Tags: Chronobiology, Circadian rhythm, Diagnosis, Sleep disorder, Sleep research
Funding of sleep research by the National Institutes of Health (NIH) is prioritized according to the National Sleep Disorders Research Plan. The plan resulted from 1993 legislation establishing the National Center on Sleep Disorders Research with the mandate, in part, to:
- Conduct and support research, training, health information dissemination, and other activities with respect to a basic understanding of sleep and sleep disorders, including research on biological and circadian rhythms, chronobiology, and other sleep-related topics.
The first such plan was dated 1996. The second and current one is from 2003: http://www.nhlbi.nih.gov/health/prof/sleep/res_plan/sleep-rplan.pdf
The present Sleep Disorders Research Advisory Board, chaired by Charles A. Czeisler and with Michael Twery as Executive Director, has been working for a year or so on a revision. The 2011 research plan will provide a guide for future scientific sleep and circadian research, both basic and clinical.
While the 2003 plan is organized under such headings as Basic sleep science, Enabling technology, and Pediatrics, the 2011 plan will be organized around research goals.
The draft of April 2011 contains five goals. They are concerned with, in short version:
- Sleep and circadian functions and mechanisms
- Factors contributing to sleep and circadian disorders and disturbances
- Prevention, diagnosis and treatment of sleep and circadian disorders and circadian disruption
- Dissemination of sleep and circadian research findings
- Sleep and circadian research training, to accelerate the pace of discovery
There appears to be a greatly increased emphasis on circadian disorders and research in this draft. The word ‘sleep’ appears seldom alone; it’s always ‘sleep and circadian’.
Those of us with circadian abnormalities are perhaps most happy with goal 4. Health care professionals, educators, policy makers and the general public are at present largely unaware of the results of research to date, and the resulting ignorance leads to misdiagnosis of most of us. The research community knows a great deal more than the medical community does, and dissemination of that knowledge should have high priority.
Next post: 64. Circadian Sleep Disorders Network
Tags: Adolescent, Depression, Diagnosis, Non-24, Sleep disorder, Treatment
I’ve been reading an interesting article on a case of psychiatric misdiagnosis of N24 in a 14-year old. This poor kid was given a long list of severe and pejorative psychiatric diagnoses, all of which resolved completely when his circadian rhythms were normalized with melatonin treatment. He had dropped out of school for two years and was sent to a child psychiatric hospital. After treatment was able to return to school and do well. This case shows how easily N24 (and DSPS) can be misdiagnosed. The boy was also lucky he responded to melatonin as many N24s do not.
Here is the description of his case before proper diagnosis and treatment:
During the 4 years before referral,
the patient suffered from major functioning difficulties
including conflicts with teachers, parents, and peers. He
was described by a licensed child psychologist as being
extremely introverted with severe narcissistic traits, poverty
of thought, and disturbed thinking, including
thoughts with persecutory content and self-destruction
that led to a paralyzing anxiety, anhedonia, social isolation,
and withdrawal. Assessment of learning disabilities
revealed difficulties with written language and poor
visual and auditory memory. Assessment also revealed
above-average performances in verbal comprehension
and abstract reasoning.
Two years before referral, the patient dropped out of
school and was sent to an inpatient child psychiatry center.
Three months of psychiatric evaluation yielded diagnoses
of atypical depressive disorder with possible
schizotypal personality disorder. He was described as
sleepy and passive, especially in the mornings.
The patient was diagnosed using actigraphy (a wrist monitor that measures movement) and with 24 hour sampling of melatonin and temperature rhythms. This is his actigraphy chart showing the classic N24 pattern in which the waking period shifts later each day. The black peaks on the chart show movement, indicating the time of day or night during which he was awake.
Treatment with 5mg of melatonin (a large dose) at 8pm resulted in a normalization of his circadian rhythms within a month.
Here is how he was described after proper diagnosis and treatment:
The patient returned to school after a 1 years absence
and succeeded in filling the gaps of missing studies. At the
end of the first semester, his school report showed excellent
results. His parents also reported an improvement in
the patients relationship with his family and peers.
In a psychiatric evaluation by licensed psychiatrists,
none of the previously described severe diagnoses were
present, and the boy showed no evidence of psychopathology,
as was previously thought.
One wonders how many adolescents — and adults — are misdiagnosed with various severe psychiatric disorders simply because no one looked for a circadian rhythm sleep disorder. The case was reported by Yaron Dagan and Liat Ayalon two of the best researchers on the clinical manifestations of N24 .
1. Dagan Y, Ayalon L. Case study: psychiatric misdiagnosis of non-24-hours sleep-wake schedule disorder resolved by melatonin. J Am Acad Child Adolesc Psychiatry. 2005 Dec;44(12):1271-5.
–Posted by LivingWithN24
Next post: 63. Sleep research in the USA
Tags: Body clock, Circadian rhythm, Depression, Diagnosis, Genetic mutation, Treatment
Which came first: the chicken or the egg? The circadian rhythm dysregulation or the depression?
Traditionally, it has been claimed (assumed) that depression causes sleep problems including sleeping too early (the thinking in the 1980s) or too late (more recently). We who have circadian rhythm disorders (CRDs) have always thought that depression and other mood disorders can be a result of circadian rhythm misalignment or disruption, rather than a cause.
Now a review* suggests that polymorphisms in some of the 18 clock genes may cause both depression and CRDs.
- [T]reatment strategies or drugs aimed at restoring ‘normal’ circadian rhythmicity may be clinically useful.
- [W]e may predict that new antidepressant drugs will emerge that (…) target and correct abnormalities in the circadian timing system.
A recent careful study of patients with delayed sleep phase syndrome (DSPS) showed that
- patients who also showed depressive symptoms had an even later peak in the 6-sulphatoxymelatonin rhythm than patients with no depression.
Even research on rodents provides evidence
- for a role of clock genes in behaviours that are relevant to mood disorders.
Much of the genetic info in this review goes way over my head, but this bit sounds reasonable:
- The endogenous rythmicity within the master biological clock in the brain … is generated by interlinked positive and negative feedback loops of gene transcription and translation. If there is to be a role of circadian rhythmicity in mood disorders then it almost certainly involves these genes….
I’m hoping that these ideas represent a turning point in circadian rhythm research. I hope that, here on in, the researchers search for realistic and practical treatments, as well as useful diagnostic tests, for CRDs.
* Kennaway, David J. (2010) Review: Clock genes at the heart of depression. Journal of Psychopharmacology Vol. 24 No. 5
The illustration is borrowed from a blogpost by Jeff Pruett.
Next post: 60. Charting the Course of N24
Tags: Body clock, Diagnosis, DSPS, Genetics, Guest blogger
The body clock
A new list member wrote that his wife doubts the validity of Delayed Sleep Phase Syndrome, believes that his diagnosing doctor is a quack and believes that forcing oneself up early – often enough – will solve the problem.
Breann, with her knowledge of biology, responded:
Hi __, nice to meet you
It might help if your wife had a basic understanding of genetics. I’m not trying to be flip, many people don’t; they’re lucky if they get some Mendel in high school, and unfortunately, his “one gene, one trait” discovery is not true for everything. (The last time I checked, there were at least ten genes thought to be involved in the sleep-wake cycle. Whew!)
In my experience, it has simply never occurred to most people that they wake up or go to sleep for any reason other than being tired or not being tired; i.e. they believe it is mostly a conscious choice. They are unaware that their body has many complex and delicate systems keeping track of the time of day, how long they’ve been awake, how much or little food they’ve consumed, and so forth. Sometimes just teaching people that these seemingly simply urges aren’t TRULY conscious choices for anybody is a great help in their understanding that some or all of these systems can “go haywire” due to using a different set of instructions (different forms of the genes that regulate the processes).
Something that really worked with my friends and family was for me to simply sit them down and ask them flat-out: “You have known me my whole life. Do I seem like the kind of person who is going to malinger for decades just to get out of doing things that you KNOW I enjoy doing? Think about this logically. Am I that kind of person? Do you think I’m faking when I’m upset about getting fired, or missing an important appointment? Either your judgement of me over the last 20 years is totally wrong, or I am insane and need a lot more help than a sleep doctor.”
That flipped a light switch for them, I think. It was still hard for them to accept, and still is in some cases, but it at least got them to consider the fact that if there isn’t something wrong with me physically, than that leaves me as someone who has deliberately, yet unconsciously, set out to ruin my own life. That makes no sense, if they take a minute to think about it, and not just have a knee-jerk reaction.
Hope this helps!
Next: xlix. 2009: sleep logs
Tags: ADHD, Diagnosis, Doctors, Sleep diary, Treatment
Finding a doctor
For most of us, the starting point is our “family physician”. At any mention of “tired” or sleep problems, s/he will first check the routine things: iron, thyroid etc. This is wise but can be time-consuming. If medication is required for these things, one has to check back several times before the blood tests are pronounced satisfactory.
Do you and your doctor know each other well? Will your doctor take it kindly if you deliver some print-outs/URLs and suggest that not “just any sleep doctor” will be able to help you? Will your doctor do the research and find the right specialist or clinic for you, or should you be doing that yourself?
You will probably need an overnight sleep test to find out if you (also) have apnea or narcolepsy. Those are the things that “just any” sleep clinic should be able to rule out or determine and treat.
But if you are quite sure that you have a circadian rhythm disorder, you’ll want to be referred to a specialist or clinic which has expertise and experience in those disorders. From the experience of myself and others, I can’t stress too strongly how important this is. To save years of running around, you need to be able to present your sleep diaries to a person who will recognize the problem.