[Neonatal screening for congenital hypothyroidism: more than 30 years of experience in the Netherlands].

Objective: To describe the Dutch neonatal screening programme for congenital hypothyroidism (CH).

Design: Descriptive study.

Method: Data on neonatal screening for CH in the period 1 January 1981 through 31 December 2011 were obtained from the Department for Vaccine Supply and Prevention Programmes of the Dutch National Institute for Public Health and the Environment (RIVM), laboratories and paediatricians to whom babies with abnormal screening results were referred.

Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening.

Background: Much is written about cognitive and motor development; less is known about social and emotional consequences of growing up with congenital hypothyroidism (CH).The objectives of the study were: (1) to compare health related quality of life (HRQoL) and self-worth of 10 year old patients with CH with the general population; (2) to explore associations of disease factors, IQ and motor skills with the outcomes.

Methods: Children with CH and their parents completed several questionnaires.

Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening.

Objective: The Dutch neonatal congenital hypothyroidism (CH) screening procedure and treatment modality has been adapted several times since its national institution in 1981. These changes enabled us to investigate whether earlier treatment has resulted in improved cognitive and motor outcomes. The present study examined whether the advancement of treatment modality has resulted in improved cognitive and motor outcomes.

Thyroid hormone metabolism and environmental chemical exposure.

Background: Polychlorinated dioxins and -furans (PCDD/Fs) and polychlorinated-biphenyls (PCBs) are environmental toxicants that have been proven to influence thyroid metabolism both in animal studies and in human beings. In recent years polybrominated diphenyl ethers (PBDEs) also have been found to have a negative influence on thyroid hormone metabolism. The lower brominated flame retardants are now banned in the EU, however higher brominated decabromo-diphenyl ether (DBDE) and the brominated flame retardant hexabromocyclododecane (HBCD) are not yet banned.

Delayed initiation of breast development in girls with higher prenatal dioxin exposure; a longitudinal cohort study.

Objectives: While many studies have assessed the health impacts of PCDD/Fs and PCBs on animals and humans, long-term consequences for especially adolescents, have not (yet) been well documented. This is certainly also true for the effects of PBDE exposure. As part of a longitudinal cohort study, now well into its second decade, effects of perinatal and current PCDD/F exposure, as well as current dl-PCB and PBDE exposures, on puberty, were assessed.

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

We report on a boy with a congenital disorder of glycosylation (CDG) Ia and a severe narrowing of the spinal canal caused by atlantoaxial subluxation with anterior displacement of C1. C1-laminectomy improved the progressive paresis. Progressive paresis caused by spinal cord compression is a hitherto unrecognized complication in patients with CDG-Ia.