Cri du Chat Awareness Week 2018 (Day 4)

By now, I hope you have clicked on the 5P-Society link at the bottom of my posts, if you haven’t had a chance to, here is the link 5p- Society.

Meanwhile, just in case you still haven’t clicked, here is one of the FAQs

Diagnosis

How is Cri du Chat Syndrome diagnosed?

Cri du Chat syndrome is diagnosed by a blood test that is put through a full genetic testing.

There are various tests that can be used to determine if your child has Cri du Chat Syndrome.  The first is a simple Chromosome Analysis also known as a Karyotype.

The Karyotype will map our your chromosomes and will let you know if something is missing (or added).  An example of a karyotype for Cri du Chat Syndrome would be:  46,xx,del5p14.2.  To translate this it would be as follows:  the number “46” means that you have 46 chromosomes (23 pair); “xx” in this case means it is a girl with two “x” chromosomes (a boy would be “xy”); del5p indicates that there is a deletion on the 5th chromosome, “p” arm.  A chromosome consists of a “p” or short arm and a “q” or long arm and then the centromere which is in the area where the “p” and “q” connect.  Next the 14.2 is the location on the “p” arm that the deletion has occurred.

Another test that is being used is called FISH testing.

FISH stands for fluorescence in situ hybridisation. This test looks for gene changes in cells. Genes make up your DNA and control everything the cell does, including when it grows and reproduces. FISH tests look for specific genes or parts of genes.  The FISH test can also be used when providing a diagnosis for Cri du Chat Syndrome and may provide a very similar karyotype as above.

A third test, and also the newest testing that families are seeing done with their children, is called Chromosome Microarray Analysis.

A Microarray analysis is a DNA-based method of genetic analysis, used to identify significant chromosome abnormalities.  The way it works is a DNA sample is prepared and hybridized to a glass slide.  Then a large number of molecular probes are arrayed.  The probes have small segments of DNA from the patient and are compared to a control DNA.  This type of analysis is able to diagnose deletions and duplications of whole chromosomes, portions of chromosomes, and specific locations.  A chromosome analysis from a Microarray will have more information on it and will provide you with the exact location of the deletion or duplication.

But regardless of the testing, Emily is not a syndrome.

She is a young lady with dreams and aspirations!

We have a facebook page: If you want short updates and timely pictures of the little things that are happening in our life, please like and follow Lessons from my daughter‘s page.

You can also find me on Twitter at @plebrass

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Cri du Chat awareness week 2018 (Day 3)

Cri du Chat Syndrome can’t be cured but with love, therapies and family support, our kids have a chance to reach their full potential!

From the 5p- Society website

Treatments

Occupational therapy

Occupational therapy benefits our kiddos by providing fine motor, visual perceptual, self-care and sensory integration intervention to assist the child/young adult to maximize their skills, develop new skills and be able to relate more effectively to the environment around them.  Occupational therapists who work with children have education and training in child development, neurology, medical conditions, psychosocial development, and therapeutic techniques.

Physical Therapy

Children with Cri du Chat syndrome may experience physical difficulties during their growth and development. Physical therapy can help your child’s physical development in the following ways: helping them to sit, stand, improve fine motor skills, etc. The goal of physical therapy for children is not to speed up the rate of their development, but to facilitate the development of optimal physical movement.

Speech Therapy

Speech therapists work with children from an early age to aid in swallowing by providing advice on what best methods exist for feeding. As children with Cri du Chat syndrome grow older, they may experience problems with their speech. Speech therapists provide guidance on assisting children with communication issues by utilizing and teaching different methods of communication such as: sign language, picture exchange system, technology assisted communication, etc.

Alternative Therapies

Many families have found the use of alternative therapies as a way to complement Occupational, Physical and Speech therapy.  Here is a list of therapies that other children and/or adults with the syndrome have benefited from:

▪ ABA Therapy (Applied Behavior Analysis)

▪ Adaptive Physical Education

▪ Aromatherapy

▪ Aquatic Therapy

▪ Behavior Therapy

▪ Cranial Sacral Therapy

▪ Dolphin Therapy

▪ Hippo-therapy (also known as Horse Therapy)

▪ Music Therapy

▪ Play Therapy

▪ Pragmatic Group Therapy

▪ Sensory Learning Therapy

We have tried many therapies and activities over the years.

One of Emily’s favorite is Hippotherapy although I am fairly certain that if Dolphin Therapy was available around here, she would make us buy her a membership for life 

We have a facebook page: If you want short updates and timely pictures of the little things that are happening in our life, please like and follow Lessons from my daughter‘s page.

You can also find me on Twitter at @plebrass