Sleep disorders clinical presentation

The philosophy of evidence-based practice is widely accepted, although operational and implementation issues represent major barriers. One of the significant barriers is a shortage of evidence reports on topics of critical interest, and the lack of a national infrastructure to prepare such reports. In response to this need, AHRQ has funded 12 Evidence-based Practice Centers to conduct systematic, comprehensive analyses and syntheses of the scientific literature to develop evidence reports and technology assessments on clinical topics that are common, expensive, and present challenges to decision makers. Since December 1998, 11 evidence reports have been released on topics that include sleep apnea, traumatic brain injury, alcohol dependence, cervical cytology, urinary tract infection, depression, dysphasia, sinusitis, stable angina, testosterone suppression, and attention deficit hyperactivity disorder. 

The Sanfilippo syndrome, type A presents with severe and progressive mental retardation with sleep disturbances and behavioral problems as the most prominent features. The organ enlargement and joint stiffness seen in the other mucopolysaccharidoses is not present or occurs later in life. Diarrhea can be more severe and recurrent than in the other mucopolysaccharidoses. Onset of the disorder is usually between 1 and 6 years of age. Studies of the basic defect in Sanfilippo syndrome revealed that there are four separate disorders. The type of Sanfilippo syndrome is based on enzyme deficiency. The clinical symptoms in the four types overlap. The prevalence of Sanfilippo syndrome in the Netherlands is estimated at 1 in 24,000 for three of the four types [3]. However, using all four types of Sanfilippo syndrome, the study from Australia estimates the prevalence at 1 in 60,600, which is about 2.5 times lower than that in the Netherlands [2]. The Sanfilippo syndrome, type A, is estimated at 1 in 114,000 [2]. 

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