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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome

The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture

Research conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...

Influence of the environment on participation in social roles for young adults with down syndrome

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...