Children with CDCS are usually developmentally-delayed, and will fall into either moderate or severe learning difficulties categories by the time they reach school-age.  There is some evidence of a slightly different form of CDCS, which has similar physical features but does not cause learning difficulties.  Physical features of CDCS include lowered ears, downward slanting eyes and only a single crease on the palms of the hands.

The most significant difficulties for children and adults with CDCS are speech and language, sleep disruption and behaviour.

1. Speech & Language – expressive communication is delayed and does not fully develop in some CDCS children.  In most children, verbal communication is usually quite good, however.  They show good comprehension (which is significantly higher than their expressive capabilities would indicate), and usually adapt well to alternative methods, e.g. sign and symbol use.
2. Sleep disruptions – a large number of children with CDCS show disrupted sleep patterns, usually waking repeatedly throughout the night.
3. Behaviour – children with CDCS can show aggressive and disruptive behaviour, and hyperactivity.  This may be linked to sleep problems.

If children with PKU are identified within the first few weeks of life, they can be placed on a special diet that eliminates proteins.  This prevents the occurence of brain damage and allows the child to develop normally.  Undiagnosed children develop severe learning difficulties.

There seems to be evidence to suggest that symptoms of PKU will be reduced if a strict diet is followed, even for adults who have been diagnosed late in life andhave already suffered neurological damage.  Most of the benefits seem to be around behaviour and immunity to disease.  There is some suggestion that a mild form of PKU may cause similar symptoms to ADHD / ADD, resulting in possible mis-diagnosis.

Find out more on PKU here…

Find out more about Kabuki Syndrome here