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A validation study of a modified Bouchard activity record

We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.

Assessment and management of nutrition and growth in Rett syndrome

We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.

Experience of gastrostomy using a quality care framework: The example of Rett syndrome

We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.

Linking MECP2 and pain sensitivity

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

Physical and mental health of mothers caring for a child with Rett syndrome

We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.

Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.

Measurement and Resources

We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.

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.

The Sibling Project

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.