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Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist
How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
We evaluated family satisfaction following spinal fusion in girls with Rett syndrome
A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
ADHD commonly occurs with sleep problems and secondary cognitive impairments such as inhibitory control. Sleep problems may explain attentional lapses and inhibition performance variability in children with ADHD. This study applied Bayesian analyses to examine the relationship between ADHD symptoms, sleep problems, and inhibition.
The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.
People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.