The participant was born full term. His mother smoked tobacco during pregnancy and used alcohol prior to knowledge about pregnancy but otherwise had an uncomplicated birth history. He was born with an undescended testicle (cryptorchidism) and had a surgical repair at 16 months old. His replaced testicle did not grow, … read more
As an infant, the participant was very unhappy, often screaming and appearing uncomfortable. She met early developmental milestones, but had problems with coordination (ataxia) and displayed a tremor (action tremor) when reaching for items. Following an illness around 9 months of age, the participant appeared to regress in skills, which … read more
The participant first had an episode of pneumonia at 6 months old. Over time, his episodes became more severe and by 6 years old he began coughing up thick, mucus molds of the inner lining of his bronchial tubes (bronchial casts). Evaluations showed extensive airway damage thought to be due … read more
