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Case Study: Rapid Complete Recovery From An Autism Spectrum Disorder After Treatment of Aspergillus With The Antifungal Drugs Itraconazole And Sporanox

Sidney baker.

Private practice in Sag Harbor, New York

William Shaw

The Great Plains Laboratory in Lenexa, Kansas

A child with symptoms placing him within the autism spectrum and with urine biochemical markers consistent with fungal ( Aspergillus ) colonization of the gastrointestinal tract was first treated with the antifungal probiotic Saccharomyces boulardii. A dramatic Herxheimer reaction provided strong clinical indications that mold colonization might be a factor in causing autism in this child.

The child’s physician (Baker) wished to try a more potent antifungal therapy, itraconazole, in an attempt to reverse the child’s autism since itraconazole is an especially effective agent against Aspergillus species.

The child was treated as an outpatient by the physician who had first diagnosed the child with an autism spectrum disorder.

Participant

A child with an autism spectrum disorder.

Intervention

The major intervention was increasing doses of the antifungal drug itraconazole. However, the Sporanox ® brand of itraconazole gave the best results. The child was monitored twice weekly with liver function tests which remained normal throughout the therapy.

The child had a complete recovery from all the symptoms of autism and in addition developed excellent academic, athletic, and musical skills. The recovery coincided with a marked reduction of urine markers of Aspergillus colonization.

Conclusions

Escalation of the dose of itraconazole resulted in a complete loss of all symptoms of autism over the course of three months. This rapid complete reversal of autism is consistent with several articles proposing mold in general and Aspergillus specifically as a potential major cause of autism.

Introduction

The terms autism or “autism spectrum disorder” (ASD) generally refer to a group of neurodevelopmental disorders characterized by a broader phenotype, including typical features such as stereotyped or repetitive behaviors, impaired social activities, and restricted verbal and non-verbal communication. Autism affects more males than females: recent epidemiological studies suggest that the ratio in the prevalence/incidence of ASD is in the range of 4-5:1 male: female. 1 A trend in male: female ratio of population shows convergence from greater than 4:1 in 2010 to 2012 to less than 3:1 in the year 2013.

The word spectrum became attached to autism in 1985. 2 Spectrum came into common usage around the year 2000 and remains uniquely attached to autism. Parents and professionals find themselves very differently placed: the former lost in a space that lacks the specificity expected from a diagnostic label and the latter welcomed by its realistic roominess for children who share certain developmental deficits. If parents and practitioners are to gain from a case report such as this, the specificity of the child’s symptoms would avoid the uncertainty of a spectrum. The symptoms of the child, M, and their meaning will depict his case as no diagnostic label can do. Lists of his positive and negative symptoms as recorded in a questionnaire completed by his parents before the initial visit are given in Tables 1 and ​ and2. 2 . M’s strengths take the lead. Strengths are what leverage healing and provide a novel beginning for a child and his parents whose initial visits with doctors are focused exclusively on their troubles.

Clinical assessment of strengths of child with autism

List of abnormal clinical symptoms of the child with an autism spectrum disorder prior to antifungal therapy

Meaning of letters in the left hand column:

Y – Fungal dysbiosis: Candida or in the case presented here, Aspergillus

NMI – Neuromuscular irritability for which supplement of Magnesium, Potassium, Boron, or Lithium can be considered

LIT – Loss of immune tolerance – as in allergy/autoimmunity where restoration of the microbiota with helminthic therapy or antifungal therapy are to be considered.

FL – Flora – where restoration of the microbiota is to be considered.

FA – Fatty Acids, where a delta-6 desaturase problem with omega 6 fatty acids or unmet needs for omega 3 fatty acids are to be considered

DIG - Digestion

ANS – Autonomic nervous system – calling attention midbrain porosity with respect to functional impairment of speech and automatic regulatory issues.

Symptoms of this child commonly associated with autism include: silly behavior, sleep disorders such as difficulty falling asleep, early wakening, and awakening screaming, strange poses, shrieking, climbing to high places, destructive behaviors, inconsolable crying, fear of harmless objects, hyperactivity, hand flapping, using adults’ hands to show what he wants, excessive spinning of objects, staring for long periods at blinking lights and fans, staring at his own hands, difficulty stopping movement, frequently holding breath, and talking a few words but only when excited.

Symptoms of this child that may be associated with dysbiosis or fungal infection include cradle cap, itching of arms and legs, eyes, and nose, constipation, foul-smelling stools, abdominal distension, diarrhea, colic, abdominal pain, and stools that were slimy or had excessive mucus.

A possible connection between mold (fungus) with autism was first proposed by Shaw and his colleagues in 2000 3 in an open label clinical study of 23 children with autism treated with antifungal therapy using the drug nystatin which is not absorbed from the gastrointestinal tract. In this study organic acid testing by GC/MS indicated that several compounds associated with Aspergillus species or their metabolic products in humans were significantly elevated in children with autism compared to normal controls. Following antifungal treatment with nystatin for 10 days, there was a significant reduction of the Aspergillus compounds 5-hydroxy-methyl-2-furoic acid, furan-2,5-dicarboxylic acid, and furancarbonylglycine) ( Figure 1 ). Since nystatin is not absorbed from the gastrointestinal tract, the reduction in these markers of Aspergillus growth after oral nystatin therapy indicated the likely presence of Aspergillus species in the gastrointestinal tract. A recent study 4 found high levels of cell-wall deficient (L-forms) filamentous fungi species by culture in nearly all blood samples of children with autism and their mothers. These fungi were not present in normal control blood samples. In addition, the affected children had increased specific IgG, IgM, and IgA serum antibodies to Aspergillus fumigatus. However, antifungal treatment was not attempted in this study.

Structures of Aspergillus metabolites

In another approach to assess the effects of environmental conditions favorable to mold growth on autism prevalence, two studies were conducted to assess autism prevalence with wet environmental conditions favorable for mold growth. 5 , 6 Severity of prenatal exposure to tropical storms and hurricanes, which are frequently associated with water damaged housing and mold growth, was positively associated with autism prevalence from storm events in Louisiana from 1980 to 1995, especially in mothers who were in mid- or late gestation. 5 Precipitation levels were positively correlated with rates of ASD in schools from counties of three western states in the USA. 6 A study in 2009 7 suggested that individual exposure to mold increased the severity of neurophysiological abnormalities seen in autistic children by comparing six autistic children exposed to molds and mycotoxins in the home to eight autistic children with no mycotoxin exposure and 29 non-autistic children, and found that the mycotoxin-exposed autistic group had a 1.8-fold higher number of neurobehavioral abnormalities versus the non-mycotoxin autistic group, and a 12.2-fold higher number of neurobehavioral abnormalities than the non-autistic children.

Materials and Methods

Itraconazole, the generic name of a drug that is considered the standard of care for Aspergillus infections, was used to treat the child. Better results appeared to occur with the brand-name drug Sporanox ® . Organic acid testing was performed at The Great Plains Laboratory, a CLIA certified laboratory that has offered organic acid testing services to physicians for over 20 years using a solvent extraction method, formation of trimethylsilyl derivatives, and gas chromatography- mass spectrometry of the derivatives as described previously. 3

The Aspergillus metabolites 5-hydroxy-methyl-2-furoic acid and furan-2,5-dicarboxylic acid in urine samples of the child with autism decreased 97.5% and 99.2% respectively from the baseline values after antifungal treatment with itraconazole. Furancarbonylglycine in the urine, which was in the normal range in the baseline sample, decreased 37.5% in the first followup sample ( Table 3 ). The first period of antifungal treatment was carried out with incremental increases in dosage after worsening of symptoms. Dr. Baker suspected that the worsening symptoms represented a “die-off” or Herxheimer response to the release of fungal toxins. M’s family had access to brand name Sporanox ® and generic itraconazole. It was only after several weeks of otherwise unexplainable sequences of benefit and negative responses unfolded that a correlation of good responses – including Herxheimer reactions–revealed that the brand name Sporanox ® was efficacious and the generic was not. From that point the escalation of dosage produced similar waves of reassuringly similar patterns of exacerbation of negative and breakthrough of positive symptoms. Biweekly measurement of serum AST and ALT reassured us that, even though we were reaching doses that were three-fold the recommended adult dose in this four-year old boy, the benefits continued to soar. The benefits became realized as he broke through with none of his initial symptoms. Once he stabilized at the maximum dose for a matter of weeks, experimental reductions gave what became a predictable pattern of maintenance of benefit at lower doses until he maintained all of his benefits with no further need for Sporanox ® at a time that was a year since the initiation.

Changes in urine organic acid results associated with Itraconazole therapy in child with severe autism.

All the child’s symptoms of autism had disappeared. In addition, the child developed significant athletic skills in soccer, excellent musical skills, and was assessed at performing at an academic skills level of six years old at the age of four.

Aspergillus niger was one of the most common mold/fungi species in stool samples of normal volunteers along with C. albicans, Penicillium sp., Saccharomyces cerevisiae , and P. herbarum 9 but can also result in systemic infection. 10-12 Considering that ~0.01% to 0.1% of metagenomic reads from adult stool samples have mapped to fungal species and that fungal genomes are ~3 to 10 times larger than bacterial genomes, it is possible to estimate that of the 10 13 microorganisms in the GI tract, about a billion fungal cells compose what is often referred to as the gut mycobiota or mycobiome. 9 So the fungal cells represent one ten thousandth of the microbial flora by number in normal people. Many of the A. niger cells in the human intestine are attributed to tree nuts and fruits. There is no simple way to distinguish fungi colonizing the gastrointestinal tract from those that are transient. Strikingly, chronic exposure to low ochratoxin A (OTA) doses could be even more damaging than acute exposure to a high dose and can be produced by A.niger. 12

M’s strengths and symptoms bring precision of individuality to the description of the changes that constituted his cure considering that all his symptoms were alleviated. Considering the parallel changes in his excretion of fungal metabolites, his case is presented as a cure of autism resulting from the reduction of his load of certain toxins. The autism epidemic–along with the increase in prevalence of other chronic illnesses in children – provides strong implications of the role of a wide variety of biogenic, elemental, and synthetic substances in relation to various genetic susceptibilities. 13 We have an environment in which children are exposed to a complexity of chemicals and drugs that challenges any effort to assign individual causation.

The lesson of the case we present here is that the child’s microbiota may be the source of toxins that, once identified, will lead to cure with an antimicrobial drug. M’s robust Herxheimer reaction sufficed to provide the expectation that increasing the dose would at some point get us “over the hump” to sustained alleviation of symptoms and an end of the Herxheimer reactions. As it happened, his dramatic benefits persuaded us to increase the daily dose to a peak dose of 600 mg, a dose at which he became free of all his symptoms. At that time, by coincidence, he changed to a new school where developmental testing revealed him – at age 4 - to have the skills of a six-year old. After sustained improvement for several weeks, his dose was reduced stepwise over a period of six months. He became free of the need for Sporanox ® after about 8 months and has remained so and thrived ever since. A particularly touching moment in his recovery came with his offer, before he had been taught to read , at age 6 to read to his parents. He had displayed skills with children’s picture books but his parents were astonished when he read Big Shark Little Shark from beginning to end.

A single child who recovers from autism and a long list of associated symptoms thanks to a treatment with Sporanox ® raises what we like to call the coelacanth question. Coelacanth is the name of a primitive fish that was found only as fossils until a live one was caught by a fisherman in the 1930’s. With that catch, no-one suggested that more had to be caught before we could believe coelacanths exist only as fossils. After M’s initial response to Sporanox ® and before Dr. Shaw’s laboratory documented Aspergillus as the marker, I began trying a short course of high dose Sporanox ® in patients whose history raised the questions of Functional Medicine: “Might this person have an unmet need to get, avoid. or get rid of something that, if taken care of, would favor Nature’s buoyant impulse toward healing. I had learned from my experience with M that there are some sources of generic itraconazole lack efficacy and that a diagnostic trial of Sporanox ® is most efficiently done with an increase to 600 mg over a period of seven to ten days.

We cite as an example, a patient whose identical twin’s autism responded to treatments from the protocols of the Defeat Autism Now! consensus document to become a young man with a job. His twin suffered with severe ongoing symptoms that were only partially relieved with antifungal, and a long list of “alternative” and conventional therapies. After Baker’s experience with M, he simply suggested that he take 600 mg of Brand Name itraconazole daily while monitoring his AST, ALT and GGT. His dramatic response surpassed any outcome from all previous treatments including Sporanox ® at a normal dose. Shaw reports that he has already found other individuals with autism whose Aspergillus markers are much higher (up to 44 times the upper limit of normal) than the child in this report. In addition, children with autism had very elevated values of one or more of the following mycotoxins when urine samples were tested in Shaw’s laboratory using LC/MS/MS: ochratoxin A, mycophenolic acid, gliotoxin, dihydrocitrinone, roridin E, and enniatin B. In one of these cases of a child with autism with very elevated values of mycotoxins in which house mold testing was done, the testing company stated that inhabitation of the house was not dangerous although some mold was present which should lead to caution when using such services.

A formal trial of itraconazole and Sporanox ® for the treatment of autism would seem to be in order. In addition, the finding by Markova 4 of filamentous fungi in the serum samples of both children with autism and their mothers suggests additional research to determine possible maternal prenatal transmission of fungi as a cause of autism. Another possible reason for her finding is that both mothers and children were simultaneously exposed to environmental molds.

Authors Disclosure Statement

Shaw is the owner of The Great Plains Laboratory, Inc, which performs Aspergillus marker testing as part of the organic acid test and mycotoxin tests for physician clients. Neither author has any connection with pharmaceutical companies producing itraconazole or Sporanox ® . Patient was seen as an outpatient in Dr. Baker’s office. Biochemical testing was done at The Great Plains Laboratory in Lenexa, Kansas.

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Arun was brought for consultation with Dr. A M Reddy by his parents. He was about 4 years old, the second child to the parents. Even while he was being brought into the room, we could hear his loud wailing. It took some time for the child to calm down and later we could observe that the child was very restless. He was running around the room, pulling down cushions and generally creating chaos in the room and mother was quite harried in trying to control him. He was diagnosed with ASD (Autism Spectrum Disorder).

What is ASD?

Autism or Mutinism as it was earlier known was thought primarily to affect communication skills but with more studies, it was understood that autistic children display a wide range of symptoms, hence the word “spectrum” was added to Autism disorder. Autism is a complex neurodevelopmental disorder which affects a person’s social behavior and communication skills.

Why it occurs?

The exact reason why ASD occurs is not known but many risk factors have been identified like age of the parents, poor ovulation, infections or exposures to harmful chemicals or radiation during pregnancy, thyroid, diabetes type of hormonal disorders, birth injuries, infections in childhood, vaccinations, etc.

What are its symptoms?

As its name suggests, ASD displays a myriad of symptoms but some of the common symptoms of ASD is lack of speech. While some children have no speech, in some children speech that was developed before may regress. Many of them do not prefer to mingle with children of their age group. Repetitive action, physical restlessness, inability to understand emotions, mood swings like sudden bouts of excitement, crying without any reason, are few symptoms displayed by many autistic children.

Aggressive behaviors like self-harming, head-banging, tantrum-throwing, biting/pushing others, destructiveness, can be displayed by few. Response to name call, having sustained eye contact, unable to understand commands, stereotypical actions and stimming are some of the common symptoms exhibited by many.

Coming back to the case of Arun, a detailed case history was noted down by our doctors, a summary of which is given below.

He is the second child and the age difference between both the siblings is seven years. After the first child was born, the mother developed hypothyroidism for which she was on thyroxine 50 mcg daily tablets. No history of abortions or contraceptive use was reported. Father was apparently healthy. The age of the parents was 35 and 38 years respectively during conception. She conceived naturally and pregnancy was apparently uneventful. But on deeper probing few differences were found out between both the pregnancies.

While during the first pregnancy the parents were in India, but during second there were in the United States. She was advised to continue with the same dosage of thyroxine and during 6-7 months of the pregnancy, she was given flu and T Dap vaccine. The child was born of emergency C – section as the water broke early. The birth cry was normal and seemingly the child was progressing well but after his first birthday, the child had a bout of severe gastrointestinal infection when they visited India where he was hospitalized for three days and given medicines.

Parents were worried that he seems to put everything in his mouth and his favorite items were paper, cloth, wall plaster. His demands have to be met, else he used to become very upset. Emotional connectivity towards parents was less. He would not follow simple commands and it was becoming increasingly difficult for the parents to manage him. With therapies, his eye contact improved a little and was able to follow a few simple commands but the progress was slow.

He was a picky eater and liked crunchy foods. His bowels were constipated and he was not yet toilet trained. He was given Cuprum Sulph 10 M and was kept on regular follow up.

On the next visit to Dr. A M Reddy Autism Center , the parents complained that their child developed itching on the skin but his restlessness reduced slightly. The medication was continued for about three months during which the child’s anger reduced by 30%, his eye contact improved and he was no longer constipated. His itching too reduced in the meanwhile. A second dose was repeated and about six to seven months of treatment, he started saying few words, tantrum-throwing reduced and his habit of putting everything in the mouth was gone.

The dose was repeated in 50M potency. After about a year and half of treatment, he started interactive communication, giving relevant answers to questions and was doing much better. On the advice of Dr. A M Reddy, they placed him in normal school and he is doing well.

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Suicidal Thoughts and Behaviors Among Children and Adolescents With Autism Spectrum Disorder

• 1 Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland
• 2 Department of Special Education, Towson University, Towson, Maryland
• 3 Department of Mental Health, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland
• 4 Autism Research and Engagement Core, Maryland Center for Developmental Disabilities, Kennedy Krieger Institute, Baltimore
• 5 Maryland Center for Developmental Disabilities, Kennedy Krieger Institute, Baltimore

Identification of both autism spectrum disorder (ASD) and suicidal thoughts and behaviors (STBs) among children and adolescents (hereinafter, children) is increasing in the US. Suicide rates among children aged 10 to 14 years tripled between 2007 and 2021, becoming the second leading cause of death in the US for this age group. 1 Between 2018 and 2021, 315 suicides were reported among US children aged 5 to 11 years. 1 Individuals with ASD show increased rates of STBs, although prevalence estimates vary by study. Research on STBs among those with ASD is characterized by lack of knowledge about the developmental understanding of suicide and finality of death. 2 Given the increasing trend in STBs among preteens in the US and known elevated rates of STBs among those with ASD, this study examined age at onset of STBs among children with ASD.

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Schindel BJ , Baer Chen B , Wilcox HC , Marvin AR , Law JK , Lipkin PH. Suicidal Thoughts and Behaviors Among Children and Adolescents With Autism Spectrum Disorder. JAMA Pediatr. Published online April 01, 2024. doi:10.1001/jamapediatrics.2024.0207

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Case Study of a Child with the Autism Spectrum Disorder

This article aims to observe all the manifestations of the behavior of a child with Autism Spectrum Disorder (ASD), which shows deficits mainly in the communication sector. Also, the child shows repetitive and stereotypical behaviors throughout the lesson (Stasinos, 2016). Initially the paper describes the methodology followed. It then describes the child's cognitive profile and the deficits he presents. He then analyzes the intervention that was applied in order to improve the difficulties he faces and to further strengthen the skills he has already acquired. Finally, the paper presents the main conclusions as they emerged from the intervention.

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Impact of a Genetic Diagnosis for a Child’s Autism on Parental Perceptions

• Original Article
• Published: 05 April 2024

Cite this article

• Julia Wynn   ORCID: orcid.org/0000-0002-5220-6022 1 ,
• Anna Karlsen 2 ,
• Benjamin Huber 3 ,
• Alina Levine 3 ,
• Amanie Salem 4 ,
• L. Casey White 5 ,
• Marti Luby 5 ,
• Ekaterina Bezborodko 4 ,
• Sabrina Xiao 5 ,
• Wendy K. Chung 1 , 5 , 6 ,
• Robert L. Klitzman 7 &
• Paul S. Appelbaum 8  

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Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK study, a study of autism that includes genetic testing. Surveys were administered one month before and one and 12 months after parents received their child’s genetic result. Interviews were conducted approximately one month after results disclosure. A genetic diagnosis (GD) for their child appeared to reduce parents’ sense of self-blame and feelings of guilt, and this impact was relatively stable. The data also indicate a modest impact on parents’ actions related to the condition, perceptions of themselves, and some aspects of life planning for their child, as measured by quantitative instruments at one month and 12 months after receipt of results. Other measures of parental identity and expectations for their child, in contrast, showed little change following receipt of genetic findings. Overall, parents who were told that no GD was identified showed minimal changes in their responses over time. These results suggest a discernable but relatively limited impact of genetic test results on parents of children with autism. These results should be reassuring to clinicians caring for children with autism and are consistent with studies in other areas of medicine that have suggested that genetic results tend to have fewer effects—negative or positive—than were anticipated.

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A de-identified data set that enables the user to replicate the analysis is available upon request from the author.

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Acknowledgments

We are grateful to all the families in SPARK, the SPARK clinical sites and SPARK staff. We appreciate obtaining access to recruit participants through SPARK research match on SFARI Base. JW contributed to the design of the study, data acquisition, data analysis, manuscript drafting and critical review of the final draft. WKC contributed to the design of the study, data acquisition, and critical review of the final draft. AK contributed to data analysis, manuscript drafting and critical review of the final draft. AL and BH led data analysis and critically reviewed the final draft. LCW, ML, and SX led data acquisition and critically reviewed the final draft. RLK contributed to the design of the study, led interview data acquisition, drafted the manuscript, and critically reviewed the final draft. PLA led the design of the study, data acquisition, data analysis, drafted the manuscript, and critically reviewed the final draft.

This study was supported by grant RM1HG007257 from the National Human Genome Research Institute.

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Julia Wynn & Wendy K. Chung

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Wynn, J., Karlsen, A., Huber, B. et al. Impact of a Genetic Diagnosis for a Child’s Autism on Parental Perceptions. J Autism Dev Disord (2024). https://doi.org/10.1007/s10803-024-06273-x

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Glasses found during search for missing teen Sebastian Rogers, police unsure of connection

The search for a missing Nashville-area teenager with autism who disappeared more than a month ago gained momentum this week after Tennessee officials announced a pair of glasses were found in connection to the 39-day-old case.

Sebastian Wayne Drake Rogers , was last seen Feb. 26 near a neighborhood cul-de-sac in Hendersonville, a city about 10 miles northeast of Nashville, according to the Tennessee Bureau of Investigation , the agency that issued an endangered child alert on behalf of the Sumner County Sheriff’s Office.

The boy, 15, was discovered missing at his family's home when his mother went to wake him for school, officials reported.

On Wednesday, law enforcement and first responders from various Middle Tennessee agencies re-gathered to walk in teams near the area where he disappeared in hopes of solving the missing-person case, the Tennessean , part of the USA TODAY Network reported.

"Despite exhaustive efforts, there are no new leads or evidence to indicate the search will be immediately fruitful," the  Sumner County Sheriff's Office posted on Facebook.  "However, we are committed to leaving no stone unturned in our mission to locate Sebastian and bring him home safely."

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Officials cannot say whether glasses belong to Sebastian Rogers

Sebastian’s family has declined to speak publicly about the disappearance, issuing a statement Wednesday through TBI. 

“Understandably, there is interest in hearing from friends and family to help provide more of a personal context about Sebastian," according to the statement obtained by The Tennessean.  "However, we have been requested by the family to let local media know that they are not in a position to speak to or be available to the media at this time."

Just one day earlier, during a Tuesday news conference, Sumner County sheriff's office Chief Deputy Eric Craddock said a pair of glasses were found recently in the search for the teen. But he could not definitively say if the pair belonged to Sebastian.

"We are exploring every lead that comes in and every tip that comes in," Craddock said. “We’re all extremely concerned for Sebastian’s welfare."

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Was Sebastian Rogers found?

Rogers has not yet been found.

Investigators searched a Kentucky landfill, where trash from the neighborhood was taken in hopes of finding clues.  Police have said very little publicly  about the case, including what, if any, evidence has been found. Authorities, though, have scaled back from an active search to an investigation.

The teen was last seen wearing a black sweatshirt, black sweatpants & glasses, the TBI reported, and is 5’5”, 120 pounds with dirty blond hair.

Craddock said this week there is no evidence to support foul play on the part of Sebastian's parents.

Anyone with information about the teen is asked to contact the TBI or Sumner County Sheriff's Office.

Natalie Neysa Alund is a senior reporter for USA TODAY. Reach her at [email protected] and follow her on X @nataliealund.

Autism May Have 'Unnoticed' Driver, Say Stanford Neuroscientists

Neuroscientists at Stanford University have proposed a new theory for a key driving force of autism spectrum disorder.

Roughly one in 100 children worldwide has autism, according to data from the World Health Organization. The term refers to a diverse group of conditions characterized by some degree of difficulty with social interaction and communication.

There are many potential causes of autism spectrum disorders, which include both environmental and genetic factors. However, we still know very little about the specific causes of the condition.

In a new comment paper, published in the journal Molecular Psychiatry , researchers from Stanford University, led by Karen Parker, have highlighted a potential key driver of this condition in certain individuals, providing a possible pathway to improving social abilities in some children with autism.

The theory focuses on a hormone called vasopressin, also known as antidiuretic hormone. This hormone is known to play a diverse range of functions in the human body, hence its multiple different names.

Antidiuretic hormone is most commonly used to describe its essential roles in regulating blood pressure, kidney function and concentrations of water in the blood. But it also plays an important role in modulating social communication and pair bonding behaviors, a context in which it is usually known as the previously mentioned vasopressin.

Because of its role in social interactions, Parker's lab have previously investigated the effects of vasopressin treatment in children with autism. While human trials have so far been limited to a small sample size, children who received this nasally introduced treatment showed significant improvements in social abilities as well as reduced anxiety and repetitive behaviors.

However, to demonstrate that autism is a direct result of vasopressin deficiency, rather than something that can simply be masked by introducing the hormone, the scientists said they needed to look at the other roles it has and how they might be impacted in people with autism.

The researchers said that a deficiency in vasopressin would likely be associated with difficulties controlling the body's water content. For example, they might see individuals with autism also experiencing excessive thirst, excessive urine production, or a condition called central diabetes insipidus which results from an inability to control the body's water balance.

Unfortunately, there are very few studies that explore the links between autism and these conditions. Several studies have shown that people with autism are more likely to experience excessive thirst compared to neurotypical individuals, and compared to those with different neurodevelopmental diagnoses, indicating that this thirst is not simply correlated with intellectual disabilities.

Children with autism also have significantly higher rates of urinary incontinence and bedwetting, which may be a symptom of excessive urine production.

"The emerging evidence reviewed above is consistent with decreased brain [vasopressin] production in at least some individuals with autism spectrum disorder," the authors write.

"However, given a lack of awareness of [vasopressin's] diverse functions, these symptoms may be subtle enough to go unnoticed or, if prominent, may be misattributed to other causes."

More research is now needed to identify whether there is indeed a clear link between water balance-related medical conditions and autism spectrum disorders, as well as determining whether a positive relationship exists between vasopressin deficiency and the severity of social symptoms in individuals with autism.

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Questioning the diagnosis of autism denies the difficulties people like me live with

Being autistic doesn’t explain everything about me – but it helps make sense of my experiences

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T here is a man alongside me. He is well put-together, hand outstretched, deep voice. I stand in a room filled with competent people who look the part. I am there in my role, to get a story, but I have not been sleeping or eating. I feel as if I can’t breathe. The man is questioning me: Who are you? What do you do? I can’t answer.

I am covering a fundraising event as a journalist. I know why the man is questioning me – I have lost my name tag – but in this moment I am not able to answer. It has been one week since I was diagnosed with autism.

Autism diagnoses have been a topic of debate lately, with talk of an “autism epidemic” in Australia. Researchers have claimed Australia’s autism rates are among the highest in the world, with one review suggesting the NDIS is providing a financial incentive for diagnosis. While there have never been more people identifying as autistic, there is public critique of diagnoses. How can we say who we are when it is questioned?

I have experienced difficulties with people, with places, with my own body, across my life. After eight years of therapy, an autism assessment was suggested. I questioned the idea.

As a child I was drawn to imagery and ideas, able to make sense of them internally, to take my experiences and make them into stories. In adulthood, I learned to imitate eye contact, how to shake hands, how to speak. I learned to look the part. I built an identity from the constructs of gender, straightness and class, a persona one friend jokingly called “the competent man”.

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Later-in-life diagnosed autistic adults often evade childhood diagnosis by suppressing their differences and imitating others, a behaviour known as masking. Prolonged masking can cause autistic burnout, occasionally even self-harm .

I noticed the stories in the media while awaiting my assessment, that the rates are too high, that parents are diagnosis shopping. Some have questioned whether it’s young people seeking approval, psychiatrists arguing it can be a social contagion on social media. Isn’t it just anxiety? Do you need a label? I have heard these questions before. I asked them of myself.

The reality is that autism rates in Australia have increased over the last decade, from 1 in 150 in 2015 , to 1 in 70 in 2018 . Peer-reviewed research estimates that one in 31 children are now diagnosed. This is comparable to other countries, the trends predating the nationwide rollout of the NDIS, and reflects the broader understanding of the autism spectrum established in 2013 .

Diagnosis is inaccessible and expensive, often coming after significant difficulty. Autistic adults are more likely to have chronic illness and mental health conditions, less likely to be employed. Suicide is one of the leading causes of premature death in people with autism. Questioning diagnosis denies the data and the difficulties that autistic people live with.

After my diagnosis, I lost a part-time job. I lost 12 kilos. I spent an entire therapy session barely able to breathe. I had panic attacks. A doctor asked if I was having suicidal thoughts. Sometimes I do.

I don’t doubt that some parents are desperate for answers, or that teenagers experiment with labels. I don’t doubt the funding challenges, but who would want these difficulties? I can’t deny mine any more.

I walked from that event and found myself at a nearby river, beneath the trees, in the dappled light of the morning. I took a breath. I imagined a competent man alongside me, well put-together, a man I built. I lived as this man and I loved it, but now that is over. He died, lost, like a name tag. If I don’t accept that, it could kill the only self I have left.

Identity is a construct, but people aren’t built. We form according to our difference, flowing in our own ways like rivers or growing like the arms of trees. Autism doesn’t explain everything about me, but it makes sense of my experiences. I am now accepting my differences. The competent man is dead, but the autistic person is able to breathe. It feels like the morning.

The questions around diagnosis rates and discussions about whether funding to support autistic children should be cut may continue. Regardless of the debate, autistic people are saying who we are. Decision-makers should listen, and help make our experiences the story instead.

Anthony Castle is a writer living on Kaurna land, Adelaide

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Autism and ADHD are linked to disturbed gut flora very early in life

04 April 2024

Disturbed gut flora during the first years of life is associated with diagnoses such as autism and ADHD later in life. This is according to a study led by researchers at the University of Florida and Linköping University and published in the journal Cell.

“The remarkable aspect of the work is that these biomarkers are found at birth in cord blood or in the child’s stool at one year of age over a decade prior to the diagnosis,” says Eric W Triplett, professor at the Department of Microbiology and Cell Science at the University of Florida, USA, one of the researchers who led the study.

Antibiotic treatment could be involved

The study is part of the ABIS (All Babies in Southeast Sweden) study led by Johnny Ludvigsson at Linköping University. More than 16,000 children born in 1997–1999, representing the general population, have been followed from birth into their twenties. Of these, 1,197 children, corresponding to 7.3 percent, have been diagnosed with autism spectrum disorder, ADHD, communication disorder or intellectual disability. A large number of lifestyle and environmental factors have been identified through surveys conducted on several occasions during the children’s upbringing. For some of the children, the researchers have analysed substances in umbilical cord blood and bacteria in their stool at the age of one.

“We can see in the study that there are clear differences in the intestinal flora already during the first year of life between those who develop autism or ADHD and those who don’t. We’ve found associations with some factors that affect gut bacteria, such as antibiotic treatment during the child’s first year, which is linked to an increased risk of these diseases,” says Johnny Ludvigsson, senior professor at the Department of Biomedical and Clinical Sciences at Linköping University, who led the study together with Eric W. Triplett.

Children who had repeated ear infections during their first year of life had an increased risk of being diagnosed with a developmental neurological disorder later in life. It is probably not the infection itself that is the culprit, but the researchers suspect a link to antibiotic treatment. They found that the presence of Citrobacter bacteria or the absence of Coprococcus bacteria increased the risk of future diagnosis. One possible explanation may be that antibiotic treatment has disturbed the composition of the gut flora in a way that contributes to neurodevelopmental disorders. The risk of antibiotic treatment damaging the gut flora and increasing the risk of diseases linked to the immune system, such as type 1 diabetes and childhood rheumatism, has been shown in previous studies.

“ Coprococcus and Akkermansia muciniphila have potential protective effects. These bacteria were correlated with important substances in the stool, such as vitamin B and precursors to neurotransmitters which play vital roles orchestrating signalling in the brain. Overall, we saw deficits in these bacteria in children who later received a developmental neurological diagnosis,” says Angelica Ahrens, Assistant Scientist in Eric Triplett’s research group at the University of Florida and the first author of this study.

The present study also confirms that the risk of developmental neurological diagnosis in the child increases if the parents smoke. Conversely, breastfeeding has a protective effect, according to the study.

Differences at birth

In cord blood taken at the birth of children, the researchers analysed the amounts of various substances from the body’s metabolism, such as fatty acids and amino acids. They also measured some harmful substances that come from outside, such as nicotine and environmental toxins. They compared substances in the umbilical cord blood of 27 children diagnosed with autism with the same number of children without a diagnosis.

It turned out that children who were later diagnosed had low levels of several important fats in the umbilical cord blood. One of these was linolenic acid, which is needed for the formation of omega 3 fatty acids that are anti-inflammatory and have several other effects in the brain. The same group also had higher levels than the control group of a PFAS substance, a group of substances used as flame retardants and shown to negatively affect the immune system in several different ways. PFAS substances can enter the body via drinking water, food and the air we breathe.

Opens up new possibilities

It is not certain that the relationships that the research team found in the Swedish children can be generalised to other populations, but these issues need to be studied in other groups as well. Another question is whether gut flora imbalance is a triggering factor or whether it has occurred as a result of underlying factors, such as diet or antibiotics. However, even when the researchers accounted for risk factors that might affect the gut flora, they found that the link between future diagnosis remained for many of the bacteria. This indicates that some of the differences in gut flora between children with and without future diagnosis are not explained by such risk factors.

The research is at an early stage and more studies are needed, but the discovery that many biomarkers for future developmental neurological disorders can be observed at an early age opens up the possibility of developing screening protocols and preventive measures in the long term.

The study has been funded with support from, among others, JDRF, Horizon Europe, Barndiabetesfonden (the Swedish Child Diabetes Foundation), Forte and the Swedish Research Council. Article: Infant microbes and metabolites point to childhood neurodevelopmental disorders , Angelica P. Ahrens, Tuulia Hyötyläinen, Joseph R. Petrone, Kajsa Igelström, Christian D. George, Timothy J. Garrett, Matej Orešič, Eric W. Triplett and Johnny Ludvigsson. (2024). Cell , published online April 3, 2024. Doi: 10.1016/j.cell.2024.02.035

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People with the same level of income increasingly live in the same kind of areas. This is shown in new research from Linköping University, where changes in income segregation in Sweden have been investigated for almost 30 years.

Antiviral drugs could preserve capacity to produce insulin in type 1 diabetes patients

Antiviral drug treatment could preserve the remaining capacity to release insulin in children recently diagnosed with type 1 diabetes, according to a new study by Scandinavian researchers.

Hans’s part-time retirement on hold following request from the Bonnier family

Not everyone suddenly gets an email from Carl-Johan Bonnier with an invitation to a meeting at Bonnier’s head office in Stockholm. But this happened to Professor Hans Sjögren.

Immune system ageing can be revealed by CT scan

Thymus may play a bigger role in the immune system of adults than was previously believed. With age, the glandular tissue in the thymus is replaced by fat, but the rate at which this happens is linked to sex, age and lifestyle factors.

Solar cell material can assist self-driving cars in the dark

Material used in organic solar cells can be used as light sensors in electronics. This is shown by researchers at LiU who have developed a type of sensor able to detect circularly polarised red light. Their study is published in Nature Photonics.

New network with a focus on women's health

Researcher Lisa Guntram gets funding to launch a network dedicated to exploring and confronting the marginalisation of women's health. This will be the world's first research network on women's health with a focus on social sciences and humanities.

SciLifeLab establishes a new research site at LiU

Technology, expertise, methods and initiatives can be coordinated more within and between higher education institutions. Linköping University is now one of four new sites in the Swedish research infrastructure SciLifeLab.

SEK 13 million for research into solving murders using AI

Was it murder, poisoning or was the death maybe caused by disease? Researchers have now been granted SEK 13 million from the Swedish Research Council to develop a methodology to solve crimes using detailed analyses and artificial intelligence.

Agnes and Emma awarded for their thesis

Civil engineers Agnes Karlén and Emma Torstensson received an award of SEK 30,000, for their master's thesis on composite materials .

Pioneering safe chemotherapy methods for treating infections

Antibiotic resistant bacteria are a threat to human lives, and yet the development of new drugs is slow. A group of proven cancer drugs could possibly be the solution. A new class of antibiotics is now being developed by researchers at LiU.

Quantum communication tested on a large scale

So-called quantum encryption will ensure the security of sensitive information – but this new technology has to be tested outside the lab environment. LiU is therefore taking part in a project studying secure communication channels of the future.

Nixon - with the right to break in

He has worked all over the world, finding weaknesses in supposedly foolproof computer systems. He has found hackers that were then brought to justice. This year’s Alumnus of the Year, is ready to crack down on cyber attacks and computer intrusion.

“My motivation is to make a difference”

With her great drive, knowledge and commitment, Amanda Borneke has come to be the sustainability profile of the construction industry. This year’s Alumna of the Year always sees opportunities and likes an uphill challenge.

Alumni of the Year are experts in IT security and sustainable construction

Leif Nixon has worked in IT security for many years, hacking and defending almost everything you can think of. Amanda Borneke inspires the construction industry to step up its sustainability efforts. These two are the 2023 Alumni of the Year.

LiU participates in project to measure consensus in science

Would it be possible to launch worldwide surveys to determine scientific consensus on a particular issue? If so, could this be a cure for disinformation? Linköping University has joined a project to test this.

Ingemarsson’s new donation to boost interdisciplinarity

Cross-border collaboration and interdisciplinarity are gaining importance in our society. This is something that Ingemar Ingemarsson wants to support. With a new large donation, he is setting up a foundation to award a prize for interdisciplinarity.

Moral and AI must go hand in hand

Moral considerations is one of the things that a safe computer system must be able to handle in the future, according to Erik Sandewall, professor emeritus at LiU.

LiU gets new competence centre – close collaborations with industry

Vinnova is investing more than SEK 30 million in a new competence centre in autonomous systems and advanced mathematical methods at LiU. Climate change and global security are to be the focus of the research groups.

• Autoimmunity and Allergy
• The Brain and the Nervous System
• Department of Biomedical and Clinical Sciences (BKV)
• Division of Children's and Women's Health (BKH)
• Faculty of Medicine and Health Sciences (MEDFAK)