Landau-Kleffner Syndrome and Autism

From NORD (National Organization for Rare Disorders):
- Landau Kleffner syndrome (LKS) is a rare childhood disorder characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
- symptoms typically begin between the ages of three and seven years although the condition may rarely occur in children as young as 18 months of age.
- A significant minority of children with LKS also develops serious behavioral dysfunction, including hyperactivity, temper outbursts, or withdrawn behaviors but rarely the severe social impairments seen in autism spectrum disorders.
- The cause of Landau-Kleffner syndrome is unknown although a spectrum of epileptic conditions including LKS has been described in individuals with GRIN2A gene mutations and other candidate genes including RELN, BSN, EPHB2 and NID2 have been suggested.
- The response in some patients to immunosuppression has raised the question of autoimmune and other inflammatory mechanisms as potential contributors.
- In additional to language regression, the diagnosis requires the presence of severely epileptiform activity on EEG, particularly during non-REM sleep. Additional testing may include magnetoencephalography. Brain imaging with magnetic resonance imaging (MRI) is recommended to exclude structural lesions since several cases have resulted from brain tumors. Other testing including behavioral and/or brainstem evoked audiometry and standardized psychometric and speech/language testing are helpful to exclude hearing loss and provide the basis for therapies to aide in recovery.
- The standard therapeutic approach begins with antiepileptic drugs, particularly “spike-suppressing” medications such as divalproex, ethosuximide, levitiracetam, and benzodiazepines. Some authors have suggested using a combination of corticosteroids and pulse benzodiazepines. Other antiepileptic drugs that may be beneficial are lamotrigine and felbamate.
- When antiepileptic drugs are ineffective, other approaches include the ketogenic diet or treatment with intravenous immunoglobulin. Calcium-channel blocking drugs may also be beneficial. A neurosurgical procedure called multiple subpial transection (MST) has been used in some centers for children who fail to improve linguistically within two years and for those who develop steroid dependency or toxicity.

From Child Neurology Foundation:
- Symptoms include Verbal Agnosia (difficulty repeating words, reading, writing), Auditory Agnosia (unable to understand or recognize sounds), and seizures (about 75% of children with LKS will have at least one seizure), abnormal EEG (findings may include electrical status epilepticus in sleep (ESES)), hypersensitivity to sounds, behavior problems (attention and inhibition problems, hyperactivity, aggressive behaviors, social withdrawal), and psychiatric problems (anxiety, depression, problems controlling emotions).
- Treatments include steroids (can improve EEG findings, language problems, behavior problems), benzodiazepines (can improve EEG and language problems), IVIG, anti-seizure medication, SSRIs (can help with anxiety and behavior issues), speech therapy, and educational intervention.
- The severity of language problems can vary for people with LKS. Some children may regain full function of their language skills with treatment (over months to years). Others may not.

Basic information about Landau-Kleffner Syndrome (LKS) that was found in this paper:
- (LKS) is a rare childhood neurological condition that causes developmental regression, loss of language skills and abnormal electroencephalogram (EEG) patterns.
- Several studies have found that an arginine to histidine mutation at site 518 in the GRIN2A gene is highly correlated with LKS and other epilepsy-aphasia syndromes [2].
- Boys are more likely to be affected and the syndrome is associated with partial penetrance and autosomal dominant pattern of inheritance.
- At the time of onset, a child will present with symptoms of auditory verbal agnosia. Seizures are noted in 75%-80% of the cases with cognitive impairment, memory disorders, and global regression in behavior, as well as hyperactivity.
- Electroencephalogram (EEG) findings in patients showed regional spikes in the fronto-, centro-, or posterior-temporal areas of the brain in all patients. Other characteristic EEG findings include continuous and diffuse slow spikes and waves, mostly at 1.5-2.5 Hz, immediately after the patient falls asleep. These patterns continue through all the slow wave-sleep stages [3].
- Treatment for LKS has included anti-epileptic drugs (AED) with corticosteroids. Studies show that the use of AEDs alone does not improve the aphasia. Valproate has been used to prevent seizures. Sulthiame and clobazam have helped with the aphasia [1].
- the paper includes a case study of a child with LKS who was treated with "cortexin, nootropics, hopantenic acid, magnesium, B6, Sonopax (thioridazine), and glycine."  The authors speculate this this patient's LKS may have been triggered by a tick bite.

From MedicineNet "symptoms of LKS appear later in childhood and do not include social difficulties." (when compared to ASD).

From Autism Research Institute:
- These individuals first lose their ability to comprehend (i.e., receptive speech) and then their ability to speak (i.e., expressive speech). These changes can occur gradually or suddenly.
- People with Landau-Kleffner Syndrome have abnormal EEG patterns (i.e., brain waves) in the temporal lobe (located on the sides of the brain) and in the temporo-parieto-occipital regions during sleep.
- Approximately 70% develop epilepsy; and these seizures are typically infrequent and can be either with or without convulsions.
- One common characteristic of Landau-Kleffner Syndrome is the failure to respond to sounds. Thus, parents may suspect their child of hearing loss.
- Autistic characteristics seen in Landau-Kleffner Syndrome individuals include pain insensitivity, aggression, poor eye contact, insistence on sameness, and sleep problems.
- The prognosis is better when the onset is after age 6 and when speech therapy is started early.
- treatments have also been shown to be beneficial for many of these individuals, such as anticonvulsant mediations and corticosteroids. There is also a surgical technique in which the pathways of abnormal electrical brain activity are severed.

Unraveling the Overlap Between Landau-Kleffner Syndrome and Autism Spectrum Disorder: A Systematic Review and Case Series
"Landau-Kleffner Syndrome (LKS) and autism spectrum disorder (ASD) are distinct neurodevelopmental conditions that can present with overlapping features such as language regression, behavioral disturbances, and social withdrawal. These similarities often complicate differential diagnosis, especially in early childhood. Accurate distinction is critical for appropriate intervention and prognosis."  The study found that a differential diagnosis between LKS and ASD is complicated and should involve significant observation and multiple specialties, and that the two conditions can also co-occur, increasing the already complex task of diagnosis.  It is further emphasized that early diagnosis is important to ensure that the correct interventions are initialed early for best outcome.

Efficacy of ACTH therapy in children with Landau-Kleffner Syndrome and Autism Spectrum Disorder: A retrospective analysis
- Landau-Kleffner Syndrome (LKS) and Autism Spectrum Disorder (ASD), both neurodevelopmental disorders, are frequently associated with epileptic seizures and characteristic epileptiform activity. Electrical Status Epilepticus during Sleep (ESES) is commonly observed in LKS, while Interictal Epileptiform Discharges (IEDs) are typical in ASD.
- Adrenocorticotropic hormone (ACTH) treatment has demonstrated the potential to reduce the indexes of these related discharges and the number of seizures.
- ACTH treatment led to significant improvements in indexes and seizure control in both LKS and ASD populations. In children with LKS and epileptic seizures... 50 % achieving complete seizure control. For children with ASD and epileptic seizures... 41 % achieving complete seizure control. Rare side effects were transient and reversible, with no reports of serious adverse events.

Child with Landau Kleffner Syndrome misdiagnosed as Autism: A case report 

 

 

 

Acetominophen Use and Autism- The Evidence

Using acetaminophen during pregnancy may increase children’s autism and ADHD risk

Mount Sinai Study Supports Evidence That Prenatal Acetaminophen Use May Be Linked to Increased Risk of Autism and ADHD 

Evaluation of the evidence on acetaminophen use and neurodevelopmental disorders using the Navigation Guide methodology

FDA memo to physicians Notice to Physicians on the Use of Acetaminophen During Pregnancy

Tylenol is a brand name for the drug acetaminophen, which is the last of a class of drugs still on the market that were derived from coal tar.  It was put on the market when it's predecessor, phenacetin, was taken off the market due to being highly carcinogenic.  The other drug from the class, acetanilide, was withdrawn from the market because it was found to be hepatotoxic (toxic to the liver) and caused methamaglobinemia (blocking the ability of hemoglobin to carry oxygen).  

Tylenol & Autism: The Peripartum Risk We’re Missing with Dr. William Parker

On "Bettelheiming"

 

I began working with children with autism back in 1995, and most of the history of autism before the mid 2000s has been erased (enabling new narratives to be presented and accepted) so I want to add some of it back here. Bettelheim was a complete fraud and charlatan. He fabricated any credentials and expertise he claimed to have, and wrote his book "The Empty Fortress" based entirely on conjecture. Despite this, his book and theory (the notorious "refrigerator mother" theory) were unquestioningly accepted by mainstream medicine and for decades all treatment of autism was based entirely on his "work"- no research or independent inquiry was done at all. What this meant was that children with autism and their mothers were sent to psychiatrists who interpreted everything the child did as a sign of alienation by the mother (for example, a child who had a stim of knocking on things was said to be "knocking on his mother's emotions, asking to be let in"). No attempt was made to try to understand the person with autism or help them or teach them or ease their distress. The mothers were told that they had caused their child's autism (remember that at this time, autism meant the form that we now call "profound" or "level 3" autism only) and were shunned. Often they were made to wait outside because they were told they were so heinous for what they had done that they weren't worthy or deserving of human treatment. There were times when a child died in an accident (remember, we're talking about level 3 autism in a world with zero accommodations or awareness) and the mothers were told that the child had intentionally unalived themselves to get away from them. There were mass self-unalivings of mothers at this time because society trusted and believed what the doctors said without question (until Bernie Rimland came along, who has also largely been erased, and who finally did some research and created the beginnings of the concept of autism we have now of it being a neurodevelopmental disorder), and the weight of that blame and self-blame was more than many could cope with.

When people say that the history of autism treatment is filled with "snake oil salesmen" this began with western medicine. The word "quackery" referring to doctors was first coined to describe AMA doctors when they were new on the scene. They never acknowledged or apologized for the harm they did by embracing Bettelheim with such anti-scientific fervor. "Bettelheiming" is much more than not being believed- it's being scapegoated, bullied into silence, blame-shifted and victim-blamed and it was often deadly. If you listen to what families of people with Level 3 autism have been saying this past month, things haven't gotten much better, only now it's parts of the autism community itself who have been co-opted into this bullying. This is why history matters. This is what can happen when it gets erased. This is the tip of the iceberg of just the history of autism, let alone all the other history that has been erased in America.

Mold-Induced Illness

(work in progress)

Significant exposure to mold and related organisms, usually prolonged, can cause a wide range of symptoms and conditions.  This is a common cause or exacerbating factor for MCAS.  Common symptoms of mold illness include fatigue, headaches, digestive problems, respiratory problems (including asthma and shortness-of-breath), cough, sore throat, allergies and reactions that look like allergies (such as sneezing, hives, rashes), excessive thirst, muscle cramps, joint pain, stiffness in the morning, sleep problems, night sweats, brain fog and related cognitive issues (such as problems with memory and executive function), light sensitivity, blurred vision,  numbness, tingling, and tremors.

Mold illness can be diagnosed as many things, including- ME/CFS, Fibromyalgia, MS, Somatization disorders, anxiety, depression, PTSD, ADHD, dementia, Irritable Bowel Syndrome, and more.  That is to say that you may meet criteria for one or more of these diagnoses, but mold exposure is the reason that you have the symptoms in the first place.  For some people, treating and healing from the mold illness allows them to heal and lose the diagnosis.  Whether or not they "actually had" the illness then becomes a semantic issue rather than a scientific one.

The Basics of Mold Illness and Toxicity
Mold Toxicity - Depression, Anxiety, Fatigue, Brain Fog & Inattention 
Mold "can contribute to Pyrrole Disorder due the stress it puts on the body.  It can lead to elevated copper by overwhelming one of the antioxidants in the body that regulates copper.  Because it interferes with the immune system, it can lead to a susceptibility to candida/yeast, Lyme and its co-infections.  It also frequently worsens mast cell activation."

Mold can thrive in water damaged buildings or anywhere indoors where there is retained moisture, including AC units and ductwork.  The mold thrives because it has the ideal conditions for growth and because it doesn't have the competition that keeps it in check outdoors.  Additionally, mold spores and toxins build up inside without the natural ventilation that exists outside.  Mold can poison us with toxins and it can also colonize our bodies, such as our sinuses and GI tract.  Some people also have mold allergy.

"Seemingly 25% of people are unable to make antibodies to mold toxins. Add to that the 50% of buildings that have water damage, and you have a lot of people who are unknowingly becoming toxic while spending time in affected homes, schools, workplaces, cars, dorms, and nurseries."

"Mold toxins basically go from the body, to the liver and gallbladder where they are bound to bile and sent out into the gastrointestinal tract. The bile, however, is recycled (as a means of conservation), and thus take toxins back into the body."  

Some of the symptoms that she lists that I don't see listed often include: electric shock sensations, ice-pick pains, Atypical Parkinson's Disease, Atypical ALS, Psychogenic seizures or pseudo-seizures​​, Tics, spasms and seizure like events; Sensitivity to light touch, Suspected or Diagnosed PANS/Pediatric Acute-Onset Neuropsychiatric Syndrome, Rapid weight gain, Body temperature dysregulation, and diagnosis of fibromyalgia, or chronic fatigue.  
Detection of Mycotoxins in Patients with Chronic Fatigue Syndrome
"Urine specimens from 104 of 112 patients (93%) were positive for at least one mycotoxin (one in the equivocal range). Almost 30% of the cases had more than one mycotoxin present. OTA was the most prevalent mycotoxin detected (83%) with MT as the next most common (44%). Exposure histories indicated current and/or past exposure to WDB in over 90% of cases. Environmental testing was performed in the WDB from a subset of these patients. This testing revealed the presence of potentially mycotoxin producing mold species and mycotoxins in the environment of the WDB. Prior testing in a healthy control population with no history of exposure to a WDB or moldy environment (n = 55) by the same laboratory, utilizing the same methods, revealed no positive cases at the limits of detection."

Most doctors who specialize in mold illness use urinary mycotoxin testing to figure out which mycotoxins a patient is dealing with, as treatment consists largely of the use of binders and different ones bind different toxins  

Comprehensive Guide to Mycotoxin Binders

MCAS & Mold: Fungal Colonization of the Sinuses (video)

Mold often co-occurs with other organisms, such as bacteria, in water-damaged buildings.
Aerobic Actinomycetes of Clinical Significance

CIRS (Chronic Inflammatory Response Syndrome)
There is another condition called CIRS (Chronic Inflammatory Response Syndrome) which seems to me to be essentially another name for MCAS, but was recognized and described without as thorough an understanding of the underlying immunological mechanisms.  CIRS-WDB refers specifically to the condition when developed after prolonged exposure to the inside of water-damaged buildings.  According to this 2024 study, CIRS is "an acquired medical condition characterized by innate immune dysregulation following respiratory exposure to water-damaged buildings (WDB).", and states that ME/CFS is "a common misdiagnosis of CIRS".  MedicineNet gives a more detailed description of CIRS "a multisystem and multi-symptom illness that occurs when a person gets exposed to toxins such as mold spores or biotoxins found in tick or spider bites. These toxins get attached to the immune system to trigger an inflammatory response and induce hormonal changes. The immune system produces an excess of cytokines that can lead to the immune system attacking its tissues, causing inflammation and other associated symptoms."  This source further defines biotoxins as "fat-soluble molecules that travel from cell to cell without entering the bloodstream" and further states that "measuring biotoxins in the blood is difficult, but doctors usually identify them by the damage inflicted on various organs."

According to Dr Shoemaker, there are some HLA-DR/DQ haplotypes (combinations of genes that are inherited together) that make a person less able to clear biotoxins, such as mold toxins, from their bodies, making them more likely to develop CIRS when exposed to mold, which then cause the innate immune system to overreact and lead to chronic inflammation.  These include:
HLA-DR4-3-53
HLA-DR7-2/3-53
HLA-DR11-3-52B
HLA-DR13-6-52A/B/C
HLA-DR17-2-52B
HLA-DR18-4-52A

Diagnostic Process for Chronic Inflammatory Response Syndrome (CIRS): A Consensus Statement
Report of the Consensus Committee of Surviving Mold
"Clinical management of patients with a complex, multisystem, multi-symptom illness identified as a chronic inflammatory response syndrome (CIRS) has expanded. Often associated with illness due to exposure to low molecular weight biotoxins and inflammagens found (i) inside water-damaged buildings (WDB); (ii) following exposure to blooms of cyanobacteria; (iii) following consumption of ciguatoxic fish; and (iv) following confirmed acute Lyme disease, persistent despite reasonable use of antibiotics, CIRS is increasingly recognized. A need for a formal case definition and case management protocol has arisen. Patients with CIRS will have abnormalities in innate responses, reduced levels of
regulatory neuropeptides MSH and VIP, elevated inflammatory markers of C4a, MMP9 and TGF beta-1.  Systemic illness, based on abnormal gene activation and suppression, as shown by RNA Seq and transcriptomics, requires a multi-factorial, rigorous diagnostic assessment to assist in both differential diagnosis and monitoring response to therapy. A consensus statement is herein provided to assist practitioners in case identification and management."

Chronic inflammatory response syndrome: a review of the evidence of clinical efficacy of treatment

Dr. Scott McMahon, a board-certified pediatrician and CIRS specialist (Podcast)

Treatment for Mold Illness
The Shoemaker Protocol is widely recognized as the best treatment for mold-induced illness, whether or not you call it CIRS.  

Doctors who specialize in treating people with mold-induced illness tend to use urinary mycotoxin testing to identify which mycotoxins a person is dealing with, and prescribe substances that bind and remove those specific toxins as part of the treatment protocol.  Examples of binders include bentonite clay, activated charcoal, chlorella, cholestyramine, and colesevelam HCI. 

Finding and Remediating Mold in Your Environment
Consensus Statement for Microbial Remediation 2020
(Indoor Environmental Professional Panel of Surviving Mold)

Dr Jill Carnahan is considered by many to be an authority on cleaning mold and mold remediation.  This page from her website has the basics:
How to Get Rid of Mold – Definitive Mold Removal Guide

"Michael Rubino provides valuable resources and professional guidance on safely addressing mold issues in your home. His website offers detailed information on proper mold cleaning techniques, prevention, and the importance of air quality in maintaining a healthy living environment."

This is information given to me by someone with specialized knowledge of building materials:
"MDF is Medium-Density Fiberboard. There is also OSB, or Oriented Strand Board, and there are number of other building products like particle board made with the tailings or trash from milling lumber, held together by resins. The wood millings are damp from cutting, lay around in damp piles, and develop mold. The mold in this wood is fed by the resins used to make it into building materials. The paper backing on drywall has the same issue. I understand that there is now third-party certified mold-free OSB and MDF made differently."

ImmunoLytics swab tests

Resources Regarding Mold and Mold Illness:
Dr Ritchie Shoemaker's "Surviving Mold" website

International Society For Environmentally Acquired Illnesses / ISEAI website

American Academy for Environmental Medicine 
(database of practitioners who treat environmentally acquired illnesses including mold)

Dr Neil Nathan, MD is an expert in mold illness.  This book from him is highly regarded:
Toxic: Heal Your Body from Mold Toxicity, Lyme Disease, Multiple Chemical Sensitivities, and Chronic Environmental Illness

Dr Jill Crista, ND is a highly respected mold doctor.  "Dr. Jill focuses on conditions that cause injury to the brain and nervous system, including mold, PANS/PANDAS, Lyme disease, and concussion."
Dr Jill Crista online courses about mold 

Dr. Efrat Lamandre focuses on integrative and functional medicine, offering solutions for mold toxicity, chronic illnesses, and environmental health issues. Her practice emphasizes a holistic approach to diagnosing and treating mold-related conditions. Her website provides information and support for those navigating mold toxicity and other environmental health concerns.
Toxic Overload and Chronic Illness: How Mold, Plastics and Pesticides Make You Sick

#moldfinders: RADIO (Podcast)
Mold expert Brian Karr shares his secrets on how to find and remove mold and mycotoxins from your home,

The Virginia Center for Health and Wellness (has video series from Dr Andrew Heyman 

National Institute of Environmental Health Sciences Mold Information

CDC Information About Mold 

EPA Information About Mold

RealTime Laboratories, Inc. (RTL)
"RealTime Laboratories, Inc. (RTL) is a CAP and CLIA accredited clinical and environmental diagnostic laboratory that specializes in testing for and identifying hazardous mold, toxins, and infectious diseases."  They have a free e-book called:
Mycotoxins 101: An Introduction to Crucial Facts

MyMycoLab provides mycotoxin testing

Mold prevention strategies and possible health effects in the aftermath of hurricanes and major floods

The Hidden Connection: COVID, Mold Exposure, and Viral Reactivation 

A comprehensive review of mold research literature from 2011 - 2018

Legal Resources
Well.Law is a legal practice that understands the complexities of mold-related and environmental illness cases. They support clients navigating housing issues, disability rights, and toxic exposure with compassion and legal expertise. She started the personal injury firm she couldn't find.

How to get the most insurance money for mold remediation
"Learn the secrets insurance companies don’t want you to know that will maximize your insurance coverage amount."

Mold Insurance Playbook with Corey Levy (Podcast)
"It can be really expensive... But what if you didn’t have to pay full price for remediation? That’d be awesome! Today we share our entire playbook on how to maximize your coverage! Here is the quick overview... and we go in depth on each one of these in the episode: 1) DON’T CALL YOUR INSURANCE COMPANY! 2) STOP the water 3) Mold Inspection 4) Get Remediation Bids 5) Hire a public adjuster 6) Now you can contact your insurance company... If you go out of order you can literally cost yourselves tens of 1,000s of dollars!"

Mito Dysfunction in autism

Evidence of Mitochondrial Dysfunction in Autism and Implications for Treatment
Daniel A. Rossignol, J. Jeffrey Bradstreet, International Child Development Resource Center,

"Classical mitochondrial diseases occur in a subset of individuals with autism and are usually caused by genetic anomalies or mitochondrial respiratory pathway deficits. However, in many cases of autism, there is evidence of mitochondrial dysfunction (MtD) without the classic features associated with mitochondrial disease. MtD appears to be more common in autism and presents with less severe signs and symptoms. It is not associated with discernible mitochondrial pathology in muscle biopsy specimens despite objective evidence of lowered mitochondrial functioning. Exposure to environmental toxins is the likely etiology for MtD in autism. This dysfunction then contributes to a number of diagnostic symptoms and comorbidities observed in autism including: cognitive impairment, language deficits, abnormal energy metabolism, chronic gastrointestinal problems, abnormalities in fatty acid oxidation, and increased oxidative stress. MtD and oxidative stress may also explain the high male to female ratio found in autism due to increased male vulnerability to these dysfunctions.
Biomarkers for mitochondrial dysfunction have been identified, but seem widely under-utilized despite available therapeutic interventions. Nutritional supplementation to decrease oxidative stress along with factors to improve reduced glutathione, as well as hyperbaric oxygen therapy (HBOT) represent supported and rationale approaches. The underlying pathophysiology and autistic symptoms of affected individuals would be expected to either improve or cease worsening once effective treatment for MtD is implemented."

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions
"The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,910 in the Azores islands. Referred children were directly assessed using the Diagnostic and Statistical Manual of Mental Disorders (4th ed.), the Autism Diagnostic Interview–Revised, and the Childhood Autism Rating Scale. Clinical history and a laboratory investigation was performed. In parallel, a systematic multi-source search of children known to have autism was carried out in a restricted region. The global prevalence of ASD per 10,000 was 9.2 in mainland, and 15.6 in the Azores, with intriguing regional differences. A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders."

Dr Bernadine Healy, former head of the NIH, speaks about the potential link between vaccines and autism

In this interview of Dr Bernadine Healy by Sharyl Attkisson (linked to in the article "The Open Question on Vaccines and Autism"), Dr Healy discusses why the possibility of a relationship between vaccination and autism has not been settled by the scientific research, and why it needs to be kept open.  Dr Healy is an MD and the former head of the NIH so she is no fringe character, but instead has had a view of this from the inside.  Her perspective is valuable and it's a shame that it's been pushed aside by the media.

She explains that we have technology and opportunities now to study this question in new ways and that there is a responsibility to the public to really examine potential risks to vaccines, and to identify groups of people susceptible to vaccine injury if there are any.  She says that identifying at risk groups, and finding ways to keep them safe, won't make the public lose faith in vaccines...rather it will increase public trust to know that questions of safety are being taken seriously.  She says that the insistence by many government officials that there is adequate evidence to conclude that vaccines are not involved in autism is simply not supported by the evidence and is premature.

Here are some highlights of the interview:

"This is the time when we DO have the opportunity to understand whether or not there are susceptible children, perhaps genetically...perhaps they have a metabolic issue...a mitochondrial disorder....immunological issue...that makes them more susceptible to vaccines plural? Or to one particular vaccine?  Or to a component of vaccine, like mercury.  So we now, in these times, have to I think take another look at that hypothesis, not deny it.  And I think we have the tools today that we didn't have 10 years ago, that we didn't have 20 years ago, to try and tease that out and find out if indeed there is that susceptible group."

"I do not believe that if we identify the susceptibility group, if we identified a particular risk factor for vaccines or if found out that maybe they should be spread out a little longer, I do not believe that the public would lose faith in vaccines."

"..it is the job of the public health community, and of physicians, to be out there and to say "yes, we can make it safer, because we *are* able to say this is a subset, we're going to deliver it in a way that we think is safer".  So I think the public would respect that."

Question from Sharyl Attkisson "But public health officials have been saying they know, they've been implying to the public they know, there's enough evidence, and it's not causal" (vaccines and autism):

Dr B.H. "I think you can't say that...you *can't* say that.

S.A. "Do you think the government was too quick to dismiss out-of-hand that there was this possibility of a link between vaccines and autism?"

Dr B.H. "I think the government, or certain public health officials in the government, have been too quick to dismiss the concerns of these families without studying the population that got sick.  I haven't seen major studies that focus on 300 kids who got autistic symptoms within a period of a few weeks of a vaccine.  I think the public health officials have been too quick to dismiss the hypothesis as irrational without sufficient studies of causation.  I think that they often have been too quick to dismiss studies in the animal laboratory- either in mice, in primates- that *do* show some concerns with regard to certain vaccines and also to the mercury preservative in vaccines.  The government has said, in a report by the Institute of Medicine- and by the way, I'm a member of the Institute of Medicine, I love the Institute of Medicine- but a report in 2004 it basically said "do not pursue susceptibility groups, don't look for those patients, those children who may be vulnerable.  I really take issue with that conclusion.  The reason why they didn't want to look for those susceptibility groups, was because they're afraid that if they found them, however big or small they were, that that would scare the public away.  First of all, I think the public is smarter than that, the public values vaccines, but more importantly...I don't think you should EVER turn your back on any scientific hypothesis because you're afraid of what it might show."

S.A. "You're saying that public health officials have turned their back on a viable area of research largely because they're afraid of what might be found?"

Dr B. H. "If you read the 2004 report, and converse with a few of my colleagues, who believe this still to be the case...there is a certain concern...there is a completely expressed concern that they don't want to pursue a hypothesis because that hypothesis could be damaging to the public health community at large by scaring people.  I don't believe the truth ever scares people, and if it does have an edge to it then that's the obligation of those who are delivering those facts to do it in a responsible way so you don't terrify the public.  One NEVER should shy away from science, one should never shy away from getting causality information in a setting in which you can test it.  Populations do not test causality, they test associations.  You have to go into the laboratory and you have to do designed research studies in animals.  What we're seeing in the bulk of the population is that vaccines are safe.  Vaccines are safe, but...there may be this susceptible group.  The fact that there is concern that we don't want to know that susceptible group is a real disappointment to me.  If you know that susceptible group, you can save those children.  If you turn your back on the notion that there's a susceptible group, that means that you are...what can I say?"

S.A. "It sounds like you don't think the hypothesis, of a link between vaccines and autism, is completely irrational?"

Dr B.H. "When I first heard that there was a link between autism and vaccines I thought "well that's silly".  Really, I tended to dismiss it just on the superficial kind of reading...reading what was in the papers...no offense to the media....  So when I first heard about it, I thought "that doesn't make sense to me".  The more you delve into it, if you look at the basic science, if you look at the research that's been done on animals, if you also look at some of these individual cases, and if you look at the evidence that there is no link, what I come away with is that the question has not been answered."

Studies that Validate the Possibility of Recovery From Autism

In April of 2025 the most recent study validating recovery from autism was published, entitled Sociodemographic and Clinical Characteristics of Children Who Lose the Autism Spectrum Disorder Diagnosis from the study:
"This study retrospectively reviewed the medical records of 1465 children and adolescents aged 0-18 who were diagnosed with ASD between December 2017 and June 2021, and followed up by a child and adolescent psychiatrist. The files of a total of 50 LAD (Lost Autism Diagnosis) patients were analyzed.

Of the children who lost their autism diagnosis, "26% of the sample still had an additional psychiatric diagnosis, with attention deficit hyperactivity disorder and speech sound disorder being the most common. Eighteen percent of the sample was found to be taking medication, primarily risperidone."

This study shows that a subset of monitored children may lose their diagnosis, but further research to determine the clinical characteristics, symptomatology, and biological factors of this group of children will be more informative regarding optimal outcome processes."

In February of 2013 the National Institute of Mental Health published a study entitled "Optimal outcome in individuals with a history of autism" that found that recovery from autism does occur. The study was designed to find out whether reports of recovery were due in fact to misdiagnoses, and at what level these individuals were functioning after the loss of the diagnosis:

"Although autism spectrum disorders (ASDs) are generally considered lifelong disabilities, literature suggests that a minority of individuals with an ASD will lose the diagnosis. However, the existence of this phenomenon, as well as its frequency and interpretation, is still controversial: were they misdiagnosed initially, is this a rare event, did they lose the full diagnosis, but still suffer significant social and communication impairments or did they lose all symptoms of ASD and function socially within the normal range?"

The study found that "Optimal outcome and TD (typically developing) groups' mean scores did not differ on socialization, communication, face recognition, or most language subscales, although three OO individuals showed below-average scores on face recognition. Early in their development, the OO group displayed milder symptoms than the HFA group in the social domain, but had equally severe difficulties with communication and repetitive behaviors."

And reached the conclusion that "Although possible deficits in more subtle aspects of social interaction or cognition are not ruled out, the results substantiate the possibility of OO from autism spectrum disorders and demonstrate an overall level of functioning within normal limits for this group."

It cannot be understated how important this level of recognition for the reality of recovery from autism is. I know some of the families who participated in the study, and can say that they were impressed at the level of detail and the open-mindedness of the researchers. This gives me a lot of hope. I just wish that the word would spread faster, as many if not most people still do not believe that recovery is real.

This article from Science Daily provides more information about the study and how it was conducted. This study is the first in a series, apparently:

"This study cannot provide information on what percentage of children diagnosed with ASD might eventually lose the symptoms. Study investigators have collected a variety of information on the children, including structural and functional brain imaging data, psychiatric outcomes, and information on the therapies that the children received. Analysis of those data, which will be reported in subsequent papers, may shed light on questions such as whether the changes in diagnosis resulted from a normalizing of brain function, or if these children's brains were able to compensate for autism-related difficulties. The verbal IQs of the optimal outcome children were slightly higher than those with high functioning autism. Additional study may reveal whether IQ may have been a factor in the transition they made."

"All children with ASD are capable of making progress with intensive therapy, but with our current state of knowledge most do not achieve the kind of optimal outcome that we are studying," said Dr. Fein. "Our hope is that further research will help us better understand the mechanisms of change so that each child can have the best possible life."

Scientific American also ran an article about this study entitled "Is It Possible to Recover From Autism?" that gives more insight and mentions another, similar study that is being done to explore autism recovery. From this article:

"This finding is not the first to suggest that some young adults with autism lose their symptoms. A 2008 literature review reported that 3 to 25 percent of affected people eventually recover. But the recent study was especially rigorous."
More about the study design "An expert diagnostician thoroughly reviewed the early records of all recovered participants to confirm that they truly had autism when they were younger, and she correctly rejected 24 reports from kids with nonautism diagnoses (such as language disorders) that had been slipped in as foils, verifying that her diagnostic technique was sound. These measures made researchers confident that the now typically functioning children had not initially been misdiagnosed. The team also set a relatively high bar for recovery: participants not only had to be free of autism symptoms, as indicated by a battery of tests—they also had to have typically developing friends and be fully included in regular education classrooms."

And, about the other study that will son be published "Catherine Lord, director of the Center for Autism and the Developing Brain at Weill Cornell Medical College, has been following a group of about 100 people with autism from the time they were diagnosed at age two through their early 20s. Study participants completed a large battery of tests every few years as children and again at age 18, and parents have been filling out questionnaires every year."

"Like Kelley and her colleagues, Lord has found that a handful of participants lose their autism symptoms. Moreover, she says, “their eye contact, gestures, the way they hold their body, the way they talk about their friends”—behaviors that have long been thought to be difficult to improve on—are indistinguishable from those of typically developing adults. They are also functioning well in daily life, holding down part-time jobs while attending college. The researchers fittingly refer to this group as having a “very positive outcome.” A more sizable group is considered “more able” than the remaining adults in the sample—they have no cognitive impairment and are generally doing well academically, although they still have clear autism symptoms. A paper presenting these results is currently under consideration at a peer-reviewed journal."

There has been another study published in 2014 that had similar findings to the NIMH study called

Characteristics of Children Who Lost the Diagnosis of Autism: A Sample from Istanbul, Turkey. 

 This study found that "It could be concluded that a group of children with an autism diagnosis could lose the diagnosis of autism upon early intervention. High IQ and the development of communicative and language skills at an early age could be the most powerful factors contributing to an optimal outcome."

The Loaded Language of Autism Treatment

Lately, it seems that when I'm talking with another ASD mom, I often here her say "I love my child, but.." when she is going to either talk about something that she is doing to help that child, or express a frustration about that child.  I have heard many moms of neurotypical kids express all manner of frustration about their children without ever feeling the need to assure the listener that they do, in fact, love that child.  This has been gnawing away at me for awhile.  What is going on here? 

As all of you are aware, I'm sure, the language around autism is highly politically charged.  Putting the words "autism" and "cure" in the same sentence is akin to bringing matter and antimatter together.  This language is also overflowing with baggage from the sordid past of autism perceptions in our culture, many of which center on the mother.  In addition to the backwards ideas that are hiding in this language, it also is a major barrier to positive productive conversations that can help move us forward.  Like most things when it comes to autism, we mothers are the ones who must change this if it is ever going to change.  In order to move forward and adopt healthy language that is conducive to positive discussions about ASD we need to unpack some of the sloaded baggage inherent in the current language so that we can move forward.

Firstly, we love our children.  This should be just as understood for us as for mothers of neurotypical kids.  I believe that the need we so often seem to feel to assert this is a shadow from the Bettelheim years that needs to be abandoned.  I think we need to stop acknowledging that our love for our children was ever questioned in the first place.  When the mother of a child with seizures, or diabetes, or cancer, or cerebral palsy, or pretty much anything else fights for her children and doesn't give up until they get what they need, she is a hero.  It is assumed that she is motivated by love and devotion for her child.  If we fight this way we are written off as crazy, in denial, and a threat to our children, and our fight is seen as evidence that we do NOT love or accept our children.  This needs to end.

Autism and the Gut Microbiome

I have written a more general post about the connection between autism and problems in the gut, but want to focus specifically on the imbalanced microflora that is such a major part of this.  Many of the symptoms of autism can result directly from the toxins and metabolites produced by the overgrowth of pathogens, and other symptoms can result indirectly from these imbalances.  These symptoms can include sensory issues such as sensitivity to light and sound, obsessive compulsive disorder or tendencies, stimming, self-injurious behavior, aggression, sleep problems, pickiness and food aversions, hyperactivity, anger and rage, other mood issues, rigidity, speech problems, difficulty with processing language, allergies, altered sensitivity to pain, and many more.  These imbalances can lead to or worsen common biological conditions in autism such as mitochondrial dysfunction, high histamine levels, high oxalate levels, leaky gut and IgG food allergies, and possibly even Pyroluria. 

A number of studies have found that the gut flora of people with autism is quite different than that of healthy controls.  One recent study, Pyrosequencing study of fecal microflora of autistic and control children looked at the bacterial composition of microflora in 33 children with autism who have gastrointestinal symptoms compared to controls and found many significant differences, including:

"At the phylum level, Bacteroidetes and Firmicutes showed the most difference between groups of varying severities of autism. Bacteroidetes was found at high levels in the severely autistic group, while Firmicutes were more predominant in the control group. Smaller, but significant, differences also occurred in the Actinobacterium and Proteobacterium phyla. Desulfovibrio species and Bacteroides vulgatus are present in significantly higher numbers in stools of severely autistic children than in controls."

Desulfovibrio is a bacteria that causes problems with the metabolism of sulfur, which is a very common problem for people with autism.  It seems that the water supply may be one source of this bacteria.  If that is where it is coming from, then it would seem that colonization with this bacteria would be the result of an immune deficiency?

Some other recent studies have found that children with autism who also had gastrointestinal complaints had high levels of certain bacteria in gut biopsies, called Sutterella, that was not found in control subjects who did not have autism but did have GI complaints.  

Application of Novel PCR-Based Methods for Detection, Quantitation, and Phylogenetic Characterization of Sutterella Species in Intestinal Biopsy Samples from Children with Autism and Gastrointestinal Disturbances
"Here we describe an association between high levels of intestinal, mucoepithelial-associated Sutterella species and GI disturbances in children with autism. These findings elevate this little-recognized bacterium to the forefront by demonstrating that Sutterella is a major component of the microbiota in over half of children with autism and gastrointestinal dysfunction (AUT-GI) and is absent in children with only gastrointestinal dysfunction (Control-GI) evaluated in this study."

"In a previous study, we showed that a complex interplay exists between human intestinal gene expression for disaccharidases and hexose transporters and compositional differences in the mucoepithelial microbiota of children with autism and gastrointestinal disease (AUT-GI children) compared to children with GI disease but typical neurological status (Control-GI children). Significant compositional changes in Bacteroidetes, Firmicutes/Bacteroidetes ratios, and Betaproteobacteria in AUT-GI intestinal biopsy samples have been reported"

"The GI microbiota plays an essential role in physiological homeostasis in the intestine and periphery, including maintaining resistance to infection, stimulating immunological development, and perhaps even influencing brain development and behavior. Thus, disruption of the balanced communication between the microbiota and the human host could have profound effects on human health."

"In our previous metagenomic study, we found sequences corresponding to members of the family Alcaligenaceae in the class Betaproteobacteria that were present in ileal and cecal biopsy samples from 46.7% (7/15) of AUT-GI children...   Several members of Alcaligenaceae cause clinically relevant infections or are suspected opportunistic pathogens in humans and animals, including members of the genus Bordetella (including the human respiratory pathogens B. pertussis and B. parapertussis."

This is an earlier study done by the same researchers, the findings of which were the basis for the study referenced above.  Impaired carbohydrate digestion and transport and mucosal dysbiosis in the intestines of children with autism and gastrointestinal disturbances
"Reports of deficiencies in disaccharidase enzymatic activity and of beneficial responses to probiotic and dietary therapies led us to survey gene expression and the mucoepithelial microbiota in intestinal biopsies from children with autism and gastrointestinal disease and children with gastrointestinal disease alone. Ileal transcripts encoding disaccharidases and hexose transporters were deficient in children with autism, indicating impairment of the primary pathway for carbohydrate digestion and transport in enterocytes. Deficient expression of these enzymes and transporters was associated with expression of the intestinal transcription factor, CDX2. Metagenomic analysis of intestinal bacteria revealed compositional dysbiosis manifest as decreases in Bacteroidetes, increases in the ratio of Firmicutes to Bacteroidetes, and increases in Betaproteobacteria. Expression levels of disaccharidases and transporters were associated with the abundance of affected bacterial phylotypes. These results indicate a relationship between human intestinal gene expression and bacterial community structure and may provide insights into the pathophysiology of gastrointestinal disturbances in children with autism."

More research about Suterella and intestinal health and function:
Increased abundance of Sutterella spp. and Ruminococcus torques in feces of children with autism spectrum disorder
"We show that numbers of Sutterella spp. are elevated in feces of ASD children relative to controls, and that numbers of R. torques are higher in the children with ASD with a reported functional gastrointestinal disorder than those without such a disorder."

"A previous study by our group used quantitative real-time PCR (QPCR) to compare the abundance of a range of bacteria in feces of children with ASD, their siblings and community controls, and demonstrated a low relative abundance of Bifidobacterium spp. and the mucolytic bacterium Akkermansia muciniphila in children with ASD"  (Here is the study link:
Low relative abundances of the mucolytic bacterium Akkermansia muciniphila and Bifidobacterium spp. in feces of children with autism )

"Our results demonstrate that numbers of Sutterella are elevated in the feces of children with ASD relative to community controls. This confirms and builds on the findings of Williams et al."

"In this study we also extended our analysis of mucus-degrading bacteria in feces of ASD children, having previously shown a low abundance of the mucolytic bacterium A. muciniphila. We measured the abundances of R. torques and R. gnavus, both of which can degrade mucus and have been associated with GI disturbance. We have shown there is a trend of increased fecal numbers of R. torques in ASD children. This pattern of decreased numbers of A. muciniphila but increased numbers of R. torques in feces of ASD children is congruent with the pattern observed in the mucosa of adults with IBD. In the latter study it was also found that growth of A. muciniphila was inhibited by co-culture with MUC2, the predominant form of mucin in the large bowel, whereas this mucin augmented the growth of other bacteria such as R. torques. Although it is likely that the populations and activities of microbes that adhere to the mucus lining the large bowel may differ substantially from those in the feces, it is also likely that some changes in gut mucosal microbial populations are reflected in, and hence detectable in, feces. Changes in the amount of mucus produced may drive changes in mucus-degrading microbes in both the mucosa and in feces, as mucus can be incorporated into the fecal stream. Individuals with IBD or ASD may have changes in large bowel mucus production that could impact (or are a result of changes in) the mucosal barrier of the gut. Indeed, increased gut permeability has been reported in a subgroup of children with ASD."

Metagenomics revealed a correlation of gut phageome withautism spectrum disorder
“The public microbiota database of ASD and typically developing (TD) Chinese individuals were analyzed for phage protein-coding units (pPCU) to find any link between the phageome and ASD. The gut phageome of ASD individuals showed a wider diversity and higher abundance compared to TD individuals. The ASD phageome was associated with a significant expansion of Caudoviricetes bacteriophages. Phages infecting Bacteroidaceae and prophages encoded within Faecalibacterium were more frequent in ASD than in TD individuals. The expansion and diversification of ASD phageome can influence the bacterial homeostasis by imposing pressure on the bacterial communities. In conclusion, the differences of phages community in in ASD and TD can be used as potential diagnosis biomarkers of ASD. Further investigations are needed to verify the role of gut phage communities in the pathogenesis of ASD.”