Prevalence, Neonatal Characteristics, and First-Year Mortality of Down Syndrome: A National Study

doi:10.1016/j.jpeds.2007.09.045

The Journal of Pediatrics

Volume 152, Issue 1, January 2008, Pages 15-19

https://doi.org/10.1016/j.jpeds.2007.09.045 Get rights and content

Objective

To determine the prevalence, neonatal characteristics, and first-year mortality in Down syndrome (DS) among children in the Netherlands.

Study design

The number of DS births registered by the Dutch Paediatric Surveillance Unit (DPSU) in 2003 was compared with total live births (reference population) and perinatal registrations.

Results

The prevalence of DS was 16 per 10,000 live births. Compared with the reference population, the 182 children with trisomy 21 had a gestational age of 38 weeks versus 39.1 weeks (P < .001), a birth weight of 3119 g versus 3525 g in males (P < .001) and 2901 g versus 3389 g in females (P < .001), and mothers with a parity of ≥4.17% versus 5% (P < .001) and a mean age of 33.6 years versus 31 years (P < .001) and 33% (n = 54) ≥36 years). The mean age of DS diagnosis was 10.2 days in nonhospital deliveries and 1.8 days in hospital deliveries (P < .001). Children with DS were less often breast-fed (P < .05), and 86% (n = 156) were hospitalized after birth. Neonatal and infant mortality were higher in DS, 1.65% versus 0.36% (P < .02) and 4% versus 0.48% (P < 0.001), respectively.

Conclusions

The prevalence of DS in the Netherlands exceeds previously reported levels and is influenced by the mother’s age. Neonatal and infant DS mortality have declined, but still exceed those in the reference population.

Section snippets

Methods

The Dutch Pediatric Surveillance Unit (DPSU) is a voluntary national registry that pediatricians use to report various pediatric disorders, including DS. The DPSU is one of 14 such pediatric surveillance units worldwide (www.inopsu.com).

Our study includes all live births in the period between January 1 and December 31, 2003 who were diagnosed with DS and were reported to the DPSU. For each case reported to the DPSU during this period, a questionnaire was sent to the pediatrician in question.

Results

After corrections for double-counting, 220 children with a suspected diagnosis of DS were reported to the DPSU in 2003. A total of 199 (90%) of the 220 questionnaires were returned, some incompletely filled out. In 2003, the response rates were 96% for the DPSU, 95% for the LVR, and 100% from university hospitals and 50% from nonuniversity hospitals for the LNR.⁸

Chromosomal analysis confirmed the diagnosis of DS in 193 cases, which were then used for further analyses. Six other cases were found

Discussion

Antenatal diagnostics and medical care for children with DS, along with their life expectancy, have improved substantially in recent decades.² However, the full implications of these improvements, and of such issues as breast-feeding and hospitalization, are still not fully understood.

The prevalence of DS in the Netherlands in 2003 (16 per 10,000 live births) was much higher than might have been expected based on previous registrations, and higher than suggested in the literature.1, 2, 8

References (25)

N.J. Roizen et al.
Down’s syndrome
Lancet
(2003)
E. Hopman et al.
Eating habits of young children with Down syndrome in the Netherlands: adequate nutrient intakes but delayed introduction of solid food
J Am Diet Assoc
(1998)
H.E. De Walle et al.
Survival rates of children with Down syndrome in the northern Netherlands, 1981-1991
Tijdschr Kindergeneeskd
(1995)
S.M. Day et al.
Mortality and causes of death in persons with Down syndrome in California
Dev Med Child Neurol
(2005)
M.S. Kortenhorst et al.
Complete atrioventricular septal defect in children with Down’s syndrome: good results of surgical correction at younger and younger ages
Ned Tijdschr Geneeskd
(2005)
S. Leonard et al.
Survival of infants born with Down’s syndrome, 1980-1996
Paediatr Perinat Epidemiol
(2000)
C. Frid et al.
Mortality in Down’s syndrome in relation to congenital malformations
J Intellect Disabil Res
(1999)
Statistics Netherlands, Centraal Bureau voor de StatistiekNational Dutch data collection of birth and death certificates of 2003
S. Anthony et al.
TNO Report on Congenital defects in the Netherlands 1996-2003
Annual Report of the Working Group on Prenatal Diagnosis and Therapy
(2003)

E.B. Hook et al.

Capture-recapture methods in epidemiology: methods and limitations

Epidemiol Rev

(1995)

R. Bell et al.

Down’s syndrome: occurrence and outcome in the north of England, 1985-1999

Paediatr Perinat Epidemiol

(2003)

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Citation Excerpt :
Down syndrome is the most common chromosomal abnormality, affecting approximately 1 in 700 live births in the US each year [1]. Down syndrome results in intellectual and developmental delays of varying severity and is associated with a higher incidence of congenital heart defects, which often require surgery within the first year of life [2,3]. Increased rates of otolaryngologic pathologies are found in this patient group, including chronic ear disease, hearing loss, and obstructive sleep apnea [4,5].
Down syndrome is the most common chromosomal abnormality and is associated with a higher incidence of congenital heart defects, which often require surgery within the first year of life. Previous studies have found that children with Down syndrome are at higher risk for subglottic stenosis, vocal fold paralysis, and laryngomalacia. The goal of this study is to review children with Down syndrome presenting with dysphonia and to characterize their laryngeal pathologies.
A retrospective review was performed of patients with Down syndrome seen at a tertiary pediatric hospital's department of otolaryngology from Jan. 2007–Jul. 2021 for voice-related concerns. Inclusion criteria included age less than 18 years, diagnosis of Trisomy 21, and complaint of dysphonia. The data extracted included history of dysphonia, co-morbidities, demographic information, age at presentation, perceptual voice assessments, voice quality of life scores, acoustic data, laryngoscopic and/or videostroboscopic exams, and surgical procedures.
Twenty-three total patients met the study criteria. Of these children, 13 (57%) were male and 10 (43%) were female. The mean age at first presentation was 4.08 years (range 12 days–16.3 years). Eleven of the 23 patients presented within the first 12 months of life. Sixteen patients were diagnosed with vocal fold immobility, 13 of which were left-sided unilateral immobility and the remaining 3 were bilateral immobility. 5 patients were diagnosed with vocal fold nodules. 12 children in the immobility group had a history of cardiothoracic surgery at our institution. Only 3 patients had Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) assessments, though all three showed overall dysphonia ratings of severely deviant, with roughness and strain scores being the most severe.
The most common etiology of dysphonia in our Down syndrome patient population was vocal fold immobility and hypomobility, as opposed to vocal fold nodules (which is the most common in the general pediatric population). The higher likelihood of cardiac surgery in patients with Trisomy 21 may result in the increased incidence of vocal fold immobility. There should be a low threshold to refer dysphonic patients with Down syndrome for laryngoscopic evaluation, as treatment options may be available.
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The overweight rate was 2 times higher in males than in females (31.7% and 16.0%, respectively). While the obesity was more than 2.5 times higher in females than in males (29.0% and 11.5%, respectively). Binary logistic regression analysis showed that none of the factors studied (sex, age, family socioeconomic level, parent's level of education, number of meals per day, physical activity) was risk factor for obesity in our population, except the behavior of eating in the absence of hunger (OR = 4.99; 95% CL: 2.51–9.90; P < 0.0001).
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Une enquête rétrospective, menée entre 2014 et 2017, basée sur un questionnaire standardisé, adressée aux parents de 264 enfants, adolescents et adultes atteints de SD, âgés de 2 à 40 ans. La classification de la corpulence chez l’enfant et l’adolescent a été déterminée selon l’OMS (2007). Les tests du Chi² (χ²) et de Mann–Whitney ont été utilisés pour tester la signification statistique.
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Le surpoids et l’obésité peuvent être considérés comme des facteurs de sur-handicap pour cette population, d’où la nécessité d’une approche nutritionnelle et d’activité physique qui doit s’ajouter à la prise en charge médicale et paramédicale des personnes avec SD.
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Original articlePrevalence, Neonatal Characteristics, and First-Year Mortality of Down Syndrome: A National Study

Objective

Study design

Results

Conclusions

Section snippets

Methods

Results

Discussion

Lancet

J Am Diet Assoc

Survival rates of children with Down syndrome in the northern Netherlands, 1981-1991

Tijdschr Kindergeneeskd

Mortality and causes of death in persons with Down syndrome in California

Dev Med Child Neurol

Complete atrioventricular septal defect in children with Down’s syndrome: good results of surgical correction at younger and younger ages

Ned Tijdschr Geneeskd

Survival of infants born with Down’s syndrome, 1980-1996

Paediatr Perinat Epidemiol

Mortality in Down’s syndrome in relation to congenital malformations

J Intellect Disabil Res

Statistics Netherlands, Centraal Bureau voor de StatistiekNational Dutch data collection of birth and death certificates of 2003

TNO Report on Congenital defects in the Netherlands 1996-2003

Annual Report of the Working Group on Prenatal Diagnosis and Therapy

Capture-recapture methods in epidemiology: methods and limitations

Epidemiol Rev

Down’s syndrome: occurrence and outcome in the north of England, 1985-1999

Paediatr Perinat Epidemiol

Original article
Prevalence, Neonatal Characteristics, and First-Year Mortality of Down Syndrome: A National Study