Speaker: Jaqueline London, Emeritus Professor, Université de Paris, France.
Date: Wednesday, 21 April 2021, 5.0 p.m, per Zoom.
Down syndrome (DS also called trisomy 21) is characterised by many developmental abnormalities including mental retardation which could be related at least to sleep disturbances. Sleep disturbances both in early childhood of persons with DS have been mostly underestimated especially on their consequences on physical and neural development and functioning.
When a person sleeps it is mostly the sleep quality which is important and can be defined by the number and the length of the various stages of the sleep (called SWS: slow wavelength sleep or NREM) and by the number of REM (Rapid Eye Movement). Sleep affects learning and development in human and in other animals and during sleep many very important neuronal pathways regarding growth hormone, melatonin synthesis which is related to acetylcholine synthesis and uptake, metabolisms of dopamine, glutamate, serotonin, calcium, adenosine and glucose. All these molecules contribute to the required synergy for an active and productive day life. Thus bad sleep may contribute to the behavioural and cognitive deficits of patients with mental retardation especially in the early childhood.
Although sleep disturbances in patients with DS have already been reported in the early 70th, not enough attention has been used to improve the sleep quality of DS persons. More recently, the attention of sleep disturbances in the general population especially for OSA (Obstructive Sleep Apnea) has been pointed and devices for this condition are now well used and also at a moderate rate for persons with DS. Sleep apnea is characterised by increased arousals and is mainly due to the fact that when throat deepens during sleep, the airway muscles in the throat also deepens thus preventing the patient to breath normally. Many international recent reports have shown that 60% of the children with DS syndrome aged even 4 months have OSA even if they do not snore and if their parents report not to have any sleep problem.
These patients have not only sleep apneas but also sleep fragmentation (frequent sleep arousals without apnea) and also sleep disorders breathing (SDB) which are important for normal development.
We will give some new practical information to better handle with these problems in the population with DS according to ages. A specific mention will be given also to the relation between apnea and COVID-19 in these days of pandemic.
Jacqueline London (Emeritus Professor at University Paris-Diderot) has completed her PhD in the Pasteur Institute under the direction of Pr. Jacques Monod and Professor M. Goldberg in the field of protein folding and bacteriology. She moved to immunology in Necker’s hospital under the direction of Pr JF Bach and then was a visiting scientist at NIH.
After coming back to Paris she settled a laboratory in molecular biology at the Blood Center and cloned glycophorin A and B (13 papers). She then moved again to Necker’s Hospital where she joined the group working on Down syndrome (Trisomy 21) and published some 35 papers on different aspects of trisomy 21 using transgenic mice for some chromosome 21 genes: APP, CBS, DYRK1A and SOD1.
She published the first research papers on sleep in animal models for DS and give several talks on sleep problems in DS which were not recognised as a real phenotype in the early 2000.
Since many years she tried to push the correlation between Alzheimer disease (AD) and Down syndrome (DS) and recently worked on neurotransmitters in some transgenic mice APP, and DYRK1A. She was also teaching Parkinson disease and Alzheimer disease and protein aggregates since many years.
She settled in 1990 AFRT (French Association for Research on Trisomy 21) and is now AFRT Vice-president and initiated in the 2005 the international day for Trisomy 21 which is now recognised as World Down Syndrome Day (WDSD).