Infantile Autism v Regressive Autism

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Infantile Autism vs Regressive Autism

April 18 is Regressive Autism Day

Regressive autism / late-onset autism /acquired autism, is where a child develops typically in early childhood meeting all developmental milestones, but then experiences a loss of previously acquired skills, at around 1.5 years to 4 years. Estimates of regressive autism range from 30 - 44% of kids who get diagnosed with autism in childhood. (1,2,3)

This loss/regression is especially evident in the areas of social communication and interaction; such as loss of interest in social interaction, loss of eye contact, loss of spoken language, loss of motor skills and the development of repetitive behaviors. 

For instance, I met all my developmental milestones till 1.5 years, including the ability to able to speak short phrases. I was the happy social butterfly at my first birthday party; I interacted with everyone at the party. I pointed to the distant bird sitting on a tree and engaged in joint attention activities. 

But after my regression at 16-18 months, I lost a majority of the previous skills. By age 2, I lost the ability to talk, the ability to make eye contact, the ability to point, the ability to do a pincer grasp and the ability to hold a spoon. I no longer recognized even my parents. I hid under the table, walked on tiptoe, endlessly spun the wheels on my tricycle and lined up every toy in the house. I was in a confused and dazed state and cried most of the time in daycare. I fussed for eating and sleeping. 

This week, we had studied Alzheimers in my Cell Neuroscience class. In addition to understanding brain function, we had also watched videos of lived experiences. For the folks with Alzheimer's its like their world associations just fade away, they no longer recognize even family members in addition to loss of functioning skills and even language. Ergo, there is a massive regression. There is now a desperate search for research into solutions to reverse this process.

DEJA VU!! - Regressive Autism is like Alzheimers in toddlerhood itself where you forget even your family, instead of in old age. Something must have happened to cause this memory loss and this functioning loss. I can understand why parents of young children find this heartbreaking; they suddenly become strangers for own children. 

Why is there not equal importance given to find causes and ways to stop this massive slide seen in regressive autism during toddlerhood, why is loss of skills only seen as a problem if it happens in adulthood?

TBI Regressive Autism

Ameliorating Hemianopia with Multisensory Training (Rowland et al., 2023)

Quick Summary of paper . An  visual-auditory stimulation therapy was used on two older males  who has loss of vision in the left hemifield (hemianopia). The cause was brain trauma (TBI) rather than lesion.  Prior to joining the study both had been referred to PT and OT as rehabilitation measures. 

• 64 year old JM joined the study 14 months after stroke  (2 infracts)
• 74 year old CW joined the study ~18 months after 1 infract (better sighted field compared to JM). 
• Therapy took place over 8 months /10 sessions 

The results were dramatic. Both patients recovered the ability to detect and describe visual stimuli throughout their formerly blind field within a few weeks. They could also localize these stimuli, identify some features, and perceive multiple visuals simultaneously in both fields. (more detail on paper here link)

Relating all this back to Autism

So impressive about being able to restore sight in a matter of 8 months, given therapy was started 14-18 months after infract and not immediately and it was in older adults. 

Why is regressive autism not thought to be TBI at 18 mo, where there is a sudden loss of learned skills. 

• If TBI --> can those lost skills not be regained through targeted therapy. If you can restore skills in 60-70 yr old, should be able to, in a younger more plastic brain. 
• If TBI -->  is this related to CW & JM having practice with vision for 60-70+ years vs toddlers who only have practice with the skills for 18 mo.

Rethink Traditional Therapies

• CW & JM  had PT/OT for 14-18 mo before joining study; implication these therapies not that useful for regaining lost skills. 
• Autistics kids are in insane amounts of therapy (childhood stuffed with ABA/speech/OT every waking hr with little advances to show for it other than the $$$ spent and lots of career advancement for therapists). 
•  Maybe we need rethink early childhood therapy to be more targeted to restore lost skills. Even regaining that level of lost skills improves quality of life, let alone moving beyond.

Regressive Autism

PlainSpeak for Lay Reader

Regressive autism, also called late-onset or acquired autism, is when a child starts losing skills they had developed, particularly in talking and interacting with others. This usually happens between 15 and 30 months old. Initially, these children might seem to be developing typically, but then they start having trouble communicating, become less social, avoid eye contact, and may show repetitive behaviors like hand-flapping or lining up toys. This change can be very upsetting for both the child and their family.

Possible Explanations for Regressive Autism

1. Genetic Factors: Some kids may be more likely to develop regressive autism if there is a history of autism or similar conditions in their family. This suggests that genetics might play a role.

2. Environmental Triggers: Certain environmental factors, such as exposure to toxins or infections, might trigger autism in children who are already at risk because of their genetics. However, the exact links are not yet clear.

3. Immune System Issues: Some children with regressive autism have abnormal immune responses. This means their bodies might react differently to infections or other immune challenges, which could be linked to the regression of skills.

4. Brain Changes: Changes in brain development and how brain cells connect with each other are being studied to understand why some children lose skills. These changes can affect how the brain processes information.

5. Mitochondrial Dysfunction: Mitochondria are parts of cells that produce energy. Problems with mitochondria might affect brain development and function, which could contribute to autism symptoms.

6. Neuronal Pruning: During normal brain development, the brain removes excess neurons and connections to work more efficiently, a process called pruning. In autism, this pruning process might not work properly. Too much pruning can lead to losing important connections, while too little can result in too many connections, both of which can disrupt normal brain function and contribute to the loss of skills seen in regressive autism.

These explanations are still being researched, and scientists are working to better understand the causes and find effective ways to support children with regressive autism and their families

2 versions of this post

For Scientific/Academic Audience

PlainSpeak - For Lay Reader

Regressive Autism

Regressive autism, also known as late-onset or acquired autism, is characterized by the loss of previously acquired developmental skills, particularly in social communication and interaction. This regression typically occurs between 15 and 30 months of age, where children may initially develop normally but then experience a decline in verbal communication, social engagement, and may exhibit decreased eye contact, along with an increase in repetitive behaviors. This regression often leads to significant distress for both the child and caregivers.

Explanations and Theories for Regressive Autism

1. Genetic Factors: There is evidence suggesting a genetic predisposition to regressive autism. Children with this form of autism may have a family history of autism or other developmental disorders, indicating a potential genetic component (Zwaigenbaum et al., 2009).

2. Environmental Triggers: Environmental factors, such as exposure to certain toxins, infections, or other external stressors, have been hypothesized to trigger regression in children who are genetically predisposed. However, clear causal relationships are not well established (Hertz-Picciotto et al., 2006).

3. Immune System Abnormalities: Abnormal immune responses or autoimmunity have been linked to regressive autism. Research has identified irregularities in the immune systems of children with autism, which might contribute to the regression of skills (Ashwood et al., 2006).

4. Neurological Factors: Changes in brain structure and function, including abnormalities in brain development and connectivity, are being explored as potential explanations for regression (Courchesne et al., 2007).

5. Mitochondrial Dysfunction: Mitochondrial dysfunction, which affects energy production in cells, is another area of research in autism, including regressive forms. Dysfunction in these cellular processes could impact neurodevelopment (Rossignol and Frye, 2012).

6. Neuronal Pruning: Abnormal neuronal pruning is a significant area of interest. Neuronal pruning is a natural process during brain development where excess neurons and synaptic connections are eliminated to optimize brain function. In autism, including regressive autism, either excessive pruning (leading to a loss of necessary neural connections) or insufficient pruning (resulting in too many synapses) could disrupt normal brain function and development. This disruption may contribute to the loss of previously acquired skills in regressive autism (Tang et al., 2014; Varghese et al., 2017). Genetic studies have linked mutations in genes involved in synaptic pruning, such as MECP2, SHANK3, and PTEN, to autism spectrum disorders (Penzes et al., 2011). [READ MORE ON NEURONAL PRUNING]

Citations

• Zwaigenbaum, L., et al. (2009). The changing epidemiology of autism spectrum disorders. Canadian Journal of Psychiatry, 54(7), 533-540.
• Hertz-Picciotto, I., et al. (2006). The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environmental Health Perspectives, 114(7), 1119-1125.
• Ashwood, P., et al. (2006). The immune response in autism: a new frontier for autism research. Journal of Leukocyte Biology, 80(1), 1-15.
• Courchesne, E., et al. (2007). Mapping early brain development in autism. Neuron, 56(2), 399-413.
• Rossignol, D. A., & Frye, R. E. (2012). Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Molecular Psychiatry, 17(3), 290-314.
• Tang, G., et al. (2014). Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron, 83(5), 1131-1143.
• Varghese, M., et al. (2017). Autism spectrum disorder: neuropathology and animal models. Acta Neuropathologica, 134(4), 537-566.
• Penzes, P., et al. (2011). Dendritic spine pathology in neuropsychiatric disorders. Nature Neuroscience, 14(3), 285-293.

Infantile vs Regressive Autism

 Autism Lexicon

Infantile autism, also known as classic autism, is characterized by significant impairments in social interaction, communication, and the presence of restricted, repetitive behaviors. It is typically diagnosed in early childhood, before the age of three. Core symptoms often include delayed or absent speech development, challenges in engaging in typical social interactions, and a preference for routines or repetitive movements.

Regressive autism, also termed late-onset or acquired autism, involves a marked loss of previously acquired developmental skills, particularly in social communication and interaction. This regression typically manifests between 15 and 30 months of age. Children may initially develop normally but then experience a decline in verbal communication, social engagement, and may exhibit decreased eye contact, along with an increase in repetitive behaviors. [Read more on Regressive Autism] 

PlainSpeak

Infantile autism, or classic autism, is a type of autism diagnosed early, usually before a child turns three. Children with this condition often have delayed speech, find it hard to interact socially, and may show repetitive behaviors like hand-flapping or lining up toys.

Regressive autism happens when a child starts developing normally but then loses skills they once had, especially in talking and interacting with others. This usually occurs between 15 and 30 months old. A child might stop using words they knew, become less interested in playing with others, avoid eye contact, and start showing repetitive behaviors. This sudden change can be very challenging for both the child and their family. [PlainSpeak: Read more on Regressive Autism]