breakdown components – include synapse connections.

Autophagy allows your body to break down and reuse old cell parts so your cells can operate more efficiently. It’s a natural cleaning out process that begins when your cells are stressed or deprived of nutrients. Researchers are studying autophagy’s role in potentially preventing and fighting disease.

Autophagy is not only the main process in the synaptic pruning function, but it also participates in maintaining the long‐term memory function. Autophagy is a self-cleaning mechanism within our cells, which helps your brain detoxify, repair and regenerate itself. It destroys the old, damaged, and malfunctioning components of your cells – and rebuilds new and healthier ones instead! Early synaptic pruning is mostly influenced by our genes. Later on, it’s based on our experiences. In other words, whether or not a synapse is pruned is influenced by the experiences a developing child has with the world around them. Constant stimulation causes synapses to grow and become permanent. But if a child receives little stimulation the brain will keep fewer of those connections.

Because large amounts of overactive mTOR were also found in almost all of the brains of the autism patients, the same processes may occur in children with autism. “What’s remarkable about the findings,” said Dr. Sulzer, “is that hundreds of genes have been linked to autism, but almost all of our human subjects had overactive mTOR and decreased autophagy, and all appear to have a lack of normal synaptic pruning. This says that many, perhaps the majority, of genes may converge onto this mTOR/autophagy pathway, the same way that many tributaries all lead into the Mississippi River. Overactive mTOR and reduced autophagy, by blocking normal synaptic pruning that may underlie learning appropriate behavior, may be a unifying feature of autism.”

The role of mTOR in Autism is involved in various neurodevelopmental processes, including neuronal differentiation, axon guidance, cell migration, and neural region patterning.

A drug that restores normal synaptic pruning can improve autistic-like behaviors in mice, the researchers found, even when the drug is given after the behaviors have appeared. “This is an important finding that could lead to a novel and much-needed therapeutic strategy for autism,” said Jeffrey Lieberman, MD, Lawrence C. Kolb Professor and Chair of Psychiatry at CUMC and director of the New York State Psychiatric Institute, who was not involved in the study.

Although the drug, rapamycin, has side effects that may preclude its use in people with autism, “the fact that we can see changes in behavior suggests that autism may still be treatable after a child is diagnosed, if we can find a better drug,” said the study’s senior investigator, David Sulzer, PhD, professor of neurobiology in the Departments of Psychiatry, Neurology, and Pharmacology at CUMC.

It is possible that screening for mTOR and autophagic activity will provide a means to diagnose some features of autism, and normalizing these pathways might help to treat synaptic dysfunction and treat the disease.

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NOTE FROM CHRISTEL MARITZ

“Neurodiversity” is a word used to explain the unique ways people’s brains work. While everyone’s brain develops similarly, no two brains function just alike. Being neurodivergent means having a brain that works differently from the average or “neurotypical” person. This may be differences in ways of communicating and/or ways of perceiving the environment. Because of this, a neurodivergent person has different struggles and unique strengths.

Resources:

The paper is titled, Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Other authors are: Kathryn Gudsnuk, Sheng-Han Kuo, Marisa L. Cotrina, Gorazd Rosoklija, AlexanderSosunov, Mark S. Sonders, Ellen Kanter, Candace Castagna, Ai Yamamoto, OttavioArancio, Bradley S. Peterson, Frances Champagne, Andrew J. Dwork, and James Goldman from CUMC; and Zhenyu Yue (Icahn School of Medicine at Mount Sinai). Marisa Cotrina is now at the University of Rochester. The authors declare no competing financial interests.

Being Self-aware or NOT?

LACK OF SELF-AWARENSS AS PART OF A Personality Disorders

Personality disorders are a group of mental health conditions that involve long-lasting, disruptive patterns of thinking, behavior, mood and relating to others.

People with personality disorders often don’t realize their thoughts and behaviors are problematic. Self-awareness is arguably the most fundamental issue in psychology, from both a developmental and an evolutionary perspective. It allows us to see things from the perspective of others, practice self-control, work creatively and productively, and experience pride in ourselves and our work as well as general self-esteem (Silvia & O’Brien, 2004). It leads to better decision making (Ridley, Schutz, Glanz, & Weinstein, 1992).

It is one of the first components of the self-concept to emerge. People are not born completely self-aware. Yet evidence suggests that infants do have a rudimentary sense of self-awareness. Being self-aware all the time is hard. In fact, there are many human flaws – or cognitive biases – that keep us from making rational decisions. It’s these human biases that cause a lack of self-awareness.

“Self-awareness is the ability to focus on yourself and how your actions, thoughts, or emotions do or don’t align with your internal standards.”

Internal self-awareness, represents how clearly we see our own values, passions, aspirations, fit with our environment, reactions (including thoughts, feelings, behaviors, strengths, and weaknesses), and impact on others. External self-awareness, means understanding how other people view us. When it comes to internal and external self-awareness, it’s tempting to value one over the other. The bottom line is that self-awareness isn’t one truth. It’s a delicate balance of two distinct, even competing, viewpoints.

Self-awareness is a crucial skill to have when it comes to being a kind, compassionate, and happy person. However, most humans are prone to doing things or making decisions that don’t seem self-aware at all.

Disorders of self-awareness frequently follow frontal lobe damage. Patients with bilateral lesions of the premotor cortex often have poor self-awareness and tap their fingers slowly. Patients with orbitofrontal lesions also may have impaired self-awareness, but their speed of finger tapping is normal.

Although most people believe that they are self-aware, true self-awareness is a rare quality. Self-awareness seems to have become the latest management buzzword — and for good reason. Research suggests that when we see ourselves clearly, we are more confident and more creative. We make sounder decisions, build stronger relationships, and communicate more effectively. We’re less likely to lie, cheat, and steal. We are better workers who get more promotions. And we’re more-effective leaders with more-satisfied employees and more-profitable companies.

Bodily self-awareness.
Social self-awareness.
Introspective self-awareness.

There are 4 keys to self-awareness—being intentional, thinking differently, building skills, and changing your context—that can make a vital difference in moving from passive self-awareness to dynamic action.

What disorder lacks self-awareness?

Individuals who have signs and symptoms of borderline personality disorder or narcissistic personality disorder have one major thing in common, a lack of self-awareness.

Why is self-awareness so important?

Being self-aware gives us the ability to end negative, unhealthy patterns. If you’re in a relationship with someone who seems to lack self-awareness, whether they have signs and symptoms of BPD or NPD, we need to get to the core of the issues. When someone is lacking self-awareness, it will contribute to arguments within the relationship. A person who lacks self-awareness doesn’t have the ability to fully see how their actions and attitude affect another person. When we look closely into an unhealthy relationship, we find a lack of self-awareness.

Lack of insight also typically causes a person to avoid treatment. When someone rejects a diagnosis of mental illness, it’s tempting to say that he’s “in denial.” But someone with acute mental illness may not be thinking clearly enough to consciously choose denial. They may instead be experiencing “lack of insight” or “lack of awareness.” The formal medical term for this medical condition is anosognosia, from the Greek meaning “to not know a disease.”

INTROSPECTION DOESN’T ALWAYS IMPROVE SELF-AWARENESS

It is also widely assumed that introspection — examining the causes of our own thoughts, feelings, and behaviors — improves self-awareness. After all, what better way to know ourselves than by reflecting on why we are the way we are?

We need to be sure we are self-aware and apply it to ourselves in order to be more successful in every aspect of our lives. Self-awareness is key to mindfulness and understanding oneself fully. Cultivating self-awareness requires an introspective approach, a system, and a process to actively and consciously engage in the recognition of ourselves as individuals. This means focusing on all of our being—our beliefs (open or limiting), our physical state of health, our mental state of health, our spiritual state of health, and more. It is an acceptance of all the good parts of ourselves and the areas that need improvement. It’s about who we are and what we do daily in each moment.

Featured

Characteristics of Dysfunctional Family

Imagine the mental condition of a child brought up in a dysfunctional family. When problems such as parental negligence, rigidity, alcoholism or abuse exist in the family, the smooth functioning of the family is disturbed, leading to constant conflicts, fights, arguments, and tension. Dysfunctional family problems that last for years come to seem normal, many people from dysfunctional families don’t recognize what makes their family dysfunctional. The specific reasons for a significant dysfunctional family are as numerous as the families that experience it.

Characteristic #1 – Addiction

Characteristic #2 – Control

Characteristic #3 – Unpredictability and Fear

Characteristic #4 – Conflict

Characteristic #5 – Abuse

Characteristic #6 – Perfectionism

Characteristic #7 – Poor Communication

Characteristic #8 – Mental Illness

Characteristic #9 – Lack of Privacy and Independence

There is an overall climate of instability, unpredictability and fear. Home is supposed to be a safe place where one finds comfort and support, but in a dysfunctional family, home can often be a place of terror, intimidation, yelling, fighting, crying, chaos and craziness.

There are poor boundaries or no boundaries. Kids don’t have the security of limits. They don’t learn how to respect someone else’s personal space, or know when their own space is violated. They don’t learn what is appropriate and what isn’t. They don’t have a clear sense of what is expected of them. They can’t determine if their behavior (or someone else’s behavior) is “over the line” if there aren’t any lines. They have to guess at what “normal” is. There is no clear guidance or direction provided for them to help them successfully navigate their way through life.

There is a lack of structure or cohesiveness. Rules are inconsistently enforced or can change unpredictably.

If you were raised in a dysfunctional family the best thing you can do is to forgive, and realize that not all people are alike. If however you find that it has a negative impact on your day to day living and you are not coping given the way or environment you were raised in, I strongly advise scheduling an appointment with me at cmaritz@webmail.co.za.

No person should endure nor forced to live with those haunting memories. Together we can explore healing methods for you or your family to regain trust and find ways to deal with the things you feel are impacting your life in a negative way on a daily basis.

Sources

http://fgbt.org/Leadership-Principles/the-eight-most-common-characteristics-of-a-dysfunctional-family.html

https://www.betterhelp.com/advice/family/dysfunctional-family-what-it-is-and-what-its-like-to-grow-up-in-one/

https://www.quora.com/What-are-the-signs-of-a-dysfunctional-family

The Unseen Effort: Navigating a Neurotypical World When “Normal” is a Constant Performance

The unique challenges faced by neurodivergent individuals often remain invisible because, on the surface, they frequently “look no different” from their neurotypical peers. This very lack of outward distinction, however, underscores the immense and constant effort required to navigate a world designed for a different cognitive and sensory landscape. Neurodivergence, encompassing conditions like autism, ADHD, dyslexia, and others, represents fundamental differences in how the brain processes information and interacts with the environment. While these differences are core to their being, the pressure to conform to neurotypical norms necessitates a persistent and often exhausting performance of “normalcy.”

Imagine constantly translating a foreign language in every interaction, filtering overwhelming sensory input that others barely notice, or trying to follow social cues that feel arbitrary and confusing. This is a glimpse into the daily reality for many neurodivergent individuals. They may learn to mask or camouflage their natural tendencies – suppressing stims, forcing eye contact, meticulously planning social interactions, or developing elaborate strategies to compensate for executive function challenges. To the outside world, they might appear to be functioning adequately, even seamlessly.

However, this outward presentation comes at a significant cost. The energy expended on maintaining this facade, on constantly monitoring and adjusting their behavior to fit in, is immense. This constant effort to appear “normal” while their internal experience is vastly different leads to a state of chronic stress and ultimately, neurodivergent burnout. This exhaustion isn’t simply tiredness; it’s a deep depletion that affects every aspect of their being – sensory processing becomes more acute, executive function deteriorates further, emotional regulation becomes more difficult, and social interactions feel even more draining.

The struggle lies in the disconnect between the outward presentation and the internal reality. Because they “look no different,” their difficulties are often underestimated or dismissed. The effort they exert to meet neurotypical expectations goes unnoticed, leading to a lack of understanding and support. This invisibility can compound feelings of isolation and invalidate their experiences, further contributing to burnout and impacting self-esteem.

Recognizing that “looking no different” doesn’t equate to experiencing the world in the same way is crucial. Understanding that the performance of normalcy is a significant and draining undertaking is the first step towards providing genuine support and fostering inclusive environments where neurodivergent individuals can be accepted and accommodated for who they are, rather than for how well they can mimic neurotypical behavior. Only then can we move towards a world where their inherent differences are understood and valued, reducing the immense pressure to constantly perform and mitigating the debilitating effects of neurodivergent burnout.