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Development and disability

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N. I. Horwitz1, J. Ellis2.2Institute of Child Health, London, UK; 1Great Ormond Street Hospital, London, UK

Background: The most common presentation of Down syndrome is the previously undiagnosed baby on the postnatal ward. Breaking bad news of the diagnosis is an important and difficult skill. Training in breaking bad news can improve confidence in this task.

Aims: To ascertain the level of support and training available to paediatric specialist registrars (SpRs) in breaking bad news and their attitudes to this task.

Study Design: A questionnaire based survey with a nested randomised controlled trial.

Participants: Paediatric SpRs working in North Thames Region.

Methods: SpRs eligible for inclusion into the study (n = 206) were sent a questionnaire with questions relating to the level of support and training available to them in breaking bad news and their attitudes to this task. They were randomised to receive either a postal questionnaire (group A; n = 97) or an email questionnaire (group B; n = 109). All participants were sent a follow up questionnaire by the same method 2 weeks later.

Results: The study sample included 78 females and 34 males. The median year of qualification was 1995 (IQR 1993–1997) and the median year of Calman training was Year 3 (IQR 2–4). Responses to the survey questions revealed that 15.9% of participants had guidelines where they worked. Over 90% had received training in breaking bad news. Median self-perceived confidence in breaking bad news was rated as 4 out of 5. Most of the participants (88.1%) who had disclosed a diagnosis of Down syndrome had felt able to ask for support from a senior colleague. Evidence based recommendations for breaking bad news were followed 71.3% of the time. The overall response rate was 55.5%. The response rate in group A was 64.9% compared with the response rate in group B of 45.9%. This difference in response rates was significant: RR 1.42, CI 1.12 to1.80. Email questionnaires were faster to administer than postal (1.65 minutes v 6.5 minutes), had quicker minimum response times (1 hour v 6 days) and were cheaper to produce (£0.02 v £1.64).

Conclusions: The majority of North Thames paediatric SpRs have received training in breaking bad news. They often follow evidence based recommendations and feel confident when disclosing a diagnosis of Down syndrome. The postal method offers a better response rate but the email method is faster and cheaper to administer.


A. M. Weindling1, S. Glenn2, C. Cunningham2, R. Edwards3.1School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool, UK; 2School of Health and Applied Social Sciences, Liverpool John Moores University, Liverpool, UK; 3Centre for Economics of Health, University of Wales, Bangor, UK

Aim: The purpose was to determine (1) the level of contact that children with cerebral palsy have with health service providers, (2) factors that determine the distribution of services; and (3) the effect of receiving these services on the children and their families.

Method: This study formed part of a randomised controlled trial to assess the effectiveness of extra intervention for 85 children with spastic cerebral palsy. The parents of 74 children kept diaries of contacts with professional from a range of services over the 6 month period of the intervention. Two measures of services were computed: the amount of physical therapy (excluding the intervention) and additional services (excluding physical therapy). Family measures were family support, the coping ability of the family, the home environment, and parental stress. The child’s motor impairment was measured by the Gross Motor Function Measure and a normative measure from the Griffiths Developmental Scales.

Results: Mean age: 18 months. The pattern of disability was: hemiplegia (n = 33), diplegia (n = 18), or quadriplegia (n = 34). Each child had 32–36 physical therapy sessions, 9–10 occupational therapy sessions, 5–6 portage sessions, 3–5 speech therapy sessions, 2–4 visits to the GP’s surgery, and 2 visits by the community nurse. A common model was constructed by multivariate analysis of service variables (for p<0.05). The following table shows percentage variance (in the service variable) explained by each independent variable after controlling for all other independent variables.

Conclusion: Differing numbers of services were associated type of spastic cerebral palsy, home environment, family support, and coping. There was no association with the measure of family stress.


L. Marston1, J. L. Peacock1, S. A. Calvert2, N. Marlow3, A. Greenough4.1Brunel University, London, UK; 2St George’s Hospital Medical School, London, UK; 3University of Nottingham, Nottingham, UK; 4King’s College Hospital Medical School, London, UK

Background: Evidence has shown that children born preterm lag behind term born children in many developmental domains, including language. There are many potential medical, social, and environmental factors that might account for these differences but there is limited understanding as to their relative roles. The UK Oscillation Study (UKOS) included births between 23 and 28 weeks gestation so affords the opportunity to investigate this.

Objectives: To investigate factors associated with vocabulary acquisition at age 2 in ex-preterm children using a standardised test.

Methods: Vocabulary was assessed by the parents using MacArthur Communicative Development Inventories: UK short form. Children were included in this study if parents filled out questionnaires when their children were aged 22–28 months corrected for prematurity, this providing a reasonable window around the target age of 24 months. Relationships were examined between vocabulary at age two and 29 explanatory factors obtained at birth and up to 2 years.

Results: Information was available for 288 eligible children (148 males). Mean (SD) number of words vocalised was 42 (29). Demographic, postnatal, and growth factors all showed some association with vocabulary acquisition. In particular, there was a substantial sex difference, with females faring better than males (mean (SD) 51 (30) v 33 (25) p<0.0001). Major cranial ultrasound scan abnormality was associated with reduced mean vocabulary (mean (SD) 29 (30) v 44 (28) p 0.003). Length of time spent in hospital following birth was negatively associated with acquired vocabulary (p<0.0001). Standardised growth parameters were positively associated with vocabulary acquisition. Social factors were not significantly related to vocabulary acquisition. After adjustment using multifactorial analysis, only sex, hospital stay, and standardised weight remained significant predictors.

Conclusion: Vocabulary at age 2 in children who were born extremely prematurely is primarily affected by neonatal and infant medical factors. Social factors appear to play a lesser role.


A. T. Salt1, A. M. Wade1, R. V. Profitt2, S. J. Heavens2, P. M. Sonksen1.1Institute of Child Health, London, UK; 2Lifespan Healthcare NHS Trust, Cambridge, UK

Introduction: Acuity for linear optotype displays changes rapidly between 2.5 and 8 years; thus normative values are essential for interpretation of measures of acuity in this age range. logMAR is now the internationally accepted scale for measurement of visual acuity. A test designed in strict accord with logMAR standard specifications and developmentally appropriate for very young children is required for monitoring clinical and treatment changes during childhood and beyond.

Test Design: Informed by standard specifications and developmental research.

Study Design: Population based sample; data: cross sectional.

Statistics: Compliance: descriptive; norms: asymmetric logistic models for age related changes in the cumulative proportions achieving each acuity level or better; maximum likelihood to estimate model parameters.

Methods: 2991, 1500 boys and 1491 girls, aged 24–104 months from a total population of 4671 were tested. Ability to comply with developmental demands (letter matching/acceptance of occlusion) and achieve binocular (Bin) and monocular (Mon) distant acuity measures and acuity were recorded.

Results: Compliance was over 99% for all aspects of the test in children age 4 years and over. In 2–3 and 3–4 year olds, of those who could letter match, 86% and 98% achieved binocular measures and 26% and 6% refused occlusion. Of those who accepted occlusion, 86% and 97% achieved monocular measures. The centile charts below show a rapid rate of increase of Bin and Mon acuity from 3 to 5 years and slower thereafter. At all ages Mon acuity is lower than Bin. From 4 years 3 months Bin acuity is better than logMAR 0.000 in over 50% rising to 90% by 7 years.

Conclusions: The compliance data confirm that the new test is developmentally appropriate for the age group. The centile charts clearly illustrate that age norms are imperative for clinically valid interpretation of measures, for referral criteria in surveillance programmes and for monitoring change over time in young children.


C. A. Salmon1, J. Ellis2, A. Wade2.1Royal Surrey County Hospital, Guildford, UK; 2Institute of Child Health, London, UK

Introduction: Down syndrome affects approximately 1 in 1000 people in the UK, and is associated with many health problems, including an increased risk of hypothyroidism. Current recommendations are for regular thyroid function screening in these individuals; however, the significance of borderline results and positive anti-thyroid antibodies is not clear.

Aim: To examine the thyroid function results of children with Down syndrome in two districts in the UK.

Methods: Two cohorts of children with Down syndrome (aged 0–18 years) were identified using well maintained local special needs registers. Deceased children were also included. Basic demographic information and the results of thyroid function tests were obtained from community and hospital notes, and laboratory records.

Results: 135 children with Down syndrome were identified. 78% of the live children (98/126) were up to date with their thyroid screening. 7% of all children (10/135) had been started on thyroxine as treatment for hypothyroidism. 30% of all children not on thyroxine who had been tested (37/120) had had a borderline thyroid stimulating hormone result (TSH 5–11 mU/l) on at least one occasion in the post neonatal period. Of these, 51% (19/37) had normal thyroid function at their most recent test, and a further 30% (11/37) had not yet had a repeat test. 15% (18/120) had a borderline result at their last test. 72% of live children (91/126) had had their thyroid antibodies checked at least once. Thyroid peroxidase antibody was measured in 56 children; 13 had at least one positive test, but in only four cases did these remain positive at the last testing (two on thyroxine, one compensated hypothyroidism, and one normal thyroid function).

Conclusions: This study raises several key issues: a lack of consistency regarding when a child with Down syndrome was commenced on thyroxine; in children with borderline TSH results, over 50% reverted to normal on future testing; the significance of positive thyroid peroxidase antibodies in children with Down syndrome has to be questioned.


S. C. Puri, K. Murphy.St James’s University Hospital, Leeds, UK

Aim: To determine the frequency of gastrointestinal symptoms in particular malabsorption in metachromatic leukodystrophy (MLD). Loss of muscle function, epilepsy, and bulbar symptoms are a part of the natural history. Malabsorption and significant gastrointestinal symptoms have not been described in the literature.

Method: Retrospective notes review of children admitted with a confirmed diagnosis of MLD.

Results: We identified 11 children over a period of 17 years (1987–2004) with a confirmed diagnosis of MLD. Seven out of 11 (63%) children had significant symptoms of vomiting not responding to anti-reflux treatment and six had persistent diarrhoea maintained on clear fluids for prolonged periods.

Conclusions: Gastrointestinal symptoms in children with neurodegenerative conditions are usually attributed to gastroesophageal reflux. Symptomatic gall bladder polyps have been described in MLD; none of the children studied had documented evidence suggestive of gall bladder dysfunction. In our experience in metachromatic leukodystrophy, children did not respond to conventional treatment and showed symptoms of malabsorption requiring clear fluids for prolonged periods. Further research is needed to determine the pathogenesis of malabsorption and vomiting.


H. F. Ayyash1, R. Morton2, H. Alfanek3, PhPreece4.1Doncaster Royal Infirmary And MMedSci, University of Leeds, Doncaster, Leeds, UK; 2Derbyshire Childrens Hospital, Derby, UK; 3PCT Health Care, Chesterfield, UK; 4Chesterfield and North Derbyshire Royal Hospital, Chesterfield, UK

Aim: To study the effectiveness of melatonin in children with neurodevelopmental problems and sleep disturbance.

Methods: Forty seven children aged 1–16 years were recruited. Only 45 children were enrolled in the study (29 with learning difficulties, nine with autism, and seven with ADHD). Thirty five were boys and 10 were girls. Three objective outcome measures were studied: total sleep time, time to sleep onset, and number of awakenings at night. A paired t test was carried out separately on each of the three differences in outcomes. Mean differences between groups were compared by a one way analysis of variance (ANOVA).

Results: After treatment the children were sleeping for significantly longer, a mean increase of 1.9 hours per night (95% CI 1.50 to 2.4; p 0.001) compared with before treatment. Also, the time to sleep onset following treatment was significantly shorter, a mean reduction of −1.25 hours per night (95% CI −1.6 to −0.9; p 0.001) compared with before treatment. Finally, the number of awakening per night following treatment was significantly reduced, a mean reduction of −0.40 awakening per night (95% CI −0.52 to −0.24; p 0.001) compared with before treatment.

Conclusions: Melatonin oral intake resulted in significant improvement in total sleep time and reduction in time to sleep onset and number of awakenings.


S. Puri2, J. Broderick1, V. Parmar1, E. Tizzard1.1School of Medicine, University of Leeds, Leeds, UK; 2Leeds Teaching Hospitals, Leeds, UK

Aims: The aims of our study were to determine: the efficacy of melatonin treatment for sleeping difficulties, duration of treatment, any adverse effects, impact on quality of life, and to audit the information provided to families regarding melatonin as it is an unlicensed medication in the UK.

Methods: The hospital pharmacists identified 81 children who were currently prescribed melatonin. Questionnaires were posted to each child’s carer(s). The questionnaires were analysed separately from the information obtained from the medical records.

Results: 72 (88.8%) notes and 49 completed questionnaires (64.6%) were analysed. Three carers reported non-specific negative behavioural changes. One carer commented melatonin was “the best thing since sliced bread”. See table.

Conclusions: Carer’s found melatonin to be effective in increasing sleep duration without any significant side effects reported. This had a positive impact on the quality of family life. Further research is needed to confirm the safety of melatonin, to enable it to become a licensed medication and increase the appropriate use and ease of prescribing melatonin.


Z. Bassi, P. Grimward, G. Ciotti, M. Pozzi, A. M. Dalzell.Royal Liverpool Childrens Hospital, Alder Hey, Liverpool, UK

Introduction: Children with cyanotic and clinically relevant non-cyanotic heart disease require 120–150% of the dietary reference value for energy. These children often have associated feeding dysfunction and this against the background of congestive cardiac failure, food intolerance, and secondary enteropathy may make meeting this increased demand difficult. The resulting malnutrition affects general wellbeing and also contributes to long term cardiac morbidity and mortality. We present our experience of a patient cohort referred to a multidisciplinary (gastroenterologist, cardiologist, speech therapist, and dietician) cardiac feeding disorders team at a tertiary centre.

Methods: Information was recorded on all new referrals under the age of 18 months to the feeding team over 6 months (June 2004 to November 2004). Underlying diagnosis and anthropometrics were recorded. The children had assessment of dietary intake (3 day diet diary), feeding difficulties (using a modified version of a previously published questionnaire), and neurodevelopment status (Griffith neurodevelopment scales).

Results: Twenty five children have been assessed (Mean age (SD) 2.8 (2.4) months, Males 11). The mean z scores (SD) for weight and height were −1.842 (0.9) and −1.679 (1.1), respectively. Ten patients had cyanotic heart disease and the commonest underlying diagnosis was transposition of great vessels. Fifteen patients had non-cyanotic heart disease and the commonest cause was ventricular septal defect. Twelve children had no interventional surgery or procedures at recruitment. The routes of feeding were oral (3), oral and nasogastric (13), gastrostomy (2), and nasogastric (7). The feeding questionnaire revealed that frequent vomiting was perceived to be a major problem by 80% of carers, 32% felt that the children did not enjoy food, and 60% felt that the children did not feed because they got tired/breathless. 18 (72%) of the carers had major concerns about their child’s feeding and growth. On neurodevelopment assessment the mean GQ (general quotient) was 84.95, cyanotic v acyanotic being 83.1 v 85.92 (p = ns). Following assessment by the feeding team 70% of the children were put on calorie dense feeds and a gastrostomy was planned for all the children who required supplemental tube feeds (n = 18).

Conclusion: Feeding difficulties are prevalent in children with complex cardiac disorders. Neurodevelopmental delay is seen in these children. This may be related directly to undernutrition and also to the delay in weight dependant corrective cardiac surgery. By having a dedicated multidisciplinary feeding team we are able to provide holistic approach in management of these patients. Gastrostomy is the preferred route for maintaining nutrition in children needing enteral feeding.


M. Smith1, A. Hufton2.1Queen’s Medical Centre, Nottingham, UK; 2NorthWest Regional Physics Service, Manchester, UK

Aim: To describe the amount of exposure of children with severe learning disabilities (SLD) to medical ionising radiation through diagnostic examinations, quantifying exposure, and cancer risk.

Methods: A retrospective review of records of all patients admitted to an inpatient unit for children with SLD over a 1 year period. Details of attendances at other hospitals were sought in clinical notes and then for each institution details of diagnostic radiation exposures were recorded from clinical notes and x ray department records. Where technical information was available, radiation dose was calculate using Child Dose (NRPB SR279) and CT dose. In the absence of technical data estimates of dose were taken from published data. Cancer risk was calculated from published NRPB estimates.

Results: 51 children were admitted during the study period. One patient was excluded. The mean number of total x ray examinations was 26.8 (range 3–134), or 4.1 (range 0.35–17.5) per year. The mean estimated total dose was 27.85 mSv (range 0.4–182.20). Mean dose per year was 4.01 mSV (0.07–22.02). The estimated lifetime risk or a fatal radiation induced cancer at the age of 20 if current rate of exposure continues was a mean of 3.008×10−3 (range 20.3–7779.933×10−3).

Conclusions: Some children with SLD receive a high exposure to ionising radiation through diagnostic examinations. As their care is coordinated in the community and they attend multiple institutions, no single physician has oversight of the total exposure received. The high level of exposure may lead to a significantly increased risk of cancer, which is clinically significant as life expectancy increases. Exposure may be reduced by training of junior doctors, coordination between different institutions involved in care, and improved radiological techniques.

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