Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India
Cri-du-chat Syndrome: Symptoms, Causes, And Treatment
Cri-du-chat (cat's cry) syndrome is a rare disorder that causes issues with an infant's growth and development. Some characteristics of the condition include a distinct cry that sounds like a meowing kitten, a small head size, and facial abnormalities.
It first appeared in literature in 1963 when Dr. Jerome Lejeune named the disorder after its most distinctive feature. "Cri du chat" is a French phrase that translates to "cry of the cat."
Cri-du-chat syndrome is considered rare, appearing in 1 in every 15,000–50,000 live births. However, it is one of the most common chromosomal disorders.
This article discusses cri-du-chat syndrome, its symptoms, causes, and more.
Cri-du-chat syndrome is a chromosomal deletion syndrome. It occurs when some portion of the short arm of chromosome 5 (5p) is missing. Hence, people also call it 5p- (5p minus) syndrome.
Other terms for the condition include:
The symptoms of cri-du-chat syndrome vary among individuals. This variability may relate to the size of the missing genetic material.
Healthcare professionals often diagnose the condition at birth. Symptoms such as the namesake cry may appear during an infant's first few weeks, but other signs may be present at birth.
The most distinct characteristic of cri-du-chat syndrome is a high pitched cry resulting from anatomical changes in the larynx. This symptom is typically present soon after birth and disappears within the first few months. Not all infants with the condition present with this cry.
Affected infants may also have low birth weight and low muscle tone (hypotonia).
Distinct facial features associated with the condition include:
Developmental signs
An individual with cri-du-chat may also show delays in mental and physical development, but about half of children with cri-du-chat are able to dress independently by age 5 years.
Some will be able to walk as early as 2 years, but others may only learn to walk by age 6 years due to hypotonia. In some cases, children with cri-du-chat syndrome are never able to walk.
Low muscle tone and gastroesophageal reflux disease may lead to feeding difficulties. An older study suggested that half of infants with the condition may be able to feed themselves with a spoon by 3.5 years of age.
While born hypotonic, children may become hypertonic (high muscle tone) as they grow older. Their moon face also changes and becomes more long and narrow.
Cognitive signs
Children also show delayed speech development, but around half will acquire enough verbal or nonverbal skills to communicate. They are usually better at understanding speech than communicating.
Behavior signs
Children and adults with cri-du-chat are usually gentle, happy, and friendly and enjoy social interaction. However, they may also present with some behavioral issues, including:
Cri-du-chat syndrome results from a partial or complete deletion of the end of the short (p) arm of chromosome 5. Most deletions occur spontaneously early in embryonic development, during the formation of reproductive cells.
According to the National Organization for Rare Disease, about 80–90% of deletions occur from sperm formation. About 10–15% result from balanced translocation involving chromosome 5 and another chromosome. This involves chromosomes breaking off and rearranging themselves, resulting in abnormal genetic material.
The remaining 3–5% are due to a deletion in the interior part of the chromosome (interstitial deletion).
It is unclear what causes the deletion responsible for cri-du-chat syndrome. Couples with typical chromosomes have a 1% risk of having a second child with the condition. In instances where one parent has a chromosome 5 abnormality, subsequent children may have cri-du-chat syndrome.
Around 10–15% of individuals with the condition inherit a chromosome abnormality called a balanced translocation.
A carrier parent with a balanced translocation may have an increased risk of having a child with abnormal chromosomal development. While it does not affect the carrier, it may become unbalanced once passed to their child.
Healthcare professionals generally diagnose cri-du-chat in the hospital upon the infant's birth through clinical evaluation and detecting symptoms associated with the condition.
If a doctor suspects the newborn to have the cri-du-chat, they may perform a karyotype analysis to confirm the deletion of chromosome 5.
Further tests can help confirm the diagnosis if the karyotype analysis results turn out normal but the suspicion is high. These tests include:
A doctor may also use an MRI scan of an individual's brain to look for characteristics consistent with cri-du-chat.
An amniocentesis test done prenatally can also diagnose the condition. Structural abnormalities can also be observable through an ultrasound scan, including cerebellar hypoplasia and cardiac abnormalities.
Research is still ongoing into cri-du-chat syndrome. One study showed that early schooling in the home environment might help a child with cri-du-chat syndrome achieve the skills of their neurotypical peers aged 5–6 years old.
Meanwhile, children over age 10 years who also attended special schooling and lived in supportive home environments learned adequate communication.
A 2016 study found that giving people with cri-du-chat a special educational program designed for them led to improved social skills.
A 2018 study on the effects of oral stimulation intervention on newborn babies with the condition showed that the intervention led to increased milk intake. It also promoted their development and helped the baby transition from a feeding tube to bottle-feeding.
However, this study only looked at one newborn, making it difficult to draw conclusions from the results. For affected newborns with feeding difficulties, tailored interventions by an occupational therapist may help.
In 2019, researchers did a 7-year follow-up study on individuals with Cornelia de Lange and cri-du-chat syndromes. They found that people with the two conditions demonstrated improved receptive language skills and stable adaptive behaviors over time. Given the small study size and the variability, the authors note that the results cannot predict individual patient outcomes.
Many children with cri-du-chat syndrome can lead full lives. They may live into adulthood but with significant disabilities. The survival rate is generally good, and some may even live beyond 50 years old.
The risks of death and disability decrease after a child's first birthday. About 90% of deaths occur during the first year, and 75% occur during their first month of life.
Early diagnosis and treatment can significantly affect a person's outlook with cri-du-chat. Early therapeutic measures can improve their physical and mental development and social adaptation.
Cri-du-chat syndrome is a rare genetic disorder caused by a missing piece of genetic material. This causes significant issues in a child's growth and development.
Individuals with this syndrome may have problems with their cognitive, behavioral, mental, and physical development.
Early intervention is crucial in helping an individual reach their maximum potential. Parents and caregivers should collaborate with their healthcare team on a comprehensive treatment plan to help the child with cri-du-chat live a full life.
Chromosome Deletion Syndrome: Baby Diagnosed After Mother Noticed He ...
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Your support makes all the difference. Read moreA mother who was puzzled that her newborn looked nothing like her asked doctors to investigate, and was stunned when he was diagnosed with a rare chromosome syndrome.
As Hannah Doyle, 36, cradled baby son Zander, she noticed he did not resemble either parent and had particularly unusual swollen eyes.
Her 'mother's instinct' told her something was wrong and she asked doctors to carry out some tests.
Zander was diagnosed with Chromosome Deletion Syndrome, a rare condition that means he has a loss of chromosomes.
It is currently unknown how it affect him in the future, and Hannah hasn't been able to find anyone else who has the same loss of chromosomes that her son has.
Speaking about the moments after his birth, she said: "When I held him to do skin-to-skin contact, he was just different to my other babies and I instantly knew there was something different.
"When I looked at his eyes, they were very swollen and did look a bit almond like.
"I do believe to this day that it was him telling me, because his eyes look totally different now.
"Now he does look very much like his dad but when he was first born he did look very different."
Hannah first became concerned about her unborn child at 26 weeks pregnant when she found out he had two holes in his heart.
But when Zander was born at Leeds Teaching Hospital in October this year she immediately realised something was wrong.
As she wasn't able to have lots of information about the condition, Hannah said she was 'very shocked' when she found out Zander's diagnosis.
open image in gallery
(Hannah Doyle / SWNS)Hannah, who is separated from Zander's father, said: "I was very shocked because I think I had always known that it was a possibility.
"My gut instinct was different from when he was born and I'm so grateful for that gut instinct and I believe he was telling me and I was aware of it.
"It was a shock and it felt really daunting and really scary because your mind goes into overload and you just start thinking the worst.
"It was harder because there wasn't really much explanation to it.
"The cardiologist was the one that told me the initial diagnosis but he couldn't comment on it or anything."
Hannah has said that despite his condition, Zander - now aged 10 weeks - is a 'happy little baby'.
open image in gallery
(Hannah Doyle / SWNS)But it is now a 'waiting game' to find out how he will be affected in the future.
The civil servant, from Halifax, said: "He's doing really well and he's a happy little baby.
"He's on the prescription formula which is helping him grow.
"Now I think it's more of a massive waiting game really, just waiting and seeing really.
"That's the hardest thing because with any other medical condition, there's more answers.
"Particularly when I can't find anyone else with the same particular deletion that he's got missing so there's not even anyone else to compare him to.
"It could have no impact on him whatsoever or it could, but the not knowing is hard because you read things and wonder if it will impact him."
The single mum-of-four is trying to spread awareness of Zander's condition, and has started posting videos on TikTok about Chromosome Deletion Syndrome.
Hannah, of Halifax, West Yorks,. Said: "Sometimes I must admit that as a parent, I think it would have been better to have not known this.
"But I know it's better to know so I can understand him if there is any difficulties so I want to spread awareness so lots of other children are just better understood.
"I think children are so easily labeled and judged for certain behaviours when actually they could be so many more reasons behind that."
Baby With Chromosome Deletion Syndrome Looks Nothing Like MumNews ...
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