18-month-old: Language and walking delay
Birth and Infancy
R was born following an uneventful pregnancy, labor and delivery. He was delayed at meeting developmental milestones. At 18 months, he was not yet walking and spoke only 5 words. The parents expressed their concerns to the PCP; they were quite concerned about his language delay. The PCP was reassuring, describing variations in child development and recommending only that they keep a close eye on R’s continued development.
What should have occurred, based on R’s developmental history? Now read what happened.
Clinical Pearl: Listen to the parents. The majority of parent concerns are correct and accurate.
Clinical Pearl: Neuromuscular diseases can involve the brain and cognition.
Continued Growth and Development
By his 2 year appointment, R had just begun walking and had gained only a few new words. By 2.5 years, he exhibited poor balance and frequent falls. He did not get up from the floor like his same-aged peers and continued to have a speech/language delay. His parents continued to express concerns and requested further evaluation. The PCP asked about family history, which was negative. The PCP then ordered a CK test, which was extremely elevated, and referred R to neurology.
Clinical Pearl: If you evaluate a child with developmental delay, do a CK.
Clinical Pearl: Increased CK (especially if CK is greater than 3x nl) indicates the need for prompt referral and diagnosis.
Following an evaluation by the neurologist, R was diagnosed with Duchenne muscular dystrophy. Following diagnosis, the parents returned to the PCP with many questions. The PCP helped the family by connecting them with other specialists and explaining what each person would do. The provider also explained how he would continue to provide R’s primary care. He gave them written information on Duchenne muscular dystrophy and contact information for support and advocacy groups.