Respiratory patterns during sleep in Down's syndrome: importance of central apnoeas

Abstract

SUMMARYObstructive sleep apnoea episodes have been reported repeatedly in Down's syndrome (DS) patients as a consequence of the presence of predisposing malformations or intercurrent pathology of the upper airways. There are no data on respiratory patterns of uncomplicated Down's syndrome subjects. In order to evaluate the eventual effects of central nervous system (CNS) impairment on respiration in DS, we studied the respiratory patterns during sleep of a group of 10 DS subjects, aged 8.6-32.2 y, without relevant upper airway pathology. In order to control the possible effects of sleep structure and mental retardation on the results obtained, we compared the findings in DS with those obtained from a group formed by subjects affected by fragile X syndrome (six males and one female, aged 10.0-15.42 y), another genetically determined type of mental retardation. Sleep structure was similar in both groups; however, DS subjects showed significantly higher indices of central sleep apnoea and of oxygen desaturation than fragile X patients (P<0.005). As far as DS individuals were considered, a significant preponderance of central, as opposed to obstructive, sleep apnoeas was found (89.4% vs. 9.4%, respectively; 1.2% were mixed) which showed a significant age-related increase. Central respiratory pauses were mostly preceded by sighs, which occurred more frequently during sleep stages 1 and REM, and were often organized in long sequences of periodic-like breathing. During REM sleep, they were less frequently preceded by sighs and by body movements than during NREM sleep. Obstructive sleep apnoeas occurred more often during REM sleep and were more rarely preceded by sighs or by body movements. Both central and obstructive apnoeas induced significant oxygen desaturation in 50-69.6%. Sleep structure was not significantly modified by apnoeas and oxygen desaturation. We hypothesize that the increase in central sleep apnoeas is related to a dysfunction of the central respiratory control at a brainstem level in DS. brainstem, central sleep apnoea, Down's syndrome, obstructive sleep apnoea, respiratory pattern, sighs disturbances during sleep and morphological abnormalities

Sleep related breathing disorders in adults with Down syndrome

“…In fact, Ferri et al (1997) studied a selected group without obvious abnormalities of the upper airways, while in the current study the nasopharyngeal status of the individuals was not investigated. Telakivi et al (1987) showed that nocturnal periodic breathing was especially present in individuals aged above 40 years (mean age 52.7 years), while the mean age of our participants was 38.6 years.…”

“…Recently Ferri et al (1997) These variable results can be explained by different selection criteria and by the small samples sizes.…”

“…Levanon, Tarasiuk and Tal (1999) found that children with Down syndrome showed sleep abnormalities characterized by increased fragmentation, frequent awakenings and arousals and periodic leg movements which were only partially related to obstructive sleep apnoea syndrome. On the other hand, Ferri et al (1997) recently showed that, among people with Down syndrome without risk factors for obstructive sleep apnoea syndrome, it still remains very frequent. Finally, Telakivi, Partinen, Salmi, Leinonen and Harkonen (1987) found that nocturnal periodic breathing was the main disorder among adults with Down syndrome, and that it was strongly correlated to chronological age.…”

DSCAM Deficiency Causes Loss of Pre-Inspiratory Neuron Synchroneity and Perinatal Death

“…Furthermore, it would be plausible that the overexpression of DSCAM on chromosome 21q22 could contribute to some of neurodevelopmental defects in patients with Down syndrome, such as their central nervous system-dependent respiratory defects (Ferri et al, 1997(Ferri et al, , 1998 and/or mental retardation itself. Additional studies are required to investigate these possibilities.…”

Sleep Disorders in Mentally Retarded Children

“…При полисомнографическом исследования у детей обна-руживают снижение доли фазы быстрого сна в общей структуре сна и малое число сонных веретен во вто-рой стадии фазы медленного сна [29]. Пациенты с син-дромом Дауна также имеют высокую вероятность рас-стройств дыхания во время сна, что выражается в форме обструктивных и центральных апноэ, а также синдро-ма гиповентиляции [30,31]. При этом обструктивные апноэ во время сна регистрируют более чем у 1/2 детей с синдромом Дауна [32].…”