Cri du chat syndrome, also known as cat meow syndrome; It is a rare genetic disease in which a variable part of the short arm of chromosome 5 is missing or deleted (monosome). Symptoms vary from case to case depending on the exact size and location of the deleted genetic material. Common symptoms include a distinctive scream resembling a cat’s voice, characteristic facial features, slow growth and microcephaly. This condition shows that the head circumference is smaller than expected for a child’s age and sex. Affected children also show delays in acquiring skills that require the coordination of muscle and mental activities and require moderate to severe mental disability. Additional symptoms may also occur that affect the different organ systems of the body. This disorder was first described in the medical literature in 1963 by Doctor Lejeune, who named the disease after a distinctive cat-like cry. In French, Cri du chat is translated as crying cat.
Cri du Chat symptoms
The symptoms of Cri du chat syndrome vary from case to case. Characteristic of Cri du chat syndrome is high-pitched, sharp crying during the first few weeks of life. Crying that resembles a cat’s sill becomes less pronounced as the affected babies grow. Affected infants may also show low birth weight, growth deficiencies, decreased muscle tone and microcephaly; this shows that the head circumference is smaller than expected for a child’s age and sex. [cri du 1]
Significant facial features may include an abnormally rounded or plump face, a large nose bridge, broadly spaced eyes, crossed eyes (strabismus), downward curved eyelid folds, vertical skin folds that can hold the eyelids. There are internal corners, low adjusted ears and an abnormally small jaw, misalignment of the upper and lower teeth may also occu
Additional facial features include an abnormally small distance from the upper lip to the nose, incomplete closure of the mouth (cleft palate), an abnormal groove or cavity in the upper lip (cleft lip), and abnormal fullness. In addition to the lower lip, a meaty mass hanging over the back of the throat may be poured. Affected infants may lose their fullness as they age and become abnormally long and narrow.
Most affected babies also exhibit some degree of psychomotor and mental disability. Psychomotor disability is a delay in acquiring skills that require mental and muscular activities such as head control, sitting and walking. About half of children with Cri du chat syndrome can dress themselves up to 5 years of age. In most cases there is moderate to severe mental disability. Speech development is delayed, especially in children with cri du chat syndrome. Affected children often understand speech better than they can communicate. Some children may exhibit hyperactivity or self-malicious behavior. Children with Cri du chat syndrome are born hypotonic (low muscle tone) and tend to become hypertonic (high muscle tone) as they age.
Affected infants may have difficulty feeding due to low muscle tone, sucking problems, and gastroesophageal reflux disease. Some are also at risk of aspiration, which can lead to pneumonia. In one study, it was found that only 50% of children with cri du chat syndrome were able to feed themselves with a spoon up to 3.5 years of age. There may be several additional findings associated with Cri du chat syndrome. Abnormal side-by-side curvature of the spine (scoliosis) is a common complication. Affected children also carry a risk of ear infection and hearing loss. Approximately 15-20 percent of affected infants have congenital heart defects. The most common heart defect is the ductus arteriosus, a condition that causes the lungs and body’s main artery (aorta) to fail to close after birth.
Less common findings of Cri du chat syndrome are the development of a rupture in the lower abdominal (inguinal hernia) support tissue that allows a portion of the intestines to protrude, the passage or backflow of the contents of the stomach or small intestine into the esophagus, abnormalities of the kidney and urinary tract, respiratory distress. . Abnormal bending or bending of a finger towards the fourth finger may occur in the fingers and toes. In addition, structural anomalies of the clubfoot and sound box (larynx) can be seen. In some cases, close-sightedness and cataract may develop. Early whitening of hair has also been reported. Some people may develop recurrent respiratory and intestinal infections. In affected male infants, the testes cannot descend to the scrotum and the urine opening can be placed under the penis. Also,
Cri du Chat Reasons
Chromosomes are also divided into several numbered groups. For example, chromosome 5p15.3 relates to band 15 on the short arm of chromosome 5. The numbered bands indicate the position of thousands of genes on each chromosome. In individuals with Cri du chat syndrome, the extent and severity of the associated symptoms and findings may vary depending on the exact length or location of the deleted portion of chromosome 5p. Researchers have determined that certain symptoms may be associated with specific sites in the short arm of chromosome 5. Researchers have identified several genes that are believed to play a role in the development of cri du chat syndrome. The telomerase reverse transcriptase 13.33 (5p13.33) gene is located on the short arm of chromosome 5 and the semaphore F gene at 5p15.2 may contribute to various properties. Deletion of the D-catenin gene at 5p15.2, Since this protein is expressed in early neuronal development, it is associated with more severe mental disability. If researchers can connect certain sets of signs and symptoms to deletion of chromosome 5p, it can greatly assist in diagnosis and prognosis.
Most cases of cri du chat syndrome occur spontaneously in embryonic development for very early unknown reasons. Most deletions (80-90%) are of origin, ie they occur as part of sperm formation. Parents of a child with a de novo deletion usually have normal chromosomes, and the risk of having another child with chromosomal abnormalities is relatively low.
In about 10-15 percent of cases, cri du chat syndrome can result from a balanced translocation that includes the 5p chromosome and another chromosome or chromosome. Translocations occur when certain chromosome regions are broken and rearranged, causing genetic material and a modified set of chromosomes to shift. Such translocations may occur spontaneously for unknown reasons or may be transmitted by a parent who is the carrier of such a balanced translocation. A balanced displacement consists of a modified but balanced group of chromosomes and is generally harmless to the carrier. Such a chromosomal rearrangement, however, may be associated with an increased risk of abnormal chromosomal development in the offspring of the carrier. Chromosomal analysis,
Cri du chat syndrome affects women more often than men. Its incidence ranges from 1-15,000 to 50,000 live births. Some cases of cri du chat syndrome may not be diagnosed by making it difficult to determine the actual frequency of this disease in the general population.
Symptoms of the following disorders may be similar to cri du chat syndrome. Comparisons may be useful for differential diagnosis. Wolf-Hirschhorn syndrome, also known as Wolf syndrome, is a rare chromosomal disease in which the short arm (p) of chromosome 4 (4p) is partially eradicated. Although the size and location of deletion 4p varies from state to state, deletion of band 4p16.3 is believed to be the critical region leading to the characteristic features of the disorder. Associated abnormalities typically include low birth weight, growth retardation, poor muscle tone, and delays in acquiring skills that require coordination of physical and mental activities. Most affected infants and children have significant malformations of the skull and face. These include a small head and high forehead, high arched eyebrows, broadly spaced eyes, vertical skin folds covering the inner corners of the eyes, a beaked nose with an abnormally large nose bridge, an enclosed mouth, an unusually short vertical groove in the middle of the upper lip, or large, malformed ears. Because of these or additional craniofacial malformations, the face may look relatively different from one side to the other. Additional physical abnormalities may also be present.
These features may include abnormal deviation of one eye (strabismus) from one eye to the other, partial tissue loss from the colored region of the eye, incomplete closure of the mouth (cleft palate), undescended testes, and abnormal insertion of the urine opening under the penis in the affected male, structural disorders of the heart, uncontrolled electrical activity in the brain. sudden episodes (seizures), skeletal anomalies, or other findings. Wolf-Hirschhorn syndrome usually occurs spontaneously in embryonic development for very early unknown reasons. Less commonly, a balanced displacement may occur in one of the parents.
Additional chromosomal disorders may have features similar to those associated with cri du chat syndrome. Chromosomal testing is required to confirm the current specific chromosomal anomaly. For more information on such disorders, chromosomes should be used by selecting the name of the specific chromosomal disorder in question or as the search term in the rare disease database.
Cri du Chat Diagnosis
In neonates, the diagnosis of cri du chat syndrome is confirmed by extensive clinical evaluation, identification of characteristic findings (eg cat-like crying), and chromosomal studies that lead to deletion of the short arm of chromosome 5. The test, known as fluorescent in situ hybridization (FISH), can be used to confirm the diagnosis of cri du chat syndrome.
Chromosomal studies can also be performed to determine whether a parent has a balanced translocation. Additional diagnostic tests may be used to determine the degree of disorders such as x-rays to reveal skeletal abnormalities such as scoliosis. Scientific techniques are increasingly refined to detect chromosomal abnormalities. This means that diagnostic techniques have improved and in some cases prenatal diagnosis of cri du chat syndrome is possible.
Cri du Chat Treatment
Cri du chat sendromunun tedavisi, her bir bireyde belirgin olan spesifik semptomlara yöneliktir. Tedavi, uzman bir ekibin koordine çabalarını gerektirebilir. Çocuk doktorları, ortopedistler, cerrahlar, kardiyologlar, konuşma patologları, nörolog, diş hekimi, fiziksel ve mesleki terapistler,diğer sağlık uzmanlarının etkilenen bir çocuğun tedavisini sistematik ve kapsamlı bir şekilde planlaması gerekebilir. Cri du chat yapan bazı çocukların duyusal-sinirsel sağırlığı olabileceğinden, işitsel testler yapılmalıdır.
Erken dönem bu sendrom olan çocukların, en yüksek potansiyele ulaşmalarını sağlamada önemlidir. Yararlı olabilecek hizmetler arasında özel iyileştirici eğitim, fizik tedavi, konuşma terapisi, özel servisler ve diğer tıbbi, sosyal veya mesleki hizmetler yer alabilir. Çocukların çoğu, bir yaşından önce tedaviye kayıtlıdır.
Konjenital kalp defektleri, şaşılık, skolyoz, kuluçka ayakları, yarık damak ve dudak da dahil olmak üzere cri du chat sendromu ile ilişkili çeşitli semptomların tedavisi için cerrahi uygulanabilir. Cri du chat olan çocuklar için hayatta kalmak genellikle iyidir. Sendrom ile ilgili ölümlerin çoğu yaşamın ilk yılında meydana gelmekte ve birkaç çocuk 50 yaşın üzerinde yaşamıştır. Etkilenen bireyler ve aileleri için genetik danışmanlık tavsiye edilir. Diğer tedavi semptomatik ve destekleyicidir.
Cri du Chat Research Therapies
Cri du chat syndrome research and studies are ongoing. One study has shown that early childhood private schooling, home (rather than institutional) and family support can help the patient acquire the abilities of a normal five or six year old. In the same study, it was observed that half of the children over the age of ten who had special education and living in a supportive home environment were able to communicate adequately.