Aug 02, 2021

The participant was delivered via C-section after an uncomplicated twin pregnancy and was healthy at birth. She was slow to begin breast-feeding compared to her twin brother. She was notably irritable and “floppy” due to low muscle tone (hypotonia) and had difficulty gaining weight as a newborn.

At 5 months old, the participant was hospitalized after she began having seizures that would last anywhere from 30 seconds to 1 minute. The seizures have since been well-controlled with Keppra (levetiracetam), though she has experienced some behavioral side effects from this medication.

The participant has a history of developmental delay and is nonverbal. She can understand around 200 words and uses some signs and sounds to communicate. She has an unsteady gait (gait ataxia) and has had significantly delayed motor development overall. She is generally very social and has a happy disposition.

• Absent speech
• Seizures
• Intellectual disability
• Global developmental delay
• Delayed motor development
• Receptive language delay
• Obsessive-compulsive and aggressive behavior
• Brain abnormalities (borderline ventriculomegaly, delayed myelination, abnormal morphology of the left hippocampus, hypointense basal ganglia)
• Low muscle tone (hypotonia)
• Unsteady gait (gait ataxia)
• Inability to straighten left elbow (elbow flexion contracture)
• Deeply-set eyes
• Mildly protruding jaw (mandibular prognathia)
• Prominent cheeks (malar prominence)
• Limited tongue movement (ankyloglossia)
• Hand and foot abnormalities (extra thumb crease, tapered finger, metatarsus adductus)
• Inverted nipples
• Tibial torsion

• Multivitamin

• Fish oil omega-3 fatty acids
• Keppra – seizures
• Phenobarbital – seizures
• Sinemet – dystonia

• Pyridoxine (vitamin B6) – aggressive behavior as a side effect of Keppra