Tallaght Hospital, 15 June 2001
This Scientific Meeting presented the results of the first major Irish and international research project performed on children and adolescents with Down Syndrome (DS) by Ms Joan Murphy, Dr Magued Philip and Professor Hilary Hoey of the TCD Department of Paediatrics at The National Children’s Hospital. Following the research we produced the Guidelines on the Medical Management of Children and Adolescents with DS in Ireland. The results of this study give evidence-based data which support the need and appropriateness of the guidelines presented for children and adolescents with DS in Ireland.
Down Syndrome is the most common genetic cause of developmental disability in Ireland and has a birth prevalence of 1 in 580 live births—the highest in Europe. In Ireland the population of people with DS is in the region of 4,500 to 6,000- It is well recognised that the syndrome is accompanied by a high incidence of treatable medical disorders. All studies show that early intervention carries a better outcome for quality of life and life expectancy. With medical progress many persons with Down Syndrome now live into their 60s. Until now there were no consensus guidelines for the screening and management of children and adults with Down Syndrome in Ireland.
Irish and UK experts from many healthcare disciplines involved in the care and management of this group gave excellent presentations at the scientific meeting.
Research results and guidelines:
- Joan Murphy made a very impressive presentation on the results of our research in Ireland and showed in this large cohort of children with DS the incidence and management of medical problems. A brief summary of her report is given below.
- Professor Hilary Hoey presented the Guidelines for the Medical Management of Children and Adolescents with Down Syndrome in Ireland.
Other areas covered:
- Breaking the news in the newborn, presented by Dr Margaret Sheridan, Consultant Neonatologist/Paediatrician, The Woman’s Hospital, Coombe,
- Growth Problems in DS and the launch of the new growth charts (UK and Ireland), presented by Dr Liz Marder, Consultant Paediatrician (UK), and Vice Chairman Down Syndrome Medical Interest Group (DSMIG)
- Development and early intervention, presented by Dr Sheila Macken, Consultant Developmental Paediatrician, The Children’s Hospital, Temple Street
- Cardiac problems in children with DS, including investigations, treatment and an excellent video of a heart echo showing anomalies, presented by Dr Desmond Duff, Consultant Cardiologist, Our Lady’s Hospital for Sick Children, Crumlin
- Thyroid problems in DS and investigations and treatment, presented by Dr Gerard Boran, Consultant Chemical Pathologist, AMNCH, and Dr Philip Maine, Consultant Chemical Pathologist, Head of the Irish Metabolic Screening programme, The Children’s Hospital, Temple Street
- Visual disorders in DS including investigations, treatment and management, giving a very graphic picture of the many varied disorders in this group, presented by Mr Michael O’Keefe, Consultant Ophthalmologist, The Children’s Hospital, Temple Street
- Hearing disorders in DS, including hearing screening, and surgical and medical management, presented by Mr Michael Harney, Senior Registrar ENT, and Mr Don McShane, Consultant ENT Surgeon, AMNCH
- Speech and language difficulties in children and adolescents with DS, including services and management, presented by Ms Clothra Ní Cholmáin, Clinical Tutor, Clinical Speech & Language Studies, Trinity College.
- Orthopaedic problems including cervical spine instability in children with DS, presented by Mr Esmond Fogarty, Consultant Orthopaedic Surgeon, The National Children’s Hospital AMNCH and Our Lady’s Hospital for Sick Children, Crumlin
- Professor Ward gave a wonderful presentation on Dr Langdon Down and showed us super pictures of very elegant people with DS from the 1800s.
- Dr Austin O’Carroll, who himself has a disability, gave an excellent overview of care of a child with disabilities in General Practice.
- Mrs Maura Connolly, Matron/Manager, The National Children’s Hospital, gave an excellent presentation on the care of children with special needs in hospital.
- Mrs Ann Haig, whose two-year-old Ali has DS, spoke about her experiences and indicated in a very positive way what she as a parent needed and still needs for the best medical care for her daughter. She stressed the need for medical management guidelines so that she would have the knowledge to collaborate and support the appropriate management together with the health care professionals.
- Emily, a young adult with Down Syndrome, now in full-time open employment with an American company in Tipperary, delivered a wonderful speech on her varied and successful achievements and the exciting path she has planned for her future.
- Dr Jennifer Dennis, Consultant Paediatrician (UK) and Chairman DSMIG, highly commended the quality and importance of the research presented by Joan Murphy. She fully endorsed the guidelines presented and discussed their implementation in Ireland.
The Irish research
This is the first growth study of children with DS in Ireland. Children with DS are shorter and have a smaller growth spurt at puberty. Their weight for height is greater, however, and increases with age. Therefore excessive weight gain needs to be controlled with good diet and exercise. We forwarded this Irish growth data to the UK to enable the development of specific growth charts for Irish and UK children with DS. (These are now available and are being used in the pilot project ‘Personal Held Child Record PHCR booklets from May 2001 in Limerick.)
Congenital Heart Disease
Of the 394 children examined during the study, 171(43.4%) had no cardiac anomalies. 64 (16.2%) had innocent heart murmurs which needed no intervention, but did require investigations to rule out cardiac anomalies and assure the parents that everything was normal. 151 (40-4% had cardiac anomalies, of whom 43 (10-9%) children had Atrial Ventricular Septal Defect (AVSD) requiring early intervention. 56 (14%) patients underwent surgical intervention, while 32 (8.1%) patients were treated medically.
Children and adolescents with DS have an increased incidence of thyroid dysfunction, which can be progressive in nature. The thyroid gland makes the hormone thyroxin which is essential for growth and mental development in children and thus is especially important for the child with DS. Clinical diagnosis is difficult, requiring a blood sample and laboratory tests. Giving a blood sample may be particularly traumatic for a young child who has intellectual disability. In this study we took blood by finger prick and used the Guthrie Card (blotting paper), which is used for screening in the newborn period. Test samples were sent to The National Screening Centre, The Children’s Hospital, Temple Street, where Dr Philip Mayne performed the analysis. We found 16 (4.1%) children to have an under-active thyroid (5 of whom had not been previously detected. The finger-prick blood sample can be taken with little trauma (only two of the children tested cried during the test), and in the centre the child attends daily—or it can be done at home. We hope that children will be tested yearly or two-yearly. Previous studies show a prevalence ranging from 0-7% in neonates to 16.4% in school-age children, with increases in adult life to 22%. (In the general population the incidence is 0-2% to 2% in adults.)
Lifelong audiological surveillance is essential for all people with DS; studies have shown that 60–85% of children with DS have mild/moderate hearing loss, and there is increased incidence of conductive, mixed and sensorineural hearing loss in adolescents and adults. Hearing impairment can lead to problems with speech and language development, so that early identification and intervention are required. Assessing hearing is a complex procedure for any child—and particularly for a child with intellectual disability—but once it is identified, hearing impairment can be successfully managed.
This is the first time internationally that such a study has assessed the hearing function of children and adolescents with DS using otoscopy (clinical examination of the ear canal and tympanic membrane), tympanometry (to assess middle ear function) and Distortion Product Oto Acoustic Emissions (DPOAE) to assess inner-ear function. The last two tests are carried out using portable machines which provide quick, objective screening tests, are easy to use and require no patient feedback. The tests can be performed when the child is asleep, or awake and sitting quietly.
Clinical examination—65.6% abnormal (mild to severe wax, perforated tympanic membrane, small ear canals)
Middle ear function—48% abnormal tympanograms (conductive hearing loss or Eustachian tube dysfunction)
Inner ear function (cochlear)—10-8% normal inne- ear function at 3 frequencies, 89.2% abnormal inner-ear function, of whom 28.6 % had mild hearing loss, 49.7% had conductive hearing loss and 10-4% had possible sensory-neural hearing or mixed hearing loss.
DPOAEs—an easy, objective non-invasive screening test that can be performed in infants shortly after birth. Absent DPOAEs may indicate hearing loss of 35 dB or greater.
A high proportion of children had speech impairment (371, i.e.94.5%). Six children (1.5%) had normal speech for their age. 16 (4%) were not tested as they were unable to cooperate on the day of the study. Parents reported difficulties in obtaining speech therapy throughout childhood. As speech developments starts in infancy, speech therapy would be most beneficial from the earliest stages of development. With the present shortage of speech therapists, it may be appropriate for parents to be trained to deliver speech therapy with ongoing professional supervision and evaluation. We are presently looking at international best practice.
Over 400 delegates attended the meeting, from twelve Irish counties and from the UK. Health professionals from a broad spectrum of care disciplines attended—psychiatry, psychology, paediatrics, neonatology, physiotherapy, speech and language therapy, occupational therapy, play therapy—and also area medical officers, clinical nurse managers, research nurses, medical directors of developmental centres, general practitioners, nurses in early intervention programmes and public health nurses.
Mr. Pat Clarke, President (ex officio) of Down Syndrome Ireland, who sponsored the research study, expressed his gratitude to the team for their work in bringing the research so far forward and expressed his hope, on behalf of DSI, that the implementation of the guidelines would soon be implemented nationally. The guidelines have been received with praise and gratitude by parents and health-care professionals. Since the meeting there have been over 500 enquiries, with requests for information and copies of the guidelines.
We are very grateful to the many health-care professionals with expertise in the management of children and adolescents with Down Syndrome in Ireland, who contributed to the Irish edition of the guidelines and to Down Syndrome Ireland for funding the research. We are grateful to the National Children’s Hospital Foundation for sponsoring the scientific meeting and for all those who took part on the day.