The high-pitched, monotone, cat-like cry is the basis of diagnosis during infancy. Other signs include poor muscle tone, microcephaly, micrognathia, hypertelorism, epicanthic folds and mental retardation. Chromosomal testing of the embryo, referring to when the child is still in the womb of the mother is a means of testing the syndrome. A diagnostic expert can perform tests on two samples in this stage, (1) chronic villus sampling (CVS), wherein a tissue sample from outer part of the sac where the child grows is tested and (2) amniocentesis, wherein a sample of amniotic fluid is tested.
After birth, a physical examination of the infant can disclose some abnormalities such as inguinal hernia, diastasis recti, separated abdominal muscles, or abnormally folded ears. An X-ray of the skull reveals an abnormal angle at the bottom. Some of the laboratory tests and tests that are performed for the diagnosis of the syndrome include
Conventional cytogenetic studies: The amount of the deleted chromosome differs from only 5p15 to the whole of the short arm. These studies are unable to detect a small deletion, but they are very useful.
High-resolution cytogenetic studies: Since small deletions are unable to be detected by conventional cytogenetic studies, high-resolution cytogenetic studies were performed to detect them.
Fluorescence in situ hybridization (FISH)
Chromosome comparative genomic hybridization (CGH) (http://cri-du-chat-syndrome.blogspot.com/)
Microarray CGH: This method employs array elements that are prepared from large-insert genomic clones like BACs or phage artificial chromosomes (PACs).
Apart from the chromosomal studies, imaging studies can also be helpful.
Skeletal radiography
MRI: This method is employed to detect atrophic brainstem, middle cerebellar peduncles or cerebellar white matter, hypoplasia of cerebellar vermis along with extra-growth of cisterna magna and fourth ventricle.
Echocardiography: This technique is employed to check if there are any structural cardiac abnormalities.
The other tests include swallowing study, developmental testing and evaluation of receptive and expressive language.
Diagnosis and work-up for Cri du Chat Syndrome
Treatment for Cri du Chat Syndrome
There is no specific treatment currently available for this syndrome. However, gene therapy may help in the infant stages but this is not 100% effective. No techniques or methods have been developed until now to treat large chromosome abnormalities. Gene therapy addresses some of the effects due to the gene deletion. The development of a good technique may take several more years and will not be available in the immediate future.
Most of the associated medical problems can be treated with the available medical treatments successfully. Mental retardation must be treated without fail. It is recommended for the parents to attend a genetic counseling. The parents must undertake a karyotype test to check if one parent has a genetic rearrangement in chromosome 5.
Early intervention programs through several therapies or educational strategies have been planned to enhance the physical, intellectual, sensory and social development in the children. These must include physiotherapy, speech and language therapy, occupational therapy and behavioral management when necessary. All these treatments according to surveys have been shown to improve the future stance of the child greatly.
These treatments are essential since most of the children affected with the syndrome undergo severe speech developmental problems. When the child is taught an alternative means for communication like a sign language, (eg. Makaton) in addition to a pictorial symbol system, this will improve the language acquisition and speech development. Cri Du chat
In most of the affected children, they are keenly interested in learning the communication and in fact, many can even develop their own language in the form of signs and gestures in order to get their requirements. In such cases, these children prefer to use their own language over the formal language taught by schools or doctors.
But some children may undergo a lot of frustration owing to their communication problems and this may lead to behavioral problems at times. Hence speech and language therapy is of significant importance and helps such children to develop their intellectual skills and improve the quality of their living greatly. In case, this is not possible at young ages, a communication device may be of tremendous help for older children and adults without adequate speech knowledge. (http://cri-du-chat-syndrome.blogspot.com/)
Apart from such programs, medical care attention is necessary for chronic problems like upper respiratory tract infections, severe constipation and otitis media. Visual-motor coordination computerized training can help in enhancing the visuospatial performance.
Surgical care is essential in the cases of congenital heart disease, temperature maintenance, anatomical abnormalities in airways, mental retardation, hypotonia, undescended testes, clubfoot, and strabismus. There is nothing like a special diet for such children. They may eat and drink everything like a normal person. Full-time care by parents may be necessary in children who are severely affected all through their lives in spite of the treatments.
Genetic changes related to cri-du-chat
This syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.
The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.
How common is cri-du-chat syndrome?
Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.
Useful Definitions for cri du chat syndrome
Genetic Counsellor: This is a specialist whose role is to estimate the probability of recurrence of a genetic disorder, and to assist in deciding what the appropriate action would be. However, the final decision will always be left to the family
Genetic Nurse: This is a nurse with specialist knowledge in genetics and is typically based within a hospital Genetic department. One of their main roles is to talk and discuss with families about the syndrome.
Health Visitor: There are two types of health visitor: (1) The Health Visitor (HV) who is involved in all children who are born. They have the responsibility of checking the child’s progress from birth. This includes immunisation and pre-school checks as well as advising on feeding and problems associated with the new-born. (2) The Specialist health Advisor (SHA) who tends to look after the welfare of children with special needs only. Her remit is to monitor the child’s progress throughout childhood which includes attending meetings and reviews about the child. They will also look after the welfare of the parents, make sure that they are getting the right benefits, introduce them to a special playgroup, provide free nappies when they are eligible etc. The SHV tends to be more involved than the usual HV.
Occupational Therapist: This is a specialist therapist who works with people of any age to promote their independence. In hospitals they are an important part of the rehabilitation team. In the community, they work on trying to resolve practical problems. They can also provide essential equipment such as Buggies, special high chairs, potty chairs and helmets for children who fit or fall easily.
Paediatrician: This is a medically qualified doctor who specialises in babies and children. If your child has any ongoing problems they are usually kept an eye on by the paediatrician. At school age the child will have yearly checks with the Community Paediatrician.
Psychiatrist (child): This is a medically qualified doctor who specialise in diagnosis and treatment of various behavioural and psychological problems in children.
Psychologist (education): This is a specialist psychologist who assesses the educational needs and development of children with special needs.
Speech and Language Therapist: This specialist therapist has a varied role. They will assist in helping the child/adult to be able to communicate. This can take various forms i.e. speech, signing, symbols and electronic machines. They can also offer advice on feeding techniques.
http://www.criduchat.co.uk/usefuldefinitions.html
Name and Aliases of Cri-du-chat syndrome
Main name of condition: Cri-du-chat syndrome
Other names or spellings for Cri-du-chat syndrome:
cat's cry syndrome, 5p- syndrome, deletion 5p syndrome, Le Jeune's syndrome, cat's-cry syndrome, 5p deletion syndrome, cat cry syndrome, chromosome 5p monosomy, crying cat syndrome, del (5p) syndrome, monosomy 5p, 5p minus syndrome, Chromosome 5p deletion syndrome, Chromosome 5p-syndrome
Lejeune syndrome, Cri du chat syndrome 5p−, 5p partial monosomy syndrome Source - Diseases Database
5p minus syndrome, Cat cry syndrome, Chromosome 5p deletion syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
developmental issues in Cri Du Chat
- Intellectual disability ranging from mild to profound with the majority being moderate to severe
- Speech and language impairment varying from mild to profound. And cri du chat syndrome have better receptive than expressive language which means they can understand more complex language than you would expect based on their ability to speak.
- Low muscle tone and delayed motor development. The majority walk, most between 2 and 6 years of age. Physiotherapy is an important part of early intervention.
- Short attention span (100%)
- Hyperactivity (25%)
- Challenging behaviours including obsessive, repetitive and sometimes self-harming behaviours such as head-banging and hitting, biting or scratching self.
cats meow syndrome
The syndrome of "5p-" better known as Cat's meow Syndrome is a rare disease identified by the geneticist Jerome Leujene in 1963.
This syndrome occurs by deletion and lack of a fragment of chromosome 5. Small with this syndrome are born with low weight and with a very sharp cry. Therefore, the discoverer defined it as Cri du Chat.
This characteristic is crying as the first sign of disease but, despite that, in many cases are unaware of what the doctors and parents of affected children a real start racking up giving them the accurate diagnosis.
Cri Du Chat Syndrome General
The site cri du chat syndrome does not receive any funding from organizations or non-commercial for its hosting and maintenance. The information provided on this website is designed to support, not replace, existing relationships between patient and doctor. That is why we strongly encourage you to consult a geneticist, doctors or practitioners whose medical specialties are the consequences of this syndrome, in order to clarify the questions you and have a care medical and paramedical best appropriate for your child. We pledge to respect the legal requirements of confidentiality of medical and personal information, including your identity. We declared at the CNIL, and in accordance with the law of 6 January 1978 you have the right to access and correct information about you.
Cri du Chat Video
I found this video about Cri du Chat genetic disease, it is really very good video which explains this disease and include good usefull informations. About Cri Du Chat genetic disease.
Cri Du Chat Syndrome on Wikipedia
Cri du Chat syndrome or Cri-du-Chat syndrome (French for Cry or call of the cat referring to the specific cry of the child), also called deletion 5p syndrome, 5p minus or Le Jeune’s syndrome, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by Jérôme Lejeune in 1963.[1] The condition affects an estimated 1 in 20,000 to 50,000 live births. The disorder is found in people of all ethnic backgrounds and is slightly more common in females by a 3-1 ratio.
What is Cri Du Chat Syndrome?
- Cri du Chat Syndrome (cry of cat in french) is a genetic disorder caused by the loss or misplacement of genetic material from the fifth chromosome.
- It was first identified in 1963 by Professor Lejeune, who also identified the genetic cause of Downs Syndrome.
- This cry, along with some of the other notable features, is so characteristic of the syndrome that a doctor can usually identify the condition before a chromosome analysis has taken place.
this description from www.cridchat.u-net.com
Treatment of the syndrome
Is Cri Du Chat Syndrome Inherited?
•Most cases of cri du chat syndrome are not inherited.
• The chromosomal deletion usually occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
•People with cri du chat typically have no history of the condition in their family.
•About 10 percent of people with cri du chat syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost.
Treatment :
•Gene therapy is in its infancy and no techniques have yet been developed to treat these types of large chromosomal abnormalities.
•however there is therapy to help the child achieve his or her developmental potential.
•Early intervention programs, using a variety of therapies and educational strategies, focus on enhancing physical, intellectual, sensory and social development and have been shown to greatly improve the future outlook for the child.
•Early Intervention programs should include:
•Physiotherapy
•Speech Therapy
•Occupational Therapy
•Behavioural management (if necessary)
•Since most children with the syndrome experience severe speech development problems, speech and language therapy are vital.
•The early introduction of alternative means of communication, including a sign language such as Makaton along with a pictorial symbol system, will enhance the child's speech development, language acquisition and behaviour.
•Children with cri du chat syndrome are usually keen to communicate and many will develop their own signs and gestures to get what they want often prefering these to the more difficult formal signs.
•Children who cannot communicate effectively experience a great deal of frustration and behviour problems can develop as a result.
•Improving a child's ability to communicate by any means not only helps them to make their needs known,
• but also helps them to develop intellectually and socially, improving the quality of their lives immeasurably.
Recent Research:
•Research in the past has been concentrated in the area of medical genetics with very limited investigation of the developmental and behavioural aspects of the syndrome.
•The gene locations for the cry and the other features were found to be on separate bands of the chromosome
•Developmental researchers have been collaborating with genetic researchers for a number of years in an attempt to define how the varying genetic combinations (genotype) occurring in this syndrome affect the development and features a particular individual displays (phenotype).
•This collaboration assists the geneticist to track down the location of particular genes and identify their activity. In the future it is hoped that it will help developmental specialists to predict how severely a particular child's development will be affected. This is not possible with our current level of knowledge.
Characteristics of the Syndrome
•Major identifying characteristics•Monotone, weak, cat-like cry
•Small head (microcephally)
•High palate
•Round face
•Small receding chin (micrognathia)
•Widely spaced eyes (hypertelorism)
•Low set ears
•Low broad nasal ridge
•Folds of skin over the upper eyelid (epicanthic folds)
•Distinctive palmar creases (creases on the palms of the hands)
•feeding problems because of difficulty swallowing and sucking,
•low birth weight and poor growth
•The most distinctive characteristic,cat-like cry.
• The cry is caused by abnormal larynx development, which becomes normal within a few weeks of birth
•Infants with cri du chat have low birth weight and may have respiratory problems.
•Some people with this disorder have a shortened lifespan, but most have a normal life expectancy
•Not every child will have every feature. Those only mildly affected may have very few or they may be less obvious.
•Babies with cri-du-chat are usually small at birth, and may have respiratory problems.
•Often, the larynx doesn't develop correctly, which causes the signature cat-like cry.
• They may have a small head (microcephaly), an unusually round face, a small chin, widely set eyes, folds of skin over their eyes, and a small bridge of the nose.
•Several problems occur inside the body, as well. A small number of children have heart defects, muscular or skeletal problems, hearing or sight problems, or poor muscle tone.
• As they grow, people with cri-du-chat usually have difficulty walking and talking correctly.
•They may have behavior problems (such as hyperactivity or aggression), and severe mental retardation. Unfortunately, most people with this disorder don't survive to adulthood.
•Intellectual disability ranging from mild to profound with the majority being moderate to severe
•Speech and language impairment varying from mild to profound.
• A small number do not speak at all but all can communicate with one or a combination of methods. .
•Low muscle tone and delayed motor development.
•Short attention span (almost 100%).
•Hyperactivity (approximately 25%)
•Challenging behaviours including obsessive, repetitive and sometimes self-harming behaviours such as head-banging and hitting, biting or scratching self.
Cri du chat Chromosome 5 pair
•The critical region of the chromosome containing genes which are responsible for the main features of the syndrome appears to be located in band 5p15.2.
•The gene causing the cry has been located in band 15.3.
•This would explain why some babies with other features of the syndrome do not have the characteristic cry and some babies have the cry but not the other characteristics.
What is Cri Du Chat Syndrome?
•Cri Du Chat Syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.
•is also known as 5P Minus syndrome and Cat's-cry syndrome.
•Where does the abnormal chromosome 5 come from?
•Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase).
• This gene is important during cell division because it helps to keep the tips of chromosomes (telomeres) in tact
• It is thought that more girls than boys are born with the syndrome. The ratio is currently estimated to be 3 girls to 2 boys.
Facts About Cri-Du-Chat Syndrome
•The geneticist Jerome Lejeune identified cri-du-chat syndrome in 1963.
•He also discovered the genetic abnormality that causes Down syndrome.
•Cri-du-chat is one of the most common syndromes caused by a chromosomal deletion.
•Between 1 in 20,000 and 1 in 50,000 babies.
•In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg.
• When deletions occur during the formation of an egg or sperm, it is caused by unequal recombination during meiosis.
•When unequal recombination occurs at this location on chromosome 5, it causes cri-du-chat syndrome.