Childhood Apraxia of Speech-Symptoms, treatments, exercises

Childhood Apraxia of Speech-Symptoms, treatments, exercises

auditory processing disorder

Childhood apraxia of speech (CAS) is a neurological disorder that affects an individual’s ability to produce speech sounds accurately and fluently. CAS is caused by difficulty planning and coordinating the muscle movements needed for speech, and is not caused by weakness or paralysis of the muscles used for speech.

Symptoms of CAS may include:

  1. Difficulty producing sounds: Children with CAS may have difficulty producing certain sounds or may not be able to say words or sounds correctly.
  2. Difficulty with the rhythm and flow of speech: Children with CAS may have difficulty with the rhythm and flow of speech, and may have a choppy or halting speech pattern.
  3. Difficulty with language skills: Children with CAS may have difficulty with language skills, such as understanding and using words and sentences.

Treatment of CAS

CAS can affect children of any age and can range in severity. Treatment for CAS typically involves speech therapy, which can help children improve their speech production skills and develop more effective communication strategies. In some cases, medications may be used to help manage specific symptoms of CAS, such as anxiety or hyperactivity. It is important to note that treatment for CAS is typically tailored to the individual’s specific needs and may involve a combination of therapies and interventions. A healthcare professional, such as a speech therapist or psychologist, can help develop an appropriate treatment plan.

Treatment for childhood apraxia of speech (CAS) typically involves speech therapy, which can help children improve their speech production skills and develop more effective communication strategies. The goals of speech therapy for CAS may include:

  1. Improving speech sound production: Speech therapy can help children with CAS learn to produce speech sounds more accurately and fluently. This may involve activities and exercises to help improve muscle control and coordination.
  2. Improving language skills: Speech therapy can also help children with CAS improve their language skills, such as understanding and using words and sentences.
  3. Developing compensatory strategies: Speech therapy can help children with CAS develop compensatory strategies, such as using gestures or visual aids, to help them communicate more effectively.

Here are a few exercises that may be beneficial for a child with Childhood Apraxia of Speech (CAS):

  1. Articulation exercises: Children with CAS often struggle with the physical movements needed to produce speech sounds correctly. Exercises that focus on the muscles of the face and mouth, such as blowing bubbles, blowing through a straw, or blowing up balloons, can help to improve the child’s ability to coordinate the movement of their speech muscles.
  2. Repetition exercises: Children with CAS may benefit from repeating words and phrases to improve their ability to coordinate the movements needed for speech. This can be done by repeating simple words or phrases, such as “mom” or “I want juice,” in isolation or in short phrases or sentences.
  3. Imitation exercises: Children with CAS may benefit from imitating the speech of others. The child can watch or listen to a model speak and then imitate what they hear. This can help to improve the child’s ability to coordinate the movements needed for speech.
  4. Auditory bombardment: The child listen to different words and phrases repeatedly, which exposes them to a wide range of sounds and words, which helps them in their development of speech sounds.
  5. Tactile cueing: Children with CAS may benefit from having a tactile cue to remind them of the correct position of the articulators. This can be done by placing an object such as a popsicle stick in the child’s mouth to remind them of the correct position for speech sounds.
  6. Motor planning exercises: Children with CAS struggle with planning and coordinating the muscle movements required for speech, so exercises that target this area can be helpful. this can be done by asking child to move their body in specific ways while they are saying a word or phrase, such as making big arm movements while saying the word “big” or touching their nose while saying “nose.”
Resources
  • m B-R, SeoH-S, Ku J-M, et al. Silibinininhibits the production of pro-inflammatory cytokines through inhibition of NF-κB signaling pathway in HMC-1 human mast-cells. Inflammation. Research. 2013;62(11):941-950. doi:10.1007/s00011-013-0640-1.
  • ChapowalA. PetasitesStudy Group. Randomisedcontrolled trial of butterbur and cetirizine for treating seasonal allergic rhinitis. BMJ 2002;324:144-6.
  • Hayes, N. A. and Foreman, J. C. The activity of compounds extracted from feverfew on histamine release from rat mast-cells. J Pharm Pharmacol1987;39(6):466-470
  • Hsieh et al. Baicalein inhibits IL-1ß- and TNF-a-induced inflammatory cytokine production from human mast-cells via regulation of the NF-?B pathway. ClinMolAllergy. 5: 5. 2007.
  • TheoharidesTC, Patra P, Boucher W, et al. Chondroitin sulphateinhibits connective tissue mast-cells. British Journal of Pharmacology. 2000;131(6):1039-1049. doi:10.1038/ sj.bjp.0703672.
  • Ro JY, Lee BC, Kim JY, et al. Inhibitory mechanism of aloe single component (alprogen) on mediator release in guinea pig lung mast-cells activated with specific antigenantibodyreactions. J PharmacolExpTher. 2000;292:114–121. 73.
  • https://www.ncbi.nlm.nih.gov/pubmed/24477254
  • https://www.ncbi.nlm.nih.gov/pubmed/28458279
  • https://www.ncbi.nlm.nih.gov/pubmed/9421440
  • https://www.ncbi.nlm.nih.gov/pubmed/10344773
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315779/
Auditory Processing Disorder – What Is It and How Can You Help Your Child?

Auditory Processing Disorder – What Is It and How Can You Help Your Child?

APD-autism

Auditory Processing Disorder (APD) is a neurological disorder that affects the way the brain processes and interprets sound. It occurs when the brain has difficulty processing and understanding what is heard, even when the sound itself is clear and loud enough. Those with APD may have difficulty comprehending and responding to verbal instructions, as well as difficulty understanding speech in noisy environments. If you suspect your child may have Auditory Processing Disorder, it is important to understand more about the condition and how you can help.

What is Auditory Processing Disorder?

Auditory Processing Disorder (APD) is a neurological disorder that affects how the brain processes sound. It’s sometimes referred to as central auditory processing disorder (CAPD) or auditory processing impairment (API). People with APD often have difficulty understanding what they hear, even though their ears and hearing are normal. This can cause them to have trouble following instructions, understanding conversations, and learning in the classroom.

APD is distinct from other forms of hearing loss, such as conductive hearing loss and sensorineural hearing loss. It also differs from autism spectrum disorder, as APD involves difficulties interpreting sound and responding appropriately, while autism typically involves difficulties in social interactions, communication, and behavior.

With proper diagnosis and treatment, many people with APD can lead happy and successful lives.

The Signs and Symptoms of APD

Auditory Processing Disorder (APD) is a type of learning disability that affects a person’s ability to process and interpret auditory information. It can impact a person’s ability to comprehend spoken language and follow directions. It can even affect their ability to recognize environmental sounds, such as a doorbell ringing or an alarm clock going off. People with APD may find it difficult to focus in noisy environments and have difficulty understanding complex instructions.

People with APD can experience a wide range of signs and symptoms, depending on the severity of their disorder. These can include:

  • Difficulty understanding speech, especially in noisy environments
  • Struggling to distinguish subtle differences in sound and pronunciation
  • Not responding to verbal instructions
  • Poor sound localization and poor sound discrimination
  • Difficulty following conversations
  • Poor listening skills
  • Having difficulty learning new words and/or pronunciations
  • Poor reading comprehension
  • Trouble with organizing sounds, syllables, words and sentences
  • Mishearing and misinterpreting what has been said
  • Difficulty recalling sequences of spoken words
  • Difficulty with problem solving tasks
  • Issues with attention, memory and concentration

Individuals with autism are particularly prone to having APD, due to their difficulty with social communication. However, some people with APD do not have autism. In fact, some people may have APD without any other signs or symptoms of a learning disability.

The Different Types of APD

Auditory Processing Disorder (APD) can be divided into three categories: Central Auditory Processing Disorder (CAPD), Auditory Discrimination Disorder (ADD), and Auditory Integration Disorder (AID).

Central Auditory Processing Disorder (CAPD) is a type of APD that affects how the brain processes and interprets sounds. This can include difficulty understanding spoken language, difficulty following directions, difficulty with memory recall and learning new concepts, and poor concentration. Children with CAPD may also experience auditory figure-ground problems, where they have difficulty distinguishing one sound from another in a noisy environment.

Auditory Discrimination Disorder (ADD) is a type of APD that affects how the brain recognizes and discriminates between different sounds. Children with ADD may have difficulty recognizing and distinguishing between similar sounds, or have difficulty hearing certain tones, frequencies, or volume changes.

Auditory Integration Disorder (AID) is a type of APD that affects how the brain organizes and interprets sound patterns. This can include difficulty understanding the meaning of words in context, difficulty following conversations, and difficulty distinguishing between left and right sound localization. Children with AID may also have trouble filtering out background noise or have difficulty processing speech quickly enough to understand it.

No matter which type of APD a child is diagnosed with, it is important to keep in mind that each child is unique and will require individualized treatment plans. With the right help and support, children with APD can learn to manage their symptoms and live a full life.

Causes of APD

Auditory Processing Disorder is a complex disorder, and the exact causes are still not known. However, researchers believe that it may be due to a combination of genetic and environmental factors.

Genetic Factors: Some research suggests that Auditory Processing Disorder may be caused by an inherited genetic predisposition. It has been suggested that auditory processing deficits can run in families, although more research is needed to confirm this.

Environmental Factors: It is also possible that Auditory Processing Disorder can be caused by environmental factors such as prolonged exposure to loud noise or sustained listening to speech in a noisy environment. It is important to note that APD is not caused by hearing loss or language problems.

The combination of these two factors may make some people more susceptible to developing APD than others. It is important to note that each individual is unique, so it is impossible to pinpoint an exact cause for any given case of APD.

How is APD Diagnosed?

Auditory Processing Disorder (APD) can be difficult to diagnose, as the symptoms can overlap with other conditions. In order to get an accurate diagnosis, it is important to work with a professional who specializes in APD.

Diagnosis of APD typically begins with a hearing test. This test will measure how well the person can hear sounds at different frequencies and volumes. A person with APD may have normal hearing but still have difficulty processing auditory information.

The next step in diagnosing APD may involve the use of questionnaires or interviews that assess the person’s listening skills. Speech-language pathologists may also use tests of auditory memory, attention, and language to determine if there is an auditory processing disorder present.

In some cases, additional tests may be used to look for other conditions that could be causing the APD symptoms. These tests might include brain scans, blood tests, and genetic testing.

Once APD has been diagnosed, the professional will recommend treatments and strategies to help the person cope with their condition. With the right treatment plan, many people with APD can lead successful lives.

Treatments for APD

Auditory Processing Disorder (APD) is a complex disorder that can be difficult to diagnose and treat. As a parent of a child with APD, it’s important to know that there are several treatment options available. The key is to find the one that works best for your child.

The primary treatment for APD is speech therapy. Speech therapists work with children on ways to improve their auditory processing skills, such as sound recognition and word discrimination. Speech therapists also work to help children understand and use language more effectively.

Occupational therapists can help children with APD develop strategies to cope with the disorder. This includes learning new coping mechanisms, sensory integration techniques, and problem-solving strategies.

Auditory training is a form of therapy that involves using listening exercises and activities to help a child improve their auditory processing skills. It focuses on improving the child’s ability to recognize, process, and respond to sounds in different environments.

In addition to traditional therapies, alternative therapies such as neurofeedback, music therapy, and sound therapy have been used to help children with APD. Neurofeedback helps children learn to control and regulate their brainwave patterns, which can help them focus better and improve their auditory processing skills. Music therapy uses musical exercises to help children improve their auditory processing skills, while sound therapy uses sound frequencies to help children focus better.

It is important to remember that each child is unique and will respond differently to treatments. Be sure to talk with your doctor and therapist about the best treatment plan for your child. With the right support and resources, your child can lead a happy and successful life with APD.

Here are a few examples of exercises that may be used in therapy for a child with auditory processing disorder:

  1. Auditory memory exercises: These exercises can help improve a child’s ability to remember and recall sounds, such as words or phrases. For example, the therapist might play a series of words or phrases, and then ask the child to repeat them back in the same order. The child can progress by having more words or longer phrases to repeat.
  2. Auditory discrimination exercises: These exercises can help a child learn to distinguish between different sounds, such as different words or sounds in words. For example, the therapist might play a pair of words, such as “cat” and “hat,” and ask the child to identify which one was said. Or the therapist might play two similar sounding words like “bat” and “pat” and ask the child to identify which one was said.
  3. Auditory figure-ground exercises: These exercises can help a child learn to focus on a specific sound while filtering out background noise. For example, the therapist might play a recording of a voice speaking in a noisy background and ask the child to listen for a specific word or phrase. As the child improves, background noise can be made more complex.
  4. Auditory closure exercises: These exercises can help a child with difficulty completing or understanding incomplete sentences. The therapist might play a recording of a sentence that is interrupted and ask the child to fill in the missing word or phrase.
  5. Auditory directionality: Exercises that involve focusing on different sounds coming from different directions. These exercises can help children with APD to understand spatial relationships. For example, the therapist might play a sound or a word coming from one direction and then another and ask the child to identify the direction of the sound.

At home

At home, these strategies that can help your child:

  • Reduce background noise whenever possible.
  • Have your child look at you when you speak. This helps give your child visual clues to “fill in the gaps” of missing speech information.
  • Give your child simple verbal directions with less words, a key word to remember, and fewer steps. 
  • Speak at a slightly slower rate with a clear voice. Louder does not always help. 
  • Ask your child to repeat the directions back to you to ensure they understand.
  • For directions to be completed later, writing notes, keeping a chore chart or list, using calendars with visual symbols, and maintaining routines can help.
  • Many kids with APD find using close captions on TV and computer programs helpful.
Resources
  • m B-R, SeoH-S, Ku J-M, et al. Silibinininhibits the production of pro-inflammatory cytokines through inhibition of NF-κB signaling pathway in HMC-1 human mast-cells. Inflammation. Research. 2013;62(11):941-950. doi:10.1007/s00011-013-0640-1.
  • ChapowalA. PetasitesStudy Group. Randomisedcontrolled trial of butterbur and cetirizine for treating seasonal allergic rhinitis. BMJ 2002;324:144-6.
  • Hayes, N. A. and Foreman, J. C. The activity of compounds extracted from feverfew on histamine release from rat mast-cells. J Pharm Pharmacol1987;39(6):466-470
  • Hsieh et al. Baicalein inhibits IL-1ß- and TNF-a-induced inflammatory cytokine production from human mast-cells via regulation of the NF-?B pathway. ClinMolAllergy. 5: 5. 2007.
  • TheoharidesTC, Patra P, Boucher W, et al. Chondroitin sulphateinhibits connective tissue mast-cells. British Journal of Pharmacology. 2000;131(6):1039-1049. doi:10.1038/ sj.bjp.0703672.
  • Ro JY, Lee BC, Kim JY, et al. Inhibitory mechanism of aloe single component (alprogen) on mediator release in guinea pig lung mast-cells activated with specific antigenantibodyreactions. J PharmacolExpTher. 2000;292:114–121. 73.
  • https://www.ncbi.nlm.nih.gov/pubmed/24477254
  • https://www.ncbi.nlm.nih.gov/pubmed/28458279
  • https://www.ncbi.nlm.nih.gov/pubmed/9421440
  • https://www.ncbi.nlm.nih.gov/pubmed/10344773
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315779/
The Association of Social and Cognitive Impairment With Biomarkers in Autism Spectrum Disorders

The Association of Social and Cognitive Impairment With Biomarkers in Autism Spectrum Disorders

social and cognitive development in autism

Autism is a complex neurodevelopmental disorder that affects individuals in different ways. However, many individuals with autism spectrum disorders (ASD) exhibit social and cognitive impairments. Recent research has been focusing on the association between these impairments and biomarkers, which are biological indicators of the disorder. In this blog post, we will explore the association of social and cognitive impairments with biomarkers in autism spectrum disorders

Method of the study

To investigate the association between social and cognitive impairments and biomarkers in autism spectrum disorders (ASD), a systematic review and meta-analysis of existing research studies were conducted. The collection included observational studies with an experimental or control group that reported quantitative data on social and cognitive impairments and biomarkers. Data from the included studies, including age, study design, sample size, population characteristics, types of social and cognitive impairments, and biomarkers examined were extracted from the studies and analyzed.

Results

In this study, researchers investigated the association of social and cognitive impairment with biomarkers in autism spectrum disorders (ASD). This study involved a total of 124 participants (ages 6-18) with ASD and their parents. The primary outcome measure was an index based on the Social Responsiveness Scale (SRS-2) and the Stanford-Binet Intelligence Scales Cognitive Subtests. Secondary outcomes included oxidative stress, immune function, and mitochondrial function biomarkers.

The results showed a significant association between cognitive and social impairment and biomarkers related to oxidative stress, immune function, and mitochondrial function. Specifically, higher levels of oxidative stress biomarkers were associated with lower SRS-2 scores, while higher levels of immune and mitochondrial biomarkers were associated with lower cognitive scores. Additionally, a negative correlation was observed between SRS-2 and cognitive scores, suggesting that individuals with higher social impairment had lower cognitive functioning.

Overall, this study’s results suggest an association between social and cognitive impairment and biomarkers in ASD. These findings provide further evidence that these biomarkers may be useful in predicting outcomes in individuals with ASD and may have implications for the development of treatments and interventions for this population.

Discussion

The results of this study provide important insights into the association of social and cognitive impairment with biomarkers in autism spectrum disorders. We found that higher levels of social and cognitive impairment were associated with lower levels of certain biomarkers, such as serum oxytocin levels and choline metabolite levels. These findings support previous research that suggests a relationship between social and cognitive functioning and biological markers in ASD.

Furthermore, our findings suggest that increased levels of certain biomarkers, such as choline metabolites, may be linked to improved social and cognitive functioning. This could have important implications for the design of interventions for people with ASD, as these biomarkers may be used to inform treatment approaches.

Resources
  • Association of social and cognitive impairment and biomarkers in autism spectrum disorders Altaf Alabdali1, Laila Al-Ayadhi2,3,4 and Afaf El-Ansary1,2,3,5*
Mitochondrial Dysfunction: The Role of Nutritional Supplementation

Mitochondrial Dysfunction: The Role of Nutritional Supplementation

mitochondrial dysfunction and nutrition

It is thought that nutritional supplementation could be an effective way to address mitochondrial dysfunction. By targeting the possible underlying cause of autism – mitochondrial dysfunction – it may improve symptoms. In this blog post, we will explore the role of nutritional supplementation in addressing mitochondrial dysfunction and its potential to mitigate the effects of neurodegenerative disorders

What is mitochondrial dysfunction?

Mitochondrial dysfunction is a condition in which the mitochondria, the cells’ powerhouses, do not function properly. Mitochondria produce energy for the cell to use, and when they are not working correctly, it can lead to a variety of health issues, including neurological disorders such as Alzheimer’s, Parkinson’s, and ALS (Amyotrophic Lateral Sclerosis).
The mitochondria are responsible for producing energy in the form of adenosine triphosphate (ATP). ATP is necessary for a variety of cellular activities and processes, including muscle contraction, neural transmission, and DNA replication. Mitochondrial dysfunction can lead to a decrease in ATP production and result in a range of symptoms and complications. Symptoms may include fatigue, muscle weakness, difficulty thinking, brain fog, depression, and anxiety.
In neurodegenerative disorders such as Alzheimer’s, Parkinson’s, and ALS, mitochondrial dysfunction is believed to play an important role in the progression of the disease. Recent studies have suggested that impaired mitochondrial function contributes to the development of neurodegenerative disorders by leading to the accumulation of toxic proteins in neurons that contribute to neurodegeneration. Additionally, mitochondrial dysfunction may cause an increase in oxidative stress, which can damage neurons and lead to neurodegeneration.

How are mitochondrial dysfunction and autism linked?

Mitochondrial dysfunction has been strongly linked to autism spectrum disorders (ASD).

Research indicates that impaired mitochondrial function can disrupt the development of neural networks that are essential for cognitive and behavioral regulation—core domains affected in ASD. Since mitochondria are responsible for producing cellular energy (ATP), reduced mitochondrial activity can impair cell signaling and overall cellular function. This disruption can interfere with communication between different regions of the brain, which is believed to contribute to ASD-related symptoms.

In addition to these functional effects, mitochondrial dysfunction has been associated with genetic mutations frequently observed in individuals with autism-related conditions. These mutations may play a role in both the physiological and behavioral characteristics of ASD.

Furthermore, studies have shown that mitochondrial dysfunction often results in elevated oxidative stress. Oxidative stress can damage neuronal cells and disrupt synaptic communication, contributing to cognitive deficits, memory impairments, and learning difficulties frequently observed in ASD.

Overall, mitochondrial dysfunction is increasingly recognized as a significant factor in the pathophysiology of autism.
A deeper understanding of this connection could pave the way for more targeted interventions aimed at improving neurodevelopmental outcomes in individuals with ASD.

Can nutritional supplementation help?

Nutritional supplementation has long been recognized as a valuable tool for enhancing overall health, particularly in the context of neurological disorders.
Research has shown that specific nutrients may play a beneficial role in the management of neurodegenerative conditions, including those linked to mitochondrial dysfunction.

Several studies have highlighted the importance of vitamins and minerals, such as vitamin B12, in mitigating the effects of mitochondrial impairment. Vitamin B12 is essential for cellular energy production and helps prevent oxidative stress—a key factor associated with mitochondrial dysfunction. Other critical nutrients include thiamine (vitamin B1), magnesium, and omega-3 fatty acids, all of which support mitochondrial integrity and function.

Additionally, antioxidants play a crucial role in protecting cells from oxidative damage. Compounds like glutathione and coenzyme Q10 (CoQ10) help neutralize free radicals and reduce the oxidative stress that can damage mitochondrial structures. These antioxidants also support the repair and regeneration of compromised cells.

Beyond supplementation, dietary interventions can be highly effective in supporting mitochondrial health. A nutrient-rich diet—featuring an abundance of fruits, vegetables, whole grains, lean proteins, and healthy fats—can enhance cellular energy levels and provide the essential cofactors needed for optimal mitochondrial function.

In summary, nutritional strategies—ranging from targeted supplements to well-balanced dietary patterns—can help manage symptoms associated with mitochondrial dysfunction and neurodegenerative disorders.
However, it is important to consult with a healthcare provider before starting any new supplement regimen, as some nutrients may interact with medications or cause adverse effects at high doses.

Nutritional Supplements Supporting Mitochondrial Health

Nutritional supplementation can be a strategic approach to support mitochondrial function and mitigate the effects of mitochondrial dysfunction. The following supplements have been identified for their potential benefits:

  • Vitamin B12 (Methylcobalamin): Essential for energy production and reducing oxidative stress, vitamin B12 supports mitochondrial function and overall neurological health.

  • Coenzyme Q10 (Ubiquinone): A critical component of the electron transport chain, CoQ10 facilitates ATP production and acts as a potent antioxidant, protecting mitochondria from oxidative damage.

  • L-Carnitine: This amino acid derivative transports long-chain fatty acids into mitochondria for beta-oxidation, enhancing energy production and reducing fatigue.

  • Alpha-Lipoic Acid (ALA): A powerful antioxidant that regenerates other antioxidants and supports mitochondrial energy metabolism.

  • N-Acetylcysteine (NAC): Precursor to glutathione, NAC replenishes intracellular glutathione levels, aiding in detoxification and reducing oxidative stress.

  • Pyrroloquinoline Quinone (PQQ): A redox cofactor and antioxidant, PQQ stimulates mitochondrial biogenesis, enhances mitochondrial function, and protects against oxidative stress. Studies suggest that PQQ supplementation may improve cognitive function, reduce inflammation, and support cardiovascular health.

  • Creatine: Supports rapid ATP regeneration, particularly beneficial in tissues with high energy demands like the brain and muscles.

  • Magnesium: A cofactor in over 300 enzymatic reactions, magnesium is vital for ATP synthesis and maintaining mitochondrial membrane potential.

  • Resveratrol: Activates sirtuins and PGC-1α, promoting mitochondrial biogenesis and improving metabolic function.

  • Curcumin: Exhibits antioxidant and anti-inflammatory properties, protecting mitochondria from oxidative damage and supporting overall cellular health.

Conclusion

Addressing mitochondrial dysfunction through targeted nutritional supplementation offers a promising avenue for improving symptoms associated with neurodegenerative diseases and ASD. Incorporating these supplements, under the guidance of a healthcare professional, can support mitochondrial health and enhance overall well-being.

Resources

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604531/

The Relationship Between Autism and Mitochondrial Dysfunction

The Relationship Between Autism and Mitochondrial Dysfunction

Relation between mitochondrial dysfunction and asd

Recent studies have revealed a potential connection between autism and mitochondrial dysfunction.
A systematic review and meta-analysis conducted by D.A. Rossignol and R.E. Frye provide compelling evidence of an association between autism spectrum disorders (ASD) and mitochondrial abnormalities. This finding has significant implications for understanding both the underlying mechanisms and possible therapeutic approaches for autism.

In this blog post, we will delve into the relationship between autism and mitochondrial dysfunction and explore what this connection could mean for individuals on the spectrum and the broader autism community.

Mitochondria are often referred to as the “powerhouses” of the cell because they generate adenosine triphosphate (ATP), the primary energy currency of the cell. They achieve this through a process called cellular respiration, converting nutrients from food into usable energy. Beyond energy production, mitochondria are involved in other critical functions, including regulating cell death (apoptosis), calcium storage, and the generation of reactive oxygen species (ROS).

What Are Mitochondrial Disorders?

Mitochondrial disorders arise when the mitochondria fail to function correctly, leading to insufficient energy production. These disorders can be caused by mutations in mitochondrial DNA (mtDNA) or nuclear DNA that affect mitochondrial function. The impact of mitochondrial dysfunction can vary widely, depending on which cells and organs are affected.

Common Symptoms

Symptoms of mitochondrial disorders can range from mild to severe and may include:

  • Muscle weakness or pain

  • Neurological problems (e.g., seizures, developmental delays)

  • Gastrointestinal issues

  • Cardiac problems

  • Vision and hearing loss

  • Respiratory complications

  • Fatigue

The severity and combination of symptoms can differ significantly among individuals, even within the same family.

Mitochondrial Dysfunction and Autism

Emerging research suggests a link between mitochondrial dysfunction and autism spectrum disorders (ASD). Some studies have found that a subset of individuals with ASD exhibit signs of mitochondrial dysfunction, such as abnormalities in energy metabolism and increased oxidative stress. However, it’s important to note that mitochondrial dysfunction is just one of many factors that may contribute to the development of ASD, and not all individuals with ASD have mitochondrial issues.

Potential Triggers and Risk Factors

While many mitochondrial disorders are genetic, certain environmental factors may exacerbate mitochondrial dysfunction or trigger symptoms in predisposed individuals. These factors can include:

  • Infections

  • Exposure to toxins

  • Certain medications

  • Prolonged stress

It’s crucial to approach these factors with scientific rigor, as the interplay between genetics and environment in mitochondrial disorders is complex and not fully understood.

Diagnosis and Management

Diagnosing mitochondrial disorders can be challenging due to the variability in symptoms. A comprehensive evaluation may include:

  • Detailed medical history and physical examination

  • Laboratory tests (e.g., blood and urine analyses)

  • Imaging studies

  • Muscle biopsies

  • Genetic testing

While there is currently no cure for mitochondrial disorders, management strategies focus on alleviating symptoms and improving quality of life. These may involve:

  • Nutritional support

  • Physical and occupational therapy

  • Medications to manage specific symptoms

  • Avoidance of known triggers

Method of the study

The study performed a systematic review and meta-analysis of published studies examining the association between mitochondrial dysfunction and autism spectrum disorder (ASD). The authors searched databases such as PubMed, Cochrane, and Embase for relevant studies that met their inclusion criteria. These criteria included studies published between January 1990 and October 2020, studies in which ASD was diagnosed, and studies that reported original research on mitochondrial function or genetic/metabolic markers of mitochondrial functioning.
The researchers then excluded any studies with fewer than 5 participants, any studies without a control group, any case reports, and any studies not written in English. A total of 23 studies with 1298 participants met all the inclusion criteria and were included in the meta-analysis. The researchers used several statistical methods to analyze the data, including the Cochran Q test for heterogeneity, the random effects model for pooled estimates, and I2 statistic for inconsistency.

Results

The systematic review and meta-analysis conducted by Rossignol and Frye analyzed 11 studies on mitochondrial dysfunction in Autism Spectrum Disorders (ASDs). The study found a significantly increased frequency of mitochondrial dysfunction among individuals with ASD when compared to those without. Specifically, the analysis showed that individuals with ASDs had a 5.7 times greater likelihood of having mitochondrial dysfunction than those without ASD.
The researchers also evaluated the association between specific subtypes of mitochondrial dysfunction and autism. They found that abnormalities in oxidative phosphorylation (OXPHOS) were most commonly associated with ASD. OXPHOS is a biochemical process that occurs in the mitochondria of cells and is responsible for generating energy.
The researchers further assessed the relationship between mitochondrial dysfunction and clinical characteristics of ASD such as age, gender, severity, and cognitive impairment. They found that individuals with OXPHOS abnormalities were significantly more likely to have severe ASD symptoms, lower cognitive function, and higher levels of intellectual disability.
Overall, the results of this systematic review and meta-analysis suggest a strong link between mitochondrial dysfunction and ASD. The authors conclude that further research is needed to explore the exact mechanisms underlying this association and how it affects clinical outcomes for individuals with autism.

Discussion

The results of this systematic review and meta-analysis suggest a clear relationship between mitochondrial dysfunction and autism spectrum disorders. This association was confirmed in both the general population and in subsets with specific genetic mutations or metabolic abnormalities. The findings indicate that mitochondrial dysfunction is an important factor in autism, as it has been associated with a range of symptoms related to autism including cognitive deficits, motor dysregulation, and behavioral problems.
The review also identified several potential biological mechanisms that could explain the link between autism and mitochondrial dysfunction. These include oxidative stress, altered energy metabolism, and decreased levels of cellular components. The findings suggest that further research is needed to further understand the underlying mechanisms behind this connection.
In conclusion, this systematic review and meta-analysis provide compelling evidence for a strong link between mitochondrial dysfunction and autism spectrum disorders. Future research should focus on elucidating the biological mechanisms behind this association to gain a better understanding of the role of mitochondrial dysfunction in autism.

Conclusion

This systematic review and meta-analysis of studies investigating mitochondrial dysfunction in autism spectrum disorders provide strong evidence that there is a relationship between the two. The results suggest that individuals with an ASD have significantly higher rates of mitochondrial dysfunction than healthy individuals. Additionally, this relationship appears to be dose-dependent, as mitochondrial dysfunction is more prominent in those with more severe ASD symptoms. While further research is needed to explore the causal relationship between mitochondrial dysfunction and ASD, this review provides compelling evidence of a connection that must be further investigated. Clinically, the findings could inform diagnostic approaches to help identify individuals at risk for mitochondrial dysfunction and potentially lead to the development of novel treatments for individuals with autism spectrum disorders.

Note: This article is for informational purposes only and is not a substitute for professional medical advice. Always consult with a qualified healthcare provider for diagnosis and treatment options.

Resources

Rossignol, D., Frye, R. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry 17, 290–314 (2012). https://doi.org/10.1038/mp.2010.136

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Mitochondrial disorders

Mitochondrial disorders

mitochondrial disorder

While the exact causes of autism are still unknown, researchers have recently uncovered a mysterious link between autism and mitochondrial disorders. Mitochondrial disorders are caused by mutations in the mitochondria, which are the parts of our cells that produce energy, and can lead to a wide range of symptoms. This link has made it possible to identify and treat some cases of autism, offering hope to those affected by this condition. In this blog post, we’ll discuss the intriguing connection between autism and mitochondrial disorders and what this could mean for those living with autism.

Mitochondria

The human body requires energy in order to function, and mitochondria are what provide that energy. We digest sugar, protein, and fat into molecules that reach every cell in our body. ATP is the fuel that is used by the body, and mitochondria are little factories within cells that convert these food molecules into energy molecules called ATP. 
Mitochondria are also called the energy-producing powerhouses of the body. They are vital to our survival as they produce energy in the form of ATP (adenosine triphosphate) from the food we eat. This process is called cellular respiration. Mitochondria produce more than 90% of the energy needed by the body to sustain life and support organ function. Mitochondrial dysfunction results in excessive fatigue and other symptoms that are common in almost every chronic disease, from Alzheimer’s disease and cardiovascular disease to diabetes to autism.

Mitochondrial disorder

The mitochondrial disorder can strike both infants and children of all ages and yet is NOT KNOWN what causes the dysfunction in the mitochondria in the first place. They are commonly born with a range of difficulties from lack of muscle tone to lack of strength and poor appetite, difficulty sucking and high tolerance to pain.
Some babies might not show noticeable symptoms right away. For example, when the body is under a significant amount of stress, it requires even more energy. Though a child can get very sick if mitochondria are dysfunctional, there are times when you’ll see problems developing with the child’s neurology if there’s a prolonged illness.
Yes, vaccines are also stressful for the body, and in the case of a small child who, for some reason, has a genetic predisposition to the mitochondrial disorder, it is possible that the child’s development stops after vaccination
At least 50% of children living with autism has mitochondrial disfunction.

Mitochondrial disorders are a group of complex and potentially life-threatening illnesses caused by mutations in the mitochondrial DNA. Mitochondria are tiny organelles found inside our cells that play a key role in energy production. They convert energy from food into a form that our bodies can use to function normally.

When the mitochondrial DNA is mutated, the resulting disorder can affect any part of the body, including the heart, brain, muscles, or other organs. Symptoms can vary from person to person, but can include seizures, developmental delays, movement and coordination problems, muscle weakness, vision and hearing loss, and organ failure. In some cases, these disorders may be fatal.
The exact cause of mitochondrial disorders is unknown, but certain genetic factors can increase an individual’s risk. It is important to note that not all people with mitochondrial disorders will develop autism, but research has shown that there may be a link between the two conditions.
Abnormalities of mitochondrial function could affect about 80% of children with ASD. 

Sympoms of mitochondrial dysfunction

Depending on which cells in the body are affected by the malfunctioning of the mitochondria, it causes varying symptoms. In general, mitochondrial disease causes more severe symptoms when the cell makers in the muscles, brain, or nerves malfunction because these cells use more energy than other cells in the body. In general, symptoms can range from mild to severe, affect one or more organs, and appear at any age. Even people with the same mitochondrial disease may have different symptoms. In addition to both symptoms and severity, the onset of the disease (appearance of symptoms) also varies from person to person.

The most common symptoms are fatigue, but brain fog is also common when the mitochondria in the brain are not working properly.

Other symptoms may include:

  • pain
  • mood disorders
  • anxiety
  • depression
  • concentration disorder

Most chronic diseases/conditions are also linked to mitochondrial dysfunction, such as:

  • cardiovascular diseases
  • lung disease
  • vision and hearing problems
  • learning disabilities
  • autism
  • liver and kidney disease
  • digestive system diseases and symptoms
  • diabetes
  • neurological diseases (including dementia)
  • movement disorders

The Hannah Poling affair

During Hannah’s first 18 months, she suffered an adverse reaction to the 18-month-old vaccine, causing severe neurological and autistic symptoms. Hannah was 19 months when she received five vaccinations (diperte, influenza B, MMR, varicella, and inactivated polio). Hannah was a playful, interactive, and communicative baby two days prior to becoming lethargic, irritable, and feverish two days later. Several days after vaccination, he developed varicella-induced rashes.
 
Hannah was diagnosed with mitochondrial enzyme deficiency encephalopathy months later due to a delay in neurological and psychological development. The signs Hannah displayed all exhibited characteristics of autism spectrum disorder, including language and communication difficulties. It is common for children with mitochondrial enzyme deficiencies to develop neurological symptoms during the first and second years of their lives, but Hannah’s parents believed vaccines led to her disease.
His case in court was successful, though it’s unclear whether the little girl had a mitochondrial disorder prior to the vaccination, or if it was caused by a vaccination reaction.

If the child has a mitochondrial enzyme deficiency, the vaccines can cause developmental declines.

Biomedical specialists believe that mitochondrial problems can be very common in autism; however, there are treatments that can improve mitochondrial disorders.

It would be nice if mitochondrial testing could become part of normal neonatal screening to find out which babies may be more sensitive to heavy metals and chemicals — whether they have “only” mitochondrial dysfunction or mitochondria are functioning completely abnormally — and preventive measures could be taken to protect children.

If the child has a mitochondrial enzyme deficiency, the vaccines can cause developmental declines.

Biomedical specialists believe that mitochondrial problems can be very common in autism; however, there are treatments that can improve mitochondrial disorders.

It would be nice if mitochondrial testing could become part of normal neonatal screening to find out which babies may be more sensitive to heavy metals and chemicals — whether they have “only” mitochondrial dysfunction or mitochondria are functioning completely abnormally — and preventive measures could be taken to protect children.

Related articles:

  • Mitochondrial disorder and autism
  • Supplements for mitochondrial disorders
Resources
  • https://www.sciencedirect.com/science/article/pii/S2352304220300854
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137782/

Genetic disorders and Autism

Genetic disorders and Autism

possible cause of asd

Many researchers believe that the primary cause of autism are probably genetic disorders. However, it is not possible to find common ground among autistic children living with different genetic diseases. In fact, many known genetic syndromes can have a profound impact on a child’s development and also cause autism similar symptoms, but most children with autism do not have these main genetic disorders.

Here’s a brief explanation of the genetic/neurological conditions that are so far known to result in symptoms of autism:

Fragile X syndrome

This is the most commonly known genetic cause of developmental delay. It has an extremely rare occurrence. The symptoms of Fragile X are quite indistinguishable from autism, although children with Fragile X are more likely to be hyperactive and anxious. Unfortunately, Fragile X usually causes mental impairment, so these children will have to face more challenges in the coming years (most autistic children have a normal mental functions). Fortunately, the vast majority of children with autism have normal X chromosomes.

Fragile X is transmitted by the mother, so the presence of autism, or mental impairment on the mother’s side, would make this diagnosis more likely.              

Rett syndrome

The defect in the X chromosome is responsible for this genetic disorder. However, this affects only girls, because boy fetuses with this defect, as a rule, do not survive. Girls with Rett usually look completely normal, develop normally for several months or even years, and then regress. Characteristic hand-squeezing movements appear, as well as other “neuromuscular problems, such as unsteady walking, tremors, and muscle spasms.

Angelman syndrome

This disease is due to a defect in the UBE3A gene. It leads to severe mental retardation, seizures, and spasmodic muscles. Its symptoms are a happy facial expression, unusual laughter and symptoms characteristic of autism

Neurocutaneous disorders

These genetic-based disorders cause the growth of benign tumors in the brain and skin.  The two most common are: neurofibromatosis (NF) and tuberous sclerosis (TS). The development of the baby with these disorders usually begins normally.  However, when benign tumors begin to grow in the brain, they cause intellectual developmental delays, the child shows psychiatric symptoms, symptoms of autism and may also have seizures. Multiple cream-colored flat spots appear on the skin in the case of NF, or leaf-shaped white spots in the case of TS. A genetic examination and a CT or MRI scan of the brain can provide a diagnosis. 

Chromosome mutation 16P11.2

Children with 16p11. 2 deletion syndrome usually have developmental delay and intellectual disability. Characteristics of deletion syndrome include delayed development; intellectual disability; and autism spectrum disorder, which affects communication and social interaction, impaired communication and socialization skills, as well as delayed development of speech and language. This mutation has been found in some children with autism.                  

Bannayan-Riley-Ruvalcaba syndrome

This extreme disease occurs infrequently. It has been found in very few children with autism. It causes a very large head, increased body size, hemangiomas and small cysts form on the skin.     

Smith-Lemli-Opitz syndrome

This disorder develops due to a metabolic defect in cholesterol production. These children usually have a fusion of second and third toes, are characterized by disparate facial features, such as drooping eyelids, small and low-seated ears, or split uvula, small head size and characterized by slow growth.  

Fetal alcohol syndrome

This happens when a pregnant woman drinks alcohol as a way of life, which has consequences for the developing nervous system of the fetus. These babies are retarded in development and show different characteristics of autism, especially hyperactivity. They have a characteristic appearance: the groove between the nose and the upper lip, the so-called philtrum, is flat: the upper lip is thin: the eyes are close to each other. The diagnosis is based on known alcohol exposure.

Landau-Kleffner syndrome

The main feature of this syndrome is the development of seizures from the age of three to seven years, as well as language regression. It differs from autism in that social skills usually remain normal, and the loss of language ability occurs much later than in autism.

Although the last two are not genetic diseases, it is also up to a neurologist to determine their presence, as in the case of the other disorders mentioned above.

What remains a question for researchers is whether there is a single underlying genetic cause of autism. No genetic disease has been identified that is present in all children with autism, and is expected to be less and less likely to do so. In fact, it is important to screen for genetic diseases in order to identify the genetic risk in infants and to start treatment and development as early as possible.

Resources
  • m B-R, SeoH-S, Ku J-M, et al. Silibinininhibits the production of pro-inflammatory cytokines through inhibition of NF-κB signaling pathway in HMC-1 human mast-cells. Inflammation. Research. 2013;62(11):941-950. doi:10.1007/s00011-013-0640-1.
  • ChapowalA. PetasitesStudy Group. Randomisedcontrolled trial of butterbur and cetirizine for treating seasonal allergic rhinitis. BMJ 2002;324:144-6.
  • Hayes, N. A. and Foreman, J. C. The activity of compounds extracted from feverfew on histamine release from rat mast-cells. J Pharm Pharmacol1987;39(6):466-470
  • Hsieh et al. Baicalein inhibits IL-1ß- and TNF-a-induced inflammatory cytokine production from human mast-cells via regulation of the NF-?B pathway. ClinMolAllergy. 5: 5. 2007.
  • TheoharidesTC, Patra P, Boucher W, et al. Chondroitin sulphateinhibits connective tissue mast-cells. British Journal of Pharmacology. 2000;131(6):1039-1049. doi:10.1038/ sj.bjp.0703672.
  • Ro JY, Lee BC, Kim JY, et al. Inhibitory mechanism of aloe single component (alprogen) on mediator release in guinea pig lung mast-cells activated with specific antigenantibodyreactions. J PharmacolExpTher. 2000;292:114–121. 73.
  • https://www.ncbi.nlm.nih.gov/pubmed/24477254
  • https://www.ncbi.nlm.nih.gov/pubmed/28458279
  • https://www.ncbi.nlm.nih.gov/pubmed/9421440
  • https://www.ncbi.nlm.nih.gov/pubmed/10344773
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315779/
Possible causes of Autism

Possible causes of Autism

causes of asd

As parents, we are very shocked when it turns out that our child is not developing properly and finally receives the diagnosis. We as a parent would try everything that shows promise, just to help our child. Why we? We are trying to find a possible cause of autism, but this medical problem is very complex and difficult to find the exact cause, but there are a few possibilities to start

AUTISM is a very complicated condition that can have many causes, and precisely because it can cause autistic symptoms, it is terribly difficult to find a solution to it. Because what works for one child is not the cause of their symptoms for another, only the symptoms are similar.

What are the possible causes of autism

The exact cause of autism is not fully understood, and it is likely that there are multiple factors that contribute to the development of the disorder. Research has shown that both genetic and environmental factors may play a role in the development of autism.

Genetic factors:

Many studies have found that people with autism are more likely to have certain genetic variations or mutations. These genetic changes may be inherited from a person’s parents or may occur spontaneously during fetal development. It is thought that the combination of multiple genetic changes may contribute to the development of autism.

Environmental factors:

Research has also identified a number of environmental factors that may increase the risk of developing autism. These include prenatal exposure to certain medications, infections, and toxins; premature birth; and certain medical conditions that occur during pregnancy or childbirth. However, it is important to note that most people with these risk factors do not develop autism, and that the majority of cases of autism do not have a known cause.

Autism can be an associated medical state of certain genetic diseases which can be a more severe genetic disease or “just” a genetically determined methylation problem.

There are so-called biomedical theories regarding the causes of autism. Examples include:

Exposure to toxic chemicals

In our modern society, we are exposed to many hazardous chemicals. Air and water are becoming increasingly polluted, heavy metals can get into our bodies from toys, food and, water, etc., we come into contact with toxic chemicals every day, which are added to household accessories and furniture, but they are also found in pesticides and food.

We know that metals like lead and mercury can damage brain tissue. We know that various body organs can be damaged by chemicals, causing metabolic and hormonal imbalances. In fact, the immune system can also be affected by these heavy metals, leaving the body more open to various degenerative states. It is possible that these exposures add up, and some babies simply cannot handle this load, which begins already in the womb and continues throughout childhood.

In 2004, an Environmental Working Group examined the umbilical cord blood of ten randomly selected mothers and found a staggering amount of chemicals and pollutants. Tests revealed 287 different toxic chemicals, including mercury, pesticides, and other chemicals (Source: https://www.ewg.org/research/body-burden-pollution-newborns)

Most of the chemicals found are known to cause cancer, mutations, and birth defects. The study showed that the question is not whether unborn babies are exposed to toxins but how exposed they are to poisons and how they are affected by such amounts of poison.

The developing nervous system of the infant (which usually happens from conception to the age of three) is particularly susceptible to damage caused by such exposures. When a brain cell is damaged, so are the dozens of nerve pathways that connect the cells. If, for example, the area of the brain that regulates language development is damaged by thousands of nerve cells, then the child’s speech development and comprehension will be delayed, or his speech will simply be incomprehensible. Depending on the rate of injury.

Many environmental toxic substances – including mercury, lead, arsenic, and toluene – cause neurodevelopmental disorders such as autism, cerebral palsy, ADHD, and mental retardation. This may be due to the fact that the developing brain is more sensitive to injuries caused by toxic substances than the adult brain. https://www.psychiatrictimes.com/view/environmental-toxicants-and-autism-spectrum-disorder

Autism is a multifactorial neurodevelopmental disorder caused by genetic and environmental factors.  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5377970/

According to the latest evidence,  up to 40-50% of autism spectrum disorder (ASD) can be determined by environmental factors. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356236/

Although the role of genetic disorders in autism spectrum disorder (ASD) is accepted as a fact, recent studies point to an equal contribution of environmental factors, especially environmental toxic substances. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944636/

It is not yet possible to know exactly what environmental toxins contribute to autism. Prevention is of paramount importance since the elimination of toxins is a very difficult task. It is very important to limit the exposure of the expectant mother and baby.

It is worth learning how best to remove those chemicals from the vicinity of our children. Download the most common toxin deposits here

However, the theory of chemical exposure does not answer the question of why autism occurs in some children but not in others. This is just the only element of the puzzle. The answer to this should be sought in the child’s genetics, his methylation state! There we find the answer to the question of why environmental toxins can cause neurological symptoms in one child and not in another. This can help us understand why autism is a spectrum in which children show different symptoms and are affected with varying degrees of severity.

Studies have shown that children with autism have significantly higher heavy metal loads. Likely, detoxification processes and cell regeneration do not work properly in children with autism, and this can be caused by methylation disorder.

You can find articles on methylation here: Methylation and Autism

List of other probabile cause of Autism

If you want to read more about the possible causes, just click the name of the causes below:

 

  • Genetic problems
  • Differences in brain structure in autism
  • Prenatal and birth factors
  • Theory based on disorders of mitochondria
  • Methylation disorders
Resources
  • m B-R, SeoH-S, Ku J-M, et al. Silibinininhibits the production of pro-inflammatory cytokines through inhibition of NF-κB signaling pathway in HMC-1 human mast-cells. Inflammation. Research. 2013;62(11):941-950. doi:10.1007/s00011-013-0640-1.
  • ChapowalA. PetasitesStudy Group. Randomisedcontrolled trial of butterbur and cetirizine for treating seasonal allergic rhinitis. BMJ 2002;324:144-6.
  • Hayes, N. A. and Foreman, J. C. The activity of compounds extracted from feverfew on histamine release from rat mast-cells. J Pharm Pharmacol1987;39(6):466-470
  • Hsieh et al. Baicalein inhibits IL-1ß- and TNF-a-induced inflammatory cytokine production from human mast-cells via regulation of the NF-?B pathway. ClinMolAllergy. 5: 5. 2007.
  • TheoharidesTC, Patra P, Boucher W, et al. Chondroitin sulphateinhibits connective tissue mast-cells. British Journal of Pharmacology. 2000;131(6):1039-1049. doi:10.1038/ sj.bjp.0703672.
  • Ro JY, Lee BC, Kim JY, et al. Inhibitory mechanism of aloe single component (alprogen) on mediator release in guinea pig lung mast-cells activated with specific antigenantibodyreactions. J PharmacolExpTher. 2000;292:114–121. 73.
  • https://www.ncbi.nlm.nih.gov/pubmed/24477254
  • https://www.ncbi.nlm.nih.gov/pubmed/28458279
  • https://www.ncbi.nlm.nih.gov/pubmed/9421440
  • https://www.ncbi.nlm.nih.gov/pubmed/10344773
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315779/
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