International Cri du Chat Awareness Week
Today is the beginning of the 2nd annual International Cri du Chat
Syndrome Awareness Week. The 5p- Society has joined with other support
organizations around the world in an effort to spread awareness of the
syndrome. Some families are spreading awareness by sharing their story
with their friends and families. Other families are contacting the
media for possible stories. We have other families who are attending
events or giving talks at their churches and child's school.
We hope you are taking the time to educate your community about the CdCS.
The 5p- Society has done several things in preparation of the event
1. We have updated the International Website at www.criduchat.org. Adam Buckner, a fairly new parent to the organization, has redesigned the page. Take a look!!
2. We have prepared a professionally made video that emphasizes that it is more important to focus on what your child can do instead of the things you were told that he or she cannot or will not do. We are very proud of this production and would like to thank parent, Adam Greenberg for his energy and knowledge in getting this done. This video is phase 1 of the "I Can" video campaign. Phase 2 will be release sometime in the fall and there will be some filming done at the New York conference. The direct link for the video.
3. We have added more items to the Cafeshop page www.cafeshop.com/5pshop
4. We have sent out over 500 brochures and sold over 200 bracelets since the 1st of the year.
5. Our FaceBook group page www.facebook.com/groups/385907554759706 has grown tremendously with members throughout the world and continues to be a place of solace for families of newly diagnosed children with the syndrome.
6. We have teamed up with some of the other support organizations in dedicating May 5 as Cri du Chat Syndrome Day!!
Please feel free to contact us if you have any questions. it is all about us!!
Laura Castillo
Executive Director
5p- Society PO Box 268
Lakewood, CA 90714-0268
(888)970-0777 - (562)920-5240-Fax
www.fivepminus.org
Signs and symptoms
The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About 1/3 of children lose the cry by age 2. Other symptoms of cri du chat syndrome may include:
- constipation.
- feeding problems because of difficulty swallowing and sucking
- unusual facial features which may change over time
- low birth weight and poor growth
- excessive drooling
- severe cognitive, speech, and motor delays
- behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements
what is Microarray?
Microarray CGH: This method employs array elements that are prepared from large-insert genomic clones like BACs or phage artificial chromosomes (PACs). Its measurement precision allows reliable revealing of single-copy abnormalities affecting individual clones.
what is Skeletal radiography
This technique can highlight microcephaly, cranial base malformations such as lower cranial base angle or abnormally formed sella turcica and clivus, retromicrognathia, disproportionately short metacarpals (especially third, fourth and fifth) and disproportionately long proximal phalanges (especially second, third, fourth and fifth).
what is Chromosome comparative genomic hybridization
Chromosome comparative genomic hybridization (CGH): This technique is able to screen the whole genome for any DNA copy-number alterations in just a single hybridization. However, the results cannot be mapped directly to genome sequence and the resolution is restricted to around 5-10 Mb.
What is Fluorescence in situ hybridization (FISH)
FISH : This technique employs genetic markers which are precisely localized in our interested areas. Molecular cytogenetic studies along with FISH help in a better diagnosis of the very small deletions of 5p. if a fluorescent signal is absent from either paternal or maternal 5p chromosome regions, it is a clear indication of monosomy for that chromosomal region.
Diagnosis and work-up for Cri du Chat Syndrome
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.
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.
Medical Problems Associated with Cri Du Chat Syndrome
Children affected with cri du chat syndrome experience several medical problems soon after birth as well as during their growth as they grow old. During birth, the medical problems found in a few children include
• Heart defects, mostly ventral and atrial septal defects and rarely endocardial cushion defects and tetralogy of Fallot
• Rare occurrence of Cleft Palate
• Rare occurrence of kidney abnormalities
• Development of scoliosis in a few children
• Occasional occurrence of inguinal or abdominal hernias at birth
• Minor skeletal problems such as hip dislocation or deformities in the feet
• Bowel abnormalities
• Rare occurrence of epilepsy
• Intubation problems for anesthesia found in a very few cases owing to abnormal formations of larynx as well as epiglottis
• Problems with swallowing as well as sucking found in newborn babies but the swallowing difficulties sometimes prevail longer.
The additional problems that exist when the child grows are as follows
• Minor hearing problems. Impairment of hearing is severe rarely and needs hearing aids
• Turned eye or strabismus is common at times and needs to be consulted with a doctor since many individuals do not grow out of it like other problems and affects the vision. But treatment at the right time will help. Other visual problems may also persist. (http://cri-du-chat-syndrome.blogspot.com)
• Common occurrence of hypotonia or low muscle tone in infancy but may alter to high muscle tone or hypertonia as the child ages. In order to avoid this, physiotherapy is of tremendous help.
• Dysphagia or swallowing and sucking difficulties persist. The child will be able to suck weakly and may choke and cough while swallowing. Even this problem needs doctor treatment since aspiration pneumonia may result if not treated properly.
• Presence of gastrointestinal abnormalities in a few babies
• Common presence of gastric reflux in infancy and normally needs to be treated by a doctor.
• Common occurrence of chronic constipation, which can often start in the age when the child is one or two years and can also persist all through their lives. However, treatment exists and this problem can be managed well in almost all cases.
• The affected child obtains frequent ear infections to the extent that they need grommets in their childhood.
• The affected children also experience problem with controlling their saliva which leads to drooling. In the most severe cases where they have not been treated even at an older age, there will be a need for surgery. Hence get the child treated at an earlier age. cri du chat
• Common occurrence of dental problems owing to skeletal malformations
• The affected child does not take interest in food and ignores it
• Fatal owing to constant illness, refusal to drink or eat and severe reflux.
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.
other names of cri-du-chat syndrome
What other names do people use for cri-du-chat syndrome? There are 5 different names for this disease in all over the world. There are:
cat cry syndrome
chromosome 5p- Syndrome
5p deletion syndrome
monosomy 5p
5p- syndrome
Symptoms of Cri-du-chat syndrome
* Cat-like infant crying
* Cat-like cry in infants
* Abnormal laryngeal development in infants
* Low birth weight
* Severe mental retardation
* Severe growth retardation
* Small head
* Reduced muscle tone
* Round face
* Low set deformed ears
* Wide-set eyes
* Epicanthic folds
* Respiratory problems
* Feeding problems
* Scoliosis
* Cardiovascular defects
* Language delay
* Self-injury behavior
* Communication difficulties
* Headbanging
* Self-biting
* Low I Q
* Creases on the palm of hand
* Strabismus
* Simian crease
* Slightly short hand bones
* Malocclusion
* Harelip
* Cleft palate
* Failure to thrive
* Shuffling gait
cri du chat links
What is Cri du Chat?
Physical and Medical features
Early Development Milestones
Sleeping Difficulties
Hearing and Vision
Language and Communication
Common Behavioural Difficulties
Respite Care
Socialisation and Daily Living Skills
Schools Related Difficulties
Leaving School - What Next?
Impact on the Family
Useful definitions
www.criduchat.co.uk
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.