Rory O’Sullivan

Exploring an objective measure of overactivity in children with rare genetic syndromes

Rory O’Sullivan, Stacey Bissell, Georgie Agar, Jayne Spiller et autres

BACKGROUND: Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this …

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Exploring objective measures of overactivity in children with rare genetic syndromes

Rory O’Sullivan, Stacey Bissell, Georgie Agar, Jayne Spiller et autres

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Concordance of objective and subjective measures of sleep in children with neurodevelopmental conditions: A systematic review and meta-analysis

Rory O’Sullivan, Stacey Bissell, Anna Hamilton, Andrew P. Bagshaw et autres

The purpose of this systematic review and meta-analysis is to delineate the concordance of objective and subjective measures of sleep in children with neurodevelopmental conditions (NDCs). A systematic literature search identified 31 studies that compare objective and subjective estimates of sleep parameters …

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Correction to: The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis

Catherine Laverty, Andrew Surtees, Rory O’Sullivan, Daniel Sutherland et autres

While the University of Birmingham exercises care and attention in making items available there are rare occasions when an item has been uploaded in error or has been deemed to be commercially or otherwise sensitive.If you believe that this is the case …

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The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis

Catherine Laverty, Andrew Surtees, Rory O’Sullivan, Daniel Sutherland et autres

INTRODUCTION: Preterm birth (<37 weeks) adversely affects development in behavioural, cognitive and mental health domains. Heightened rates of autism are identified in preterm populations, indicating that prematurity may confer an increased likelihood of adverse neurodevelopmental outcomes. The present meta-analysis aims to synthesise …

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Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Jessica A. Radley, Rory O’Sullivan, Sarah Turton, Helen Cox et autres

Whole-exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. Presented here are 14 new patients with IQSEC2 …

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Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties

Meena Balasubramanian, Nadja Fratzl‐Zelman, Rory O’Sullivan, Mary Bull et autres

BACKGROUND: Idiopathic Juvenile Osteoporosis (IJO) refers to significantly lower than expected bone mass manifesting in childhood with no identifiable aetiology. IJO classically presents in early pubertal period with multiple fractures including metaphyseal and vertebral crush fractures, and low bone-mass. METHODS: Here we …

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Advance directives: survey of primary care patients.

Rory O’Sullivan, Kevin Mailo, Ricardo Angeles, Gina Agarwal

OBJECTIVE: To establish the prevalence of patients with advance directives in a family practice, and to describe patients' perspectives on a family doctor's role in initiating discussions about advance directives. DESIGN: A self-administered patient questionnaire. SETTING: A busy urban family medicine teaching …

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