Exploring…5Pminus
Cri du Chat Syndrome
Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or Cri du Chat Syndrome. 5p- Syndrome is characterized at birth by a high-pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications. “5p-” is a term used by geneticists to describe a portion of chromosome number five that is missing in these individuals. 5p deletion is a spectrum disorder.
Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, and medical and educational professionals to help the child achieve his or her maximum potential.
Years ago, it was common to place children with 5p- Syndrome in institutions with other severely developmentally delayed individuals. During the early 1980s, research revealed that those raised in family settings with the benefit of early intervention programs made remarkable progress, far exceeding the expectations of doctors who first described the syndrome.
Most individuals who have 5p- Syndrome have difficulty with language. Some become able to use short sentences, while others express themselves with a few basic words, gestures, or sign language.
Nearly all children with 5p- Syndrome have poor muscle tone when they are young. Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant cognitive delays. A small number of children are born with serious organ defects and other life-threatening medical conditions, although most individuals with 5p- can anticipate a normal life expectancy.
Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational intervention, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.
Characteristics
What are the characteristics of Cri du Chat Syndrome?
- A cry that is high-pitched and cat-like
- Low birth weight and slow growth – failure to thrive
- Small head circumference (microcephaly)
- Small jaw (micrognathia)
- Wide-set eyes
- Downward slant of the eyes
- Extra fold of skin over the inner corner of the eye (Epicanthal Folds)
- Low-set or abnormally shaped ears
- Skin tags
- Partial webbing or fusing of fingers or toes
- Single line in the palm of the hand (simian crease)
- Low muscle tone
Other characteristics and symptoms include:
- Cognitive delays
- Gross motor delays
- Fine motor delays
- Speech and language delays
- Inguinal hernia
- Constipation
- Sleeplessness
Diagnosis
How is Cri du Chat Syndrome diagnosed?
Cri du Chat syndrome is diagnosed by a blood test that is put through a full genetic testing.
There are various tests that can be used to determine if your child has Cri du Chat Syndrome. The first is a simple Chromosome Analysis also known as a Karyotype. The Karyotype will map out your chromosomes and will let you know if something is missing (or added). An example of a karyotype for Cri du Chat Syndrome would be: 46,xx,del5p14.2. To translate this, it would be as follows: the number “46” means that you have 46 chromosomes (23 pair); “xx” in this case means it is a girl with two “x” chromosomes (a boy would be “xy”); del5p indicates that there is a deletion on the 5th chromosome, “p” arm. A chromosome consists of a “p” or short arm and a “q” or long arm and then the centromere which is in the area where the “p” and “q” connect. Next, the 14.2 is the location on the “p” arm where the deletion has occurred.
Another test that is being used is called FISH testing. FISH stands for fluorescence in situ hybridisation. This test looks for gene changes in cells. Genes make up your DNA and control everything the cell does, including when it grows and reproduces. FISH tests look for specific genes or parts of genes. The FISH test can be used when providing a diagnosis for Cri du Chat Syndrome and may provide a very similar karyotype as above.
A third test, and also the newest testing that families are seeing done with their children, is called Chromosome Microarray Analysis. A Microarray analysis is a DNA-based method of genetic analysis, used to identify significant chromosome abnormalities. The way it works is a DNA sample is prepared and hybridized to a glass slide. Then a large number of molecular probes are arrayed. The probes have small segments of DNA from the patient and are compared to a control DNA. This type of analysis is able to diagnose deletions and duplications of whole chromosomes, portions of chromosomes, and specific locations. A chromosome analysis from a Microarray will have more information on it and will provide you with the exact location of the deletion or duplication.
Development
Here’s some things to look for when it comes to development with 5P- syndrome.
- Gross and fine motor skills
- Expressive speech and language delays
- Communicate by sign language, communication devices, gestures and a few basic words
- Poor muscle tone (hypotonia)
- Slow growth associated with failure to thrive
- Constipation
- Low Birth weight
- Normal Life expectancy
- Young adults may have premature graying
- Most children walk, although at a slower pace and with a guarded gait.
- Majority of children do not achieve toilet training.
- Many children and adults have sleep issues.
- Some have visual problems.
- 80% of children have a hearing condition known as hyperacusis (hypersensitivity to noise).
- Children with CdCS undergo typical changes in puberty at the appropriate age
- Many children have seizures ranging from Grand Mal to silent.
- Very few adults are able to work with supervision.
- Even fewer adults are able to live independently.
- Most children with CdCS have behavioral issues
- Attention Deficit Hyperactivity Disorder (ADHD).
- Poor concentration.
- Impulsiveness and OCD.
- Biting, hair pulling, pinching and hitting.
- Temper tantrums, stubbornness, frustration, self-biting, head banging and skin picking.
- Autistic-like characteristics- some are dually diagnosed with Autism.
- Hand flapping, string twirling and rocking.
Treatment
Occupational therapy
Occupational therapy benefits our kiddos by providing fine motor, visual perceptual, self-care and sensory integration intervention to assist the child/young adult to maximize their skills, develop new skills and be able to relate more effectively to the environment around them. Occupational therapists who work with children have education and training in child development, neurology, medical conditions, psychosocial development, and therapeutic techniques.
Physical Therapy
Children with Cri du Chat syndrome may experience physical difficulties during their growth and development. Physical therapy can help your child’s physical development in the following ways: helping them to sit, stand, improve fine motor skills, etc. The goal of physical therapy for children is not to speed up the rate of their development, but to facilitate the development of optimal physical movement.
Speech Therapy
Speech therapists work with children from an early age to aid in swallowing by providing advice on what best methods exist for feeding. As children with Cri du Chat syndrome grow older, they may experience problems with their speech. Speech therapists provide guidance on assisting children with communication issues by utilizing and teaching different methods of communication such as: sign language, picture exchange system, technology assisted communication, etc.
Alternative Therapies
Many families have found the use of alternative therapies as a way to complement Occupational, Physical and Speech therapy. Here is a list of therapies that other children and/or adults with the syndrome have benefited from:
- ABA Therapy (Applied Behavior Analysis)
- Adaptive Physical Education
- Aromatherapy
- Aquatic Therapy
- Behavior Therapy
- Cranial Sacral Therapy
- Dolphin Therapy
- Hippo-therapy (also known as Horse Therapy)
- Music Therapy
- Play Therapy
- Pragmatic Group Therapy
- Sensory Learning Therapy
Reprinted with permission of the fivepminus organization