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A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 LockdownRett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.
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Who suffered most? Parental stress and mental health during the COVID-19 pandemic in GermanyThis study examines gender and socioeconomic inequalities in parental psychological wellbeing (parenting stress and psychological distress) during the COVID-19 pandemic in Germany. Background: The dramatic shift of childcare and schooling responsibility from formal institutions to private households during the pandemic has put families under enormous stress and raised concerns about caregivers’ health and wellbeing.
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A Co-Designed Online Education Resource on Gastrostomy Feeding for Parents and Caregivers to Support Clinical CareChildren with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource.Â
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Surfacing undiagnosed disease: consideration, counting and codingThe diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.
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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder
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Incidence and associated risk factors for falls in adults with intellectual disabilityPeople with intellectual disability fall at a younger age compared with the broader community
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The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian childrenMECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
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Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based StudyThe present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
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The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort studyDevelopmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months
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Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.