Chromosomal Differences
The Cri du Chat syndrome is a genetic disorder, meaning there is a difference on the chromosomal level, compared to a regular healthy individual.
Each human being has 23 pairs of chromosomes, adding up to 46 chromosomes in total (in each cell). Patients with Cri du Chat Syndrome have a deletion of a segment of chromosome 5. In 85-90% of cases, this genetic disorder is caused by a random mutation, also known as a "de novo" mutation (new mutation). The remaining cases are due to an inheritance of abnormal chromosomes from either the mother or the father. However, in 80% of the inherited cases, the abnormality in chromosomes is inherited paternally (from the father). This means that there was a deleted segment in chromosome 5 within the fathers sex cell that was used to create the child. |
Patients who inherited the disorder, have a 50% chance of passing it on to their offspring. The gene is neither dominant nor recessive, as it is not as extra chromosome but rather a deletion.
Patients with a 'de novo' case of the syndrome, have a <1% chance of passing it on to their offspring.
Each chromosome is made up of a long arm (q arm) and a short arm (p arm). Between these arms exists the centromere. For an individual with Cri du Chat Syndrome, the short arm of chromosome 5 (chromosome 5p) is partially or entirely lost.
Although the deleted material is microscopic in size, and may not seem like a big deal given the 45 other healthy chromosomes, the symptoms are very noticeable. The deleted segment of this particular chromosome is responsible for several areas of growth and development, leading to a slow, unsteady growth for the patient. (Tidy, 2014)
Patients with a 'de novo' case of the syndrome, have a <1% chance of passing it on to their offspring.
Each chromosome is made up of a long arm (q arm) and a short arm (p arm). Between these arms exists the centromere. For an individual with Cri du Chat Syndrome, the short arm of chromosome 5 (chromosome 5p) is partially or entirely lost.
Although the deleted material is microscopic in size, and may not seem like a big deal given the 45 other healthy chromosomes, the symptoms are very noticeable. The deleted segment of this particular chromosome is responsible for several areas of growth and development, leading to a slow, unsteady growth for the patient. (Tidy, 2014)
Prenatal Detection
Fortunately, the Cri du Chat syndrome can be diagnosed prenatally through either CVS (chorionic villus sampling) or amniocentesis. However, both procedures are only recommended for couples who have a history of Cri du Chat syndrome in their family tree, or have already had a child with Cri du Chat syndrome, due to the possible risk factors from each procedure. (medical-dictionary, 2008)
The process of CVS includes 2 methods: the transcervical method or the transabdominal method. Either way, both methods involve taking a sample of tissue (chorionic villus tissue) from the placenta, either through a tube through the cervix, or a needle through the abdomen. The transcervical method, however, has higher risk factors involving miscarriage. The sample of placenta tissue is then taken to a lab and tested for any abnormalities. (Zieve, 2012)
The process of amniocentesis is similar to the transabdominal method of CVS, as there is a needle inserted into the abdomen. However, this process includes removing a small sample of amniotic fluid, which surrounds the fetus in a sac-like organ. This amniotic fluid is then taken to a lab and tested for abnormalities.
Both fluids require 2 weeks in lab. None of these prenatal tests can give a 100% accurate diagnosis.
The process of CVS includes 2 methods: the transcervical method or the transabdominal method. Either way, both methods involve taking a sample of tissue (chorionic villus tissue) from the placenta, either through a tube through the cervix, or a needle through the abdomen. The transcervical method, however, has higher risk factors involving miscarriage. The sample of placenta tissue is then taken to a lab and tested for any abnormalities. (Zieve, 2012)
The process of amniocentesis is similar to the transabdominal method of CVS, as there is a needle inserted into the abdomen. However, this process includes removing a small sample of amniotic fluid, which surrounds the fetus in a sac-like organ. This amniotic fluid is then taken to a lab and tested for abnormalities.
Both fluids require 2 weeks in lab. None of these prenatal tests can give a 100% accurate diagnosis.
Characteristics
Here are some of the typical characteristics expected from a newly born child suffering from Cri du Chat syndrome.
Physical Traits: -Small Chin -Hip dislocation -Underweight -Weak muscles -Small head (Microcephaly) -Slow physical development/growth -Wide set eyes -Skin fold around inner eyes Cognitive Traits: -High pitched cry (similar to that of a cat, giving the syndrome its name) -Poor feeding capabilities (weak suck) As this disorder progresses, the individual tends to experience added physical and cognitive traits with age. Individuals grow to have: -Learning disabilities (vary) -Communication difficulties -Behavioural problems (violent acts such as punching, kicking, throwing pinching) -Difficulties walking, talking, eating and sleeping -Premature greying of hair -Downward slanting eyes -Skin webbing (connected fingers or toes) -Crease in palm (Simian Crease) -Low set ears -Skin tags (typically in front of ears) -Clustered teeth -Droopy jaw Some patients may only experience some of these symptoms, as every case slightly varies. There are also several internal symptoms such as organ malfunctions among some patients. Even though the syndrome is named after the obvious cat-like cry, patients tend to lose this trait as they mature. Patients suffering from Cri du Chat syndrome usually have a normal life expectancy, however the odd cases involving organ malfunctions will obviously have a minimized life expectancy, depending on which organs or systems are affected. (Tidy, 2014) |
Life and Familial Impact
It is clear that individuals battling Cri du Chat syndrome have several symptoms and unique traits that differentiate them from healthy human beings. But how do these traits affect the everyday lives and emotions of the patients as well as those surrounding them?
To begin, the patient must deal with various hardships every single day. The most difficult, being the difficulty or inability to express themselves through speech. It has been found that patients of Cri du Chat syndrome are much more intellectual than thought. They are able to understand most of what they see and hear. However, being unable to communicate, and being treated as incapable and unintelligent people, becomes very frustrating for them. This is also a large reason behind their learning disability tendencies. As they are unable to ask questions, or show that they understand, it is extremely difficult to learn in a healthy manner. Overall, this focal problem leads to many others, even behavioural issues such as violent actions out of frustration.
Additionally, patients are extremely dependent on one or a few individuals to get them through daily activities. Due to coordination difficulties, they are reliant on someone to feed them, bathe them, help them walk, etc. Over a period of time, this also becomes frustrating for the patient as they are incapable of being independent, and feel they are a burden on the ones they love.
Lastly, there are very obvious bullying/degrading issues involved when a patient has clear abnormal physical and cognitive characteristics. It is hard to make friends, and hard to be understood. As mentioned before, patients often understand what is being said to them, and do get a good sense of the world around them. Therefore, being seen as less, will affect the patient heavily, and may also lead to frustration and/or depression.
This genetic disorder also has a huge impact on the family and friends of the patient. Firstly, the diagnosed infant begins with the mewing, cat-like crying symptom. Parents or guardians of the infant must deal with the inhuman-like sounds coming from their child, which can be terrifying regardless of if they do or do not know their child's condition. This also adds stress and frustration to the already heavy-load of raising a child in general.
As the child matures age-wise, parents/family and friends must find methods to communicate with the patient. For example, parents may need to adapt the skill of sign language to speak to and understand their child. They may need to spend extra hours teaching their child basic knowledge such as the alphabet or counting.
Parents/family members must learn to be understanding, as their patience will truly be tested day by day. They must learn to discipline their child, while dealing with spurs of violent behaviours such as pinching, punching, spitting, kicking, etc. This usually causes a huge jump in stress levels for the family members.
Most families with a patient as a child need to have at least one stay at home parent, or hire a well-trusted nanny who can accommodate the patient at all times. This is required so that the patient can be bathed, fed, entertained, etc. To have someone be completely dependent on oneself can be extremely frustrating and lead to depression and spiked stress levels. (medical-dictionary, 2008)
To begin, the patient must deal with various hardships every single day. The most difficult, being the difficulty or inability to express themselves through speech. It has been found that patients of Cri du Chat syndrome are much more intellectual than thought. They are able to understand most of what they see and hear. However, being unable to communicate, and being treated as incapable and unintelligent people, becomes very frustrating for them. This is also a large reason behind their learning disability tendencies. As they are unable to ask questions, or show that they understand, it is extremely difficult to learn in a healthy manner. Overall, this focal problem leads to many others, even behavioural issues such as violent actions out of frustration.
Additionally, patients are extremely dependent on one or a few individuals to get them through daily activities. Due to coordination difficulties, they are reliant on someone to feed them, bathe them, help them walk, etc. Over a period of time, this also becomes frustrating for the patient as they are incapable of being independent, and feel they are a burden on the ones they love.
Lastly, there are very obvious bullying/degrading issues involved when a patient has clear abnormal physical and cognitive characteristics. It is hard to make friends, and hard to be understood. As mentioned before, patients often understand what is being said to them, and do get a good sense of the world around them. Therefore, being seen as less, will affect the patient heavily, and may also lead to frustration and/or depression.
This genetic disorder also has a huge impact on the family and friends of the patient. Firstly, the diagnosed infant begins with the mewing, cat-like crying symptom. Parents or guardians of the infant must deal with the inhuman-like sounds coming from their child, which can be terrifying regardless of if they do or do not know their child's condition. This also adds stress and frustration to the already heavy-load of raising a child in general.
As the child matures age-wise, parents/family and friends must find methods to communicate with the patient. For example, parents may need to adapt the skill of sign language to speak to and understand their child. They may need to spend extra hours teaching their child basic knowledge such as the alphabet or counting.
Parents/family members must learn to be understanding, as their patience will truly be tested day by day. They must learn to discipline their child, while dealing with spurs of violent behaviours such as pinching, punching, spitting, kicking, etc. This usually causes a huge jump in stress levels for the family members.
Most families with a patient as a child need to have at least one stay at home parent, or hire a well-trusted nanny who can accommodate the patient at all times. This is required so that the patient can be bathed, fed, entertained, etc. To have someone be completely dependent on oneself can be extremely frustrating and lead to depression and spiked stress levels. (medical-dictionary, 2008)
Treatments/Accomodations
Genetic disorders are very different from viruses or germ-related illnesses. They are typically permanent, and in most cases incurable as they affect several body systems and affect every single cell in the body. Especially with a syndrome such as the Cri du Chat syndrome, there is no known way to replace the deleted segment of chromosome 5. Therefore, there is unfortunately no cure for this syndrome to date.
However, though there are no cures for this disorder, there are options to manage some of the most severe symptoms. Most families resort to the guidance of therapists (speech therapists, physiotherapists, etc.) to help the patients with speech, temper, behaviour controlling difficulties as well as bodily coordination. Many individuals find it useful for Cri du Chat patients to become fluent in sign language as it is extremely difficult to express thoughts or feelings verbally. Psychiatrists and support groups are another useful tool for patients with this specific disorder. Patients appreciate someone who is there to patiently listen as they express themselves, and therefore look to psychiatrists and support groups for this satisfaction. Not only do the patients suffer through this genetic disorder, but so does the entire family. The hardships parents, siblings, and even friends go through is understood, and is why there are accommodations for the patients loved ones. Friends and family can look to psychiatrists/counsellors and support groups to express what they're going through, to minimize stress and the feeling of loneliness. |