What do you know about cat screaming syndrome?
Crying cat syndrome, also known as crying cat syndrome (Cri du chat) and 5p- syndrome, is a genetic disease. As a result of this disease, the baby cries very loudly, a cry that is similar to the sound of a cat, although you should note that your history of crying increases in your family, but if there is a history of crying in your family, it increases this disorder.. Information before pregnancy.
In this article from GCORP LLC we share with you information about cat syndrome, its symptoms, ways to diagnose and treat it... stay with us.
What is Screaming Cat Syndrome?
Screaming cat syndrome is a genetic disease that is caused by the shortening of the arm (p) of one of chromosome number 5.. This disease is a rare disease that occurs in only 1 out of every 20,000 babies and 1 out of every 50,000 babies.. But this disease is one of the most common syndromes caused by the syndrome
..Children with this crying syndrome They produce a loud sound that sounds like a cat.. larynx due to deletion Chromosome develops abnormally, which affects the sound of the child's cry..
Screaming cat syndrome is also a carrier of many disabilities and serious abnormalities associated with this disease.. (especially heart or kidney defects) or other life-threatening complications that can lead to death.. Most of the fatal complications of this disease occur before the child is one year old.
Children with crying cat syndrome by age 1 usually have a normal life expectancy, but depending on the severity of the syndrome, the child is likely to have lifelong physical or developmental complications... About half of children with the condition learn enough words to communicate, and most become happy, friendly, and social.
Learn more: Premature aging syndrome and its solution
Severity of screaming cat syndrome
As we said, the severity of this complication can be different.... Some children are only mildly affected and reach developmental milestones such as walking and talking at normal ages....However, they may still need speech therapy....Other children are profoundly mentally disabled, unable to walk or talk, and suffer from associated health problems and reduced life expectancy.
Most children with screeching cat syndrome fall somewhere between these two extremes.. They have moderate mental retardation, with varying degrees of speech delay and some health problems, but most master walking before the age of 6.
Causes of screeching cat syndrome
The exact cause of this syndrome, the deletion of chromosome 5, is unknown.. In most cases, the chromosome break occurs when the sperm or egg cells of the parents are still developing.. 10% of infections are from parents who have a deleted part.... It is assumed that about 90% are mutations..
It is possible that you carry a defect called a balanced translocation. But if you pass on the defective chromosome to your child, it may become unbalanced... If you have a family history, the probability of having a baby with this syndrome increases slightly.
Symptoms of Screaming Cat Syndrome
The severity of your child's symptoms depends on the amount of genetic information missing on chromosome 5.. Some symptoms are severe, while others are so mild that they may go undetected..
Physical Characteristics of People with Screaming Cat Syndrome
Babies born with crying cat syndrome are often small at birth... They may also have breathing problems.... In addition to the cat's cry, other physical characteristics include:
- Small chin
- Unusually round face
- Small nose bridge
- Skin wrinkles over the eyes
- Abnormal eye opening (ocular hypertelorism)
- Abnormal or disproportionate ears
- Harniali> Small from through a weak area or tear in the abdominal wall)
Other complications
Internal problems are common in children with this disease. For example:- Skeletal problems such as scoliosis (abnormal curvature of the spine)
- Defects of the heart or other organs
- Weak muscle strength (in infancy and childhood)
- Hearing and vision problems
As these children grow, they often have difficulty talking, walking, and feeding, and may have behavioral problems such as hyperactivity or aggression. They may also suffer from severe intellectual disabilities, but should have a normal life expectancy if they do not have major organ defects or other critical medical conditions.
Read more: Causes of Down syndrome
Ways to diagnose cat screaming syndrome
The condition is usually diagnosed at birth based on physical abnormalities and other symptoms, such as normal crying... The doctor may take X-rays of the baby's head to look for abnormalities of the skull base... Chromosome testing, which uses a special technique called FISH analysis, helps detect small deletions.
If you have a family history of screaming cat syndrome, your doctor may suggest chromosomal analysis or genetic testing while your baby is still in the womb. Your doctor can test a small sample of tissue outside the sac where your baby grows (known as a chorionic villus sampling) or examine a sample of amniotic fluid.
Treatment of screaming cat syndrome
There is no cure for cat screeching syndrome.... The goal of treatment is to stimulate the child and help him reach his full potential and can include the following:
- Physiotherapy to improve weak muscle strength
- Speech therapy
- Communicative alternatives, such as sign language, because speech is usually delayed
- Occupational therapy to teach coping strategies and new skills
Genetic counseling and screaming cat syndrome
If your child has been diagnosed with screaming cat syndrome, or if it runs in your family, it can be helpful to talk to a genetic counselor.. Genetic counselors are health professionals who are qualified in both counseling and genetics.. In addition to providing emotional support, they can help you understand the condition and its causes, diagnosis and health of your child.. Your family, culture and beliefs are sensitive, they are sensitive and trained.
Conclusion
If cat screeching syndrome runs in your family, a genetic counselor or psychologist can explain what genetic testing options are available to you and other family members... So if you notice these symptoms, consult a professional... You can call GCORP LLC doctors for online consultations and appointments and ask all your questions to experienced professionals.
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