Normative values of polysomnographic parameters in childhood and adolescence: quantitative sleep parameters.

Objective: To provide normative values for sleep macroarchitecture of healthy children aged 1-18 years using the AASM sleep scoring criteria, assessing the effects of gender, age, and Tanner pubertal stage.

Methods: One-night polysomnography was performed at subjects' habitual bedtimes in 16 laboratories on 209 healthy German children.

Results: Normal values of sleep macrostructure show significant age dependencies (p<0.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin micro-binding protein 2 (IGHMBP2) on chromosome 11q13. Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel IGHMBP2 mutations.

[Objective test of smell with cognitive potentials].

Background: An objective smelling test is indicated for a reliable assessment of olfactory disorders. Usually olfactory evoked potentials (OEP) are registered. But the technique of this measurement is complicated and the generation of the OEP depends on the respiration of the subject.