Parents , have you ever heard about cri du chat syndrome? This syndrome can also be called cat cry syndrome. The name is based on the symptoms that appear in babies who have this syndrome, namely crying with a high-pitched voice like a cat.
But don’t worry Parents , because this syndrome is a rare syndrome. However, it is still important to recognize the symptoms early so that the right treatment can be given to the child.
Definition of Cri Du Chat Syndrome
Cri du chat syndrome also known as 5p- (5p minus) syndrome is a rare genetic disorder caused by the loss of a piece of chromosome 5. Babies with this condition often make a high-pitched cry that sounds like a cat’s cry. This disorder is characterized by intellectual disability and delayed development. Here are some other names for cri du chat syndrome:
- 5p deletion syndrome
- 5p syndrome-
- Cat cry syndrome
- 5p-chromosome syndrome
- Monosomy 5p
Symptoms that Appear
The appearance of symptoms for sufferers of this rare syndrome varies from one case to another. In addition to the high-pitched cry like a cat, here are some symptoms that appear in sufferers:
Small Baby
Babies affected by this syndrome may show low birth weight, growth deficiency and decreased muscle tone (hypotonia). They may also experience microcephaly or a condition that indicates that the head circumference is smaller than it should be based on the baby’s age and sex.
Distinctive Facial Features
A person with cri du chat syndrome is also easy to detect because it is seen from typical facial features, including wide-set eyes (hypertelorism), crossed eyes (strabismus), low-set ears, small jaw (micrognathia), abnormally round face, wide nasal bridge, downward slanting eyelid creases (palpebral fissures), and vertical skin folds that may cover the inner corners of the eyes (epicanthal folds). Misalignment of the upper and lower teeth (malocclusion) may also occur.
Other additional facial features include an abnormally small distance from the upper lip to the nose (short philtrum), incomplete closure of the roof of the mouth (cleft palate), an abnormal groove or cleft in the upper lip (cleft lip), and an abnormally shaped lower lip. In addition, the fleshy mass (uvula) that hangs down the back of the throat may protrude (bifid uvula). As babies with this syndrome grow older, their faces may lose fullness and become abnormally long and narrow.
Psychomotor and Intellectual Disabilities
In addition to the physical features that are different from babies in general, babies with this syndrome will also show some degree of psychomotor and intellectual disabilities. In terms of psychomotor disabilities, for example, there is a delay in skills that require mental and muscle activity such as head control, sitting, and walking. About half of children with cri du chat syndrome are able to dress themselves by age 5.
In some cases, babies also have the potential to have moderate to severe intellectual disabilities. Some of them experience delays in speech development. Children with this syndrome usually understand speech well but have difficulty giving feedback.
Difficult to Eat
One of the symptoms that appear in children with this syndrome is low muscle tone (hypotonic). This condition can cause difficulty eating, because it is difficult to suck and has gastroesophageal reflux disease. Some are also at risk of aspiration which can cause pneumonia. In a study, only 50% of children with this syndrome were able to feed themselves with a spoon at the age of 3.5 years.
Other Symptoms
Various additional findings may occur in association with cri du chat syndrome. Abnormal curvature of the spine ( scoliosis ) is a complication that is also common in individuals with this syndrome. Affected children are also at higher risk for ear infections and hearing loss.
About 15-20 percent of affected babies have a congenital heart defect. The most common heart defect is patent ductus arteriosus, a condition in which the channel (ductus) between the blood vessel leading to the lungs (pulmonary artery) and the body’s main artery (aorta) fails to close after birth.
Less common findings associated with this syndrome include the development of a tear in the supporting tissues of the lower abdomen (inguinal hernia) that allows a portion of the intestine to protrude; passage or backflow (reflux) of stomach or small intestine (duodenum) contents into the esophagus (gastroesophageal reflux); abnormalities of the kidneys and urinary tract; difficulty breathing; webbing of the fingers and toes (syndactyly); abnormal bending or curvature of the little finger inward toward the fourth finger (clinodactyly); clubfoot; and structural anomalies of the voice box (larynx).
In some cases, nearsightedness (myopia) and cataracts may also develop. Premature graying of hair has been seen. Some individuals may experience recurrent respiratory and intestinal infections. In affected male infants, the testes may fail to descend into the scrotum (cryptorchidism) and the urinary opening may be located on the underside of the penis ( hypospadias ). In addition, there is an association with cri du chat and Hirschsprung’s disease.
Causes of Cri Du Chat Syndrome
Cri-du-chat syndrome is caused by a deletion of the short arm (p) of chromosome 5. This chromosomal alteration is then written as 5p-. The size of the deletion varies among affected individuals; studies have shown that larger deletions tend to result in more severe intellectual disability and developmental delays than smaller deletions.
The signs and symptoms may be related to the loss of several genes on the short arm of chromosome 5. Researchers believe that the loss of a particular gene, CTNND2, is associated with severe intellectual disability in some people with the condition. They are working to determine how the loss of other genes in this region contributes to the distinctive features of this genetic syndrome.
No one knows exactly what causes the deletion of the gene on chromosome 5. In most cases, the disorder occurs spontaneously, with no family history. The risk of a chromosome-normal couple having a child with cri du chat is about one percent. In some cases, babies with this rare syndrome are born with one parent who has the chromosome 5 abnormality.
Therefore, genetic counseling for couples is important, as the unborn child has the potential to suffer from cri du chat syndrome. Medical techniques such as amniocentesis, in which a sample of amniotic fluid is examined, can determine whether or not the unborn baby suffers from this rare syndrome. Amniocentesis is usually performed in the first trimester of pregnancy.
Diagnosis of Cri Du Chat Syndrome
In newborns, diagnosis of the syndrome is made by performing a thorough clinical evaluation, identifying characteristic findings (eg, a cat-like cry) and performing a chromosome study (karyotype) that reveals a deletion on the short arm of chromosome 5. A test known as fluorescence in situ hybridization (FISH) may also be performed to confirm the diagnosis of cri du chat syndrome.
Chromosomal studies may also be performed to determine if a balanced translocation is present in one parent. Additional diagnostic tests may be used to determine the extent of the abnormality such as X-rays to reveal bone abnormalities such as scoliosis.
Scientific techniques for determining chromosomal abnormalities are constantly being developed. This means that diagnostic techniques have improved and in some cases prenatal diagnosis of this rare syndrome is possible.
Cri Du Chat Syndrome Treatment
Unfortunately, there is no cure for this rare genetic syndrome. However, there are several types of treatments that can be done. The goal is to stimulate the child’s growth and help him reach his full potential. Here are some of these treatments:
- Physiotherapy to improve poor muscle tone
- Speech therapy
- Communication alternatives, such as sign language, because speech is usually delayed, often severely
- Occupational therapy to teach new skills
Support for Parents with Children with Cri Dru Chat Syndrome
Some support services for parents with children with cri du chat syndrome can be obtained in the following ways:
- Attend counseling on related syndromes to get information about this syndrome.
- Assistance from medical personnel
- Attending a support group with parents who are experiencing similar conditions to share experiences and encourage each other.
Those are the important things that Parents need to know about cri du chat syndrome. Hopefully it is useful.
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Republished with permission from theAsianParent Indonesia
