- Diseases, Disorders & Conditions
Does my child have Autism or Fragile X Syndrome?
What is Fragile X Syndrome exactly?
Fragile X Syndrome facts
Fragile X Syndrome explained
In 1991 scientists discovered the FMR1 gene. This was then later identified as being the cause of Fragile X Syndrome. Scientists also discovered that it was the number of repeats of the so called FMR1 gene that would determine the level of impairment a person would be likely to have because of this defective gene.
Note: Please see diagrams to the right.
Diagram 1: shows the that the FMR1 gene is found at the tip of the X chromosome.
Diagram 2: shows 5 to 51 repeats and people carrying the gene in this range are considered to be normal and should usually be totally unaffected.
Diagram 3: Shows between 50 and 200 people with this level of repeats are said to be ‘Premutation,’ carriers of the Fragile X gene. So although they do not have Fragile X Syndrome they may still be affected by some physical manifestations of carrying the Fragile X gene or they may also have some degree of mild cognitive impairment. 1 in 260 females are in this range.
Diagram 4: Shows a case of fully blown Fragile X Syndrome i.e. in excess of 200 repeats of the FMR1 gene. At this stage a vital protein for the brains development is cut off and this referred to as the gene becoming fully methylated. At this stage the brain usually is not able to develop properly without this protein and we see many impairments which is collectively known as a case of Fragile X Syndrome.
Note: Mostly when we hear about Fragile X Syndrome it is people in this range i.e. those that have more than 200 repeats of the FMR1 gene and are considered to have a full case of Fragile X Syndrome.
The Fragile X gene is hereditary and can be passed on through many generations of a family before the gene mutates to over 200 repeats and begins to cause obvious symptoms. This is often the first confirmed case of Fragile X Syndrome within a family.
However here in Ireland due to the current restrictions on Fragile X testing which can be viewed here at this link http://www.genetics.ie/molecular/frax/ many children are currently likely to never receive a correct diagnosis for their condition.
Instead many children in Ireland are most likely to be misdiagnosed with some other condition such as Global Developmental Delay or an Intellectual Disability of unknown cause, or Developmental Delay of unspecified origin, or quite often the diagnosis might be an Autism Spectrum Disorder.
33% of people with Fragile X Syndrome also meet the full diagnostic criteria for Autism. definition Another 33% meet the diagnostic criteria for a diagnosis of Pervasive Developmental Disorder Not otherwise Specified i.e. when a child has some strong autistic characteristics in certain areas but not in the right consistency to be considered classically autistic.
Hereditary Pattern of Fragile X Syndrome:
Generally speaking men that carry the Fragile X gene can pass it onto all of their daughters but none of their sons. However every child of a woman carrying the gene has a 50/50 chance of inheriting the gene. Boys though are usually more severely affected by the Fragile X gene because girls naturally have an additional X chromosome which often largely compensates for the other damaged one. But boys only have one x chromosome so when this one is ineffective their brains cannot develop properly. The hereditary pattern of Fragile X Syndrome can very though and sometimes if both parents are premutation carriers of the Fragile X gene then there can be a different hereditary pattern noted.
Diagnosing Fragile X Syndrome in Ireland
Here in Ireland diagnosing Autism or Fragile X Syndrome is a very complicated, arduous process. Initially a severely affected child will first be referred for an Autism assessment and must go through this whole process before even being referred for a Fragile X test which is m=normally only explained to parents as a test to just rule out a genetic cause. However most parents are totally unaware that their child's blood samples are rarely if ever tested for Fragile X because of the restrictions on testing for Fragile X Syndrome in Ireland at present .
When you request a Fragile X test getting a diagnosis of Fragile X Syndrome is supposed to be very straight forward. The FMR1 DNA Test should now be able to tell you rather quickly whether your child carries the Fragile X gene or not. That’s all very well and good until you go about trying to obtain a Fragile X test in Ireland and personally two years later after wading through mounds of paperwork and being told a number of conflicting stories in relation to my son's Fragile X test am still none the wiser and am being refused to be even allowed to talk to any Clinical Geneticist in this country. That however is another story for another day.
Below is a link to Irelands only facility that apparently tests children for Fragile X Syndrome. I say ‘apparently,’ because like a lot of things in Ireland when you actually read the small print it becomes obvious that most children who could have Fragile X Syndrome and would benefit greatly from having a Fragile X test in Ireland are in fact excluded from being given one.
Currently in Ireland there are severe restrictions in place on the testing for Fragile X Syndrome in Ireland's only testing facility i.e. The National Centre for Medical Genetics based at Crumlin Hospital in Dublin. Restrictions are listed here http://www.genetics.ie/molecular/frax/
So how do you get a Fragile X Syndrome test when you live in Ireland? The current answer is I don’t know so if there is anyone out there who can enlighten me on this then please, please feel free to contact me.
So presently it would appear that because so many Special Needs children in Ireland cannot access a Fragile X Syndrome test (not sure how this pans out in most other countries?) then there are in fact many children out there who may have a current diagnosis of Autism, Autism Spectrum Disorder, Pervasive Developmental Disorder (Not otherwise specified), Global Developmental Delay, ADHD, Dyslexia, Dyspraxia, Aspergers Syndrome, Speech Delay, Epileptic Seizures, Intellectual Disabilities and many other conditions who in fact will never know that that they have this condition because of an inherited gene known as the Fragile X gene. Therefore many other family members who are also at risk will never know either.
The president of the Irish Fragile X Society is Maria Panza and on speaking to her she says there are currently no restrictions on Fragile X testing in Ireland that she is aware of? So it appears nothing can be done at present to help Irish Children receive a Fragile X Syndrome.
So what is Fragile X Syndrome exactly?
The Genetic Disease Foundation defines Fragile X Syndrome as follows:
Fragile X Syndrome (FXS) is the most common inherited form of mental retardation. Symptoms, which are typically milder in females than in males, include behavioural and/or emotional problems (including autistic-like features) and varying degrees of mental impairment. Some affected males also have subtle physical abnormalities.
Fragile X Syndrome is an X-linked condition caused by a mutation on the FMR1 gene on the X chromosome. It is usually inherited from a mother who is a carrier of the condition.* Males who inherit the Fragile-X mutation are generally affected, though the severity of their symptoms can vary. About half of females who inherit the full mutation are affected.
FXS occurs in all ethnic groups, affecting an estimated 1 in 4000 males and 1 in 6000 females. Approximately 1 in 100 to 250 women in the general population are Fragile X carriers and at risk of having children with Fragile X Syndrome but we never hear anything about this in the Irish media.
Learn about genetic testing for Fragile X Syndrome on the GDF’s Know Your Genes website
Fragile X Syndrome usually includes deficits in the following areas:
1. Intelligence and learning:
All people with Fragile X Syndrome will have some degree of Intellectual Function Impairment. Many children with Fragile X Syndrome are sometimes misdiagnosed as having ADHD (Attention Deficit Hyperactivity Disorder) as children with FXS will also often be hyperactive, unfocused, get frustrated easily, be very anxious in social settings and boys will usually have a marked Speech Delay although this doesn’t always seem to be the case for girls. Often people with FXS will also have a particular difficulty with understanding Maths. Often they may also not be able to read maps and often have a terrible sense of direction.
Usually it is also normally assumed that a male with Fragile X Syndrome will have a lower than average IQ and may not perform as well as expected in a Cognitive ability test. The average IQ level in a man with FXS is usually believed to be somewhere between 40 and 85. This is classed as being in the mild to moderate range of mental impairment.
However because girls have an extra X Chromosome to compensate for the damaged one they are usually a lot less affected cognitively and often have a substantially higher I.Q than their male counterparts
Generally speaking all people with Fragile X Syndrome can often have areas of particular strength and weakness. Many are very good at remembering pictures and visual patterns and this often means that they may be excellent spellers and readers. Like autistic people many ‘think in pictures,’ and respond best to visual prompts and instructions.
However their weaknesses may include an inability to plan ahead, organize their time and difficulty understanding abstract concepts or ideas.
2. Physical characteristics of Fragile X Syndrome
Note: There are certain physical markers that are often present in people affected by Fragile X Syndrome although more often than not these physical signs of the condition may not start to manifest themselves until a child is beginning puberty or in about 50% of cases the physical features of Fragile X Syndrome can often be very mild or unnoticeable.
Again physical manifestations of Fragile X do tend to be more common in boys than girls.
These traits can sometimes include:
· Larger or more prominent ears which may or may not protrude also.
· A high forehead and a long face with a prominent chin.
· The head may be larger than average.
· Eyelids may be creased or puffy in appearance.
· Eyes may bulge slightly.
· The nostrils can be larger than usual leading to a more prominent nose.
· Muscle tone can often be poor leading to hyper-extendable joints or a double chin etc.
· 50% larger testicles after the onset of puberty.
· Eye problems are also common which may lead to a squint sometimes this might only be noticeable in strong sunlight.
· The chest may look rather hollow.
· Flat feet or fallen arches are also often seen.
· Also a high arched mouth palate can also occur.
· Skin can be exceptionally smooth or soft.
· Middle Ear Infections or Glue Ear is common and grommets may be needed.
3. Social and Emotional Characteristics of Fragile X Syndrome
Practically all children with Fragile X Syndrome will have some degree of behavioural issues.
· Attention deficit issues are often seen and the child with Fragile X Syndrome is very hard to engage with and often has a very short attention span which makes teaching a challenge.
· They may resist any change and may become very anxious or stressed in new situations. Avoiding eye contact is also another common feature.
· Social and anxiety and shyness are also common. Sometimes in girls this may be the only obvious behavioural indicator of the condition.
· Aggression can also sometimes be an issue but more commonly in boys.
· Hand flapping and clothes biting or sucking can also often be noted especially when the child is anxious or excited.
· Mouthing non-food items due to sensory issues is also common.
4. Speech and language impairment in Fragile X Syndrome
Speech and language impairment is a very common feature of Fragile X Syndrome in boys. All boys with this condition will have some degree of Speech and Language impairment whether they also have autism or not.
· Girls however usually tend to not have any significant Speech and Language delay.
· Boys with Fragile X Syndrome have a tendency to repeat sounds incorrectly so that they may be speaking but nobody can understand them.
· Also they will often talk very fast and at an uneven rate this can often become more noticeable as they grow older.
5. Sensory issues and Fragile X Syndrome
While I have already touched on this issue already in summary Sensory issues tend to be a big issue for children with Fragile X Syndrome.
So what exactly are Sensory Integration problems?
Below is a brief definition of Sensory integration:
Sensory integration involves the ways we process and make sense of information coming in through each of our 5 senses. People with Fragile X, especially males, may be hypersensitive to sounds and noises, smells and tastes may be too strong for them, touch too intense and visual stimuli too much for them to process efficiently. In some cases the opposite may be true: they are hyposensitive and not getting enough stimuli.
What is Sensory Integration Therapy?
It is thought that Sensory Integration Therapy is vital for the child with Fragile X Syndrome, (unfortunately though here in Ireland Sensory Integration Therapy is not usually part of the state’s early intervention programs. Why you may ask? Well because of course according to Ireland’s powers that be ‘we don’t have hardly any Fragile X Syndrome in Ireland. We’re great here and we have sorted it all out by just not testing for it. Simple so go away now and we can just all go back to sticking our heads in the sand again and spending our borrowed money on bailing out all those nice bankers and property developers who need Ireland’s money so much more!’) Sorry I am ranting again, back to article.
Sensory Integration Therapy is all about calming the over stimulated child down because when a child is in a state of hyper arousal because of their over (or in some cases under) stimulated senses they cannot concentrate or learn.
Therefore the aim of Sensory Integration Therapy is to help reduce anxiety which should help to improve concentration and learning capabilities.
This in turn should lead to less inappropriate behaviour and enable the child to become more aware and in tune with other people and their surroundings.
Methods of Sensory Integration Therapy may include:
· Skin brushing.
· Deep pressure through things like wearing weighted vests or getting a weighted blanket.
· Using equipment such as swings, hammocks, mini trampolines and therapy (gym) balls.
· You can also get specially made objects to chew on.
· You can also create a quite area for your child or buy some calming objects and create your own sensory room.
Physical activity is also very important for the sensory challenged child as this can teach him to use his body in many different ways and help him to understand that he is a separate entity to his environment.
Physical Conditions commonly associated with the Fragile X gene
As already mentioned many conditions can be caused by having the Fragile X gene. Some conditions common in carriers of Fragile X are as follows:
- Premature Ovarian Failure i.e. ovaries stop functioning in the early forties.
- Female carriers are more likely to give birth to twins.
- 20 to 25% of female who are Fragile X Carriers can have FXPOI.
What Is FXPOI?
FXPOI stands for Fragile X Premature ovarian Insufficiency. Basically this means that awoman who is premutation carrier of the Fragile X gene may have ovaries that are notperforming at their full capacity. Common symptoms of this condition include light or no periods. The woman may also experience some menopausal symptoms such as hot flushes, early menopause and subsequent in fertility.
What Is FXTAS?
FXTAS stands for Fragile X Tremor Associated Disorder. This is a condition which is sometimes misdiagnosed as Parkinson's disease or Alzheimers. It is a neurological disorder which can cause tremors, memory loss, co-ordination problems and senility.
Medical Conditions common in people who are said to have Fragile X Syndrome:
- Middle Ear Infections i.e. Glue Ear
- Seizure Disorder – Epileptic
- Mitral Valve Prolapse – Heart murmur
- Joint problems
- Connective tissue issues, including dysplasia
- Scoliosis of the spine (research has indicated that those with Fragile X are often likely to have weaker spines than the general population).
Testing for Fragile X Syndrome:
Cytogenetic or Chromosome test:
Prior to 1991 the most common test for Fragile X Syndrome was a chromosome test i.e. a Cytogenetic test. The main problem with this test was that it was not highly accurate and it tended to give a false negative result in some cases.
THE FRAGILE X DNA TEST:
Since 1991 a test known as the FMR1 DNA test (sometimes known as the Fragile X DNA test) is the most usual and accurate test used to detect Fragile X Syndrome. This test can determine the actual size of the DNA expansion as well as specifically pinpointing other characteristics of the mutated gene that may indicate the severity of the Fragile X symptoms.
The Fragile X DNA Test can be administered in two ways:
The Southern analysis test can tell you if the gene has a full mutation i.e. more than200 repeats of the F.M.R.1 gene, as well as its approximate size and whether the genehas been methylated. It can also specify whether there is what is known as a mosaicism of the gene i.e. a mixture of different cell types.
Then there is the PCR Analysis method (Polymerase Chain Reaction) test. This method can detect a normal gene or a pre-mutation but is not an accurate test for diagnosing a full mutation of the FMR1 gene. The test results may show to beinconclusive in detecting a full mutation for a number of technical reasons. However this is often the test initially used due to time factors and cost. Ideally a test should include both of the above methods.
Living with Fragile X Syndrome
Mom on living with Fragile X Syndrome
Learn more about Fragile X Syndrome
Family affected by Fragile X Syndrome
- Fragile X: Unraveling Autism's Secrets - TIME
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