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1.
Orphanet J Rare Dis ; 19(1): 192, 2024 May 10.
Article in English | MEDLINE | ID: mdl-38730494

ABSTRACT

BACKGROUND: In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4-5 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timely access to treatment, opportunities for reproductive options, prevention of potential fatal reactions to inhaled anesthetics, awareness of a child's abilities needed for good parenting, and opportunities for enrolment in clinical trials. METHOD: We aimed to develop a short risk assessment tool based on developmental milestones that may contribute to the early detection of boys with DMD in primary care. As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with DMD), data on developmental milestones, symptoms and therapies for 76 boys with DMD and 12,414 boys from a control group were extracted from the health records of youth health care services and questionnaires. Multiple imputation, diagnostic validity and pooled backward logistic regression analyses with DMD (yes/no) as the dependent variable and attainment of 26 milestones until 36 months of age (yes/no) as the independent variable were performed. Descriptive statistics on symptoms and therapies were provided. RESULTS: A tool with seven milestones assessed at specific ages between 12 and 36 months resulted in a sensitivity of 79% (95CI:67-88%), a specificity of 95.8% (95%CI:95.3-96.2), and a positive predictive value of 1:268 boys. Boys with DMD often had symptoms (e.g. 43% had calf muscle pseudohypertrophy) and were referred to therapy (e.g. 59% for physical therapy) before diagnosis. DISCUSSION: This tool followed by the examination of other DMD-related symptoms could be used by youth health care professionals during day-to-day health assessments in the general population to flag children who require further action. CONCLUSIONS: The majority of boys (79%) with DMD can be identified between 12 and 36 months of age with this tool. It increases the initial a priori risk of DMD from 1 in 5,000 to approximately 1 in 268 boys. We expect that other neuromuscular disorders and disabilities can also be found with this tool.


Subject(s)
Muscular Dystrophy, Duchenne , Primary Health Care , Muscular Dystrophy, Duchenne/diagnosis , Humans , Male , Child, Preschool , Risk Assessment , Infant , Case-Control Studies
2.
Dev Med Child Neurol ; 62(10): 1198-1204, 2020 10.
Article in English | MEDLINE | ID: mdl-32692451

ABSTRACT

AIM: To investigate the differences in attainment of developmental milestones between young males with Duchenne muscular dystrophy (DMD) and young males from the general population. METHOD: As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with Duchenne Muscular Dystrophy), data on developmental milestones for 76 young males with DMD and 12 414 young males from a control group were extracted from the health care records of youth health care services. The characteristics of DMD were acquired from questionnaires completed by parents. Logistic regression analyses were performed with milestone attainment (yes/no) as the dependent variable and DMD (yes/no) as the independent variable, with and without adjustment for age at visit. RESULTS: The mean number of available milestones was 43 (standard deviation [SD]=13, range: 1-59) in the DMD group and 40 (SD=15, range: 1-60) in the control group. The presence of developmental delay was evident at 2 to 3 months of age, with a higher proportion of young males with DMD failing to attain milestones of gross/fine motor activity, adaptive behaviour, personal/social behaviour, and communication (range age-adjusted odds ratios [ORs]=2.3-4.0, p<0.01). Between 12 and 36 months of age, differences in the attainment of developmental milestones concerning gross motor activity increased with age (range age-adjusted ORs=10.3-532, p<0.001). We also found differences in developmental milestones concerning fine motor activity, adaptive behaviour, personal/social behaviour, and communication between 12 and 48 months of age (range age-adjusted ORs=2.5-9.7, p<0.01). INTERPRETATION: We found delays in the attainment of motor and non-motor milestones in young males with DMD compared to the control group. Such delays were already evident a few months after birth. Developmental milestones that show a delay in attainment have the potential to aid the earlier diagnosis of DMD.


Subject(s)
Child Development/physiology , Motor Activity/physiology , Muscular Dystrophy, Duchenne/physiopathology , Case-Control Studies , Child, Preschool , Humans , Infant , Male
4.
Ned Tijdschr Geneeskd ; 1622018 May 29.
Article in Dutch | MEDLINE | ID: mdl-30040274

ABSTRACT

OBJECTIVE: To investigate how general practitioners and preventive youth health physicians experience their collaboration and to analyse factors involved. DESIGN: Qualitative research. METHOD: 14 general practitioners and 11 preventive youth health physicians from the Leiden and The Hague areas were interviewed in a semistructured manner. Data were analysed by thematic analysis using the 'Framework method', to identify important themes for collaboration. RESULTS: Contact frequency between general practitioners and preventive youth health physicians varied from biannually to weekly. Important conditions for good collaboration were not met by most participants. General practitioners were not always aware of competencies and tasks of preventive youth health physicians and had little trust in them. They also reported less often than preventive youth health physicians that there were mutual agreements or guidelines. Both parties experienced little support from municipalities or their own organisations. For both, exchange of information mainly took place in case of medical necessity or when the other party requested it. Accessibility of the other party was experienced as inconsistent. Better information exchange was mentioned as the most important point for improvement of collaboration. CONCLUSION: Current collaboration between general practitioners and preventive youth health physicians is suboptimal. There is room for improvement with respect to knowledge of each other's competencies and tasks, trust, information exchange and support from within their own organisations and municipalities. These insights could help to shape and improve interprofessional collaboration in primary care for children, also regarding the youth teams created recently.


Subject(s)
Attitude of Health Personnel , Cooperative Behavior , Delivery of Health Care, Integrated , Family Practice/organization & administration , General Practitioners , Preventive Health Services/organization & administration , Communication , Delivery of Health Care, Integrated/organization & administration , Delivery of Health Care, Integrated/standards , Female , General Practitioners/psychology , Humans , Interprofessional Relations , Male , Qualitative Research , Trust
5.
Eur J Public Health ; 28(6): 1023-1028, 2018 12 01.
Article in English | MEDLINE | ID: mdl-29893809

ABSTRACT

Background: Overweight and obesity rates stabilized or declined in the largest ethnic groups in the Netherlands, while reports on thinness are conflicting. Ethnic inequalities in time trends are unknown. The aim of this study was to examine (differences in) trends in overweight (including obesity), obesity, severe obesity and thinness in children of Dutch, Turkish, Moroccan and South Asian descent. Methods: A retrospective cross-sectional study based on 135 150 height and weight measurements, taken between 2007 and 2015 in 77 058 children, aged 2-15 years, living in the city of The Hague (the Netherlands). Trends were determined with logistic regression. An interaction term was added to the model to test for effects of ethnicity on time trends. Results: In Dutch children, overweight, obesity and severe obesity rates declined between 2007 and 2015, while overweight remained stable in Turkish, Moroccan and South Asian children. Turkish children showed a decrease in obesity (OR 0.981; 95% confidence interval 0.965-0.998), and Moroccan children in severe obesity (OR 0.918; 95% CI 0.877-0.962). South Asian children had the highest overweight and obesity rates of all ethnic groups (32.7 and 21.5% in 2015, respectively). Thinness rates were generally low and only decreased in South Asian children (0.940; 95% CI 0.886-0.997). Conclusions: Ethnic inequalities in overweight and obesity rates widened since 2007, despite a decline in overweight and/or obesity in most ethnic groups. Ethnic specific interventions are highly needed, especially for South Asian children.


Subject(s)
Pediatric Obesity/ethnology , Pediatric Obesity/epidemiology , Adolescent , Anthropometry , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Male , Netherlands/epidemiology , Retrospective Studies
6.
Ann Hum Biol ; 42(1): 38-44, 2015 Jan.
Article in English | MEDLINE | ID: mdl-24963814

ABSTRACT

BACKGROUND: People from Asian populations are generally shorter than other ethnic groups. It is unknown if current universal height references are suitable for affluent South Asian children in the Netherlands. AIMS: To develop height-for-age charts for contemporary South Asian children aged 0-20 years living in the Netherlands, to evaluate secular trends, and to compare the charts with current Asian Indian, Dutch and WHO references. SUBJECTS AND METHODS: A population-based study measured 3315 South Asian children aged 0-20 years between 2007-2010. Among this cohort, 6876 measurements were taken. Another 7388 measurements were taken of a historical cohort of 1078 children born between 1974-1976 (aged 0-18 years). RESULTS: An upward trend in height was observed for South Asian children living in the Netherlands between 1992-2010. The height-for-age charts of the South Asian historical cohort were similar to current Asian Indian charts. South Asian children in the Netherlands were shorter than their Dutch contemporaries at every age; and these differences increased further during adolescence. Compared to the WHO height-for-age references, there were considerable discrepancies in height, with curves intersecting twice. CONCLUSION: The discrepancies between the South Asian and Dutch and WHO height-for-age references indicate differences in growth patterns between the source populations.


Subject(s)
Body Height , Growth Charts , Adolescent , Adult , Asian People , Child , Child, Preschool , Environment , Female , Humans , Infant , Infant, Newborn , Male , Netherlands , Reference Standards , Reference Values , Sex Factors , World Health Organization , Young Adult
7.
PLoS One ; 8(12): e82822, 2013.
Article in English | MEDLINE | ID: mdl-24367559

ABSTRACT

BACKGROUND: Asian populations have an increased risk of developing cardiometabolic disorders at a lower body mass index (BMI) than other ethnic groups. Therefore, lower adult BMI cut-offs to determine overweight and obesity are recommended to assess the associated health risks for Asian (23 and 27.5 kg/m(2) respectively) and Asian Indian (23, 25 kg/m(2)) populations. The objective of this study was to develop BMI cut-offs for thinness, overweight, and obesity for South Asian children in the Netherlands, and to compare the BMI cut-offs and distribution with an Asian Indian reference, the WHO Child Growth Reference, and universal BMI cut-offs. METHODS: A reference cohort of 546 Surinamese South Asian boys and 521 girls, born between 1974-1976 (during the pre-obesity era) with 3408 and 3267 BMI measurements respectively, was retrospectively analysed. BMI-for-age charts were created with the LMS method. BMI centile curves passing through the cut-off points of 15 (thinness), 23 (overweight), 25 and 27.5 kg/m(2) (obesity) at 18y were drawn as cut-off levels. RESULTS: The BMI of Surinamese South Asian children had a similar distribution to the Asian Indian reference, apart from a lower mean and less variation. The BMI distribution differed considerably from the WHO reference and universal BMI criteria. The calculated BMI cut-offs corresponding to a BMI of 15, 23, 25, and 27.5 kg/m(2) at 18y were at the 7.1, 81.1, 89.8, and 95.5 percentile respectively in boys, and at the 2.7, 79.5, 89.2, and 95.2 percentile in girls. CONCLUSIONS: This is the first study proposing BMI cut-offs for South Asian children based on measurements from a prosperous population unaffected by the obesity epidemic. We recommend the use of these cut-offs in South Asian children in the Netherlands as these better reflect the health risks associated with thinness, overweight and obesity, and therefore may prevent the development of cardiometabolic disorders.


Subject(s)
Body Mass Index , Obesity/diagnosis , Overweight/diagnosis , Thinness/diagnosis , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Netherlands , Retrospective Studies
8.
BMC Public Health ; 13: 931, 2013 Oct 07.
Article in English | MEDLINE | ID: mdl-24098977

ABSTRACT

BACKGROUND: South Asian babies born in developed countries are generally lighter than babies from other ethnic groups born in the same country. While the mean birth weight of Caucasian babies in the Netherlands has increased the past decades, it is unknown if the mean birth weight of South Asian babies born in the Netherlands has increased or if the prevalence of low birth weight (LBW) or small-for-gestational-age (SGA) has decreased.The aims of this study are: 1. to investigate secular changes in mean birth weight and the prevalence of LBW and SGA in Surinamese South Asian babies, and 2. to assess differences between Surinamese South Asian and Dutch Caucasian neonates born 2006-2009. METHODS: A population based study for which neonatal characteristics of 2014 Surinamese South Asian babies, born between 1974 and 2009 in the Netherlands, and 3104 Dutch Caucasian babies born 2006-2009 were obtained from well-baby clinic records. LBW was defined as a birth weight <2500 g. SGA was based on a universal population standard (the Netherlands) and three ethnic specific standards (the Netherlands, UK, Canada). RESULTS: In Surinamese South Asian babies from 1974 to 2009 no secular trend in mean birth weight and prevalence of LBW was found, whereas SGA prevalence decreased significantly.Surinamese South Asian babies born in 2006-2009 (2993 g; 95% CI 2959-3029 g) were 450 g lighter than Dutch Caucasian babies (3448 g; 95% CI 3429-3468 g), while LBW and SGA prevalences, based on universal standards, were three times higher. Application of ethnic specific standards from the Netherlands and the UK yielded SGA rates in Surinamese South Asian babies that were similar to Dutch. There were considerable differences between the standards used. CONCLUSION: Since 1974, although the mean birth weight of Surinamese South Asian babies remained unchanged, they gained a healthier weight for their gestational age.


Subject(s)
Birth Weight , Fetal Growth Retardation/epidemiology , Infant, Low Birth Weight , Infant, Small for Gestational Age , Adult , Asian People/ethnology , Cohort Studies , Cross-Sectional Studies , Ethnicity , Female , Fetal Growth Retardation/ethnology , Humans , Infant, Newborn , Male , Netherlands/epidemiology , Prevalence , Suriname/ethnology
9.
J Pediatr ; 154(5): 662-6, 2009 May.
Article in English | MEDLINE | ID: mdl-19167725

ABSTRACT

OBJECTIVE: To assess the short- and long-term effects of 3 simple behavioral interventions to overcome nocturnal enuresis in young children. STUDY DESIGN: We performed a randomized controlled trial in children aged four to five years with mono-symptomatic nocturnal enuresis (n = 570). The children were placed in one of four groups: (1) lifting to urinate and ask for a password; (2) the same as group 1, without a password; (3) using a reward system; or (4) a control group. Each participant was asked to carry out the appointed intervention for 6 months or until 14 consecutive dry nights occurred, which was the continence criterion. A follow-up was performed approximately 3 years after the study. RESULTS: After 6 months, lifting the child to the toilet without the use of a password was the only intervention that resulted in significantly more dry children (37%) than the control group (21%). Three years later, both lifting groups had the highest (78%) and the control group the lowest (69%) percentage of dry children. CONCLUSIONS: The intervention lifting to urinate without the use of a password leads to more dry children compared with no active treatment in children aged 4 to 5 years with nocturnal enuresis.


Subject(s)
Nocturnal Enuresis/therapy , Child, Preschool , Diapers, Infant/adverse effects , Diurnal Enuresis/complications , Female , Humans , Lifting , Male , Parents , Reward , Time Factors , Urination , Wakefulness
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