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Research

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

Research

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.

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Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.

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Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.

Research

The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta-analysis

Mental health conditions and problems are often reported in children and adolescents with CP. A systematic review was undertaken to describe their prevalence.

Research

Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative review

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability

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Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...

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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.

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Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome