background participants

Participant 223

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.



Male, age 14 with autism, absent speech, developmental delay, and recurrent episodes of severe abdominal pain

Date of Report

Mar 18, 2024


The participant’s mother had an uncomplicated pregnancy with normal labor and delivery. He met all of his developmental benchmarks until he was 24 months, at which he began to plateau. At 26 months, the participant’s motor and speech skills began to regress, and he began to be less social. The participant began exhibiting stereotypical behaviors, such as putting his fingers in his ears, and was soon after diagnosed with regressive autism. He lost some fine motor skills (such as using utensils), but eventually regained some of those skills back. By 4 years old, the participant lost all language skills. The participant was found to have some metabolite imbalances, suggesting a mitochondrial disorder, however treatment did not improve his symptoms.

At 7 years old, it was noticed that sometimes the participant would limp when walking. He also would feel stiff in the morning, have swollen ankles, and break out in hives (urticaria). After a blood test detected antinuclear antibodies, the participant was sent to rheumatology, but they did not find anything significant. Presently, the participant walks well, however at times he does have a limp and the right foot is turned outward.

At 9 years old, the participant started experiencing recurrent episodes of severe abdominal pain and canker sores (aphthous ulcers). When he experienced the same episode a year later, a CT scan and colonoscopy showed changes to his bowel wall. At first, his symptoms improved after treatment with prednisone and budesonide, however he did not improve after treatment when he experienced episodes in the following years. During an episode at 11 years old, he developed a seizure disorder. After a viral infection at 12 years old, he again experienced an episode of severe abdominal pain and canker sores. He also experienced sores on the fingertips (fingertip ulcers), pain while urinating, and particles in his urine (urinary debris). After a positive HLA-B51 test, and evaluation by rheumatology, the participant was thought to have a periodic fever syndrome or autoinflammatory disorder.

The participant still continues to experience recurrent episodes of severe abdominal pain and recurrent canker sores (aphthous ulcers) and fingertip sores (fingertip ulcers).

Symptoms / Signs

Top 3-4 symptoms:

  • Autism
  • Absent speech
  • Developmental delay
  • Recurrent episodes of severe abdominal pain

Organized head to toe:

  • Intellectual disability
  • Attention deficit hyperactivity disorder
  • Facial asymmetry
  • Cyclic episodes of hives (urticaria)
  • Rash on torso (reticular truncal rash)
  • Recurrent episodes of canker sores (aphthous ulcers)
  • Recurrent episodes of sores on the fingertips (fingertip ulcers)
  • Genital differences (hypospadias, marked penoscrotal fusion)
  • Urinary urgency and pain
  • Particles in urine (urinary debris)
  • Low amount of citrate in the urine (hypocitraturia)
Current Treatments
Prior Treatments
  • Budesonide
  • Famotidine
  • Prednisone
Considered treatments
  • Humira
Previously Considered Diagnoses
  • Autoinflammatory disorders
  • Autoimmune disorders
  • Brain and spinal cord disorders
  • Metabolic disorders
  • Mitochondrial disorders
  • Periodic fever syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
chr3: g.1337409C>A; chr3: g.1367543A>G
c.579C>A; c.991A>G
p.Asn193Lys; p.Ile331Val

If this participant sounds like you or someone you know, please contact us!


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