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How valid are the rates of Down syndrome internationally?

Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking.

International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies

The aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

The CDKL5 Disorder

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

Rett Syndrome

A severe neurodevelopmental disorder mostly affecting girls.

Rare Diseases

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

Intellectual Disability

About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.