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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
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Hip displacement and scoliosis in Rett syndrome - screening is requiredThe prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
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The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
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Physical and mental health of mothers caring for a child with Rett syndromeThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
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The Sibling ProjectThe Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.
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The Role of Sleep in the Relationship Between ADHD Symptoms and Stop Signal Task PerformanceADHD 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.
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Parent and therapist perspectives on "uptime" activities and participation in Rett syndromePeople 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.
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Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factorIt is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births.
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Determinants of sleep problems in children with intellectual disabilityChildren with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.