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Possible links to other disorders


Dr Tonie Kline talking at the Essex conference.

US Medical Director Dr Tonie Kline believes that some features in CdLS are found in people with hereditary sensory and autonomic neuropathies and that if a link to a known disorder is detected this could bring benefits to researchers and to patients with CdLS.

Speaking at the Essex conference, Dr Kline said that she would be investigating abnormalities in the peripheral nervous system (nerves once they have left the brain or spinal cord) in people with CdLS.

“These abnormalities can affect motor skills, sensory input or the autonomic system – those areas that the body should self regulate such as temperature or bowel or bladder,” she said.

“Some of the things we see in people with rare disorders of the peripheral nerves apply to CdLS such as loss of sensation in the extremities (fingers/toes), pain, temperature touch and pressure. With the autonomic nervous system involvement there are pain episodes, skin blotching, sweating, bladder problems and cold extremities.”


Dr Kline has been carrying out histamine tests on patients in the States and has conducted a survey featuring 45 parents or caregivers. More than half react differently to heat and cold compared to other children and nearly three out of every four reacts differently to touch.

60% of CdLS youngsters had red blotching of the skin, 44% reported blue, cold feet or hands with 38% reporting red cold feet or hands.

Dr Kline said, “There is evidence for autonomic dysfunction in CdLS and an association between CdLS and these might help with gene localisation and provide possible treatment options.”

Getting an early start

The importance of early intervention in people with CdLS has become apparent says US medical director Tonie Kline.

In a presentation to families at the Essex conference, Dr Kline said that the average IQ level in people with CdLS had improved dramatically over the past 20 years. “Before 1980 the average IQ score was 49. After 1980 it has risen to 63”, she said. “This supports the importance of early intervention.”