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.

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 definition

cri du chat : an infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome

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.