The evidence base for shaken baby syndrome



Editorial: Is ‘shaken baby syndrome’ shaky science?



Could lack of vitamin D be behind Sids cases?


The disturbing reason why a growing number of parents are being falsely accused of shaking their babies to death

The disturbing reason why a growing number of parents are being falsely accused of shaking their babies to death

By Sue Reid

Last updated at 10:41 PM on 18th December 2011

Standing together in the dock of the world’s most  famous criminal court stood two confused and sobbing parents, accused of the worst offence imaginable: beating and shaking their own baby to death.

According to prosecutors, four-month-old Jayden Wray was gripped and twisted so brutally that bones throughout his body shattered, while vicious blows to his head damaged his brain.

The injured baby was rushed to hospital where doctors said he could not survive. Three days later, paediatricians at Great Ormond Street Children’s Hospital in London switched off his life-support machine.

Riddled by ricketts: Jayden Wray's parents were cleared of causing his death after doctors had failed to diagnose the serious childhood bone diseaseRiddled by ricketts: Jayden Wray’s parents were cleared of causing his death after doctors had failed to diagnose the serious childhood bone disease

So certain were doctors and police that Jayden had been hurt by his parents that the couple were barred from their son’s bedside before he died.

They were not allowed to attend his hospital christening and lost the chance to say their last goodbyes.

This horrific story unfolded over six weeks in a panelled courtroom of London’s Old Bailey. Yet today, Jayden’s father and mother — Rohan, 22, and 19-year-old Chana — are free. The case against them was thrown out ten days ago after 60 medical and forensic experts at their murder trial disagreed over what really killed their son.

Finally, the judge told the jury to find the couple not guilty because Jayden’s post-mortem revealed he had rickets, a serious childhood bone disease which had once been eradicated in this country nearly a century ago.

Rickets is linked to a lack of vitamin D, which the body synthesises from sunlight or absorbs from eating foods such as oily fish and eggs.

The disease causes the skulls of children to weaken and their bones to easily break — symptoms which closely mimic those of a deliberately shaken baby.

Rohan and Chana were found not guilty of murdering their baby Jayden Wray, and it was discovered he had rickettsRohan and Chana were found not guilty of murdering their baby Jayden Wray, and it was discovered he had ricketts

Hospital doctors in Jayden’s case, it  transpired, had missed a vital clue when the baby got sick and then died: his mother, Chana, had so little vitamin D in her body that Jayden did not receive the vitamin while inside her womb or when she breastfed him.

After the case, the Wrays’ lawyer Jenny Wiltshire said: ‘These parents have been through hell. They can now grieve for the son they loved and cherished.’

Yet theirs is a case which has profound implications for all families. For it serves to highlight a growing medical problem — one which is not only leading to false allegations of abuse against innocent parents, but which is endangering the health of children right across Britain.

As Jenny Wiltshire said: ‘The real criminality here is that if the money spent on bringing this case had been used to tell all breastfeeding mothers to take vitamin D supplements, Jayden’s death wouldn’t have occurred.

‘Rickets, which is now back to epidemic proportions, would have been wiped out.’

Al-Alas gave birth to Jayden when she was 16Chana gave birth to Jayden when she was 16

Indeed, a growing number of experts believe that Britain is in the grip of a childhood rickets crisis on a scale not seen since Victorian times, when children working long hours in the factories and the mines were particularly vulnerable to the ailment.

The condition was largely eliminated after World War II, when the government provided free orange juice enriched with vitamin  D and cod liver oil for every child in the country.

The difference today is that it is not only a disease of the poor. Those living in middle-class homes are just as likely to suffer from the condition — notorious for causing bowed legs and knock-knees — as those from the poorest inner-city estates.

Doctors at Southampton General Hospital recently found 40 per cent of children from all backgrounds being treated in the orthopaedic department had a shortage of vitamin D in their bodies — and were, therefore, prone to rickets.

The crisis, said orthopaedic consultant Nicholas Clarke, was ‘reminiscent of 17th-century England.’

The statistics speak for themselves: cases of childhood rickets have increased five-fold in 15 years.

Last year, more than 760 babies and youngsters were admitted to  hospital showing signs of the condition. At the same time, recent research among primary care trusts found that the number of children under ten admitted to hospital with rickets leapt by 140 per cent between 2001 and 2009.

Doctors say the alarming rise is often due to today’s children spending large periods of time indoors  playing computer games and watching television.

At the same time, many parents worry about exposing their children to sunlight — due to the repeated warnings about skin cancer — and cover them in high-protection creams, which impede the body’s ability to produce vitamin D and, in turn, to grow strong bones.

See the light: A lack of sunlight can lead to the development of ricketts in childrenSee the light: A lack of sunlight can lead to the development of ricketts in children

If children are deprived of the  vitamin, they are at great risk of developing rickets and their immune system is weakened. A diet of junk food, instead of vitamin D‑rich meat, liver, eggs and oily fish, is also blamed for the crisis.

As Gillian Killiner, of the British Dietetic Association, said recently: ‘We have taken it for granted  that skin cancer is the big problem and overlooked the vitamin D  side of things.

‘Children are covered up with sunblock, T-shirts and hats, and that can be important — but it can go too far. We don’t have a lot of sun in this country, and in winter you are likely to be lacking vitamin D. If you haven’t built up enough in the summer, that’s going to be a certainty.’

But until now, few have pointed out one of the most worrying aspects of the crisis: babies with a vitamin D deficiency display remarkably similar symptoms to those who have been deliberately shaken by their parents or carers. This may have led to other controversial criminal trials of parents accused of harming their children when — like the Wrays — they were completely innocent.

Stuck indoors: Children should be encouraged to put the games consoles away and get outside (posed by model)Stuck indoors: Children should be encouraged to put the games consoles away and get outside (posed by model)

Earlier this year, Nafisa and Mohammed Karolia, of Blackburn, Lancashire, were imprisoned for child cruelty despite their defence team arguing that vitamin D depletion led to their baby daughter’s injuries and subsequent death from broncho-pneumonia, aged seven months, in 2009.

The Karolias were accused of inflicting many terrible injuries on the child, including breaking her leg, her arm, and her rib. The police and prosecution lawyers said they had been caused by twisting, shaking and rotating the child’s limbs.

However, a very senior paediatric consultant who has examined evidence given at the trial has told the Mail: ‘It is very likely that there was an issue here with low levels of vitamin D in the mother and her daughter. But it appears that when it was mentioned in court, the prosecution nearly had a fit because they insisted this child had been shaken and abused.’

Now one coroner has become so alarmed by the rise of rickets that he has demanded the Government take action.

North London Coroner Andrew Walker sent a written notice to the Department of Health, under Rule 43 of the Coroner’s Rules, saying mothers must be warned of the dangers of not taking the vitamin D supplements.

The notice requires the Health Secretary Andrew Lansley to respond within 56 days, detailing what action his department plans to take.

Mr Walker acted after presiding over the inquest into the death of three-month-old Milind Agarwal. The baby was taken to the doctor this summer with a suspected viral infection and was sent home with saline nasal drops. A later call to another doctor by his parents resulted in them being told to give him paracetamol.

When Milind became critically ill at 10pm one evening in July this year, his parents called an ambulance and he was taken to Northwick Park Hospital in North London. A few hours later, he died of septic inflammation of the heart and associated problems.

An eminent paediatric pathologist and a leading authority on signs of child abuse, Dr Irene Scheimberg, who conducted a post-mortem examination on baby Milind, told the inquest that vitamin D deficiency may have accelerated the baby’s illness because his immune system was weakened.

Sad: Jayden Wray died at Great Ormond Street - Sue Reid is urging for ricketts in children to be more closely monitoredSad: Jayden Wray died at Great Ormond Street – Sue Reid is urging for ricketts in children to be more closely monitored

She said afterwards: ‘In the 21st century, in a civilised country, this is outrageous. It is only the tip of the iceberg.’

The highly respected Dr Scheimberg, based at the Royal London Hospital, added: ‘I hope that the doctors treating sick children now open their eyes to this vitamin deficiency and the problems it causes. It is a really serious issue and a matter of justice for parents who are accused of abusing their children.’

The parents of Milind, who live in Wembley, London, agreed to talk to the Mail about what happened. They do not want their real first names used in this article to protect their family’s privacy. Both parents, whom we have called Gayen and Shrina, were born in India.

Research has shown that those with darker complexions process vitamin D from sunlight much more slowly than people with paler skin
and are, therefore, prone to deficiency — and more likely to pass it on to their babies.

When I met the bereaved couple this week at their small flat, they were still raw with grief about their baby’s death. He was born in  March, a wonderful first son.

A slight muscle weakness in his heart, discovered soon after his birth, was corrected with a simple procedure, and in June, Milind was given a clean bill of health.

‘We are talking about him now because it is important for other families,’ says Gayen, a computer engineer, aged 34.

‘We had no idea that the legacy of Milind would be to help spread the word that vitamin D is essential for all mothers and  their babies.’
Gayen and Shrina sit on the sofa in their neat sitting room. On one shelf are the cuddly toys that lay in the cot beside Milind during his short life.

Jayden had obvious signs of ricketts. It would have left the baby with weak bones, including a weak skull

They show me his picture, a bright-eyed and smiling child looking straight at the camera. Then they remember his last hours with tears in their eyes.
Says Gayen: ‘He had had a cold, but was sleeping well on the night he died. It was very sudden when he became so ill.

‘Now we know from the coroner that he had an infection, and that the lack of vitamin D in his body meant he could not fight it properly.’

By tragic coincidence, Shrina, 29, had been told she had a vitamin D deficiency two years before Milind was born. She had a pain in her right knee and her local GP put her on vitamin  D tablets. However, as she explains: ‘I had stopped taking them well before I became pregnant. No one, including the GP, the midwife or doctors at Northwick Park Hospital, ever told me to take the pills while I was pregnant or my new son would be in danger.’

Since Milind’s death, she has revisited her GP and had  blood tests. They show that  she has very low levels of the  crucial vitamin.
‘I am now taking pills all the time and trying to get out in the sunshine,’ she explains.

By coincidence, the child pathologist Dr Scheimberg, who unravelled the truth about Milind’s death, also helped clear the parents of Jayden Wray.

The prosecution insisted that Jayden’s injuries to his skull, knee, elbow, shoulder, hip, ankle and wrist could only have been caused by him being intentionally shaken and having his head hit against something hard.

However, a post-mortem examination by Dr Scheimberg discovered Jayden’s ‘obvious sign of rickets. It would have left the baby with weak bones, including a weak skull, and led to a series of fractures’.

She is appalled at the way that these innocent parents have been treated.
‘Some people should be hanging their heads,’ she said.

‘These young parents were stopped from even saying goodbye to their child before he died, and then accused of murdering him.’

One can only hope that their cases will lead to a growing realisation among all parents — and some in the medical profession — about the return of a condition that can be prevented by a simple pill or exposure to sunshine.
Read more: http://www.dailymail.co.uk/femail/article-2075884/Parents-guard-accusations-babies-shaken-death-continue-grow.html#ixzz1kqpoBJ21

Call for vitamin D infant death probe

Call for vitamin D infant death probe

By Andrew Hosken Today programme, Radio 4

Coloured X-ray of the weakened bones and bowed legs of a child suffering from rickets Vitamin D deficiency can cause diseases like rickets

Two senior paediatric pathologists say they have discovered vitamin D deficiency in a significant number of children who have died of Sudden Infant Death Syndrome.

The doctors say that vitamin D deficiency and associated diseases such as the bone disease rickets could potentially explain deaths and injuries that are often thought to be suspicious.

And they fear that children with such deficiencies may have been taken away from their parents and placed in foster care for no good reason.

Dr Irene Scheimberg and Dr Marta Cohen believe their findings merit further investigation and research.

“I think there should be a commission that studies all these cases [which would] take into consideration the age of the children, the gender, the race and the way in which the way these families live – particularly when the children are still alive and living in foster care when they could be back with their families,” said Dr Scheimberg, based at the Royal London Hospital in Whitechapel.

The findings in children from London and Yorkshire followed the discovery by Dr Scheimberg in 2009 of congenital rickets in a four-month-old baby whose parents had been accused of shaking him to death.

Chana Al-Alas,19, and Rohan Wray, 22, were acquitted of murdering their son Jayden after the jury learned that his fractures, supposedly telltale signs of abuse, could have been caused by his severe rickets. Dr Scheimberg also discovered rickets in Jayden’s mother.

Michael Turner QC, who defended Miss Al-Alas, told the BBC that he was shocked by the lack of knowledge about vitamin D deficiency of some of the expert witnesses at the trial, held at the Old Bailey.

A newly born baby Bones of small babies with vitamin D deficiency can fracture with little or no real force

“No-one had ascertained until the post-mortem that baby Wray was suffering from congenital rickets; no-one had ascertained that the mother was vitamin D deficient herself,” he added.

“So we had a senior radiologist failing to diagnose rickets; we had a senior radiologist from Great Ormond Street Hospital failing to diagnose congenital rickets; and even more worryingly – in respect of the senior radiologist at Great Ormond Street – failing to understand in any way, shape or form the importance of vitamin D on the endocrine system [hormone-secreting organs] in the body.”

But a spokesman for Great Ormond Street Hospital challenged Mr Turner’s version of events.

“Jayden’s death was tragic. He came to Great Ormond Street with very severe injuries including a fractured skull and brain damage, and multiple other fractures. For the two days he was here, our priority was to try to save his life, but sadly this was not possible.

“Rickets, as conventionally understood, is diagnosed either from X-rays, biochemical tests, clinical findings, or a combination of these. We’re confident in the clinical view from our staff that his X-ray appearances were within the range of normal, and did not show definitive features of rickets.”

“Two radiologists reached this view at the time, and subsequent independent review by two other radiologists agrees with this view. We understand the diagnosis of rickets was made after his death, not from any X-ray findings, but through examination of samples under a microscope.”

In London, Dr Scheimberg discovered vitamin D deficiency in a further 30 cases. Vitamin D deficiency was found to be a cause of death in three cases. Cardiomyopathy, a disease of the heart muscle, was discovered in two small babies. A third died of hypocalcemic fits, a condition of low serum calcium levels in the blood caused by vitamin D deficiency.

Vitamin D deficiency was a co-existing finding in the sudden and unexpected deaths of eight children, so-called Sudden Infant Death or Sids; in five children with bronchial asthma and another five with combined bacteria-polyviral or polyviral infections. Two of the babies, including baby Jayden, also had fractures.

In Yorkshire, Dr Cohen found moderate to severe levels of vitamin D deficiency in 45 children, mostly infants aged less than 12 months, who died of natural causes. Of the 24 sudden infant deaths Dr Cohen investigated from this group, 18 – or 75% – were deficient in vitamin D.

Dr Scheimberg said severe vitamin D deficiency could make the bones of small babies very brittle and capable of fracture with little or no real force.

Continue reading the main story

“Start Quote

We know a significant proportion of people in the UK probably have inadequate levels of vitamin D in their blood.”

Dame Sally Davies Chief Medical Officer

“We need to investigate the vitamin D levels of these children carefully and the circumstances in which the bones fracture,” she explained.

“Obviously if you have bones that fracture easily then they will fracture easily they will fracture with any normal movement like trying to put a baby grow on a baby you will twist their arm. In a normal child you won’t produce anything. But in a child whose bones are weakened and [who have] an abnormal cartilage growth area, then it’s easier for them to get these very tiny fractures or even big fractures.”

Vitamin D is actually a hormone, and endocrinologists are experts in how the body is regulated by the hormone excreting glands – or endocrine organs.

Stephen Nussey is professor of endocrinology at St George’s Hospital at Tooting in south London. He believes that, despite repeated government recommendations on vitamin D supplementation, vitamin D deficiency is still not being taken sufficiently seriously by the authorities.

“Lizards are quite like humans in their vitamin D. Their dietary intake is pretty low and they need to have sun exposure and you need to have a light in the enclosure in which you keep your lizard of the right wavelength.

“If you don’t have one of those lights your reptile will get osteomalacia [adult rickets] very similar to humans. I guess the RSPCA would quite rightly prosecute you if you didn’t give your reptile vitamin D.

“But there’s no action taken against you if you don’t give it to your daughter. So that rather illustrates the importance placed on vitamin D for your reptile rather than giving it to your daughter.”

Earlier this week, the chief medical officer for England, Dame Sally Davies, wrote to doctors, nurses and other health professionals advising them to consider vitamin D supplementation for certain at risk groups, including pregnant mothers.

Mother and daughter The chief medical officer has said those at risk should take vitamin D supplements

“We know a significant proportion of people in the UK probably have inadequate levels of vitamin D in their blood. People at risk of vitamin D deficiency, including pregnant women and children under five, are already advised to take daily supplements. Our experts are clear – low levels of vitamin D can increase the risk of poor bone health, including rickets in young children,” she explained.

“Many health professionals such as midwives, GPs and nurses give advice on supplements and it is crucial they continue to offer this advice as part of routine consultations and ensure disadvantaged families have access to free vitamin supplements through our Healthy Start scheme.

“It is important to raise awareness of this issue, and I will be contacting health professionals on the need to prescribe and recommend vitamin D supplements to at risk groups.

“The Department of Health has also asked the Scientific Advisory Committee on Nutrition to review the important issue of current dietary recommendations on vitamin D.”







Vitamin D may not explain fractures in babies

Vitamin D may not explain fractures in babies

By Amy Norton

NEW YORK | Tue Apr 12, 2011 4:23pm EDT

(Reuters Health) – Unexplained bone fractures in babies are usually due to abuse, but researchers have suspected that sometimes they could be due to low vitamin D levels. A new study now casts doubt on that idea.

Vitamin D is needed for healthy bones, and an overt deficiency can cause rickets, a softening in children’s bones that may lead to pain and deformities like severely “bowed” legs and abnormal curves in the spine.

X-rays of kids with rickets show some of the same abnormalities commonly found in abused children. And some researchers have speculated that low vitamin D levels – even those not low enough to cause rickets — could be the true cause of some bone fractures blamed on abuse.

To look into that question, researchers at Children’s Hospital of Philadelphia measured vitamin D levels in 108 babies and toddlers treated for broken bones at their center. Out of every 10 fractures, seven were due to accidents and three were blamed on child abuse.

The researchers found that relatively low vitamin D levels were common — but no more common among the children thought to be victims of abuse.

Nor was low vitamin D more common among children with multiple fractures (a potential sign of abuse) versus those with a single broken bone.

“Our study indicates that a low vitamin D level should not discourage consideration of abuse when a child presents with unexplained fractures,” lead researcher Dr. Samantha Schilling told Reuters Health in an email.

She added that “it is possible, and likely, that at some threshold, very low vitamin D levels contribute to fracture susceptibility in children.” But this study was not designed to show what that threshold is.

In fact, Schilling said, no studies have been done to pinpoint a vitamin D “threshold” below which children’s fracture risk goes up. Even when it comes to rickets, she noted, the correlation between vitamin D levels and rickets severity is unclear.

The findings, published in the journal Pediatrics, are based on 108 children younger than 2 who were treated for bone fractures over 1 year. Schilling’s team found that eight children had a vitamin D deficiency, while 34 were deemed to have insufficient levels (not low enough to be considered a deficiency) and 66 had sufficient levels.

The researchers found that children with fractures thought to be caused by abuse were no more likely to have a vitamin D deficiency or insufficiency.

In addition, low vitamin D was no more common among these abused children than it was in earlier studies of healthy children, the researchers say.

On the other hand, the findings do not necessarily mean that unexplained bone fractures in babies are always due to abuse, or that low vitamin D has no role in such cases, according to Dr. Colin R. Paterson, who wrote an editorial published with the study.

“I believe that not just vitamin D deficiency, but a number of other bone disorders, can cause fractures that can readily be misinterpreted as child abuse,” Paterson, a retired staff physician at the University of Dundee in Scotland, told Reuters Health in an email.

“It has often been assumed,” he said, “that if parents are unable to provide an explanation for fractures they must be lying about assaults inflicted by themselves or others.”

But, Paterson said, it is possible for rickets or certain other bone disorders — like the genetic brittle-bone condition osteogenesis imperfecta — to make young children vulnerable to fractures even with “normal handling.”

Infants and children with bone fractures do not routinely have their vitamin D levels measured, according to Schilling, because there is no evidence that it’s useful to do so.

She added, though, that it might be helpful in cases where an exclusively breastfed infant has a fracture. That’s because breast milk is low in vitamin D, and unless breastfed infants are given vitamin D supplements, they are at risk of having “suboptimal” levels.

To help prevent that, the American Academy of Pediatrics recommends that breastfed infants be given daily vitamin D drops. (Infant formulas are already fortified with the vitamin.)

Young children can get their vitamin D from fortified cereals, milk and orange juice, or from the few foods that contain the vitamin naturally — like fatty fish and egg yolks. Experts recommend that infants get 400 IU of vitamin D per day, while children ages 1 and up should get 600 IU.

SOURCE: bit.ly/dR64Lc Pediatrics, online April 11, 2011.

When a toddler has a broken bone, pediatricians may be more likely to be CHILD ABUSE

When a toddler has a broken bone, pediatricians may be more likely to be CHILD ABUSE

(Reuters Health) – When a toddler has a broken bone, pediatricians may be more likely to suspect abuse if the family is lower-income, a new study finds.

Researchers found that pediatricians who read a fictional case report of a toddler with a leg fracture were more likely to suspect abuse if the child was described as coming from a lower-income family.

The hypothetical child’s race, on the other hand, did not appear to influence doctors’ opinions.

The second finding is somewhat surprising, according to the researchers. Studies looking at real-world cases have found that minority children are more likely to be evaluated for abuse than white children are.

And it’s well known that the child welfare system in the U.S. has a disproportionate number of minority kids.

“There’s very strong evidence of a racial difference in how patients are handled,” said lead researcher Dr. Antoinette L. Laskey, a pediatrician at the Indiana University School of Medicine in Indianapolis.

But, she told Reuters Health, the reasons for that have not been clear — including whether doctors may act based on unconscious racial stereotypes.

The current results suggest “there’s more than race involved,” Laskey said.

She was also quick to say, however, that the study doesn’t mean pediatricians are consciously “classist” or otherwise biased when evaluating children’s injuries.

The study, reported in the Journal of Pediatrics, included 2,100 U.S. pediatricians who responded to a survey that described one of four hypothetical cases.

All cases included an 18-month-old with an “ambiguous” leg fracture — a type that can be caused by abuse or an accident.

But the cases varied by the child’s race (black or white) and the family’s economic situation; parents were described as having either professional jobs (accountant and bank manager) or working-class jobs (grocery clerk and factory worker).

Race had little effect on the doctors’ responses. The study found that when the child was black, 45 percent of doctors believed there had “possibly” or “almost certainly” been abuse; another 32 percent were “unsure.” If the child was white, 46 percent of pediatricians suspected abuse, with 28 percent saying they were unsure.

In contrast, there was evidence that parents’ job descriptions swayed doctors’ opinions.

When the child’s family was lower-income, 48 percent of pediatricians thought there’d been abuse, versus 43 percent when the family was higher-income.

It’s hard to know whether doctors’ responses to a fictional case would be the same in real life.

And it’s not clear, according to Laskey, whether attitudes about socioeconomic status might explain some of the racial differences in child abuse reporting seen in earlier studies.

She also stressed that she does not think pediatricians are consciously basing their diagnoses on parents’ job titles. But in general, unconscious stereotypes can influence anyone’s thinking.

“People tend to think that child abuse, or domestic violence, doesn’t happen in upper-middle-class families, but of course it does,” Laskey said.

It’s important, she said, for doctors to be aware that unconscious generalizations could get in the way of diagnosing child abuse — either missing it in kids from affluent families, or over-diagnosing it in children from poorer or minority families.

“My big take-home message for doctors is that we need to rely on the objective data,” Laskey said.

It is true that studies have found children in poorer families to be at greater risk of abuse. But the poverty, itself, is not a “causative factor,” Laskey said.

“Race and socioeconomic status shouldn’t be things used in a diagnosis of abuse,” she said.

SOURCE: bit.ly/wVlYrX Journal of Pediatrics, online January 5, 2012.


Rickets On The Rise In Britain’s Children


Pediatric radiologist says that Ina McElheny most likely suffered from congenital rickets






Vitamin D Deficiency in Pregnancy Linked to Low Birth Weight


Vitamin D deficiency during pregnancy: an ongoing epidemic



Factors affecting newborn bone mineral content: in utero effects on newborn bone mineralization.


Maternal vitamin D status during pregnancy and childhood bone mass at age 9 years: a longitudinal study.


Fatal brittle bones link is found




Information about Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a genetic disorder of collagen, a protein which forms the framework for the bone structure. In OI the collagen may be of poor quality, or there may just not be enough to support the mineral structure of the bones. This makes the bones weak and fragile and results in the bones being liable to fracture at anytime even without trauma.

Each time a bone is broken and set it will heal in a position slightly less than perfect and the same bone may often break repeatedly.

As the composition of collagen in the bone is not correct, even when there are no fractures there will be other problems connected to the condition.

Genetic Inheritance of Osteogenesis Imperfecta

In most cases one parent carries the gene for OI and there is a 50% chance that a child will have the condition. In the following diagram the gene marker for OI is represented as A.

Inheritance chart

Despite the shared gene A the condition may affect the Mother, Child 1 and Child 3 in very different ways e.g. the Mother may have few or no symptoms of the condition, Child 1 may have relatively few fractures and child 3 may have dozens or hundreds of fractures and severe mobility problems through their life. DNA testing is available in cases where this pattern of inheritance is not evident.

Genetic counseling is available to families with OI, or who are concerned about the possibility of future children having the condition. Your GP or clinical specialist should be able to refer you directly but should you have a problem accessing a counseling service please contact the BBS.

For a list of Genetic Councilling available in the UK go to Directory of Genetic Centres and Services website at www.gig.org.uk/services.htm.

Osteogenesis Imperfecta

OI is generally subdivided into Types. Not everyone will know what type they are and there is no such thing as a ‘typical person’ within the types. The main types are as follows

Type I

This is the mildest form of the disorder. However, the number of fractures varies greatly. Hypermobility (bendy joints) is common. Spinal issues may be apparent and regular monitoring will be necessary. Hearing problems can affect some (usually becoming evident in early twenty’s), Dentinogenesis Imperfecta (where the teeth crumble, and are brittle) might be evident.

A Child with Type 1 OI

  • May appear clumsy as hypermobility may increase the chance of falling/tripping
  • In most cases mainstream schools will be appropriate
  • May tire more easily than others of their age
  • Surgery may be required
  • At times mobility problems may be an issue, short-term use of a wheelchair may be required

An Adult with Type 1 OI

  • Will generally appear physically in good health. This can lead to problems in people misunderstanding the condition
  • Might find as they get older that fractures sustained months or years before, have an effect on their day to day mobility
  • May find that they have fractures more frequently

Type II

Type II is the most severe form of OI. Babies tend not to survive beyond the first few months.

  • Problems with the bones in the rib cage can lead to the lungs not being fully formed. Often this leads to respiratory complications.
  • Parents may have been informed of problems at an ante-natal scan, but may have had no warning that their baby has OI
  • Support needs to be immediate and ranges from providing information and a listening ear, help with financial costs i.e. equipment, hospital travel

Type III

This is a severe form of the condition. Fractures may occur in the womb and the baby is often born with fractures. The height will be very small, arms and legs will also be bent and short.

A Child with Type III OI

  • Can experience a high number of fractures
  • Will normally go to mainstream schooling but commonly will need additional support to help prevent fractures.
  • Babies require adapted car seats and buggies
  • Will need specially adapted wheelchairs
  • Will do all the things a child can do, but might find different ways to do them!

An Adult with Type III OI

  • Will still have fractures, but they may not have as many as when they where younger
  • The rib cage may not be properly developed leading to respiratory problems
  • Ligament problems may be evident. This can cause joint problems such as dislocations
  • Spinal curvature (where the shape of the spine is not right) must be monitored and can cause a great deal of pain
  • May experience pain with no obvious cause (ligament and spinal problems can both cause pain)
  • Bending of long bones may be an issue

There are other types of OI that have been clinically identified. These range from Types V-VIII. However the ones detailed above are the most common.

Type IV

This type falls between I and III in severity. There is huge variation in the number of fractures. Diagnosis is often not made until the person is older as the symptoms are easily missed or misdiagnosed.

A Child with Type IV OI

  • Ligament problems may be evident. This can cause joint problems such as dislocations
  • Spinal curvature (where the shape of the spine is not right) must be monitored and can cause a great deal of pain

An Adult with Type IV OI

  • May experience pain with no obvious cause (ligament and spinal problems can both cause pain)
  • Bending of long bones may be an issue

There are other types of OI that have been clinically identified. These range from Types V-VIII. However the ones detailed above are the most common.


The structure of the bone means cells are continually being replaced. Normally there is a balance between the amount of old bone cells removed and new bone cells being formed. Osteoblasts are responsible for new bone formation whilst osteoclasts, are responsible for removing old bone, a process known as bone resorption.

In individuals with Osteogenesis Imperfecta there is evidence of an imbalance in this process.

The Bisphosphonates work by trying to re-dress this imbalance. There are many different Bisphosphonate drugs that vary in the strength of their effects and way they are given.

Bisphosphonates can be taken in a tablet form which is taken once weekly. The method of taken this is quite specific most manage well with the tablet but it can cause stomach irritation. They are also given as an infusion (into a vein through a drip). A person would be required to attend hospital (normally as a day patient) over three consecutive days every three months. It is most common for adults to receive the tablet and children the infusions but this is in no way the rule.

The majority of studies on Bisphosphonates for people with OI have focused on children on infusion. These studies are showing positive results and there are reports of pain reduction, improved bone quality (bone density) and in some case a reduction in the number of fractures.

Surgery is often required by both adults and children. Surgery may focus on individual fractures, or the decision may also be taken to perform rodding, this involves putting rods into the bones to help strengthen them and protect against fractures.

Pain management in the form of standard pain medication might also be required. There are two issues that needto be addressed, short-term pain management (following a fracture) and long term pain management. Many benefit from being referred to specialist Pain Clinics.

Management of OI

Treatment for OI does not just come in the form of medication. A full overall approach is required, this may include (amongst other things):


Physiotherapy can help improve muscle tone and fitness. This is crucial as fractures; surgery etc can lead to periods of inactivity. Building up strength can help with pain management and also may shorten the recovery time after a fracture.

Occupational Therapy

Occupational therapy also plays an important role in terms of the practicalities of day to day living. Good quality properly assessed and fitted equipment can make big differences to individuals. Poor seating posture for example (either at a school desk or in a wheelchair) can lead to back pain, hip pain and potentially fractures in the back.

More information on Osteogenesis Imperfecta is available from our factsheets on this website or for more detailed information you can visit the OI Foundation in the USA www.oif.org

A Positive Association found between Autism Prevalence and Childhood Vaccination uptake across the U.S. Population


Research: From the Superb to the Questionable


Practice Essentials


Sheets, L. K. et al 2013 Sentinel Injuries in Infants Evaluated for Child Physical Abuse, Pediatrics, 11 March.

Judge: parents were too besotted to hurt children -PAIN AND BACHE SOLICITORS CASE WIN

A judge has refused to allow social workers to take three children with serious and apparently unexplained injuries into care after seeing that their parents were “simply dotty about them”.

Judge: I can't believe parents harmed children, I can see they are 'simply dotty about them'

Staff at the Royal Devon and Exeter Hospital first raised the alarm in the summer of 2011  Photo: PA

Mr Justice Baker ruled that even though the injuries looked suspicious, there was “not one scintilla” of evidence that their parents had deliberately inflicted them, other than the injuries themselves.

In an unusually frank admission, he told the court that he accepted he “may be wrong” and that the parents might have lost control and hurt them.

But he said had been swayed by seeing how evidently “besotted” they were and was convinced it was unlikely.

Instead, he said, the balance of evidence pointed to a rare combination of medical factors, including an inherited condition which can cause soft bones.

In a judgment handed down at the High Court in London, he set out how the children, a twin girl and boy aged two and a boy aged 13 months, from Devon, had suffered an array of including broken ribs and internal bleeding.

It was clear, from medical investigations that they had been caused on more than one occasion.

But, crucially, despite the severity of the injuries, there had never been any bruising or other external sign of abuse.

Staff at the Royal Devon and Exeter Hospital first raised the alarm in the summer of 2011 when the twin girl was brought in after collapsing and was found to have a subdural haemorrhage and fractures. Her twin brother was later also found to have haemorrhages and nine rib fractures.

Investigations began and care proceedings begun, although the twins were eventually sent to live with grandparents.

The twins’ younger brother was born in April 2012 ad was also later admitted to hospital with skull fractures and a subdural haemorrhage.

The judge said doctors had been right to raise the alarm and that social workers had been right to initiate care proceedings.

But, the more the parents’ complex medical history was investigated, the more it became clear that there might be an alternative explanation.

Even more significantly, he was struck by a mass of evidence of normal and happy family life which carried on during the 19-month investigation – including 19 albums of family photographs and a bulging scrapbook of children’s artwork.

“I bear in mind, of course, the importance of not reading too much into photographs, but I do consider that the albums produced by the parents, and the enormous art book proudly produced by the mother in the course of the evidence, are significant evidence demonstrating how much these parents love their children,” he said.

“They were, and are, besotted with them.”

He added: “It is an important part of the evidence in this case that, save for the injuries, there is not one scintilla of criticism of the way in which the mother and father have cared for these children.”

He said it was clear in hundreds of smiley photographs that the children were happy and well cared for.

“Put simply, this couple are simply dotty about their children,” he said.




Watchdog report: Shaken-baby triad still rules in New York courts



Watchdog report: Shaken-baby science doubts grow



Editorial: Is ‘shaken baby syndrome’ shaky science?