Information for the Media

The Fragile X Society is pleased to provide members of the press, TV and radio with:

  • comment on breaking news
  • information on fragile X
  • families for interview
  • fragile X experts for interview
  • photographs
  • video clips

Call Steve Harris, Press Officer on 01371 875100, or Contact Us

Information for journalists.

The rest of this page contains  outline information that should provide a basis for journalists who wish to familiarise themselves with pertinent facts about fragile X, and about The Fragile X Society.

Further information about each item can be found in the other pages of this site.


 

Key Facts

Fragile X is:

  • The most common inherited cause of learning disabilities
  • It affects 1 in 4000 boys and 1 in 6000 girls
  • Wide ranging in its effects from mild to severe learning disabilities
  • Both males and females can be carriers
  • It is found in all populations and ethnic groups

Presenting features:

  • Developmental delay/learning disabilities
  • Speech and language delay
  • Short attention, easily distracted, impulsive, often with hyperactivity
  • Poor eye contact, anxiety in social situations often leading to tantrums, insistence on familiar routines,
  • Hand flapping or hand biting
  • 20% of people with fragile X also have epilepsy

Diagnosis is made:

  • by a Fragile X DNA test arranged by paediatrician or clinical geneticist.

What is fragile X?

Fragile X is the most common known cause of inherited learning disbility, affecting 1 in 4000 boys and 1 in 6000 girls.

The gene that causes fragile X is found at the tip of the X chromosome and appears as a “fragile” site – hence the name “Fragile X Syndrome”.

Fragile X shows itself in a wide range of difficulties, ranging from  mild to severe intellectual disability, social anxiety, difficulties with speech and language; as well as causing social, language, emotional and behavioural problems.

Most striking are the behaviours which include short attention span, impulsiveness, overactivity, dislike of eye contact, anxiety in social situations often leading to tantrums, need for a familiar routine, repetitive speech and hand flapping or hand biting.

A minority of individuals with fragile X also have autism.

Speech and language is usually delayed with continuing speech difficulties.

Some children and adults develop epilepsy.

Physical features associated with fragile X include a long narrow face with prominent ears but these features are seldom so marked as to give an unusual appearance and may not be present at all. It is because of this lack of obvious physical features that diagnosis is often missed or delayed.

What causes fragile X? - A History

Fragile X has probably been around for many centuries.

First seen under the microscope in 1969, it was not until 1977 that doctors made the link between the abnormal "fragile" site on the X chromosome with the particular problems of delayed development and behavioural difficulties that was increasingly being recognised in boys.

It was, therefore, only about thirty years ago that the existence of Fragile X Syndrome was acknowledged by the medical profession, which makes it a relatively new condition in medical terms and explains why many people have still not heard of fragile X.

Once Fragile X Syndrome was recognised as a distinct condition, cases were diagnosed all over the world. It soon became clear that it is a common syndrome, affecting both males and females and it is found in all populations and ethnic groups.

A major breakthrough for fragile X occurred in 1991 when the gene which causes fragile X was discovered.

Testing for Fragile X

Fragile X is diagnosed by a simple blood test.

The discovery of the fragile X gene in 1991 led to the development of reliable DNA tests which can be used to identify affected individuals and carriers as well as for prenatal diagnosis.

As it is a genetically inherited condition, when one child in a family is diagnosed with fragile X, there are enormous implications for the parents, brothers and sisters of the child and for many other relatives.

In some families, fragile X has been the cause of learning difficulties in relatives through several generations, while in others it can cause problems in only one person.

Importance of diagnosis

Many fragile X children and adults remain undiagnosed – a situation which denies them access to the understanding and special care that should follow a diagnosis.

Children and adults need the diagnosis so that appropriate medical, educational, psychological and social help can be given.

And for the family – there may be many relatives, both male and female, who may be unknowing carriers of the syndrome and who should be offered genetic counselling.

Impact of fragile X on families

Few people have heard of fragile X and still many doctors know little about it. Parents when told their child has fragile X experience a devastating sense of isolation and ignorance. To learn that you have a 1 in 2 chance of having further children affected by the syndrome, or who may be carriers, can be very difficult to accept.

What does the Society do?

Provide support and information for families and professionals

Most families contacting the Society for the first time are parents of newly diagnosed children. They come to the Society with the very natural reaction of wanting to speak to another parent who has a child with fragile X.

Through its Link Family Members, who are all parents and relatives of children and adults who have fragile X, the Society provides immediate and on-going support to fragile X familiy members from others who share and understand their concerns.

In addition to this the families are also supported by 2 professional Family Support Workers.

Provide support for children and adults (in Scotland only)

Sandra Thoms is the Family Support Worker who deals with all enquiries about both children and adults for our families who live in Scotland. She can be contacts on 07825050072 or at sandra@fragilex.org.uk.

Provide support for children (all areas except Scotland)

Wendy Bowler is the Family Support Worker who deals with enquiries about children (anyone up to the age of 18). She can be contacted on 01371 875100 or at wendy@fragilex.org.uk She can provide information on a range of issues including education; speech, language and communication; behaviour; sensory issues. 

She takes calls from families who have children affected by fragile X. By contacting her families can get information and support tailored to a child’s individual need. She can also talk to and give information on fragile X to other professionals working with the child.

Wendy also take enquiries from a range of professionals including teachers, SENCOs, teaching assistants, Educational Psychologists, Speech and Language Therapists, GPs – in fact absolutely anyone working with a child affected by fragile X. Again contacting her directly will enable her to give the information and support most suited to the needs of the young person. 

Provide support for adults (all areas except Scotland)

Jane Oliver is the Family Support Worker who deals with enquiries about adults. She can be contacted on 01371 875100 or at jane@fragilex.org.uk.

Jane takes calls from families whose adult relatives are affected by Fragile X. By contacting her directly families can receive a more individual response to their enquiries. She is also happy to talk to and give information to other professionals supporting the individual.

She is also happy to take enquiries from social workers, support workers or any professionals involved with supporting an adult affected by Fragile X. By contacting her directly professionals will be able to access information and support more tailored to that individual’s needs.


Provide detailed information about fragile X and all related areas

The Society also provides access to a full range of information about the syndrome, including the latest medical, psychological and educational research findings. With a fuller understanding of the condition parents feel they can be far more constructive and effective in helping their children to reach their full potential.

The Fragile X Society

The Society was establised in 1990 by a group of parents whose children had been diagnosed with fragile X. At this time there was nowhere to go for inforamtion about fragile X, or for support from other families. It now has over 1700 members and has responded to over 23,500 enquiries.

In addition to its introductory booklets and over 100 papers (written by researchers, family support workers, and professionals who are experts in their fields) about specific aspects of fragile X, the has Society also published its first book “Educating Children with Fragile X Syndrome” and has an award-winning DVD entitled “The Fragile X Syndrome”.

In June 2004 the Fragile X Society was awarded The Queen’s Golden Jubilee Award for Voluntary Service in the Community.

In April 2008 The Fragile X Society was one of ten winning charities of the GlaxoSmithKline IMPACT Awards. According to the judges, 'This parent-led and highly committed organisation deserves to be awarded the GSK IMPACT award in recognition of the information and support it provides to families affected by fragile X syndrome'.


For further information please contact
Steve Harris
Press Officer
Fragile X Society
Telephone: 01371 875100

Or go to Contact Us

The Fragile X Society is pleased to provide members of the press, TV and radio with:

  • comment on breaking news
  • information on fragile X
  • families for interview
  • fragile X experts for interview
  • photographs
  • video clips

Call Steve Harris, Press Officer on 01371 875100, or Contact Us

Information for journalists.

The rest of this page contains  outline information that should provide a basis for journalists who wish to familiarise themselves with pertinent facts about fragile X, and about The Fragile X Society.

Further information about each item can be found in the other pages of this site.


 

Key Facts

Fragile X is:

  • The most common inherited cause of learning disabilities
  • It affects 1 in 4000 boys and 1 in 6000 girls
  • Wide ranging in its effects from mild to severe learning disabilities
  • Both males and females can be carriers
  • It is found in all populations and ethnic groups

Presenting features:

  • Developmental delay/learning disabilities
  • Speech and language delay
  • Short attention, easily distracted, impulsive, often with hyperactivity
  • Poor eye contact, anxiety in social situations often leading to tantrums, insistence on familiar routines,
  • Hand flapping or hand biting
  • 20% of people with fragile X also have epilepsy

Diagnosis is made:

  • by a Fragile X DNA test arranged by paediatrician or clinical geneticist.

What is fragile X?

Fragile X is the most common known cause of inherited learning disbility, affecting 1 in 4000 boys and 1 in 6000 girls.

The gene that causes fragile X is found at the tip of the X chromosome and appears as a “fragile” site – hence the name “Fragile X Syndrome”.

Fragile X shows itself in a wide range of difficulties, ranging from  mild to severe intellectual disability, social anxiety, difficulties with speech and language; as well as causing social, language, emotional and behavioural problems.

Most striking are the behaviours which include short attention span, impulsiveness, overactivity, dislike of eye contact, anxiety in social situations often leading to tantrums, need for a familiar routine, repetitive speech and hand flapping or hand biting.

A minority of individuals with fragile X also have autism.

Speech and language is usually delayed with continuing speech difficulties.

Some children and adults develop epilepsy.

Physical features associated with fragile X include a long narrow face with prominent ears but these features are seldom so marked as to give an unusual appearance and may not be present at all. It is because of this lack of obvious physical features that diagnosis is often missed or delayed.

What causes fragile X? - A History

Fragile X has probably been around for many centuries.

First seen under the microscope in 1969, it was not until 1977 that doctors made the link between the abnormal "fragile" site on the X chromosome with the particular problems of delayed development and behavioural difficulties that was increasingly being recognised in boys.

It was, therefore, only about thirty years ago that the existence of Fragile X Syndrome was acknowledged by the medical profession, which makes it a relatively new condition in medical terms and explains why many people have still not heard of fragile X.

Once Fragile X Syndrome was recognised as a distinct condition, cases were diagnosed all over the world. It soon became clear that it is a common syndrome, affecting both males and females and it is found in all populations and ethnic groups.

A major breakthrough for fragile X occurred in 1991 when the gene which causes fragile X was discovered.

Testing for Fragile X

Fragile X is diagnosed by a simple blood test.

The discovery of the fragile X gene in 1991 led to the development of reliable DNA tests which can be used to identify affected individuals and carriers as well as for prenatal diagnosis.

As it is a genetically inherited condition, when one child in a family is diagnosed with fragile X, there are enormous implications for the parents, brothers and sisters of the child and for many other relatives.

In some families, fragile X has been the cause of learning difficulties in relatives through several generations, while in others it can cause problems in only one person.

Importance of diagnosis

Many fragile X children and adults remain undiagnosed – a situation which denies them access to the understanding and special care that should follow a diagnosis.

Children and adults need the diagnosis so that appropriate medical, educational, psychological and social help can be given.

And for the family – there may be many relatives, both male and female, who may be unknowing carriers of the syndrome and who should be offered genetic counselling.

Impact of fragile X on families

Few people have heard of fragile X and still many doctors know little about it. Parents when told their child has fragile X experience a devastating sense of isolation and ignorance. To learn that you have a 1 in 2 chance of having further children affected by the syndrome, or who may be carriers, can be very difficult to accept.

What does the Society do?

Provide support and information for families and professionals

Most families contacting the Society for the first time are parents of newly diagnosed children. They come to the Society with the very natural reaction of wanting to speak to another parent who has a child with fragile X.

Through its Link Family Members, who are all parents and relatives of children and adults who have fragile X, the Society provides immediate and on-going support to fragile X familiy members from others who share and understand their concerns.

In addition to this the families are also supported by 2 professional Family Support Workers.

Provide support for children and adults (in Scotland only)

Sandra Thoms is the Family Support Worker who deals with all enquiries about both children and adults for our families who live in Scotland. She can be contacts on 07825050072 or at sandra@fragilex.org.uk.

Provide support for children (all areas except Scotland)

Wendy Bowler is the Family Support Worker who deals with enquiries about children (anyone up to the age of 18). She can be contacted on 01371 875100 or at wendy@fragilex.org.uk She can provide information on a range of issues including education; speech, language and communication; behaviour; sensory issues. 

She takes calls from families who have children affected by fragile X. By contacting her families can get information and support tailored to a child’s individual need. She can also talk to and give information on fragile X to other professionals working with the child.

Wendy also take enquiries from a range of professionals including teachers, SENCOs, teaching assistants, Educational Psychologists, Speech and Language Therapists, GPs – in fact absolutely anyone working with a child affected by fragile X. Again contacting her directly will enable her to give the information and support most suited to the needs of the young person. 

Provide support for adults (all areas except Scotland)

Jane Oliver is the Family Support Worker who deals with enquiries about adults. She can be contacted on 01371 875100 or at jane@fragilex.org.uk.

Jane takes calls from families whose adult relatives are affected by Fragile X. By contacting her directly families can receive a more individual response to their enquiries. She is also happy to talk to and give information to other professionals supporting the individual.

She is also happy to take enquiries from social workers, support workers or any professionals involved with supporting an adult affected by Fragile X. By contacting her directly professionals will be able to access information and support more tailored to that individual’s needs.


Provide detailed information about fragile X and all related areas

The Society also provides access to a full range of information about the syndrome, including the latest medical, psychological and educational research findings. With a fuller understanding of the condition parents feel they can be far more constructive and effective in helping their children to reach their full potential.

The Fragile X Society

The Society was establised in 1990 by a group of parents whose children had been diagnosed with fragile X. At this time there was nowhere to go for inforamtion about fragile X, or for support from other families. It now has over 1700 members and has responded to over 23,500 enquiries.

In addition to its introductory booklets and over 100 papers (written by researchers, family support workers, and professionals who are experts in their fields) about specific aspects of fragile X, the has Society also published its first book “Educating Children with Fragile X Syndrome” and has an award-winning DVD entitled “The Fragile X Syndrome”.

In June 2004 the Fragile X Society was awarded The Queen’s Golden Jubilee Award for Voluntary Service in the Community.

In April 2008 The Fragile X Society was one of ten winning charities of the GlaxoSmithKline IMPACT Awards. According to the judges, 'This parent-led and highly committed organisation deserves to be awarded the GSK IMPACT award in recognition of the information and support it provides to families affected by fragile X syndrome'.


For further information please contact
Steve Harris
Press Officer
Fragile X Society
Telephone: 01371 875100

Or go to Contact Us

Charity registration number 1127861 - The Fragile X Society Registered Charity and Limited Company Registered in England
Company registration number 6724061 - Registered office: Rood End House, 6 Stortford Road, Great Dunmow, Essex CM6 1DA
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