30-Second Summary
- Another name for Cri Du Chat Syndrome is 5P-, due to the deletion on the short arm (p arm) of chromosome 5.
- The most common symptom of the disorder is a high-pitched cry that resembles a cat’s meow. As the baby grows, the cry becomes less noticeable.
- There is no treatment that can completely cure Cri Du Chat Syndrome. However, with consistent therapy, the child may reach their full potential and live a meaningful life.
- A significant number of infants experience protein deficiency due to poor feeding. Because this can also lead to developmental delays, feeding tube placement may be necessary in some cases.
What is Cri Du Chat Syndrome (Cat's Cry Syndrome)?
Also known as cat’s cry syndrome, Cri Du Chat Syndrome occurs due to the absence of a portion of a chromosome. It is a rare condition named after the distinctive cry of affected babies, which resembles the high-pitched sound of a cat’s meow.
Another name for Cri Du Chat Syndrome is 5P-, due to a deletion on the p arm of the 5th chromosome. While it is considered one of the spectrum disorders, the size and location of the chromosomal deletion may vary. Therefore, the severity of symptoms also differs among patients. A larger deletion results in more pronounced symptoms.
Causes of Cri Du Chat Syndrome (Cat's Cry Syndrome)
Cri Du Chat Syndrome is caused by a genetic disorder involving a deletion on the short arm (p arm) of chromosome 5. This deletion occurs randomly during the formation of reproductive cells in fetal development. Therefore, the parents of affected children usually do not carry any genetic abnormalities.
Since most cases are not inherited, the condition cannot be classified as dominant or recessive. Only about 10% of cases are inherited from a parent who carries an unaffected chromosomal abnormality.
Symptoms of Cri Du Chat Syndrome (Cat's Cry Syndrome)
Symptoms of Cri Du Chat Syndrome can vary widely. The most common symptom of the disorder is a high-pitched cry that resembles a cat’s meow. As the baby grows, the cry becomes less noticeable.
In addition, babies may exhibit distinctive facial features. These include:
- Smaller than average head size
- Strabismus (crossed eyes)
- Abnormally round face
- Wide-set eyes
- Broad nose
- Downward-slanting eyelid folds
- Extra skin fold at the inner corner of the eyes
- Low-set ears
- Unusually short distance between the upper lip and the nose
- Abnormally small jaw
As the baby grows, facial fullness may diminish, resulting in a characteristically long and narrow face.
Rare symptoms may include the following:
Other symptoms of the syndrome may include:
- Low birth weight
- Delayed growth
- Feeding difficulties
- Poor muscle tone
- Spinal curvature
- Developmental delays such as head control and walking
- Speech and language delays
- Moderate to severe intellectual disability
Other abnormalities that may be observed include the following:
- Sensitivity to sound
- Heart diseases, including congenital heart defects
- Skin hemangioma
- Kidney pathology
Orofacial abnormalities may include:
- High-arched palate
- Mandibular microretrognathia
- Enamel hypoplasia
- Chronic periodontitis
Developmental and behavioral signs may include:
- Hyperactivity
- Self-injurious behavior
- Repetitive movements
- Gentle personality
- Obsessive attachment to objects
Diagnostic Criteria for Cri Du Chat Syndrome (Cat's Cry Syndrome)
The syndrome can be diagnosed at birth, as the cat-like cry and typical symptoms are easily noticeable. A full physical examination is then performed, and the symptoms observed in the infant are evaluated. To confirm the diagnosis, chromosomal testing is carried out.
Tests used to confirm the diagnosis include:
- Karyotype chromosome analysis, which maps the child's chromosomes to detect any missing or additional segments.
- The FISH test, which is used to detect specific genetic changes or chromosome sections in the child’s cells.
- Chromosomal microarray analysis, a type of genetic test that compares the child's DNA to a control group. It can identify deletions and duplications in entire chromosomes, chromosome segments, or specific locations.
Treatment Methods for Cri Du Chat Syndrome (Cat's Cry Syndrome)
There is no treatment that can completely cure Cri Du Chat Syndrome. However, with consistent therapy, a child can reach their full potential and lead a meaningful life.
Treatment for Cri Du Chat Syndrome varies depending on the child’s specific symptoms. A team of specialists is required for effective treatment. Possible treatment methods include the following:
Physical Therapy
If the infant has feeding difficulties, physical therapy should begin immediately to address sucking and swallowing problems. In addition, physical therapy can help the child stand, sit, and develop fine motor skills. This supports overall physical development.
Occupational Therapy
Speech therapy is used to address the child’s communication problems. During these therapies, various communication methods such as sign language and technology-assisted communication are taught. In addition, speech therapy can also help resolve feeding difficulties.
Surgery
In addition to supportive therapies, various surgeries may be recommended to treat certain conditions. The most common of these are surgeries performed to correct congenital heart defects, strabismus, and scoliosis.
Nutrition and Cri du Chat Syndrome (Cat’s Cry Syndrome)
Feeding can be extremely challenging in babies born with Cri Du Chat Syndrome due to difficulties with sucking and swallowing. A significant number of infants experience protein deficiency due to poor feeding. Since inadequate nutrition can also lead to developmental delays, feeding tubes may be necessary for some babies.
In later stages of life, physical therapy can help develop the muscles used for sucking, chewing, and swallowing. This allows for more regular feeding in older children.
Ensuring adequate nutrition is a priority for babies with Cri Du Chat Syndrome. Therefore, tube feeding is often the first choice. Even when children with feeding tubes develop swallowing skills, different foods should be gradually introduced during therapy.
What Health Problems Might Children with Cri du Chat Syndrome (Cat's Cry Syndrome) Face?
Children born with Cri du Chat Syndrome are expected to be more susceptible to certain health conditions. These may include the following:
Vision and Hearing
A significant number of children with the syndrome do not experience vision problems. However, when present, these may include myopia, nystagmus, and optic nerve abnormalities.
Hearing problems are also rare in children with the syndrome. However, 70–80% of individuals are highly sensitive to noise. Additionally, frequent middle ear infections may negatively affect hearing.
Mobility
A significant number of individuals have the ability to move, and most can walk. However, nearly all experience difficulties with coordination, balance, and motor control. Studies have shown that half of the children are able to walk independently by the age of three.
Feeding
About 63% of babies with Cri du Chat Syndrome experience feeding difficulties during the neonatal period. Additionally, issues such as vomiting and reflux may also occur. Difficulties with sucking, chewing, and swallowing can delay the introduction of solid foods. As a result, 37% of children and adolescents with the syndrome are fed pureed foods, while 21% maintain a typical diet.
Salivation
A significant number of children produce excessive saliva. This condition occurs due to poor muscle control. It is managed with speech therapy, medications, and surgery to reposition the salivary glands toward the base of the tongue or the back of the mouth. This helps direct saliva down the throat and supports swallowing.
Reflux and Respiratory Infections
Reflux is a condition observed in both children and adults with Cri du Chat Syndrome, although its exact prevalence is unknown. In addition, a significant number of individuals are prone to recurrent upper respiratory tract infections and dental problems. In individuals with severe intellectual disability, reflux is believed to contribute to dental issues. In some cases, digestive and dental problems may cause pain and discomfort, which can lead to self-injurious or challenging behaviors.
Spinal Curvature
There is a possibility of developing scoliosis in affected individuals. This condition becomes more apparent as they age. Therefore, it is important to monitor them closely during growth spurts in adolescence and into adulthood.
Constipation
Constipation is observed in approximately 7 out of 10 patients. To address this issue, a diet high in fiber should be adopted.
Peripheral Sensory Seizure
There is some evidence that peripheral sensory neuropathy may occur in certain individuals. This condition is associated with two significant effects related to self-injurious behavior. The first is an abnormal experience of pain. The second involves unusual sensations in the hands or arms, often described as feeling like needle pricks.
Cri du Chat Syndrome (Cat's Cry Syndrome) and Behavioral Characteristics
Individuals with Cri du Chat Syndrome are more likely to exhibit behaviors that differ from those of others. This is referred to as a behavioral phenotype. However, being diagnosed does not mean that all behaviors will be present. It is important for caregivers, parents, and professionals to understand the underlying reasons for these behaviors in order to respond appropriately.
Behavioral differences that may be observed in individuals with Cri du Chat Syndrome include:
- Adaptive life skills
- Autism
- Communication
- Hyperactivity
- Impulsivity
- Repetitive behavior
- Sleep patterns
- Social skills
- Behavioral challenges
Challenging behaviors observed in individuals with Cri du Chat Syndrome are often described as self-injury, aggression, yelling, and screaming. However, other behaviors may also be present.
Age-Related Changes in Cri du Chat Syndrome
As individuals with Cri du Chat Syndrome age, certain changes may occur. However, due to limited research in this area, available data may not apply to everyone.
Physical Changes
The facial features that are prominent in newborns with Cri du Chat Syndrome become less noticeable with age, making diagnosis more difficult later in life. Some individuals also experience premature graying of hair.
Health Issues
Growth delays and coordination difficulties continue into adulthood. Adults with the syndrome tend to walk with their legs more apart and knees more bent.
Since dental problems persist into adulthood, regular dental check-ups are necessary.
In older age, muscle tone tends to increase and flexibility decreases—opposite of the relaxed muscle tone typically seen in youth.
Behavior and Mood
Challenging behaviors tend to decrease with age. However, no reduction has been noted in mood changes or responses to the environment. Individuals are consistently described as affectionate. It is also noted that attachment to objects may decrease over time.
Puberty
Puberty in individuals with Cri du Chat Syndrome typically begins at the expected time. Although the testes may be smaller in males, there are no known issues with sperm production. Those with intellectual disabilities may require additional support during puberty.
