1. Baby Claire (8 pts.) After a long struggle with infertility, Matt and Christine Hoffman are thrilled to find out they are expecting a baby girl. Christine's pregnancy and delivery are uneventful and the proud parents bring baby Claire home after a 3-day stay at the hospital. For the first few months of her life, Claire reaches all of the expected developmental milestones including rolling over, reaching for objects, smiling, and sitting up. Around 10 months of age, however, Matt and Christine notice that she Claire is not showing interest in crawling. When they try to help her stand with assistance they notice that Claire feels "floppy" and does not bear any weight on her legs. This alarms them because just a few months ago Claire's legs seemed quite strong for her age. They also notice that Claire is starting to have trouble with feeding, even though she had progressed nicely from pureed baby foods to soft chunks of food around 8 months. She now appears to choke on during meals, apparently due to difficulty with chewing and swallowing. Finally, they notice that Claire is smiling less than she used to and displays a blank expression most of the time. Concerned, Matt and Christine bring Claire to the pediatrician. After listening to Matt and Christine's concerns and conducting a brief examination, the pediatrician decides that Claire's case is more appropriate for a specialist and refers them to a pediatric neurologist. The neurologist performs a more comprehensive on Claire and finds that in addition to the symptoms noticed by Matt and Christine, Claire also shows a diminished tendon reflex when tested bilaterally on her knees and jaw. Suspecting a congenital disease, the neurologist refers Matt and Christine to a genetic counselor. After conducting testing on Matt, Christine, and Claire, he concludes that Claire's symptoms are a result of a rare hereditary disease. The genetic counselor then provides Matt and Christine with a pamphlet on the disease and the contact information for a nearby children's hospital that specializes in research on and treatment for this condition. a. Based on the description of Claire's symptoms, which muscles of her body seem to be most affected? (4 pts. total; 1 pt. per muscle type) b. Where in the CNS are the cell bodies of the neurons that directly innervate these muscles? Be as specific as possible. Simply stating the two general locations of lower motor neurons is not sufficient. (4 pts. total; 1 pt. per location)
1. Baby Claire (8 pts.) After a long struggle with infertility, Matt and Christine Hoffman are thrilled to find out they are expecting a baby girl. Christine's pregnancy and delivery are uneventful and the proud parents bring baby Claire home after a 3-day stay at the hospital. For the first few months of her life, Claire reaches all of the expected developmental milestones including rolling over, reaching for objects, smiling, and sitting up. Around 10 months of age, however, Matt and Christine notice that she Claire is not showing interest in crawling. When they try to help her stand with assistance they notice that Claire feels "floppy" and does not bear any weight on her legs. This alarms them because just a few months ago Claire's legs seemed quite strong for her age. They also notice that Claire is starting to have trouble with feeding, even though she had progressed nicely from pureed baby foods to soft chunks of food around 8 months. She now appears to choke on during meals, apparently due to difficulty with chewing and swallowing. Finally, they notice that Claire is smiling less than she used to and displays a blank expression most of the time. Concerned, Matt and Christine bring Claire to the pediatrician. After listening to Matt and Christine's concerns and conducting a brief examination, the pediatrician decides that Claire's case is more appropriate for a specialist and refers them to a pediatric neurologist. The neurologist performs a more comprehensive on Claire and finds that in addition to the symptoms noticed by Matt and Christine, Claire also shows a diminished tendon reflex when tested bilaterally on her knees and jaw. Suspecting a congenital disease, the neurologist refers Matt and Christine to a genetic counselor. After conducting testing on Matt, Christine, and Claire, he concludes that Claire's symptoms are a result of a rare hereditary disease. The genetic counselor then provides Matt and Christine with a pamphlet on the disease and the contact information for a nearby children's hospital that specializes in research on and treatment for this condition. a. Based on the description of Claire's symptoms, which muscles of her body seem to be most affected? (4 pts. total; 1 pt. per muscle type) b. Where in the CNS are the cell bodies of the neurons that directly innervate these muscles? Be as specific as possible. Simply stating the two general locations of lower motor neurons is not sufficient. (4 pts. total; 1 pt. per location)
