The rare condition Phelan-McDermid Syndrome means children are slow to develop cognative skills. But a new centre offers fresh hope, writes Kathy Burke
You take for granted a lot of the things a baby learns to do, Audrey Morgan said, while her youngest child, Adam, sits at the centre of the sitting-room floor, watching kids singing and dancing on afternoon TV.
He is two-and-a-half-years-old, but one year ago, he could not sit-up. He doesn't yet stand up by himself. Today, his father lifts him to standing position. Adam begins to lift his knee, kneel it down, and stand up again. His parents say he is practising an exercise routine that they learned from therapists at a new centre called Athas, in Navan, Co Meath. The Athas centre works with children with delayed cognitive development.
Adam doesn't talk yet, but has learned lately to use and understand two words. In 2004, Adam was diagnosed with a rare genetic disorder known as Phelan-McDermid syndrome, in which a DNA sequence on chromosome-22 is missing. This missing DNA would normally code for a structural protein in neuron synapses.
Children born with the 22q13.3 deletion don't begin to get curious about their environment, or use language, as most babies do. The syndrome was first diagnosed in 1996. Today, there are slightly more than 200 known cases worldwide. Of those, three children are in Ireland. Slow cognitive development is among the first symptoms, which are similar at first to cerebral palsy and are sometimes misdiagnosed as autism.
"He was floppy, not interested in things, not grabbing at things," Audrey says. "Rather than sit up, he would fling himself back."
Having met various doctors, the Morgans brought Adam to Temple Street Hospital. Genetic tests revealed the 22q13.3 chromosomal deletion. Doctors referred them to support groups, Jack and Jill and Unique. Along with their local organisation, Snap, Alan and Audrey say these groups provide excellent help and support.
The Jack and Jill Foundation put the Morgans in contact with a UK-based therapy centre called Brainwave. (This is a separate organisation to the Irish Epilepsy Association, also called Brainwave.) They travelled to Somerset for an assessment. Fortunately, Brainwave opened the Athas centre in Ireland in March last year.
Adam has seen many doctors, nurses, physiotherapists and other healthcare professionals. His parents say the difference with Athas is that where others point out what is "wrong" and make comparisons to a healthy two-year-old, "Athas highlights what is positive about the child". They credit that approach for Adam's recent progress.
On their first day at Brainwave in Somerset, therapists assessed his capabilities relative to his age and created a programme of exercises to develop his physical and cognitive ability. On the second day, they demonstrated the exercise programme to his parents, taught them how to perform it with him, and gave them a video-aide.
Exercises with Adam take an hour a day. These include movement exercises for his arms and legs, push-up exercises to strengthen his upper body, tactile exercises, standing with support, and cognitive exercises, using pictures and objects and play-routines that encourage him to "explore".
Both parents praise the enthusiasm and positive approach taken by the therapists. Adam's comprehension and communication have developed, Audrey says. "He takes much more notice of what is happening around him, watches television and plays a lot more. His upper body has strengthened and he is standing more steadily, with support. He can now get up again when he falls down. We didn't expect him to progress this quickly."
His parents are clearly delighted that Adam now plays with his brother and sister on their trampoline. However, even though Audrey left her job to stay home, she says the exercises require four helpful hands at a suitable time, every day - and she says they may have to advertise for help.
Steve Franklin is a therapist at the Athas centre. He describes their work as helping children reach their potential, where their development is delayed by illness or otherwise.
Phil Edge was involved in setting up the developmental therapy centre, Brainwave, in 1986. It was incorporated as a charity in 1982.
"It was based on a therapy that was developed in the Institute of Achievement of Human Potential in Philadelphia in the 1960s, and came to the UK in the 1970s," Edge says. "We have seen a few hundred Irish children over the years. As numbers grew, we thought we ought to consider setting up a permanent centre in Ireland."
He says about half the children who attend have cerebral palsy, though an increasing number are diagnosed with developmental delay. "The cause of a child's problems may not be obvious.
Sometimes, there is no illness, no trauma, no difficulties in birth and brain scans are normal, yet problems manifest, usually through delayed gross motor function.
"In other words, they are slow learning to crawl or walk, and have delays in speech, using vocabulary or putting words together."
Edge explains that repetition, intensity and duration of exercises are fundamental. New neural pathways are being formed through exercise, he says.
Aspects of therapy programmes include stretching to increase muscle tone, exercise for balance, co-ordination and primer-control (using hands), and learning to understand colours, words and sensations.
Edge addresses the issue of cost. The initial assessment at Athas costs €500. "As a charity, we have access to various funds where there is a financial consideration. We get over that obstacle if the family consents to us fundraising on behalf of their child," he said.
He strongly emphasises that the parents deserve credit: "We have nothing but admiration for them. We can assess children, create a programme and give equipment and support. But it is the parents who do the hard work."
An international conference on Phelan-McDermid syndrome will take place in the US next year. The Morgans intend to raise the funds necessary to attend. Because Adam's syndrome was first defined as recently as 1996 and there are so few cases globally, the event is important to families of children with the chromosomal deletion.
Contact Áthas on tel: 046 9059532 or at athasnavan@hotmail.com