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Fragile X Syndrome - causes, symptoms, diagnosis, treatment, pathology

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Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2.

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There is no cure for the disease but victims take medications such as sedative which keeps them calm and drowsy. Muscle relaxant which reduces muscle tension and other vitamins. Patients of this disorder have to go through therapies such as behavior therapy that reduces the stress.

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Fragile X Research - FRAXA Research Foundation

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What is Fragile X Syndrome? * Fragile X Research - FRAXA Research Foundation

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Fragile X syndrome is the most common inherited cause of intellectual disabilities. It's the most common known cause of autism. The FMR1 gene shuts down.

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Fragile X Syndrome impaired speech and language. Followed by learning disabilities, ADD (Attention Deficit Disorder) Anxiety, hyperactivity, fidgeting with things, impulsive actions, possibly autism and about 15% of males suffer from seizures and about 5% of females suffer seizures. The physical problems caused by the disease are a long and narrow face, large ears, flat feet, prominent jaw and forehead and flexible fingers

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Synapses is the connection between nerve cells which is crucial for nerve impulses. This is very important because this is the reaction timer. When something happens, the timer will go off to alert the brain what happened. Without synapses, you will have very late reaction times or maybe no reactions at all

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https://ghr.nlm.nih.gov/condition/fragile-x-syndrome#genes

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Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face , large ears, a prominent jaw and forehead, unusually flexible fingers, , and in males, enlarged testicles (macroorchidism) after puberty.

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What are the treatments for Fragile X syndrome?

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There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills.

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Fragile X Syndrome is a genetic disease that is affected in both buys and girls. This genetic disease is more severe in males than females. If a baby has this, by the age of 2, the baby will start to have a delay of speech and language.
This inherited condition is characterized by the X chromosome. This Disorder usually leaves the victim mentally handicapped.

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https://www.verywell.com/what-is-a-synapse-2795867

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In the central nervous system, a synapse is a small gap at the end of a neuron that allows a signal to pass from one neuron to the next. Synapses are found where nerve cells connect with other nerve cells. Synapses are key to the brain's function, especially when it comes to memory.

What Synapses Do

When a nerve signal reaches the end of the neuron, it cannot simply continue to the next cell. Instead, it must trigger the release of neurotransmitters which can then carry the impulse across the synapse to the next neuron.

Once a nerve impulse has triggered the release of neurotransmitters, these chemical messengers cross the tiny synaptic gap and are taken up by receptors on the surface of the next cell. These receptors act much like a lock, while the neurotransmitters function much like keys. Neurotransmitters may excite the neuron they bind to or inhibit it.

Think of the nerve signal like the electrical current, and the neurons like wires. Synapses would be the outlets or junction boxes that connect the current to a lamp (or other electrical appliance of your choosing), allowing the lamp to light.

The Parts of the Synapse

Synapses are composed of three main parts:

The presynaptic ending that contains neurotransmitters

The synaptic cleft between the two nerve cells

The postsynaptic ending that contains receptor sites

An electrical impulse travels down the axon of a neuron and then triggers the release of tiny vesicles containing neurotransmitters.

These vesicles will then bind to the membrane of the presynaptic cell, releasing the neurotransmitters into the synapse. These chemical messengers cross the synaptic cleft and connect with receptor sites in the next nerve cell, triggering an electrical impulse known as an action potential.

Types

There are two main types of synapses:

Chemical Synapse: The first is the chemical synapse in with the electrical activity in the presynaptic neuron triggers the release of chemical messengers, the neurotransmitters. The neurotransmitters diffuse across the synapse and bind to the specialized receptors of the postsynaptic cell. The neurotransmitter then either excites or inhibits the postsynaptic neuron. Excitation leads to the firing of an action potential while inhibition prevents the propagation of a signal.

Electrical Synapses: In this type, two neurons are connected by specialized channels known as gap junctions. Electrical synapses allow electrical signals to travel quickly from the presynaptic cell to the postsynaptic cell, rapidly speeding up the transfer of signals. The gap between electrical synapses is much smaller than that of a chemical synapse (about 3.5 nanometers compared to 20 nanometers). The special protein channels that connect the two cells make it possible for the positive current from the presynaptic neuron to flow directly into the postsynaptic cell.

Electrical synapses transfer signals much faster than chemical synapses. While the speed of transmission in chemical synapses can take up to several milliseconds, the transmission at electrical synapses is nearly instantaneous.

Where chemical synapses can be excitatory or inhibitory, electrical synapses are excitatory only.

While electrical synapses have the advantage of speed, the strength of a signal diminishes as it travels from one cell to the next. Because of this loss of signal strength, it requires a very large presynaptic neuron to influence much smaller postsynaptic neurons. Chemical synapses may be slower, but they can transmit a message without any loss in signal strength. Very small presynaptic neurons are also able to influence even very large postsynaptic cells.

History

The term synapse was first introduced in 1897 by physiologist Michael Foster in his "Textbook of Physiology" and is derived from the Greek synapsis, meaning "conjunction."
Freberg LA. Discovering Behavioral Neuroscience. Boston: Cengage Learning. 2016. Freberg LA. Discovering Biological Psychology, Second edition. Belmont, CA: Wadsworth, Cengage Learning. 2010

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In the central nervous system, a synapse is a small gap at the end of a neuron that allows a signal to pass from one neuron to the next. Synapses are found where nerve cells connect with other nerve cells. Synapses are key to the brain's function, especially when it comes to memory.

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Fragile X Syndrome is caused by the mutations in the FMR1 gene that provides instructions in making protein called FMRP. This protein helps the production of other proteins. This also plays a role is the development of synapses. This mutation is also caused in the DNA segment of live. The DNA triplet CGG is extended from normally repeated 5-40 times to over 200 times in a victim. This action basically turns off the FMR1 gene which makes the victim produce less of the FMRP which disrupts the nervous system causing effects of the disorder.

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While it has long been known that individuals with Fragile X syndrome (FXS) often exhibit characteristics of autism spectrum disorder (ASD), only recently has the possibility been raised that the two conditions may have considerably more overlap than previously thought. Scientists at various Fragile X (FX) centers are studying whether this overlap may extend beyond mere behavioral similarities and perhaps include genetic or biological components as well. That research may prove to have far-reaching effects.

Meanwhile, parents, educators and clinicians in the FX field have continued to note the similarities and differences between the two conditions so they can plan appropriate interventions based on the specific characteristics and needs of each individual. It was in that spirit that a well-attended panel discussion at the 13th International Fragile X Conference in Miami pondered the topic: FXS and ASD: Clinical Insights into the Similarities and Differences for Diagnosis and Treatment.

The discussion provided clinical perspectives on the behavioral differences between FXS and what are thought to be core features of ASD. There is still much to be learned about identifying behaviors that suggest the presence or absence of ASD in FXS.

As the science advances, researchers and clinicians will achieve a deeper understanding of the overlap between the two conditions, and how that overlap affects both of them. Moderator Vicki Sudhalter, PhD, led a distinguished panel of clinicians that included Tracy Stackhouse, MA/OTR, Sarah Scharfenaker, MA-CCC-SLP, Walter Kaufman, MD, and Richard Belser, PhD. Here are the key points that came out of the panel discussion:

Fragile X syndrome causes a range of functioning across domains. It is a specific, identifiable condition with a known genetic cause. Autism spectrum disorder is identified by a cluster of symptoms rather than a specific condition, and is believed to have many causes, most of them unknown. There is overlap, in that some individuals with FXS have ASD, and some do not, though FXS is known to be the leading known single gene cause of ASD.

Clinicians must understand the differences between the two conditions in order to avoid misdiagnosis and improper treatment. Likewise, clinicians must appreciate the similarities. Harnessing what is known about ASD in particular, given its larger cache of treatment strategies, can help advance treatment and educational plans as appropriate.

The core deficit in ASD is social interaction. The core deficit in FXS is intellectual function and hyperarousal/anxiety. A key point related to these differences: People with FXS tend to be deeply desirous of human interaction, but the social anxiety that also typifies the condition often causes them to act otherwise, which prevents success. People with ASD are largely unaware of the function others serve in relation to themselves, hence they rarely seek social interaction.

Eye contact is a key element of social interaction, and though "poor" eye contact is symptomatic of both FXS and ASD, the type of eye contact is substantially different. People with FXS tend to avoid eye contact, looking off in another direction to cope with their social anxiety, while people with ASD are unaware of why they should use eye contact as a source of information or interaction. Insisting on eye contact with those who have FXS is most always counterproductive, leading to greatly heightened anxiety.

Even when avoiding eye contact, people with FXS tend to be acutely aware of their surroundings. Like a good politician or salesperson, a person with FXS can read a room effectively, accurately gauging others' moods and anxiety levels. They long to participate, to joke and be joked with. They want to be inside a social circle-but they typically need a great deal of acceptance, invitation and training to be successful at it. In contrast, people with ASD more often really do want to be left alone.

Imitation is generally a strength for those with FXS and not often seen in people with ASD. If imitation is not seen in those with FXS, it should be an impetus to conduct additional testing and treatment plans.

Teachers and caregivers often say they don't need to know about FXS because they have previously had children with ASD in their classes or homes. But interventions appropriate for children with FXS may be quite different from those appropriate for children with ASD. For example, a shaping procedure is often used to increase eye contact in children with ASD. In contrast, our experience with children with FXS has shown us that working to increase eye contact in this population can be counterproductive.

Both FXS and ASD are typified by repetitive behaviors, but in FXS, this is most commonly manifested as hand-flapping and body-stiffening. Those with FXS tend to exhibit repetitive behaviors due to excitement, anxiety, or difficulty "stopping" or inhibiting their behavior. People with ASD engage in those behaviors as well, but for more varied reasons.

At base, most FXS behavioral issues are traceable to the twin challenges of managing anxiety and hyperarousal. Autism spectrum disorder is more complex and multi-faceted in its behavioral roots and manifestations, thereby making it essential to delineate the function of the behavior before formulating a treatment plan.

The crucial point for teachers, therapists and others involved in the care of those with FXS is not to lump them in with ASD as more or less a common diagnosis requiring a common set of interventions. Fragile X syndrome is still best treated utilizing what is known specifically about the condition.

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While it has long been known that individuals with Fragile X syndrome (FXS) often exhibit characteristics of autism spectrum disorder (ASD), only recently has the possibility been raised that the two conditions may have considerably more overlap than previously thought.