Gals on tour – well there is only one girl, and it is a sleep tour so…

sleep room.jpg

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So, the two posts I have done previously have discussed sleep and mental health, and I mentioned this rare genetic syndrome 22q11.2 deletion syndrome. I thought it was probably best I elaborate regarding my involvement! Indeed, I am doing  PhD exploring the relationship between sleep and mental health in children and adolescents with 22q11.2 deletion syndrome. TICK – makes sense. How do I do that though? Well, thanks for asking.

I use a myriad of complementary techniques. I use psychiatric questionnaires and semi-structured interviews. The one we use is called the ‘CAPA’ not ‘KAPPA’ like that sport brand, but ‘CAPA.’ It is the Child and Adolescent Psychiatric Assessment. The CAPA is conducted by a trained psychology assistant with the parent or carer of the children with 22q11.2 deletion syndrome. It takes around 3 hours on average, with variance of timings due to positive responses to questionnaires! The more mental health problems, the more information and thus the longer it will be! That is where I get my psychiatric data from and some minimal sleep info. I have built on the small section in the CAPA regarding sleep but doing my very own sleep study (with significant help!)

I use sleep questionnaires to get subjective sleep perspectives from the children and the parents. I use special watches called ‘actigraphy watches’ which measure the activity and movements of children over a 2 weeks period. They are like less jazzy, glorified Fit-Bits. Cost more, look worse. The children, with assistance from parents/carers, also undertake a sleep diary during the same 2 week period. In addition to this, the pista de resistance is the polysomongraphy (PSG) or ‘sleep study.’ Yeh that is right, I used a superfluous word for sleep study. Oh yes. I do an overnight recording of brain activity, eye movements, muscle movements, heart rate and breathing with the child with 22q11.2 DS and any unsuspecting (yet consenting!) siblings without 22q11.2 DS. This is done in the home to provide a comfortable and reassuring setting, which is especially important where anxiety diagnoses and problems are high in these individuals.

Baring that in mind…this is where I begin. I am going to start blogging about all the different places I visit on my studies. The places I drive and train too, and stay over in ominous looking hotels and motels, or the reassuringly comfortable Premier Inns. I can talk car hires and the driving proficiencies, as well as bed comfort. Ratings of cars and hotels will be provided, as will little nuggets, gems if you will, of information regarding the towns, cities, villages, hamlets, hovels (joking) I visit. I have already visited some places before having this ingenious idea so please respect the following places, and my sincerest apologies for not showcasing you: Coalville, Horley, Ivybridge, Farnham, Leyland, Finchley and Worcester.

Let’s begin. Tomorrow I will showcase the beautiful ‘Market Drayton’. Holllaaaaaa Shropshire renowned party time right?

Roses are red, violets and blue, if you really love me…let me sleep through

Couple in love hugging kissing in bed

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On this fond and fruitful date, we see hoards of couples flocking to the cinemas, scrambling for tables in Pizza Express and purchasing extravagant bouquets of lustrous red-velvet roses. Or, if you and my and my partner, getting a M&S take-away and binge watching Breaking Bad. I know, so 2010. Each to their own. It is the 14th February, a day which is more renown for its night, if you know what I mean. An evening to carelessly betray bedtimes, and consume alcohol beyond ‘school-night’ levels. The night-time is full of endless opportunities.

I am used to working during the night period but I should explain as to not elude to tales of frolicking and debauchery! That would be a reveal wouldn’t it? I am a sleep researcher. I work with children with rare genetic syndromes who are at increase risk for the development of psychiatric disorders namely a 25-30% increased risk for schizophrenia. These children have a menagerie of different problems both physical and psychiatric in nature. My work looks at how sleep plays a role in the development of mental health problems in this high risk population. By looking at sleep and understanding how sleep is affected in these children, I can hopefully see how mental health problems can be managed or helped. I travel around the UK undertaking sleep studies with these children and their unbelievably forgiving and welcoming families. I measure the brain activity of these children during sleep with the aim of comparing this to children without the rare genetic syndromes. Nonetheless, this is by-the-by in this blog however. I just wanted to convince you that I knew a thing or two about sleep. I have a different focus today regarding sleep.

So, let’s talk about sleep, baby. Let’s talk about you and me.

Mum used to always say to me ‘sleep on it, Hayley.’ Whenever I worked myself up into a tizzy before bedtime thinking about exams, boys, food…you know, the usual, Mum used to always tell me that I would feel better after I slept on it. As an accepting sponge of a child, I thought that this magical sleep thing erased all emotional negativity and could cheer me up all in one night. Easy peasy. Now as a slightly less porous sponge of an adult, I realise how wrong I was…right? All my troubles couldn’t be cured by lying down with my eyes closed, dreaming of Harry Styles could it? Surely sleep isn’t magic? Well, no sleep isn’t magic. Sleep is purely science. It manifests from changes in your brain’s activity from wakeful activity which is active, and bigger, louder, to slower, softer and calmer activity: your sleep brain activity. This change allows for you to be in an ‘offline’ state. Promoting rest, replication, memory consolidation and is vital for survival. Now why is this relevant to love?

Love is all about emotions. Emotions are all about neurotransmitters. During sleep, your brain undergoes changes and changes in these chemicals called ‘neurotransmitters’ which are released between synapses. Synapses are at the end of neurons – they are the toll-booths at the end of the bridge. Bridge = neuron, tool-booth = synapse and car = neurotransmitters. Got it? Oh and we have gates at our toll-booths don’t we? The gates are ion channels. These enable the neurotransmitters to enter in and out of the synapse and off into the neuron. When you sleep, there are changes in neurotransmitter concentrations and these changes help in the formation of memories and the regulation of emotions. In people with depression and anxiety, there are noticeable changes in serotonin, one of these neurotransmitters. Sleep problems are abundant in anxiety and depression also, with a high proportion of the night being rapid eye movement (REM) sleep1. This REM sleep is a light sleep and where those vivid dreams happen which you are convinced are real. We all have them. Deep sleep is a lot shorter in people with anxiety and depression disrupting how memories are stored and how emotions are understood when awake. In natural, non-disrupted sleep, sleep acts with a filing system: it filters through all the memories and things you have learnt, looking at the detail and the emotions with the memories. It then works out what you need to keep and what you can get rid of and how the emotions fit into those memories. In people with mental health problems or those who have disrupted sleep like shift workers, new parents or people with sleep disorders, that filing system is inefficient. Memories aren’t stored properly, emotions aren’t processed and there is still rubbish filling the files, stopping clear thinking and emotional resilience.

Staying up late, ignoring your bodies signals of tiredness and drinking late into the evening can seem fun and on Valentine’s Day sure can be! Adopting these practises throughout life however can cause irreparable damage and encourage the development of both mental and physical health problems.  A consistent and maintained sleep/wake cycle with a concern and appreciation for sleep hygiene will make sure for a healthier, happier you, but can a partner or one you love help your sleep by just being there? We all know if a partner wakes up earlier than the other, this is disruptive. This is detrimental to your sleep. What if having a partner in your bed, a loved one can actually make you feel safer and help better rested sleep and a healthier night’s sleep? Some say it can!

The Social Psychological and Personality Science published study involved 698 people who were asked to say how responsive they felt their partner was and how well they thought they slept. In short, the evidence suggested interventions which worked to reduce sleep disturbances would be most effective in those individuals with responsive partners. It suggests that by having this partner, a loved one who is responsive, a safety-blanket and security is felt. Presumably, this mimics inate security felt as a child from parents. That is just my perception there.

Nonetheless, whether this is replicable and really a true representation of partner’s effect on sleep and intervention response, what we do know is that by reducing anxiety and maintaining mental health would aid in reducing sleep disturbance. If your partner is a conduit for this, then ace! This might not be the case, and this doesn’t mean those without bed partners are a lost cause. Not at all. It just suggests that there could be a benefit. Such findings can be sensationalised and media driven, a bit like our favourite lovey dovey day…Ah! It has all come back around here hasn’t it!

So, maybe not for tonight, but for all those other nights of the year, hear me bed partners out there. Take note and if you really love your other half, let them sleep through the night.

1Sleep Med Rev. 2013 Oct;17(5):377-90. doi: 10.1016/j.smrv.2012.11.001. Epub 2013 Feb 5

 

Children with CNV’s at higher risk for development of psychiatric disorders

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Mental health conversations have been fuelled with new impetus from the Government to start addressing the ever-increasing need and subsequent deficit the UK has for mental health support and treatment. Failings across the UK and councils not doing their utmost for some of the most vulnerable and debilitated individuals are now at the fore-front of what should have always been talked about. However, a lot seems to focus on those individuals which are already in the mental health system. We hear a lot about depression and anxiety, and rightly so, because of the prevalence of these. That doesn’t mean, however, that rarer conditions shouldn’t also get a ‘name-drop’. Let’s talk about schizophrenia, and let’s talk about those individuals who sometimes get missed when talking about mental health: children.

It is difficult to talk about disorders like schizophrenia, the symptoms of which are varied and wide-reaching. These can include ‘positive symptoms’ eluding to hallucinations, delusions and ‘racing thoughts’ or ‘negative symptoms’ such as apathy, mood fluctuation and absence of emotion valence. Understanding of these symptoms has been and remains to be limited despite tremendous bounds in work. In schizophrenia, early signs, or what we call ‘prodromal symptoms’ tend to be seen in early mid adolescence. A child experiencing these symptoms may or may not go on to develop schizophrenia – these symptoms are not deterministic, but in some instances can be early warning signs. Much work has been done to explore whether there are symptoms in childhood which could sound alarm-bells for individuals. These symptoms include changes in IQ and communication traits. These subtle or obvious changes could mean that children are at increased risk for schizophrenia.

The fact that these children, who do not have a diagnosis of schizophrenia but unknowingly could be at risk for its development, pertains to the reason why at the MRC Centre we work with children and adolescents with rare genetic conditions at an increased risk of developing schizophrenia. We want to understand the developmental and neurobiological pathways in individuals at high risk for developing schizophrenia to both help understanding and treatment in these particular children, but also shed light on the broader schizophrenia picture.

Both the ECHO and IMAGINE ID study in Cardiff work with a diversity of different copy number variant (CNV) genetic syndromes, but what is a copy number variant or CNV?  We work with children who have a rare genetic conditions. These genetic conditions are characterised by changes in DNA: a section of their DNA is missing or ‘deleted’ or there’s an extra bit or ‘duplicated’; like having a missing piece to a puzzle, or even having an extra bit. On average, an individual will have enough pieces of DNA to complete chromosomes, and to complete the puzzle. However some people have a bit too much or bit less. On certain chromosome, these changes can put children at increased risk for developing psychiatric and developmental disorders.

Children with a genetic syndrome called 22q11.2 deletion syndrome (22q11.2 DS) have a 20-30% increased risk for the development of schizophrenia. It is one of the highest known genetic risk factors for the development of schizophrenia. These individuals also have increased likelihood of ADHD, autism, anxiety disorders, oppositional defiant disorders, and epilepsy and sleep disturbances. This cocktail of different psychiatric problems is complemented by a myriad of physical problems including heart defects, breathing problems, abnormalities in their muscle and bone structure and cleft palate. This concoction of problems can mean that mental health problems can be exacerbated. For example, the continued and persistent sleep problems the majority of these individuals suffer from can interact with the mental health problems, making it harder to manage. If there are also physical problems, this could become an explosive mixture of problems.

Support for these families can be limited, with many health professionals not necessarily understanding the problems that they face; combine that with the wide-ranging conditions children with 22q11.2DS contend with, certain difficulties may get overlooked, with the focus being more on the obvious physical symptoms, rather than with the ‘less obvious’ mental health problems. Traditional mental health support systems can sometimes fail these families due to what some consider the added complication of the genetic syndrome. By working with these families, researching and understanding the difficulties that the mental health problems can impose upon both the child and the family itself, we can better work towards treatments and strategies to help not only these children with rare genetic syndromes, but children generally who are facing mental health problems worldwide.

Thanks to Hayley Moss for her contributions.