Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis.

OBJECTIVES: To examine the relationship between delay in the age of first independent walking and cognitive impairment in boys with Duchenne muscular dystrophy (DMD) to assess how age of diagnosis might be improved. STUDY DESIGN: We reviewed the records of 179 boys with DMD evaluated by the senior author between 1989 and June 2012. Delay in walking was defined as occurring at or greater than 16 months of age. Cognitive impairment was identified by school placement in special education or lower than expected grade level during the elementary school years. RESULTS: Delay in walking and cognitive impairment are highly correlated (P ≤ .0001). If cognitively delayed, boys with DMD were 3 times more likely to have a delay in walking. This association was shown to be independent from the rate of motor degeneration (P = .9) and the age of diagnosis (P = .6, combined average = 5.1 ± 2 years). CONCLUSION: Delay in the onset of walking in boys with DMD is strongly associated with cognitive delay. We suspect that primary care givers overlook DMD as a possible cause of delay in the age of independent walking when early features of cognitive delay are also apparent. DMD should be included among those disorders causing global developmental delay. Recognition of this association could substantially decrease the age of diagnosis for many boys with DMD. We suggest that the standard evaluation for boys with global developmental delay include an inexpensive and sensitive serum creatine kinase test.

Validity and reliability of an intuitive conscious sedation scoring tool: the nursing instrument for the communication of sedation.

OBJECTIVE: To develop a symmetrical 7-level scale (+3, "dangerously agitated" to -3, "deeply sedated") that is both intuitive and easy to use, the Nursing Instrument for the Communication of Sedation (NICS). DESIGN: Prospective cohort study. SETTING: University medical center. PATIENTS: Mixed surgical, medical intensive care unit (ICU) population. INTERVENTIONS: Patient assessment. MEASUREMENTS AND MAIN RESULTS: Criterion, construct, face validity, and interrater reliability of NICS over time and comparison of ease of use and nursing preference between NICS and four common intensive care unit sedation scales. A total of 395 observations were performed in 104 patients (20 intubated [INT], 84 non intubated) by 59 intensive care unit providers. Criterion validity was tested comparing NICS WITH the 8-point level of arousal scale, demonstrating excellent correlation (rs = .96 overall, .95 non intubated, 0.85 intubated, all p < .001). Construct validity was confirmed by comparing NICS with the Richmond Agitation-Sedation Scale, demonstrating excellent correlation (rs = .98, p < .001). Face validity was determined in a blinded survey of 53 intensive care unit nurses evaluating NICS and four other sedation scales. NICS was highly rated as easy to score, intuitive, and a clinically relevant measure of sedation, and agitation and was preferred overall (74% NICS, 17% Richmond Agitation-Sedation Scale, 11% Other, p < .001 NICS vs. Richmond Agitation-Sedation Scale). Interrater reliability was assessed, using the five scales at three timed intervals, during which 37% of patients received sedative medication. The mean NICS score consistently correlated with each of the other scales over time with an rs of >.9. Using the intraclass correlation coefficient as a measure of Interrater reliability, NICS scored as high, or higher than Richmond Agitation-Sedation Scale, Riker Sedation-Agitation Scale, Motor Activity Assessment Scale, or Ramsay over the three time periods. CONCLUSION: NICS is a valid and reliable sedation scale for use in a mixed population of intensive care unit patients. NICS ranked highest in nursing preference and ease of communication and may thus permit more effective and interactive management of sedation.