XYYstudy day report

P a g e i

Emerging findings fromthe Sex ChromosomeTrisomy study

Gaia Scerif, alecturer in theDepartment ofExperimentalPsychology inOxford, is adevelopmentalpsychologistinterested inattention andbehaviour andmemory in theclassroom. Whenshe and Victoria

Leggett, the study researcher directly involvedin meeting all parents, looked at everythingpublished on boys who had been diagnosedwith XYY, they found quite contradictoryfindings. Follow-up studies published around thesame time on boys who had been diagnosed inthe same way by screening every newbornbaby had quite different findings. Why? Theydon’t know, although one reason might be thatthe groups studied were small and the boyswere tested in different ways.

The Sex Chromosome Trisomy study wasdesigned to address these problems. Therewould be enough children studied – 100 boyswith XYY, 50 diagnosed before birth and 50diagnosed in babyhood or as children, as wellas children with XXX and XXY. Wherepossible, a brother or sister of the same sex

Families with a son with XYY – a single extra Y chromosome – met experts andresearchers at a study day in Oxford, UK in April 2008. They heard what is alreadyknown from research conducted on boys and men with XYY who were identified inthe 1960s and what is starting to emerge from a follow-up study of the developmentof children with an extra sex chromosome, launched last summer in the UK. This study will refine and update knowledge about boys and girls aged between 4 and 16 with Triple X, XYY and XXY (Klinefelter syndrome), and in particular what is known about their behaviour and learning.

attention and controlling impulsive actions andsaid that this could create difficulties at homeand in the classroom.

The researchers asked questions on attentionand hyperactivity. Does your son seem to listento what is being said or not? Does he have anydifficulties in organising tasks and activities? Is healways on the go? One parent described theirson’s activity level as like having two packs ofDuracell.

Their findings show both how the boys do onaverage and also how they range – howdifferent the children can be from each other.In terms of attention, the boys had significantlymore difficulties than boys without XYY. Thesedifficulties were true in all the subscales ofinattention and hyperactivity. Upto 50 per centwere at high risk of ADHD (attention deficithyperactivity disorder); a large proportion alsohave difficulties with impulsivity and for theseissues there were no differences between boyswho were prenatally and postnatally diagnosed.

A score above 70 on the graph would be inthe range of clinically diagnosable ADHD. Mostof the brothers without XYY (green line)scored around 50, so they had fewer problems.Among the prenatally diagnosed boys (blueline) there was a big spread, with one boy in

w w w . r a r e c h r o m o . o r g

would act as a control, for comparison. Thestudy would use standardised tests of language,cognition, behaviour, movement, communicationand socialisation. They would aim to identifyboys’ strengths as well as their difficulties andthey would compare the group diagnosedbefore birth with those diagnosed in childhood.

As a starting point the researchers have askedparents for as much information as they cangive - on attention, communication, behaviour,movement, socialisation, dealing with theenvironment, the classroom and handling fears.They have asked about any impact of difficultiesin the son on the mother’s wellbeing.

Part-way through the study, what have theyfound? That these boys have both greatstrengths and weaknesses. On the one handparents have said that their boys are caring,kind, creative, sporty, very good at computingand humorous. On the other hand they tendto have behavioural problems that are oftendue to frustration, difficulties with socialisingand communication and difficulties at school.

Attention and learningGaia explained that everyone has an intuitiveidea of what it means to pay attention. Yetattention actually has multiple components: itneeds sustaining for a long period of time, itmeans not being distracted and being able toinhibit impulsivity. Most parents agreed thatboys with XYY may have difficulty with paying

�The boys have both great strengthsand weaknesses.�

�Attention and hyperactivity seem tobe weaknesses, although there isvariability.�

P a g e i i

w w w . r a r e c h r o m o . o r g

the 40s (few problems) and another in the 80s with a lot of inattention problems. Thepostnatally diagnosed boys tended to havemore difficulties than their brothers but somewere well within the normal range while otherswere in the clinical range. So prenatally andpostnatally diagnosed boys had moreinattention problems than boys who did nothave an extra Y but there was a lot ofvariability.

BehaviourThey asked questions about behaviour. Is yourchild impulsive? Does he act without thinking?Does he avoid social interactions? Does hehave temper tantrums? Is he stubborn orsullen? Does he have a difficult time payingattention?

On average, they found that boys with an extraY tended to show more clinically significantbehaviours than boys without and this wasmore so for postnatally diagnosed boys.

LearningThey asked what kind of learning provision thechildren need and what they have. Oneindication is how many of them are on theSEN register. They found that approximatelyhalf the prenatally diagnosed boys were on theSEN register and half were not. For the boyswho were postnatally diagnosed theproportion on the SEN register was largerwhile only one of the brothers without XYYwas on the SEN register.

What kind of schools do they attend? The

researchers found that a smaller proportion of the prenatally diagnosed group than thepostnatally diagnosed group attend a specialschool or one with a special needs unit. Among the brothers without XYY only a smallproportion are in a special school and most are in a mainstream school. Overall, around 40 per cent of both prenatally and postnatallydiagnosed boys with XYY are in mainstreamschools.

To sum up, the researchers found a mixedpicture in terms of strengths and weaknesses.Attention and hyperactivity seem to beweaknesses, although there is variability, but thismay impact on behaviour and may be reflectedin the need for learning support.

VictoriaLeggett, aresearcher at the Departmentof ExperimentalPsychology in Oxford,presented theteam’s findingson motor skills,communicationand socialisation.

Motor skillsThe researchers asked questions about bothfine and gross motor skills such as: Can theyfasten their buttons? Can they put a key in alock and turn it OK? Can they manipulate smallobjects? How are they at running? Do theyoften trip over? Can they ride a bike?

Overall the boys did have more difficulties withboth fine and gross movements than onewould expect and there was no difference

XYY study day report

�All the boys definitely want to bepart of the group.�

between the prenatally and postnatallydiagnosed boys.

How might this impact on communication andsocialisation skills? For example, articulationmight be quite important and might be linkedto motor control. Victoria explained that bysocial skills we mean the ability to understandan interaction between two or more peopleand this can be understood on many levels.‘Firstly, if I point out something to you and amlooking at you, that you have the sameexperience as I do. Secondly, that everybodydoesn’t have the same information so whenyour son with XYY comes home from school,whether he can tell you what he did all theway through or whether he misses out thingsthat he did at school, thinking that you alreadyknow exactly what he knows.’ She pointed outhow difficult social rules can be - being able toqueue, when to say goodbye, when to sayplease and thank you. Adults take social rulesfor granted but boys with XYY may need helpwith learning them. They may not read bodylanguage correctly or recognise emotions frompeople’s expressions. They might find it hard tounderstand that others don’t know what theydo – so they step out into the road, thinkingthat the approaching car knows what they areabout to do. They might not discriminatebetween people and use the same sort oflanguage when talking to a teacher as theywould when chatting to a friend. They mightnot notice if you’re upset or getting boredbecause they have a difficulty with reading bodylanguage. One point with all the boys was thatthey do definitely want to be part of the groupand are interested in talking to people but theymay struggle to find the right way to join in.

CommunicationThe most important thing in communication is

� If one considers whether they areconsiderate, kind and helpful or howmuch they think of others – they are.�

�They are definitely good at a lot ofthings.�

XYY

P a g e i i i

He explained the origins of his interest inchildren’s growth. As a young paediatrician hehad the opportunity to work with Dr ShirleyRatcliffe on following up the babies identifiedwith an extra sex chromosome from 34,000consecutive newborn babies screened over 13 years in Edinburgh. The study showed thatchromosome variations are far from rare,affecting one person in 150, with sexchromosome variations affecting one in 250. So around 1:1,000 boys has an extra Y (XYY) and 1:1000 girls has Triple X (an extra X chromosome). Boys with an extra Xchromosome are even more common at 1:700 or even less. But what difference doesthe extra sex chromosome make?

GrowthAt birth, boys with XYY in the Edinburghgroup were the same size as XY boys (thecontrols). Growth in the early years continuesfairly normally, but from the preschool yearsonwards most XYY boys are taller thanaverage and a few are above the usual heightrange for their age. In terms of final height, theaverage for boys is about 176cm (5' 9–10").The average height for boys with an extra Ychromosome is about 188cm (6' 2") so theygain about another 13cm–15cm (5"–6").Throughout life children have lots of littlegrowth spurts, with an extra spurt at puberty.Boys with an extra Y chromosome growsteadily faster throughout childhood and areusually already around 10cm (4") ahead beforetheir puberty growth spurt, which comesslightly later.

What about body proportions? Weight is muchthe same; most of the height comes from morerapid growth in the legs, not in the spine orneck. The shoulders are the same width as inXY boys but the hips a bit wider. The headcircumference is exactly the same. But theseare subtle differences.

QuestionsQ: When my son was diagnosed byamniocentesis the geneticist said thatbecause we are both tall, he would reach7 foot (2.13 metres), but an injection couldbe given behind the knee to control

w w w . r a r e c h r o m o . o r g

which is important. It’s easy to portray anegative picture and they are definitely good ata lot of things.

ConclusionIn conclusion, the boys with XYY do scoresignificantly different to sibling controls. Butoften their scores fall within the normal range.So they might score a little worse but usuallyit’s within what one might expect within thegeneral population. Difficulties with temper anddifficult behaviours are often the result offrustration.

On a positive note, many parents have said theboys are happy, they’re caring, they’re sporty,they’re creative and that they are really lovelyboys.

Hormones, Growth,Puberty and Fertility

Gary Butler isnow Professorof Paediatricsand Growth atthe Universityof Reading. Hepractises at theRoyal BerkshireHospital inReading and atGreat OrmondStreet Hospitalin London.

to convey what you mean. So the researchersasked: Do they understand the differencebetween cold (unfeeling) and cold (needs to put his coat on)? Do they pick upconversational overtures? Do they askquestions over and over even when they havethe answer? Do they smile appropriately whentalking to people?

Boys with XYY did struggle a bit more and onaverage there was no difference betweenprenatally and postnatally diagnosed boys. Themajority of the controls score above 55 and alot of the prenatally diagnosed boys also fallwithin that range and are doing fine. A lotmore of the postnatally diagnosed boys arestruggling more with communication and it’sinteresting that with the prenatally diagnosedboys a lot fewer needed speech therapy.

SocialisationThey asked whether boys consider what others are interested in when talking to them.Whether they use words to express feelingslike happiness or concern? Do they share thingswithout being asked? Do they say sorry whenthey hurt others’ feelings?

The boys with XYY did show poorer averagesocialisation than one would expect across allthe subscales and there was no statisticalsignificance between prenatally and postnatallydiagnosed boys. Yet if one considers whetherthey are considerate, kind and helpful or howmuch they think of others – they do really well,

�Many of you have said the boys arehappy, they’re caring, they’re sporty,they’re creative and that they are reallylovely boys.�

�Difficulties with temper and difficultbehaviours are often the result offrustration.�

XYY study day report

XYY study day report

P a g e i v

growth. Our son is now 7 years old andalready 4' 7" (1.40 metres). Recently agrowth specialist said that our only optionis to bring puberty forward. That seemslike dabbling with nature but we areconcerned whether our son will have theemotional maturity to deal with being sotall.

A: It would be highly unusual to reach sevenfoot. We do sometimes give treatment to bringpuberty forward a little sooner by giving naturalamounts of the male hormone testosterone.This may reduce height by a couple of inches.The ‘injection behind the knee’ is an operationin which orthopaedic surgeons use a fine drillto take out the growing points above andbelow the knee. It’s not particularly invasive butyou would only do it when you don’t want anymore growth.

Q: When do boys with XYY stop growing?About 18?

A: A bit later than average. Most boys stop onaverage around 17 to 18, depending on thetiming of puberty. A boy who goes through anearly puberty will stop growing earlier and onewho goes through a late puberty will stop later,whether he is XYY or not.

Q: As a father, I’m very tall, but my wifeisn’t. Is he more likely to take after me?

A: The link with family height remains. If yourfamily is short, your son is likely to be tallerthan yourselves but if you are a tall family, he’llbe that much taller. We usually assume thateach parent has equal input but if one parent istaller than the other it depends whether thatparent’s genes are a stronger influence on thechild or not and whether genes on the Ychromosome are controlling growth.

Q: If a boy is already going throughpuberty and suddenly growing veryrapidly, can you stop any further heightgain?

A: By the time they are going through pubertyit’s too late to use hormone treatment. If youwant to restrict height, you have to take actionearlier or opt for the knee operation.

Q: My son doesn’t seem to be particularlytall, although my husband is 6' 1" (1.85m)

and I’m fairly tall. But he is 11 and seemsto be average in his class.

A: He is likely to have a bigger than averagegrowth spurt and end up above average. If he’saverage at 11 and has not yet gone throughpuberty he is unlikely to end up more thanupper normal in height.

Q: Is every boy with XYY taller thanaverage?

A: Not necessarily. The average XYY boy is 5"(13cm) taller than his father, one presumesbecause of the growth genes on the Ychromosome.

Q: I’ve read that it’s not hereditary but myhusband’s great-grandfather was 6' 8"(2.03m) and my daughter’s quite worried.

A: Apart from the genes on the Ychromosome, there are many other genesinvolved in height. Picture your own family andthe spread of sizes even in your first-degreerelatives and you can see what huge variationsthere are.

Q: My son has had pain in his knees andlast year in his hips and there was someconcern that it might be Perthes disease.He was 6 last year.

A: Hip problems can sometimes manifest aspains in the knees. If there’s no evidence ofinflammation and the joints are otherwisenormal after a check-up, it may well be growingpains and simple painkillers are all that’sneeded.

Q: During his many growing spurts, my sonhad a lot of cramp as well as growingpains. Is that typical?

A: It may be. It’s clear that there are lots ofgrowth spurts throughout childhood and theyare bigger in XYY boys. Growth spurts canhurt, especially when you’ve just gone off tosleep and your growth hormone switches on.But we don’t know why they hurt!

Puberty and fertilityPuberty is essentially normal. We rarely comeacross any problems associated with puberty inboys with an extra Y chromosome. Normallywe see testicle development around 11¾,which is about six months later than in XYboys but well within the normal range. Pubichair development is a little later than in XYboys, occurring on average at 12½ and in XYYboys at 13¾, but within the usual range.Testosterone levels before and during pubertyare all entirely normal.

What about fertility? Looking at a Japanesestudy of 1000 men who presented to aninfertility clinic, six per cent were found to havea chromosome variation but the commonestwas Klinefelter’s syndrome (XXY). Only a tinyproportion – 0.3% – had XYY and this couldbe due to other reasons than the chromosomevariation. The simple message is that pubertyand fertility are within the normal range.

QuestionsQ: My son is only nine and we’ve noticedthat he’s started growing pubic hair. He’shad tests that show that he isn’t goingthrough puberty yet. Is this normal?

A: It may be; there are many possible reasonsfor getting pubic hair. It would be worthwhileseeing a paediatrican to get that checked out.

Q: I was told by my health professionalthat puberty is very much delayed. Howcan we get the right message across andspread the XYY word?

A: Doctors are supposed to practise on ascientific basis. The correct answer is thatpuberty in XYY boys is on average late normal.

LearningIn terms of reading, one boy in six in thegeneral population needs help while about half the XYY boys in the Edinburgh studyneeded help to get going with reading. As formathematics there were no problems. At age13, the boys with XYY were scoring betterthan the control boys. Standard IQ tests at 7and 12 showed the average for XYY boys wasover 100 and well within the normal range.

In terms of educational outcome, of the 17

w w w . r a r e c h r o m o . o r g

� In a crowd of 80,000 male footballfans watching Chelsea play ManchesterUnited last night, there would be 80 menwith an extra Y chromosome.�

XYY study day report

P a g e v

boys who were followed up, two went touniversity and three went on to furthereducation colleges. There was a wide range of employment: some ran businesses, someworked in service industries, others in the armyor in community service, all very much whatone would expect. The comment made by Dr Shirley Ratcliffe at the time was that therewas some experience with multiple changes ofjob but no increase in the level ofunemployment.

QuestionsQ: In our experience, early diagnosis isvery important not for medical reasonsbut for education. My son wasn’tdiagnosed until he was 14 when we askedfor a chromosome test and the result isthat he’s missed most of his secondaryeducation. He was constantly excludedfrom school because we and othersweren’t aware what was going on.

A: Having a chromosome test is a difficultdecision, because labelling can be both helpfuland unhelpful. Our experience in the Edinburghstudy is that the boys who needed extra helpfor reading were picked up by the schools whodidn’t know the diagnosis. Ideally that’s whatshould happen – the educational processshould be sufficiently sensitive to provide thesupport that children with difficulties need.

Q: It was the social difficulties more thanthe educational difficulties.

A: The problem then is that the resources foreducation are only enough for children withvery severe problems who require a statement.Some children would benefit from extra helpbut the current funding can’t provide it.

Q: We found that our son didn’t need astatement in primary school but he did insecondary school and we had a 2½ yearfight to get one, so he lost a lot of ground.

A: All is not lost. Learning can continue and ifsome ground is lost in the troubled adolescentyears, there are continued maturationpossibilities. Don’t lose hope.

Professor Butler explained that neurologicaltests in the Edinburgh study had shown thatsome boys had slight intention tremors; others

had unusual tics and grimaces, but these were not particular to XYY and in themselvesquite common. He said that in terms of co-ordination, the indicators pointed essentiallytowards normal development. He then turnedto the tests of character and behaviour thatwere carried out on the Edinburgh boys withXYY.

Character and behaviourThe Edinburgh study showed that the boyswith XYY were slightly more prone than boyswithout an extra Y to physical concerns likestomach complaints and they had more speechproblems. On the positive side, they had fewereating problems and fewer sleeping problems.They were more likely to have a temper; theywere a little more solitary; some boys haddifficulty making friends; they were a bit moreirritable; and some boys had a tendency to telllies. In other things, the boys with XYY were nodifferent from the controls, although minorthings like stealing were a bit more commonbut as a group, they were much less fussy thanboys with XY and had fewer worries.

About half the boys with XYY needed referralto a psychologist or psychiatrist compared withnine per cent of the control group. None ofthe boys had serious psychological problems –mainly defiant behaviour, temper tantrums,stealing and some wetting problems, all thingsyou see in the population in general. Threeboys did get depression but this can beenvironmental, you could find it anywhere. Whywas the referral rate for boys with XYY somuch higher than for boys with XY? In theXYY group, family problems were three timeshigher; mothers’ depressive illnesses andmarriage break-up was much commoner and itis likely that family issues were the principalreason for the possible behavioural issues.

QuestionsQ: Is being attention-seeking part of XYY?

A: My children – probably most children – areattention-seeking, so it isn’t a specific part ofXYY.

Q: My son hasn’t got many friends. He’san only child and his behaviour can bechallenging. He can go up to children and

w w w . r a r e c h r o m o . o r g

be in their face. I tell him to come back abit and not frighten them. But it’ll getworse as he gets taller.

A: It may be possible to help with learningsocial adaptation skills.

A (parent): I’ve found that trying to get myson to join clubs or football teams or anythinglike that is helpful so as if he doesn’t have aspecial friend, he does have groups of friends.

CriminalityProfessor Butler also mentioned the fourfoldincrease in conviction rates among theEdinburgh boys with XYY and the slightly lower age at conviction – 17 rather than 18 for the XY boys. But most of the crimes were minor and against property rather thanpersons and the most severe crime wascommitted by a control boy. The IQ of theboys with convictions was lower for both boyswith XYY and for controls, so boys functioningless well intelligence wise were more likely tobe led astray.

Afterwards?Quoting from Dr Shirley Ratcliffe, ProfessorButler said in conclusion that the combinationof slightly lowered intelligence, delayed speechdevelopment, emotional immaturity and greaterheight increased slightly the frequency ofbehaviour problems and criminal convictions.But there was improvement in time andspontaneous maturation and outcomes couldbe improved with consistent parentalmanagement and psychiatric help wherenecessary. So things can be done and help canbe given.

QuestionsQ: My son’s nearly 13 and we’ve known for three years about the extrachromosome. Apart from when we weretold about the extra chromosome, we’vehad no follow-up. Is that to be expected?

A: It depends what the problem is. Having anextra Y chromosome is essentially a variation ofnormal. There is no particular health risk andthe learning and behaviour variations are withinwhat you see in boys who don’t have an extraY chromosome. If a boy’s brought up in a

XYY study day report

P a g e v i

loving, secure, supportive home environmentthere’s no reason why he should not do well. Itell my own patients that I’m there in case anyproblems arise but don’t see them regularly asI’m not monitoring anything.

Q: Does it make a difference to theoutcome if the extra Y is in every cell inthe body or not?

A: Generally the chromosomes are tested ona blood sample, which is only one of the tissuesin the body. You may see less of a markedeffect generally in mosaic XYY [part XYY, partXY] but this is not always the case because itdepends which part of the body has the extraY. You are only checking a single blood samplebut the brain or the knees might have more Ys.

Males with an additionalY chromosome

Pat Jacobs,Professor ofHuman Geneticsat the WessexRegional GeneticsLaboratory, tookfamilies back tothe 1960s andthe early days of identifying and countingchromosomes.She showed howit was possible to

identify extra X chromosomes without a bloodsample – just from a ‘quick and dirty’ methodof wiping inside the cheek (buccal smear).Using these methods, a surprisingly largenumber of men with an extra X chromosomewere found in the ‘special hospitals’ set up forpeople who are hard-to-manage but are notconsidered responsible for their antisocialbehaviour. Even more surprisingly, many ofthese men in the special hospitals were found,on full chromosome analysis, to have anadditional Y chromosome as well as theadditional X – that is, their chromosomeconstitution was 48,XXYY. Men with thischromosome make-up are extremely rare inthe population and to find relatively largenumbers in the special hospitals had to be

significant. Professor Jacobs wondered if theadditional Y was contributing to their reason forbeing in the special hospitals and, if so, wouldmales with a 47,XYY constitution also be foundin excess numbers in the special hospitals?Professor Jacobs studied 315 men in the onespecial hospital in Scotland and found 9 menwith XYY and one with XXYY. Eight of the 10men were in the wing of the hospital for thosewith significant learning difficulties, described inthose days as mental retardation.

At the time, the frequency of XYY in thepopulation was not known and was only to berevealed by studies in six centres across theworld where every newborn baby had theirchromosomes tested. These studies covered38,000 baby boys and found 43 with XYY,giving a frequency of 1 in 1,000. This showedthen that there was a 32-fold increase over thepopulation average in men with XYY in thespecial hospital in Scotland. But why were thesemen there? Later, careful clinical studies showedthat the men were most likely to be in thegroup with a learning disability and that theircrimes were much more often against propertyand much less often against people.

So ten males with an extra Y chromosomewere found in the Scottish special hospital. Butat that time in Scotland there were nearly twomillion men over 15 years old, so there had tobe around 1,800 XYY men in Scotland. Wherewere the remaining 1,790? The answer is,Professor Jacobs said, ‘We don’t know. Are theXYYs in the special hospitals the tip of aniceberg or are the special hospital XYYs veryatypical of XYYs in general?’

The researchers tried to find out. Looking atevery prisoner in Scotland (889 males in all)they found one man with XYY. So the menwith XYY were not in prisons. They looked inapproved schools and found four, a smallincrease. ‘But it is quite clear that the vastmajority of adolescents and adults with XYYare not in the penal system,’ Professor Jacobsstressed.

So where are they? ‘What we need more thananything is to find out what boys and men withXYY are like,’ she said. The only way to get anunbiased population is from a consecutiveseries of newborns. In theory, following up the

babies identified in the six centres across theworld should have answered this question. Buttoo many babies with XYY were not followedup – only 41 across all six surveys, so in eachcentre there was only a small number. Everycentre followed them up in a different way,making comparisons difficult.

But Professor Jacobs said that babiesrecognised from prenatal diagnosis (usuallyundertaken because of the mother’s age) canalso be followed up. The ChromosomeAbnormality Database, which records mostchromosome abnormalities in Britain, has 192records of baby boys born after XYY diagnosis.By following this group, the true picture ofwhat boys and men with XYY are like canemerge.

Professor Jacobs stressed that most males withXYY are never referred for chromosomeanalysis. At her own laboratory in Wessex,covering the central part of southern England,just 16 per cent of all boys and men with XYYhave been diagnosed. ‘Is that because theremaining 84 per cent are perfectly normal? Isit because we don’t know enough about themto know whether they should have beenreferred or not? I am delighted to hear that itwould have been a huge comfort and help tothe families here today to have known aboutthe XYY diagnosis earlier.’

Lastly, Professor Jacobs gave some informationon what people with an extra Y chromosomeare known to die of; causes of death includehealth-related causes and accidents. Shestressed again that her information onlyincluded those men with XYY who had beendiagnosed – no-one knows about the 86 percent or so who remain undiagnosed. Thefigures she showed also included a few menwith more than one extra Y chromosome. The information demonstrated that 57 out ofaround 700 men with one or more extra Ychromosome had died, somewhat more thanwould be expected. There was no increase indeaths from cancer or from hormonal,metabolic, nutritional or mental disorders.There was, however, a rise in deaths fromepilepsy – although with a total of four thenumbers were very small – and also fromrespiratory and circulatory causes such as heartattacks and strokes. [Professor Jacobs later sent

w w w . r a r e c h r o m o . o r g

XYY study day report

P a g e v i i

w w w . r a r e c h r o m o . o r g

additional information that showed that alldeaths except four occurred in adults and 63per cent of them – almost two-thirds –occurred in men aged over 50.]

Family concernsFamilies and teenagers broke into three groupsto discuss issues around behaviour, social skills,learning, attention and concentration. These arethe main issues that emerged.

Younger group (primary school age children):Families first discussed strategies for dealingwith unacceptable behaviour, including awarning, followed by ‘time out’ on the staircase,with the time increasing by a minute with eachextra year of age. One family reported thatwhen their child was overwhelmed he wasremoved from the situation and given time tocalm down and that he had developed his owncoping strategy. At school children are given acooling down time with a technique such ascounting down from 10. One family pointedout that the way they treat their child now willaffect his future behaviour; they noticed thattheir child can fly off the handle and can getstressed if he can’t finish a task at the firstattempt. Tantrums were reported to be instant,disappearing as instantly as they came.

Families then turned to early assessments oftheir child’s special needs. They wondered:should they tell the school about the XYYdiagnosis or not? Families with younger childrenwere recommended to tell the school verysoon so their son could have appropriateinterventions.

Discussion then turned to when to tell thechild. One boy recognised in himself his ‘specialthing’, as he called his XYY. He was able todiscuss with his mother why he was like thisand found it helpful to know that he was notthe only one. Humour was a great help incoping and families said they emphasised totheir child that he is special, rather thandifferent. Many families were told about

organise his thoughts and Ritalin was veryhelpful with learning at school.

Many boys had slight obsessions: they werepicky eaters; they didn’t like foods to touch eachother. Some had sensory issues, liking strongsmells or soft clothes. Some had variable facialor vocal tics (clucking, grunting, tongue clicking)which were associated with stress. Some boysused a ‘baby voice’ or adopted different voices.

By secondary school age, most boys were sotall that people thought they were older thanthey were, creating inappropriate expectations.They were bullied more than others and thismay have been associated with their height. Acommon feature was that they got tired easilyand needed a lot of sleep.

In terms of learning, a number of boys hadfeatures on the autistic spectrum; some had astatement of special educational needs;generally a small class size, 1:1 help andhomework support was helpful. Some foundbackground noise distracting and managedbetter in a quiet environment. Some boysshowed sexualised or inappropriate sexualbehaviour or behaviour that might have beenappropriate in a much younger child, in somecases attributed to a lack of social skills. Someboys tended to invade others’ personal space.Families stressed that social skills training andrepeating instructions for social skills was veryhelpful; role play also helped.

Families also discussed their sons’ talents: someboys were extremely gentle and empathetic,some good with small children and animals(while others were scared of them). At school,many were brilliant at mathematics, especiallymental arithmetic; one boy was very good atgeography and people but was not interestedin maths. As a group, they liked facts, science,puzzles, and construction toys like Lego; quite a few were creative, artistic and musical. Theyliked practical activities and computers. Theywere generally caring and got on well withtheir other brothers and sisters; they were veryactive.

A number of families reported improvementsover time, often as leaps forward. Boys seemedto catch up at school once they had the righthelp.

Reported by Sarah Wynn, Unique

criminality at diagnosis and felt strongly thatthere was a need for better education,especially of medical professionals, about XYY.

Some families reported that their sons areeasily led and over-friendly, talking to anyoneincluding strangers. Many boys fixed on aspecific person as a friend, even though thatmight be the ‘worst’ boy in the class. One ortwo parents said that they had to teach theirchild social skills as they didn’t acquire theminstinctively. Some children had unusualobsessions and others showed sexualisedbehaviour, which was not a problem at 10 but was if it continued beyond childhood.

In terms of learning, quite a few families saidtheir sons fell into the autistic spectrum, somefull blown, others with Asperger’s. Several boyshad speech and language difficulties and somewere great fantasists. Some boys were verygood at spelling in their heads but were notthen able to write the word down. Some boyshad no educational difficulties; others weremore significant. Many boys functioned better insmall groups. Many didn’t like loud noises;others had a heightened sense of smell. Onechild hated having his hair cut.

Many boys were always hungry and constantlyeating. Some were hyperactive, otherscomplained of tummy aches but this mighthave been attention-seeking. Some were verygood with mechanical devices. Many were notsensitive to the cold. In some, the message thatthey needed to go to the toilet arrived at thelast minute. Some showed a fear of animals.

Reported by Beverly Searle, Unique

Older group (secondary school age children):Many of the concerns raised among theyounger boys were also raised among the olderboys. Behavioural issues were common,including an inability to control their temperparticularly with objects, such as slammingdoors. A number of boys were sensitive andcried easily. Families had tried many approachesto behaviour including taking fish oils and othersupplements, consulting herbalists, behaviourtherapy, star charts and time out. Some familieshad a positive experience with Ritalin(methylphenidate); it helped one boy to

�Pregnancies with XYY almost neverseem to end in a pregnancy loss.�

P a g e v i i i

AdolescentsMost of the discussion covered areas whichother adolescents would be experiencing aswell.� All the boys except one were in mainstream

school – one was in a special needs schoolhaving been expelled from a mainstreamschool for behavioural and anger issues.

� Likes – music (especially RnB and Heavymetal), video games (one boy showedalmost an obsession), roller-coasters (all theboys showed a strong liking for very fastsports) and being outside rather thancooped up inside.

� Dislikes – school work� They were quite happy with meeting new

people, especially at events such as gigs orparties.

� They had normal relationships with theirsiblings – getting on at times and not gettingon at times.

� School subjects – they found maths and ICTespecially enjoyable and easy and were notparticularly interested in languages.

� Sensory issues – high-pitched sounds wereparticularly annoying to them (eg thewireless system in the classroom). One boydidn’t like the way cucumber smells anddidn’t eat it (though his family couldn’t smellanything).

� Attention – most preferred writing answersdown rather than having to speak up inclass, though some were quite outspoken.

Reported by Satnam Juttla, Unique. The boys gavepermission to report back the content of thediscussion.

w w w . r a r e c h r o m o . o r g

XYY study day report

Frequency of some features of XYY in Unique familiesFeature Number of boys

(total 18)

� Good visual memory 18� Mild mannered, lovely and caring 17� Fiery temper 16

– towards things rather than people 10– towards people (in one case specifically family) 6– partly or completely outgrown by the age of 15 3/3

� Could be easily led 16� Stressed if they can’t do something at first attempt 15� Best in small groups 15� Lack of danger awareness 14� Very active 14� Anxious at new situations, a change or anything different 14� Can be friendly to strangers 13� Autism formally diagnosed or possible autistic features 13

– formally diagnosed 6– autistic features mentioned by professional staff 7

� Heightened awareness of sound, inaudible to others or background 13� Any obsessions 12� Very easily tired – ever 12

– outgrown by 14 or 15 years 2/4� Good at practical things 12� Good at ICT 11� Better at maths than at language based skills 10� Not sensitive to cold 10� Clicks and tics under stress 10� Unusually strong 10� Indecisive 10� Attention-seeking 9� Fantasists – ever 8

– outgrown by 13 or 14 years 2/4� Heightened sense of smell 8� Artistic 7� Picky eaters 6� Fear of animals, including insects 6� Double-jointed 4� Under-challenged at school 3� Sexualised behaviour 3� Unusually weak 3