background participants

Participant 049

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Female, age 8, with sudden behavioral change, developmental regression, repetitive speech (echolalia), and brain abnormalities

Date of Report

Feb 01, 2018


During the first few years of her life, the participant was developing as expected. She learned to walk at 11 months and talk at 12 months, and was described as a sweet, mature, well-behaved child who could sing entire songs and write complete sentences. Upon entering kindergarten, she succeeded academically, testing average to above average, and followed school rules.

Halfway through kindergarten at age 6.5, her behavior suddenly changed and she experienced developmental regression. She began to take part in intentional inappropriate behavior and impulsive acting. Some of these behaviors include not following rules, not listening to teacher/parents and acting like a very young child. These behaviors have since been helped with medication but have not been resolved completely. In addition, she experienced difficulty concentrating, struggled to fully complete tasks at school, and lost her ability to write her name and short words.

The participant also started exhibiting repetitive speech (echolalia) and expressive language delay, only putting together 2-4 words in a sentence. An MRI revealed brain abnormalities (ventriculomegaly, frontal cerebral atrophy) and an EEG showed abnormal brain activity. Additional symptoms include headaches and teeth grinding (bruxism).

Symptoms / Signs
  • Developmental regression
  • Repetitive speech (echolalia)
  • Expressive language delay
  • Inappropriate behavior
  • Impulsivity
  • Difficulty concentrating
  • Headache
  • Brain abnormalities (ventriculomegaly, frontal cerebral atrophy)
  • Abnormal brain activity (EEG abnormalities suggestive of mild encephalopathy)
  • Teeth grinding (bruxism)
  • Self-biting (right hand)
Current Treatments
  • Ritalin – impulsive behavior
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Congenital disorders of glycosylation
  • Metabolic storage disorders
  • Rett syndrome
Other Photographs
Genetic Variants of Interest

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


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