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Children's Medical Services - Special services for children with special needs
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Infant Toddler Development Training
Module 6, Lesson 4

Muscle Diseases that Affect the Skeletal System

Muscle diseases include muscular dystrophies such as Duchenne and Becker's previously described as well as the mitochondrial myopathies.

Intrinsic Disorders of Bone

baby laying on the floorIntrinsic disorders of the bones that result in brittle bones include osteopetrosis and osteogenesis imperfecta (OI). Other causes of brittle bones are osteopenia of prematurity, medications taken for the control of seizures, and brittle bones that occur in children who are non-ambulatory. Non-ambulatory children who might have brittle bones include some who have cerebral palsy and neural tube defects.

  • Osteopetrosis is a genetic disorder. In this disorder, there is a build-up of bony tissue that results in death.
  • Achondroplasia is a genetic disorder that results in extremely short stature, large head, and short limbs. Cognition is usually not affected however, there are usually delays in motor skills. There are also medical risks for apnea, compressed spinal cord, and sometimes hydrocephalus. Professionals who often attend to this condition include a primary pediatrician, developmental pediatrician and a pediatric nutritionist.
  • Osteogenesis Imperfecta (OI) is a genetic disorder resulting in very brittle bones whereby even normal activity and pressure can result in breaks. Osteogenesis imperfecta varies from mild to very severe. In extreme cases, a child may have several bone breaks while still in utero. A cough or rolling over in bed may cause a break. In these severe cases, a family may need to put special padding on the floors of their home, eliminate or pad metal doorjambs, create roll under counters, and make numerous other modifications to protect their child. The condition is a result of either too much or too little collagen (elastic substance) in the bones. The condition may be treated with medications such as bisphosphonates and forteo to make the bones stronger. The insertion of surgical rods is another treatment that is used occasionally for this condition. To learn more, you may explore information through the Osteogenesis Imperfecta Foundation
  • Osteopenia: This orthopedic problem is a loss of bony tissues. The condition may result from non-ambulation in children who have cerebral palsy or neural tube defects. Osteopenia occurs in very premature infants as a result of nutritional problems.

Consider how the ITDS could work with a child with OI or one of the other rare conditions described above. Do you have some suggestions?


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