Unraveling the Genetic puzzle: MTRR Mutation and Autism Spectrum Disorder

Unraveling the Genetic puzzle: MTRR Mutation and Autism Spectrum Disorder

MTRR and autism link

Autism Spectrum Disorder (ASD) presents as a complex neurodevelopmental challenge impacting countless lives globally. While its roots remain enigmatic, genetic facets emerge as pivotal contributors. Within this intricate genetic panorama, the MTRR gene mutation emerges as a potential piece in autism’s intricate puzzle.

This article navigates the connection between MTRR mutations and autism, venturing into genetics’ profound influence on neurodevelopment.

Decoding MTRR's Methylation Role

MTRR—5-methyltetrahydrofolate-homocysteine methyltransferase reductase—resides at the core of the folate-methionine cycle. This pathway oversees homocysteine levels, nourishing DNA synthesis and methylation reactions. Methylation, an epigenetic feat, grafts methyl groups onto DNA, steering gene expression sans genetic alteration. Hence, MTRR orchestrates DNA methylation patterns, pivotal for regular neurodevelopment and cerebral function.

The Nexus: MTRR Mutation and Autism

Recent insights highlight the intertwinement of MTRR gene mutations and autism risk. Specific MTRR gene deviations can stifle functionality, upending the folate-methionine cycle and perturbing DNA methylation. Autism-affected individuals often bear distinct MTRR mutations or perturbations in gene expression.

Neurodevelopment's Impacted Canvas

MTRR’s discordance casts far-reaching shadows over neurodevelopment. Methylation rules supreme during cerebral maturation, guiding genes entwined with synaptic plasticity, neural interconnectivity, and neurotransmitter modulation. Any DNA methylation disruption, courtesy of MTRR mutations, may forge altered cerebral development, potentially fostering autism-linked manifestations.

Symphony of Genes and Environment

Autism’s orchestration involves more than genetics. Genetic susceptibility dances with environmental influences, crafting ASD’s multifaceted tale. Prenatal nutrition, toxin exposure, and maternal well-being partner with genetic glitches, like MTRR variations, possibly amplifying or alleviating autism risk’s impact.

Diagnostic and Therapeutic Horizons

The burgeoning MTRR-autism liaison unfurls avenues for diagnosis and treatment. MTRR variant genetic assays can illumine autism predisposition. Swift identification promises tailored interventions, optimizing neurodevelopmental trajectories for those impacted.

Moreover, comprehending MTRR’s DNA methylation and neurodevelopmental involvement charts the course for targeted therapies. Explorations into recalibrating DNA methylation patterns hold the potential to mitigate MTRR mutation’s impact on autism-linked symptoms.

The Odyssey Ahead: Challenges and Prospects

Promising as it is, the MTRR-autism connection confronts hurdles. Autism’s genetic framework is intricate, an ensemble of genes and interactions. The MTRR-autism interplay bows to a medley of genetic, epigenetic, and environmental nuances.

As science’s quest to decipher autism progresses, resolute inquiry and open thought are vital. Geneticists, neuroscientists, and clinicians’ synergy propels autism comprehension, translating revelations into real benefits for individuals and families.

Conclusion

MTRR mutation’s exploration alongside autism brims with promise, an expedition into uncharted autism dimensions. It accentuates the confluence of genetics, epigenetics, and neurodevelopment, enlightening the labyrinthine nature of this neurodevelopmental enigma. Our march towards enlightenment inches us closer to plumbing autism’s genetic depths and potential interventions, promising solace to those traversing this intricate journey.

Unraveling the Genetics of Autism: The Epigenetic Connection

Unraveling the Genetics of Autism: The Epigenetic Connection

MTHFR and autism

Autism Spectrum Disorder (ASD) remains a complex and enigmatic condition that has intrigued researchers for decades. Understanding the genetic basis of autism is crucial for advancing our knowledge and developing effective treatments. In this article, we delve into a groundbreaking study conducted over five years ago, which shed light on the connection between a specific gene involved in epigenetics and autism.

As we embark on this journey, it’s important to bear in mind that scientific research is continually evolving, and findings from older studies may have been reevaluated since their original publication.

The Epigenetic Link: MTHFR and Autism

In November, a study published in The Journal of Autism and Developmental Disorders revealed intriguing insights into the genetic landscape of autism. The focus was on the gene MTHFR, which plays a crucial role in methylation – an essential epigenetic mechanism that can modify gene expression without altering the DNA sequence.

Epigenetics is a fascinating field that has illuminated how environmental factors can interact with genetics, influencing an individual’s health and development. Methylation involves the addition of methyl groups to DNA, affecting how genes are expressed and regulated. The researchers observed that individuals with autism from simplex families, where only one child is affected, showed a significant association with variants of the MTHFR gene that reduce its enzymatic activity.

MTHFR Variants and Autism Risk

The study revealed two specific variants of the MTHFR gene – 677T and 1298A – as being more prevalent in individuals with autism. These variants each represent a single DNA base change, and carriers of one or both of these variants were more likely to have autism. The significance of this association was observed exclusively in simplex families, whereas multiplex families, with more than one child affected by autism, did not exhibit the same correlation.

Distinguishing Simplex and Multiplex Families

The differentiation between simplex and multiplex families is critical in understanding the genetic factors that contribute to autism risk. Simplex families have a single child affected by autism, and the observed association with MTHFR variants suggests a potential link between these variants and the risk of developing autism in such cases. On the other hand, multiplex families, while showing a higher frequency of inherited autism-linked mutations, did not exhibit the same MTHFR association.

Epigenetics and Autism Risk Heterogeneity

One of the most intriguing aspects of this study is how epigenetics can account for the varying levels of autism risk among individuals with a similar genetic background. Epigenetic mechanisms, like methylation, can create diverse phenotypes from identical genotypes, providing valuable insights into the complexities of autism etiology. Experiments in mice lacking proteins that bind to methyl groups have even exhibited autism-like symptoms, further supporting the role of epigenetics in autism.

Unraveling the Puzzle

This study opened up exciting avenues for further research into the interplay between genetics, epigenetics, and autism risk. Subsequent investigations have likely built upon these findings, aiming to validate and extend the understanding of the MTHFR gene’s role in autism. Scientists have been exploring changes in methylation patterns in individuals with autism compared to neurotypical controls to unravel the intricacies of epigenetic regulation in this disorder.

Conclusion

Autism research has come a long way in the past five years, and this study’s findings marked a significant milestone in understanding the genetic and epigenetic factors contributing to autism risk. As we reflect on this research, it is essential to remember that the scientific landscape is ever-evolving, and new discoveries are continuously shaping our understanding of autism spectrum disorder.

By combining knowledge from both older and more recent studies, we move closer to unlocking the mysteries of autism, ultimately leading to improved diagnosis, treatment, and support for individuals and families affected by this condition.

Resources

1. PubMed (https://pubmed.ncbi.nlm.nih.gov/): A comprehensive database of scientific literature primarily focused on medical and life sciences research.
2. Google Scholar (https://scholar.google.com/): A freely accessible search engine that indexes scholarly articles, theses, books, and conference papers across various disciplines.
3. ScienceDirect (https://www.sciencedirect.com/): A platform providing access to a vast collection of scientific articles and journals covering multiple subject areas.
4. Wiley Online Library (https://onlinelibrary.wiley.com/): A collection of scientific and scholarly articles from Wiley publications.
5. SpringerLink (https://link.springer.com/): A platform offering access to scientific journals, books, and conference proceedings published by Springer.

Language Processing Disorder: When Words Don’t Make Sense

Language Processing Disorder: When Words Don’t Make Sense

LPD

Language Processing Disorder (LPD) is a communication disorder that affects a person’s ability to comprehend and use language. It is also known as Central Auditory Processing Disorder (CAPD) and affects both children and adults. People with LPD have difficulty understanding and producing language. They often find it difficult to follow instructions, interpret what others are saying, or express themselves using language. In this blog post, we will explore the symptoms, causes, and treatment of Language Processing Disorder.

What is Language Processing Disorder?

Language Processing Disorder (LPD) is a communication disorder characterized by difficulty understanding and using spoken and written language. It can affect all areas of communication including listening, speaking, reading, and writing. People with LPD have trouble comprehending spoken language and interpreting what is said or written. They may have difficulty formulating responses, organizing their thoughts, and understanding figurative language such as idioms or metaphors. This disorder is often seen in individuals with autism or other developmental disorders. In general, people with LPD are very literal and interpret language in its most basic form.

Symptoms of LPD

Symptoms of LPD may include difficulty understanding spoken language, difficulty expressing oneself through spoken or written language, and difficulty with reading comprehension. Some individuals with LPD may also have difficulty with language-related tasks, such as following directions or answering questions.

LPD is often associated with other conditions, such as autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD). It is important to note that LPD is not a stand-alone diagnosis, and a thorough evaluation by a healthcare professional is typically needed to determine whether an individual has LPD and to develop an appropriate treatment plan. Treatment may include speech therapy or other interventions to improve language skills and communication.

Causes of LPD

The exact cause of Language Processing Disorder (LPD) is unknown. It is believed to be the result of a combination of genetic and environmental factors. Research suggests that LPD may be hereditary, as it can run in families. Additionally, certain types of hearing problems can make it more difficult for individuals to process language, which may lead to LPD.

Some studies have found an association between autism spectrum disorder (ASD) and language processing difficulties. People with ASD may have difficulty understanding language in all its forms, including non-verbal communication, such as body language and facial expressions. They may also have difficulty interpreting subtle nuances in language, such as sarcasm or jokes. This can make it difficult for them to understand conversations and learn new words.

Overall, the exact cause of LPD remains unknown, but it is likely due to a combination of genetic, environmental, and/or neurological factors.

Diagnosing LPD

Language Processing Disorder (LPD) can be difficult to diagnose. It is often misdiagnosed as a learning disability or Attention Deficit Hyperactivity Disorder (ADHD). In order to accurately diagnose LPD, a comprehensive assessment must be conducted by an experienced professional.

The assessment should include assessments of language comprehension, expression, and cognitive abilities. Additionally, it is important to gather information from multiple sources such as parents, teachers, and other individuals familiar with the individual in question. This will provide the most comprehensive picture of the individual’s language processing abilities.

The professional conducting the assessment should also review any past medical records that may be available. This will help them determine if there are any other conditions that could be contributing to the difficulties with language processing.

Once the assessment is complete, the results can then be used to determine if the individual meets the criteria for a diagnosis of LPD. If they do meet the criteria, then the next step would be to create an individualized treatment plan. The treatment plan should focus on identifying strategies and accommodations that will help the individual better understand and process language.

Therapy of language processing disorder

When it comes to treating Language Processing Disorder, there are several options available. The type of treatment chosen will depend on the severity of the disorder and the individual’s age, health history, and lifestyle.

For younger children, speech-language therapy is often recommended to improve communication skills. Therapy may focus on areas such as grammar, word choice, and articulation. It may also include activities like listening to stories, playing games, and practicing conversations. This can help the child to better understand language and improve their ability to express themselves.

For older children and adults, cognitive behavioral therapy (CBT) may be recommended. CBT can help individuals recognize their thought patterns and challenge distorted beliefs about their language abilities. This can provide them with coping strategies to manage their condition. Additionally, medications may be prescribed to manage symptoms like anxiety or depression that can accompany LPD.

Finally, there are some strategies that individuals can use at home to manage their LPD. This includes developing good study habits, using visual aids and diagrams to support understanding, and using mnemonic devices to help remember information. With a combination of professional treatment and these strategies, individuals with LPD can make significant improvements in their language processing abilities.

Therapy options

  1. Speech therapy: Speech therapy can help individuals with LPD improve their language skills and develop strategies for managing language-related challenges.
  2. Occupational therapy: Occupational therapy can help individuals with LPD improve their ability to process and respond appropriately to sensory stimuli, which may be related to their language processing challenges.
  3. Cognitive behavioral therapy (CBT): CBT is a type of therapy that helps individuals with LPD develop coping strategies and change negative thought patterns that may be contributing to their challenges.
  4. Medications: In some cases, medications may be used to help manage specific symptoms of LPD, such as anxiety or hyperactivity.
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/
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*
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/