Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy

Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children

“…The SNIP and PImax ICC values (higher for SNIP than PImax measurements) were consistent with those of CoV. The cognitive impairment that may be present in DMD may explain the higher variability in performing PImax manoeuvres [20], while the excellent SNIP repeatability in our study may be ascribed to the fact that sniff manoeuvres were performed with a visual feedback and that o10 manoeuvres were performed. Indeed, a plateau in pressure is reached after five to 10 sniffs in most individuals and a more repeatable measure of maximum SNIP is obtained with .10 sniffs [13].…”

“…SNIP was measured in an occluded nostril during a maximal sniff through the contralateral nostril; PImax was measured against an obstructed mouthpiece with a small leak to prevent glottic closure, at functional residual capacity (FRC), maintaining maximal pressure for o1 s, and slow VC was measured according to standard procedures [12] using Hyp Air Compact (Medisoft, Dinant, Belgium). At least 10 (most often, [15][16][17][18][19][20] maximal sniffs, performed from FRC [13], and at least five PImax measurements were obtained. The highest SNIP (from a sniff ,500 ms in duration) and PImax were used.…”

Induced pluripotent stem cells for modeling neurological disorders

“…Partial expression or total loss of the dystrophin cause weakness and progressive degeneration of skeletal muscles, reported symptoms of the DMD, whose prevalence is high, affecting approximately 1 in 3300 males [73] . Dystrophin provides support between the actin filaments and cell membrane (sarcolemma) in muscle cells but may also be found in other cellular types, such as in the retina, liver, heart, brain, etc.…”

Acetylcholine, GABA and neuronal networks: A working hypothesis for compensations in the dystrophic brain

“…Various studies have shown that verbal IQ is more affected than executive IQ (Prosser et al, 1969;Marsh and Munsat, 1974;Cotton et al, 2001), although some studies have failed to demonstrate a significant difference between verbal and executive IQ (Donders and Taneja, 2009;Wingeier et al, 2011).…”

“…Moreover, patients lacking the Dp140 dystrophin isoform exhibited greater cognitive problems (Wingeier et al, 2011).…”