Cri du Chat Syndrome (CDCS)

Posted on June 8th, 2008 in Learning Difficulties Info by fweep2  Tagged , , ,

CDCS was discovered in 1963 by a French geneticist called Jerome Lejaune.  It is quite a rare syndrome, affecting around 1: 50,000 births.  CDCS is characterised by a high-pitched cat-like cry that is present in newborns, although it almost always disappears with age.

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.
Other commonly linked difficulties with CDCS include proneness to constipation and respiratory / ear infections; most CDCS children will have lower muscle tone than usual.
This website gives a brief and clear overview of the syndrome, and also shows the development of Stephen from newborn to 20, through a diary kept by his mum.
You can also find out more at the UK CDCS support group

PKU – what is it?

Posted on September 2nd, 2007 in Learning Difficulties Info by fweep2

PKU stands for Phenylketonuria, a rare genetic disorder which affects a persons ability to convert certain amino acids in their body.  The unconverted amino acids are toxic to the central nervous system, and result in brain damage, epilepsy and other 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…

Kabuki Syndrome part 2

Posted on July 17th, 2007 in General, Learning Difficulties Info by fweep2

Hi there – some colleagues from Australia have asked me to link to their site which tells you more about Kabuki Syndrome… so click here to visit the site. Its really clearly laid out and written and well worth a visit to find out more about Kabuki Syndrome. You can also find the link on the Blogroll!

Employability skills…

Posted on June 13th, 2007 in General, Learning Difficulties Info by fweep2

well… i maybe slightly addicted to youtube at the moment, but i really like this video clip of a young man called Junior, who has Angelman Syndrome, developing his employability skills. It doesnt look like the most exciting job in the world, but it does show that someone with even quite complex learning difficulties can master tasks which are useful in the workplace – Junior is also profoundly deaf and has a visual impairment.

Sensory Integration

Posted on June 11th, 2007 in General, Learning Difficulties Info by fweep2

Follow this link to an interesting paper on Sensory Integration or click on the link in the web links bar below. My colleague George kindly contributed this paper from his work in Music Therapy! thanks G!

Kabuki Syndrome

Posted on May 10th, 2007 in General, Learning Difficulties Info by fweep2

The second video clip from the Hope Centre mentions a rare syndrome called “Kabuki Syndrome”.

Find out more about Kabuki Syndrome here