Our Project:
For this project we were presented with our client named Sally S. Sally is a two year old girl with Cri-du Chat syndrome. She currently has a high-pitched cry, slow growth, slow motor development, microcephaly, hypertelsorism and micrognathia. Sally also exhibits a mild to moderate cognitive language delay with better receptive skills that expressive skills. Her parents main concerns are mal-adaptive behaviors attributed to frustration in communication, a large gap between receptive and expressive communication skills and a limited vocal repertoire.
WHAT IS CRI-DU CHAT SYNDROME?
▪ Cri du chat syndrome is also known as 5-P Minus syndrome, Le Jeune's syndrome and Cat's-cry syndrome.
▪ Cri-du Chat syndrome is a rare genetic condition where a child is born with a deletion of the short arm of chromosome 5.
▪ It has an estimated birth rate of 1- 20,000 to 1-50,000 births. There are more children being diagnosed now that genetic testing is carried out more frequently and is more accurate. In addition, since records of this nature are not kept in most countries, the actual incidence is not known.
▪ Intellectual disability is common. Half of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less noticeable over time.
▪ The cry is caused by an abnormal development of your child’s larynx due to the chromosome deletion. The syndrome is more noticeable as your child ages, but becomes difficult to diagnose past the age of two
Symptoms Include:
▪ Cry that is high-pitched and sounds like a cat
▪ Downward slant to the eyes
▪ Low birth weight and slow growth
▪ Low-set or abnormally shaped ears
▪ Intellectual disability
▪ Partial webbing or fusing of fingers or toes
▪ Single line in the palm of the hand
▪ Skin tags just in front of the ear
▪ Slow or incomplete development of motor skills
▪ Small head (microcephaly)
▪ Small jaw (micrognathia)
▪ Wide-set eyes
Here is an example of a "cat like cry" which is a common symptom of Cri-du Chat Syndrome.
WHAT IS CRI-DU CHAT SYNDROME?
▪ Cri du chat syndrome is also known as 5-P Minus syndrome, Le Jeune's syndrome and Cat's-cry syndrome.
▪ Cri-du Chat syndrome is a rare genetic condition where a child is born with a deletion of the short arm of chromosome 5.
▪ It has an estimated birth rate of 1- 20,000 to 1-50,000 births. There are more children being diagnosed now that genetic testing is carried out more frequently and is more accurate. In addition, since records of this nature are not kept in most countries, the actual incidence is not known.
▪ Intellectual disability is common. Half of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less noticeable over time.
▪ The cry is caused by an abnormal development of your child’s larynx due to the chromosome deletion. The syndrome is more noticeable as your child ages, but becomes difficult to diagnose past the age of two
- ▪ Sadly, there is no way to prevent Cri-du Chat or cure Cri-du Chat but there are many useful thereapys out there that will make living with Cri-du Chat easier and very possible.
Symptoms Include:
▪ Cry that is high-pitched and sounds like a cat
▪ Downward slant to the eyes
▪ Low birth weight and slow growth
▪ Low-set or abnormally shaped ears
▪ Intellectual disability
▪ Partial webbing or fusing of fingers or toes
▪ Single line in the palm of the hand
▪ Skin tags just in front of the ear
▪ Slow or incomplete development of motor skills
▪ Small head (microcephaly)
▪ Small jaw (micrognathia)
▪ Wide-set eyes
Here is an example of a "cat like cry" which is a common symptom of Cri-du Chat Syndrome.
Normal Development vs Cri-du chat
Normal Development vs. Development in Infants with Cri Du Chat
The overall growth and development rate may be normal in the early months or years of children with Cri Du Chat but commonly slows and becomes delayed during toddler and school-aged years. As a result, the child may have below average growth parameters. The Cri Du Chat syndrome is hard to diagnose after the age of 2 simply because the characteristics become less noticeable after that age. Research shows that children with Cri Du Chat grow and develop at a slower rate as a whole compared to a normal developing child. The areas in which children with Cri Du Chat are affected are intellectual development, speech and language acquisition, and motor skill development. Compared to the normal development of children, those with Cri Du Chat typically develop in these areas at a slower pace but are still bright, loving, and sociable children. Due to the fact that the impact Cri Du Chat will have on the child depends on how much of the 5p chromosome has been deleted, it is hard to compare developmental differenced to normal development. The intellectual impact can be gauged between mild and profound but most are either moderately of severely delayed intellectually. The impact on speech and language impairment can range from mild to profound as well.
It is important to note:
While some children with Cri Du Chat are developmentally and intellectually delayed, research has shown that children with Cri Du Chat have better receptive language skills than expressive language skills. In simpler terms, these children are able to understand more complex language and concepts compared to what they are able to express with language.
Children with Cr Du Chat typically exhibit a more hyperactive personality/behavior and also almost always have a shorter attention span compared to that of a normally developing child.
As a child with Cri Du Chat grows and develops, there are some physical attributes that are common in those children with the syndrome. For example, the face of a child with Cri Du Chat appears elongated compared to the head of a normally developing child. It also looks more triangular in shape and thinner. The eruption of baby teeth through the gums in children with Cr Du Chat is normally delayed and once the teeth do cut through they appear smaller than the average baby tooth and often have spaces between each of them.
Normal developing children will begin walking anywhere between 9 to 17 months. The time at which a child takes their first step varies depending on the individual child. It is important to realize the time a child begins walking does not necessarily determine a developmental delay. In children with Cri Du Chat, majority begins walking between 2 and 6 years of age due to low muscle tone and delayed motor development.
In general, the developmental milestones in children with Cri Du Chat will usually emerge slowly and show increasing delays with both the increasing age of the child.
The overall growth and development rate may be normal in the early months or years of children with Cri Du Chat but commonly slows and becomes delayed during toddler and school-aged years. As a result, the child may have below average growth parameters. The Cri Du Chat syndrome is hard to diagnose after the age of 2 simply because the characteristics become less noticeable after that age. Research shows that children with Cri Du Chat grow and develop at a slower rate as a whole compared to a normal developing child. The areas in which children with Cri Du Chat are affected are intellectual development, speech and language acquisition, and motor skill development. Compared to the normal development of children, those with Cri Du Chat typically develop in these areas at a slower pace but are still bright, loving, and sociable children. Due to the fact that the impact Cri Du Chat will have on the child depends on how much of the 5p chromosome has been deleted, it is hard to compare developmental differenced to normal development. The intellectual impact can be gauged between mild and profound but most are either moderately of severely delayed intellectually. The impact on speech and language impairment can range from mild to profound as well.
It is important to note:
While some children with Cri Du Chat are developmentally and intellectually delayed, research has shown that children with Cri Du Chat have better receptive language skills than expressive language skills. In simpler terms, these children are able to understand more complex language and concepts compared to what they are able to express with language.
Children with Cr Du Chat typically exhibit a more hyperactive personality/behavior and also almost always have a shorter attention span compared to that of a normally developing child.
As a child with Cri Du Chat grows and develops, there are some physical attributes that are common in those children with the syndrome. For example, the face of a child with Cri Du Chat appears elongated compared to the head of a normally developing child. It also looks more triangular in shape and thinner. The eruption of baby teeth through the gums in children with Cr Du Chat is normally delayed and once the teeth do cut through they appear smaller than the average baby tooth and often have spaces between each of them.
Normal developing children will begin walking anywhere between 9 to 17 months. The time at which a child takes their first step varies depending on the individual child. It is important to realize the time a child begins walking does not necessarily determine a developmental delay. In children with Cri Du Chat, majority begins walking between 2 and 6 years of age due to low muscle tone and delayed motor development.
In general, the developmental milestones in children with Cri Du Chat will usually emerge slowly and show increasing delays with both the increasing age of the child.