Developing standards for chromosomal microarray testing counselling in paediatrics.

UNLABELLED: Chromosomal microarray testing (CMA) generally aids paediatric genetic diagnosis. However, pre-CMA counselling is important as results can be ambiguous, generate uncertainty and raise ethical issues. We developed standards for counselling and giving families results; using these we evaluated practice for children seen by the Auckland Developmental Paediatric team in 2011. Pretest discussion was documented in 14 of 28 subjects and potential outcomes in 4of 28. 8 of 28 received information leaflets, 1 of 28 gave signed consent. 3 of 3 with abnormal results and 4 of 5 with variants of unknown significance (VOUS) were offered clinical genetics referral. 8 of 20 families with normal results were written to; two with abnormal results were informed face-to-face and one in writing; most VOUS were communicated by phone, voicemail or letter. CONCLUSION: CMA testing requires clear patient information sheets and in-depth pretest discussion for informed consent, timely feedback of results and genetics referral as appropriate. Authoritative guidelines and training are needed to strengthen CMA counselling.

Prevalence and determinants of cytomegalovirus infection in pre-school children.

AIM: The aim of this study is to measure the seroprevalence of cytomegalovirus (CMV) infection in 3.5-year-old children, and identify the determinants of seropositivity. METHODS: A total of 1714 children were enrolled at birth. Approximately half were small for gestational age and half were appropriate for gestational age. Information on the children was collected at birth, 1 year and 3.5 years. At 3.5 years blood was collected and tested for CMV-specific immunoglobulin by an enzyme-linked immunosorbent assay in 530 children. RESULTS: The weighted seroprevalence of CMV was 32.8% (95% confidence interval (CI) 27.4-38.1%). The seroprevalence of CMV varied markedly by ethnicity (European: 26.5% (95% CI 20.9-32.2%); Maori: 68.0% (44.0-92.0%); Pacific: 74.5% (56.3-92.6%); Indian: 50.0% (20.2-79.8%); Chinese: 47.2% (10.8-83.5%); Other: 21.9% (0.0-52.7%); P < 0.001). Socio-economic factors, number of siblings, day care centres attendance, maternal smoking, breastfeeding and other factors examined were not related to CMV seropositivity. CONCLUSIONS: The seroprevalence of CMV in New Zealand pre-school children is similar to that reported from other developed countries. The finding of marked ethnic differences is unexplained by socio-economic factors, or other factors that were examined.

Determinants of cognitive ability at 7 years: a longitudinal case-control study of children born small-for-gestational age at term.

The aim of this study was to identify the determinants of children's intelligence at 7 years, including pregnancy, postnatal, demographic factors, and small-for-gestational age (SGA) birth at term. Information was collected at birth (n = 871), 1 year (n = 744), 3.5 years (n = 550), and 7 years (n = 591). Approximately half of the children in this study were born SGA (birthweight

Children with physical disability: gaps in service provision, problems joining in.

AIM: To describe the reported experiences of the estimated 14 500 New Zealand children with a physical disability and those of their families and whanau (extended families). METHOD: We have used data from the Household Disability Survey conducted in 2002 to obtain this information. RESULTS: These children and their carers reported a number of perceived unmet needs in all areas covered in the survey: service and assistance, transport, accommodation and education. Thus an estimated 24% reported an unmet need for equipment, and 10% an unmet need for home modification. Around 9% reported having to fund respite care themselves. Of particular note was the proportion of children who had difficulties joining in games and sport at school (59%), going on school outings or camps (28%), playing at school (47%), and or making friends (35%). In all, an estimated 67% of children had one or more problems taking part at school. CONCLUSION: More could be done to help such families and to facilitate the full participation of these children.

Estimating the number of New Zealand children with a physical disability.

AIMS: To estimate the number of New Zealand children who have a physical disability, and to describe this group in relation to sex, age, ethnic group and severity. METHODS: We used data collected by Statistics New Zealand's Household Disability Survey 2001. Within the estimated 90 000 children aged 0-14 years with a disability as described in Disability Counts 2001, we identified a subgroup using information on the use of equipment suggestive of mobility disability, the numbers estimated to be in receipt of or in need of physiotherapy and/or occupational therapy, and the small number needing ramps or similar modifications. RESULTS: An estimated 14 500 children had a physical disability. This equates to an estimated 1.7% of the New Zealand population of children aged 0-14 years. Fifty-seven per cent were boys. An estimated 9600 were New Zealand-European, 3800 Maori and 600 Samoan. Approximately half were of moderate severity as defined by Statistics New Zealand. An estimated 9500 had a multiple disability. CONCLUSIONS: The rate is somewhat higher than in studies from countries where only locomotor disability is described, but similar to rates where other types of disability such as dexterity disability are included. This may reflect the fact that within our group are children who in other countries would have been described as having a dexterity or a self-help disability. It would be useful if future New Zealand data collection could attempt to separate these subgroups in order to allow better forward planning of health, education and family support services.

Short sleep duration in middle childhood: risk factors and consequences.

STUDY OBJECTIVES: To measure sleep duration in 7-year-old children; identify the determinants of sleep duration; and assess the association between short sleep duration and obesity, cognitive functioning, and behaviour. DESIGN: Longitudinal study with disproportionate sampling of the participants. SETTING: Community. PARTICIPANTS: 591 seven-year-old children, of whom 519 had complete sleep data. INTERVENTIONS: Not applicable. MEASUREMENTS: Sleep duration was assessed by actigraphy. Other measurements included height, weight, BMI, percentage body fat as assessed by bioimpedance assay, intelligence (WISC-III) and behaviour (Strengths & Difficulties questionnaire, parent and teachers Conners Rating Scales). RESULTS: Mean time in bed according to parental report was 10.9 hours (SD 0.8). Mean sleep duration by actigraphy was 10.1 (SD 0.8) hours. In multivariable analysis, sleep duration was longer on weekdays vs. weekend nights (31.5 min, P = 0.002), in winter (40.5 min), autumn (31.1 min), and spring (14.8 min) compared with summer (P <0.0001), and in those with younger siblings (11.7 min, P = 0.03). Sleep duration was shorter when bedtime was after 21:00 (-41.1 min, P <0.0001). In multivariable analysis, sleep duration <9 hours was associated with being overweight/ obese (BMI: OR = 3.32; 95% CI = 1.40, 7.87) with an increase of 3.34% body fat (P = 0.03), and this was not explained by physical activity or television watching. Short sleep duration was also associated with higher emotional lability scores (Conners Rating Scale Parent Form; P = 0.03). IQ (WISC-III) and attention deficit / hyperactivity disorder scores (both parent and teachers Conners Rating Scales) did not differ with sleep duration. CONCLUSIONS: Sleep duration in 7-year-old children varies considerably among individuals. The duration is affected by weekday, season, and having younger siblings. Importantly, short sleep duration was shown to be an independent risk factor for obesity/overweight.

Risk factors for obesity in 7-year-old European children: the Auckland Birthweight Collaborative Study.

OBJECTIVE: To identify risk factors associated with obesity in primary school children, with a particular focus on those which can be modified. To identify critical periods and growth patterns in the development of childhood obesity. METHODS: 871 New Zealand European children were enrolled in a longitudinal study at birth and data were collected at birth, 1, 3.5 and 7 years of age. Data collected at 7 years included weight, height, bioelectrical impedance analysis (BIA), television viewing time and a 24 h body movement record (actigraphy). The outcome measure was percentage body fat (PBF), which was calculated at 3.5 and 7 years using BIA. Univariate and multiple regression analyses were carried out using PBF as a continuous variable. RESULTS: Multivariable analysis found maternal overweight/obesity, maternal age, female gender, sedentary activity time and hours of television viewing to be independently associated with PBF at 7 years. Growth variables (birth weight, rapid weight gain in infancy, early (1-3.5 years) and middle childhood (3.5-7 years)) were also independently associated with adiposity at 7 years. There was a strong correlation between PBF at 3.5 years and PBF at 7 years. CONCLUSIONS: Many primary school aged children start on the trajectory of obesity in the preschool years, which suggests interventions need to start early. Maternal overweight/obesity, television watching, sedentary activity time and rapid weight gain in infancy, early and middle childhood are risk factors for childhood obesity, and are all potentially modifiable.

Determinants of developmental delay in infants aged 12 months.

The aim of this study was to determine which demographic, maternal, obstetric and postnatal variables were associated with achievement of developmental milestones at the age of 12 months in term infants. Mothers and babies were enrolled in the Auckland Birthweight Collaborative Study shortly after birth. All infants were full term (gestation >or= 37 weeks). Approximately half of the sample were small for gestational age (SGA = birthweight 10th percentile). A maternal interview was conducted soon after birth. Phase 2 of the study occurred 12 months later when mothers were sent a postal questionnaire requesting information about the child's health and development during the first year of life using the Denver Prescreening Developmental Questionnaire. Seven hundred and forty-four (85.4%) European mothers returned the postal questionnaire. SGA children were not at increased risk of developmental delay at 12 months of age. In a sample representative of New Zealand European children, after adjustment for the effects of potential confounders, maternal smoking during pregnancy (OR = 2.1 [95% CI 1.1, 4.0]), maternal smoking during the first year of life (OR = 1.9 [95% CI 1.0, 3.8]) and low levels of satisfaction with parenting (OR = 2.4 [95% CI 1.1, 5.2]) were associated with significantly increased risk of developmental delay. In the subgroup of SGA children, maternal smoking during pregnancy (OR = 2.9 [95% CI 1.4, 6.2]), high levels of stress associated with parenting (OR = 2.2 [95% CI 1.2, 4.0]), and low levels of satisfaction with parenting (OR = 4.3 [95% CI 1.3, 13.5]) were significantly associated with developmental delay after adjustment for the effects of potential confounders. In conclusion, maternal and postnatal factors were better predictors of developmental delay than demographic variables.

Dietary patterns of New Zealand European preschool children.

AIMS: To record and describe the dietary patterns of a large group of New Zealand (NZ) European preschool children and to compare these with NZ Ministry of Health (MOH) food and nutrition guidelines. METHODS: Mothers were interviewed when children enrolled in the Auckland Birthweight Collaborative (ABC) study were seen at 3.5 years of age. Approximately half of the children in the study were born small for gestational age (SGA =10th percentile) and the remaining were born appropriate for gestational age (AGA >10th percentile). Food frequency information was collected on 549 New Zealand European children. The analysis utilised weighting to allow for the disproportionate sampling of children born SGA. RESULTS: Compared with nutritional guidelines, 27% and 54% of preschool children did not eat the recommended two or more servings of fruit per day or two or more servings of vegetables per day, respectively; 93% of children did not eat breads and cereals the recommended four or more times a day. CONCLUSION: A notable proportion of children were not eating fruit and vegetables at levels recommended by the MOH. Preschool children's food frequency patterns were, however, similar to patterns reported for school-aged children in the National Children's Nutrition Survey.