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Participant 227


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Male, age 8, with feeding difficulties, failure to thrive, developmental delays, and speech apraxia

Date of Report

Jul 15, 2024

Description

The participant was born preterm at 31 weeks with low birth weight. The pregnancy was complicated by twins, liver disease (cholestasis), and kidney stones. The participant’s twin had multiple birth differences and passed away at 5 months old in the NICU.

The participant stayed in the NICU for 41 days and required oxygen and ventilation support. He also had a heart defect (artial septal defect) that resolved on its own.

Both during his NICU stay and after discharge, the participant had difficulties feeding. From 3 months to 1 years of age, he had a feeding tube in place. When he was 6 months old, he was diagnosed with pancreatic enzyme deficiency and was treated with enzyme supplements. After he stopped taking these enzyme supplements at 10 months old, he was diagnosed with failure to thrive.

Following discharge from the NICU, the participant has had significant developmental and growth delays, specifically relating to motor and language. He was delayed in reaching his early motor milestones, such as rolling and walking. At 12 months old, he was diagnosed with apraxia. He did not start using words until he was 3 years old and today has poor articulation. He struggles with reading and remembering things, but he can count well and add.

At 4 years old, he was diagnosed with autism after presenting with staring spells, aggressive behaviors, and autistic behaviors. He continues to have feeding difficulties and depends on a tube for feeding.

Symptoms / Signs
  • Feeding difficulties
  • Failure to thrive
  • Developmental delays
  • Speech apraxia
  • Short height (short stature)
  • Heart defects (atrial septal defect)
  • Mild low muscle tone (Mild axial hypotonia)
  • Acid reflux (Gastroesophageal reflux)
  • Ulcer in food pipe (Esophageal ulceration)
  • Micropenis (Microphallus)
  • Global developmental delay
  • Autism spectrum disorder
  • Absent Speech
  • Obstructive sleep apnea
  • Difficulty making movements for speech (Speech apraxia)
  • Weakness of one entire side of the body (Hemiparesis)
  • Developmental Regression
Current Treatments
  • Albuterol nebulizer
  • Albuterol inhaler
  • Clonidine
  • Erythromycin
  • Ethylsuccinate
  • Gabapentin
  • Hyoscyamine
  • Lactulose
Prior Treatments
  • Adenoidectomy
  • Esophageal stent placed
  • Oral pancreatic enzymes
  • Pressure equalizing tube surgery
  • Surgery to correct atrial ventricular septal defect
  • Tonsillectomy
Considered treatments
Previously Considered Diagnoses
  • Fragile X Syndrome
  • Mitocondrial syndromes
  • Microdeletion/Microduplication syndromes
Other Photographs
Genetic Variants of Interest
Contact

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

Disclaimer

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