Current Practice Caring for children with Down syndrome: a medical checklist

Down syndrome (DS) consists of the largest group of children with mental retardation due to a single recognizable syndrome. Once the diagnosis of DS is made (by the paediatrician, neonatologist or family physician), it ushers in a series of investigations for associated medical problems. This is because in this syndrome almost every system or organ in the body needs special attention. Appropriate interventions, if carried out on time, can reduce complications and improve the quality of life of these children. It is therefore important that all doctors caring for children with Down syndrome are updated with the latest recommendations and are mindful that they should avoid inflicting undue hardships on the family. This article presents an age specific preventive medical checklist for use by paediatricians, family physicians and others. Its objective is to improve the health of DS children. The educational aspects have not been included in these guidelines although the care of DS involves families and educators in addition to health professionals. Usually protocols and medical guidelines are the result of deliberations of committees and experts. I have put together here accepted current practices based on standards stipulated by several recognized medical organizations. They reflect recent advances acceptance by the Down Syndrome Medical Interest Group (UK) and American Academy of Paediatrics in USA. Suitable modifications for local adaptation have been made taking into account availability of expertise and referral pathways. It is hoped that these checklists will constitute a feasible programme of medical care for children and adolescents with DS. Birth- one month • A complete neonatal examination. • Break news to parents. • Address parental concerns

Leading Article Play: have we forgotten its importance?

Children, the world over, play. Do paediatricians, during their professional work with children, utilise this childhood activity adequately? Or, does this childhood occupation only deserve the attention of parents, teachers, child minders and others rearing children but not that of paediatricians? What is play? Prior to answering the above questions we need to clarify what is meant by play. Many books have been written on this subject but each author defines play somewhat differently. So do dictionaries. The Oxford Dictionary defines play as 'spontaneous activity of children or young animals', the Chambers English dictionary as 'acts not part of the immediate business of life, but in mimicry or rehearsal ' and still others as 'to amuse oneself, ' 'to behave without seriousness' and 'to engage in pleasurable activity". To those of us working with children professionally, a more searching definition covering practical aspects of play with a relevance to paediatrics and child care is necessary. Bronfenbrenner 1 and Garvey 2 outline certain characteristics as being critical to play. Catherine Garvey in her book entitled "Play " claims that a definition encompassing all the following features is necessary for a better understanding of this subject. These characteristics are: 1. Play is pleasurable Is positively valued by the 'player ' even when not accompanied by signs of mirth. 2. Play is spontaneous. Is undertaken without much persuasion or force. 3. Play is voluntary. Is not obligatory but freely chosen by the player

Professor C C de Silva Oration 2003 The air we breathe: is it safe for children?

College Hospital London two years later, where he completed his studies. He was appointed the first Professor of Paediatrics in this country in 1949. He occupied the chair in Paediatrics in Colombo until his retirement in 1966. During this period his untiring efforts obtained ‘swaraj ’ for Paediatrics in the hospital sector as well as within the university system. As a researcher, Prof. C. C. was the first Ceylonese to publish in the British Quarterly Journal of Medicine and in the same year, 1948, his first article appeared in the British Medical Journal. Professor C. C. was a wide angled clinician with many firsts to his name, such as the first reported case of thalassaemia and of kwashiorkor in this country. This list is long. Professor C. C, the social worker, helped found the Thalagolle Nutrition Rehabilitation Centre and was a staunch activist in family planning work in the 1950’s. His writing skills unfold in two book-length biographical style writings “Out Steppes a Don ” and “Life as I lived it”. As an educationalist Professor C.C. de Silva had a vision way ahead of his times. This is evident in his farewell lecture entitled “What’s wrong with you and me” delivered to medical students of both Colombo and Peradeniya. Referring to the then pass rate of 28 % at the ‘Finals’, Professor C. C. de Silva recommended introducing continuous assessment, small group discussions and limiting lecture hours to enable more time in the wards. It was only in 1994 that the Faculty in Colombo implemented these across the board. The pass rate at the finals is now over 95%. I belong to a generation that went through medical school after the retirement of Professor C. C. de Silva. What link I may claim to his teachings and endeavours are those that percolated through the first group of medical students who came under his tutelage. It was to the ‘batch of 1950 ’ that Professo

Dancing eyes and dancing feet syndrome 1

Case report

Leading Article The OSCE

The evaluation procedure termed the Objective Structured Clinical Examination (OSCE) was first described in the mid seventies 1 and has been increasingly recommended by medical educationists ever since, as an objective method of assessing clinical competence. From year 2000 the Post Graduate Institute of Medicine in Colombo introduced the Objective Structured Clinical Examination for the MD (Paediatrics) entry point examination, as a method of selecting trainees into the programme leading to Board Certification as paediatricians. Accepted as an educational advance this type of clinical assessment has been incorporated into the undergraduate courses of most medical schools in Sri Lanka. What is the rationale behind this form of evaluation and what challenges do examiners and candidates face in this process? Clinical examinations The traditional clinical examination of `long ' and `short ' cases has been viewed with concern at both undergraduate and postgraduate levels. There are three variables in any clinical examination. The candidate, the patient and the examiner. For the examination results to be reliable, this variability should be confined to the candidates who are being assessed, while the other two factors remain constant, without variation. In addition, the examination should be able to objectively assess the different components of clinical competence such as history taking, observation skills, eliciting of physical signs, identification of problems, decision making in management issues, technical skills at diagnostic tests, ability to interpret laboratory and radiological investigations, communication skills, patient-doctor and staff relationships, interpersonal skills, and attitude to patients and clinical situations etc, separately and objectively. Finally it should be possible to utilise the results obtained to fulfil the desired purpose of the examination; i.e. for identifying areas of deficiency i

Presidential Address* Today’s environment: Tomorrow’s children

have over the years contributed enormously towards improving infant and child survival rates of Sri Lanka. Today it is said that children are healthier than they have ever been before. However, the disease spectrum confronting children is changing rapidly. It is to this emerging situation that I wish to draw your attention. Having stepped into the 21 st century we find that the disease entities facing us are changing. It is public knowledge that asthma and cancers in children are on the rise. Literature documents a worldwide increasing incidence of bronchial asthma, autism, attention deficit hyperactivity disorder, developmental disorders, allergies, congenital abnormalities and malignancies, especially leukaemia and brain cancers 1,2. The present day paediatricians encounter these conditions almost daily. On closer scrutiny these conditions are mostly chronic illnesses of multifactorial origin. Having already combated acute infections of childhood, developed nations find themselves facing threats from new environmental hazards 3. If this trend is left unabated these disorders may soon mask the successes achieved in paediatrics and child care 4. Many of these disorders remain without an exact aetiology. Genetic factors account for 10 to 20%. In the remainder environmental factors are strongly suspect. We may not know with any great certainty the exact causative factor or have a clear understanding of pathogenesis but we know enough to worry about their environmental link and outcome. It is therefore up to us to safeguard our children, an

Persistent lingual ulceration (Riga-Fede disease) in an infant with Down syndrome and natal teeth: a case report

INTRODUCTION: Riga-Fede disease is a rare pediatric condition in which chronic lingual ulceration results from repetitive trauma. Neonatal teeth or underlying neuro-developmental disorders which include Down syndrome are described as causative factors, but to the best of our knowledge, this is the first case report of both Down syndrome and natal teeth coexisting. The need for early extraction in the presence of two risk factors is highlighted in this case report. CASE PRESENTATION: An 18-month-old Sinhalese male presented with an ulcerating lingual mass on the ventral surface of the tongue. The lesion had progressed over the past six months. He also had clinically diagnosed Down syndrome. The ulcer was non-tender, indurated, and had elevated margins. It was not bleeding and two natal teeth in lower central dentition were seen in apposition with the lesion. There was no regional lymphadenopathy but the ulcer was causing concerns as it mimicked a malignant lesion. A clinical diagnosis of Riga-Fede disease caused by raking movements of the tongue against anterior natal teeth by a child who was developmentally delayed and prone to suck on his tongue was made. The mother was reassured and the natal teeth were extracted. CONCLUSIONS: Early extraction of natal teeth is recommended only if there is a risk of aspiration or interference with breast feeding. Although Down syndrome is among the neuro-developmental conditions that lead to this lesion, its occurrence is usually at an older age. The presence of natal teeth together with Down syndrome caused the lesion to occur in infancy. Awareness of the benign nature of this rare condition by pediatricians and dental practitioners is important as it will allay anxiety and avoid unnecessary biopsy. This case also highlights the impact of two risk factors and needs consideration as an added indication for the early extraction of natal teeth

Picture Story Short thorax and disproportionate dwarf ism due to Kniest dysplasia

A breastfed male infant aged six weeks presented with constipation and weight loss. He was the third born to a 33 year old mother in a non-consanguineous marriage. Both siblings were normal. Abnormalities observed were: short length (crown-toheel 46cm), disproportionate body proportions, short barrel shaped chest (Figure 1), a relatively large head, kyphoscoliosis, enlarged knees and elbows with limited range of active and passive movements, bilateral inguinal herniae, flat facies, prominent eyes and a wide posterior cleft palate. Cardiovascular, respiratory, abdominal and neurological examinations were normal. X rays showed vertebral clefts in thoracic spine (Figures 2 & 3), flared metaphyses and large epiphyses in femur and tibia (Figure 4). Expressed breast milk fed using a long teat corrected weight loss and constipation. Cleft palate repair was planned for nine months of age. Herniotomy was performed. On follow up at four months he had satisfactory weight gain and normal development

A case of near-drowning: are safety standards in sports adequate?

Childhood is the ideal time for encouragement of sports because physical activity levels and patterns, once established, last into adult life 1,2. Injuries will occur but are often minor and do not warrant hospita