Definition of Cerebral Palsy vs Chromosomal Syndrome for Children with Special Needs

Recently I was sitting in a meeting regarding a special needs child, when one of the professionals in the meeting asked for the child's diagnosis.  A couple of people responded 'cerebral palsy' a couple of people didn't think that was the case.  

I didn't think that was the case because the boy was 11 years old and the size of a 5 year old.  When we checked the file we realized he was diagnosed 'Mosaic Down's Syndrome.'  
 
Children with cerebral palsy tend to look normal, children with syndromes have a 
'different' look.  Children with syndromes usually have asymmetrical facial features, smaller stature or larger stature- basically not 'normal'. 

So what's the difference between cerebral palsy and a genetic or chromosomal syndrome?

A simple definition of cerebral palsy is a trauma, injury, illness or toxin in utero, during birth or within a short time after birth. 

A more official definition of cerebral palsy is:

Cerebral palsy refers to nonprogressive syndromes characterized by impaired voluntary movement or posture, possibly a cognitive impairment and resulting from prenatal developmental malformations or perinatal or postnatal CNS damage. Syndromes manifest before age 5 yr. Diagnosis is clinical.

The phrase ‘diagnosis is clinical’ means that there are no tests for identifying cerebral palsy, diagnosis is based on an educated ‘guess’ by the physician.

I have been working with special needs children for 13 years. I find that unless a child obviously has a syndrome such as Down’s syndrome they are usually categorized as cerebral palsy.

The diagnosis of cerebral palsy is a catchall label that insurances recognize, which is important when obtaining services and equipment. At the time of a child’s birth or when the disability is identified, usually when the child is not meeting their developmental milestones, there are very few clues to assist in identifying a possible syndrome so the label seems appropriate.

But what if a child with a disability doesn’t have cerebral palsy and why does it matter?

Some children labeled with cerebral palsy actually have syndromes caused not by a prenatal, perinatal or postnatal trauma, illness or toxin. Some disabilities can be linked directly to genetic anomalies the most well known being Down's syndrome.

What is a syndrome?

A syndrome is a group of signs and symptoms that together are characteristic of a particular disease or disorder. In this frame of reference a syndrome will be defined as a chromosomal abnormality.

Kabuki Syndrome

Chromosome Abnormalities

Children with chromosome abnormalities are born with an irregular number of chromosomes (more than or fewer than 46) or with one or more chromosomes that have irregular structures (deletions from or duplications to parts of an individual chromosome, or with a part of one chromosome moved to another location).

Or a more brief definition is: Chromosome diseases are genetic diseases where a large part of the genetic code has been disrupted.

Many times it does not matter if a child has a ‘syndrome’ (chromosomal abnormality) or cerebral palsy. The cause of the disability does not affect the course of treatment or the prognosis. For example if a child has a cognitive impairment regardless of the cause, cerebral palsy or a syndrome, the therapeutic interventions and the consequences of the cognitive impairment do not change.

Knowing if a child with a disability has a cerebral palsy or a syndrome is important if:

• The syndrome is genetic and the parents are thinking of having another child.
• There are issues that need to be addressed surgically to improve quality of life of the child.
• Many times with a syndrome there are certain characteristics or behaviors that a child will exhibit and sometimes there will be documented ways of dealing with these issues that will be of help.

Angelman's syndrome seems to be a syndrome that is difficult to identify at birth but easy to identify by knowing the characteristics of the syndrome by the time the child is 4 years old.  Has anyone else noticed particular syndromes that seem to be labeled cerebral palsy that as the child develops are obviously something different?