background participants

Participant 202

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Male, age 4, with a history of neonatal abstinence syndrome, global developmental delay, brain malformation (Chiari I malformation), and uncoordinated gait (gait ataxia)

Date of Report

Jul 22, 2022


The participant was born at 37 weeks gestation. He weighed around 4.9 pounds at birth. He was exposed to many substances before he was born (nicotine, cocaine, heroin, methadone, and oxycodone). After birth, he stayed in the NICU for 5 weeks due to neonatal abstinence syndrome and feeding difficulties. He had low muscle tone (hypotonia) after birth and did not gain weight or grow as expected (failure to thrive).

At around 1 year old, he began to have staring spells and events of abnormal tongue movements and screaming. He was evaluated for possible seizures. He had a normal EEG at this time.

Around 2 years old, he had significant uncoordinated movements (gait ataxia) and difficulty swallowing (dysphagia). His family described episodes where he contracted his head, lower back, and arms (opisthotonos). At this time, he had an abnormal EEG and an MRI that revealed abnormal brain physiology (Type 1 Chiari malformation, crowding of the foreman magnum, low-lying cerebellar tonsils).

After treatment for these findings, his abnormal movements and episodes of screaming have improved but are not completely resolved. He still has staring episodes and difficulty swallowing. Sometimes, his skin will turn yellow (carotenemia). He will sometimes have poor circulation and blue-gray skin (cyanosis) around his lips, fingertips, and the tip of his penis. His family reports that he feels cold and shivers even in warm weather.

Around 3 years old, he began experiencing some headaches. He had regression of some verbal milestones. He responded well to treatment with growth hormone, and his height, weight, and appetite improved.

He currently only eats soft solid foods and receives feeding therapy once a week. He is accompanied by a nurse while he attends preschool.

Symptoms / Signs
  • Global developmental delay
  • Brain malformation (Chiari I malformation)
  • Uncoordinated walking (gait ataxia)
  • Short stature for age
  • Prominent forehead
  • Heart anomaly (atrial septal defect)
  • Short fingers and toes (brachydactyly)
  • Tapered finger
  • Low muscle tone (hypotonia)
  • Bleeding in stools (hematochezia)
  • Constipation
  • Excessive feeling of hunger (polyphagia)
  • Feeding difficulties in infancy
  • Abnormal growth hormone levels
  • High fat levels in blood (hyperlipidemia)
Current Treatments
  • Feeding therapy (dysphagia, feeding difficulties)
  • Lactulose
  • Miralax
Prior Treatments
  • Growth hormone injections
Considered treatments
Previously Considered Diagnoses
  • Angelman/Prader Willi syndromes
  • Metabolic conditions
  • Microdeletion/microduplication syndromes
  • Mitochondrial disease
  • Russell Silver/Beckwith-Wiedemann syndromes
Other Photographs
Genetic Variants of Interest

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


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