Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia

The aim of this study was to define a population-based frequency of TAM in DS newborns. The Dutch Pediatric Surveillance Unit (DPSU) registers newborns with DS and TAM screening was added to this registration from Jan 1, 2008, until Jan 1, 2013 (Erasmus MC MEC-2007-168, Netherlands Trial Register NL1587). Based on the live birth prevalence of DS...

Targeted Deep Sequencing of GATA1 more Sensitively Identifies Transient Myeloproliferative Disorder in Neonates with Down Syndrome

Practical and social skills of 16–19-year-olds with Down syndrome: Independence still far away

Survival of children with Down syndrome (DS) has improved considerably, but insight into their level of daily functioning upon entering adulthood is lacking. We collected cross-sectional data from a Dutch nationwide cohort of 322 DS adolescents aged 16-19 (response 62.8%) to assess the degree to which they master various practical and social...

Growth, development and social functioning of individuals with Down syndrome [groei, ontwikkeling en sociaal functioneren van kinderen en jongeren met Downsyndroom]

In this thesis, four studies on children and adolescents with Down syndrome are described. The first study showed that the number of live births of children with Down syndrome in the Netherlands remained stable over the period 1997-2007 on 14.6 per 10,000 births. Of these, 85% were live born. In the second study is observed that growth...

83 Level of Self-Sufficiency of Young People with Down Syndrome (Age 16–19 Years Old) Oral presentation

Background and aims Becoming independent is for young people with Down syndrome (DS) not a standard development, because of their intellectual impairment. Parents often wonder what level their child with DS might reach. This study aims to measure the level of self-sufficiency and problem behaviour in a large population based sample of 16–19-year...

Prevalence of overweight in Dutch children with Down Syndrome

Prevalence of overweight in children is increasing, causing various health problems. This study aims to establish growth references for weight and to assess the prevalence rates of overweight and obesity in a nationwide sample of Dutch children with Down syndrome (DS), taking into account the influence of comorbidity. METHODS: In 2009,...

Ontwikkelingen in de diagnostiek en behandeling van leukemie bij kinderen met downsyndroom = Developments in diagnosis and treatment of leukemia in children with Down syndrome

Children with Down syndrome (DS) have an increased risk for developing both acute myeloid as well as acute lymphoblastic leukemia. These leukemias differ in clinical characteristics and biology compared to leukemias in non-DS children. Moreover, children with DS have an increased risk of side-effects from cytostatic therapy, which complicates...

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

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....

Variation by ethnicity in incidence of diabetes type 1 and clinical condition at onset in the Netherlands

Optimale zorg voor kinderen met het Down-syndroom en voor hun ouders [Optimal medical care for children with Down's syndrome and their parents]

Children with Down's syndrome have an increased risk of congenital anomalies and additional medical problems. These can be treated but are often seen as part of the syndrome and not as the cause of developmental retardation. Based on the current level of knowledge, specific medical tests and evaluations are recommended. The reasons for these...