Archives of Disease in Childhood最新文献

Background: Functional tic-like behaviours (FTLB) are characterised by multiple, complex, vocal and/or motor tics, typically with adolescent onset. Emerging research highlights neurodevelopmental conditions as vulnerability markers for FTLB development, yet no studies have specifically studied this subgroup. This study (1) investigates the prevalence of autism in young people with FTLB, (2) compares demographic and clinical features between patients with FTLB with and without autism and (3) examines the diagnostic accuracy of the Development and Well-Being Assessment (DAWBA) in identifying autism in this patient group.

Methods: The study comprised 63 children presenting to the Great Ormond Street Hospital Tic Service between August 2020 and May 2022 with an FTLB diagnosis. Demographic and clinical variables were determined through retrospective chart review.

Results: In the FTLB sample, 69.8% were diagnosed with autism and 37% had Tourette syndrome, both much higher than in the general population. Results indicated that young people with FTLB with and without autism have similar rates of reported impairment, as measured by the Strengths and Difficulties Questionnaire, but those with autism had higher rates of co-occurring attention-deficit/hyperactivity disorder (ADHD, 61%) and specific learning disorders (27%). The DAWBA demonstrated poor sensitivity (ranging from 0.09 to 0.26) in predicting likelihood of autism in this group.

Conclusions: There is a high prevalence of autism in patients with FTLB. Those with FTLB and autism may be more likely to have ADHD and specific learning disorder compared with those with FTLB alone. Better clinical screening for autism is essential in patients with FTLB as DAWBA is insufficient.

Quality improvement (QI) is an integral component of healthcare, driving safer, efficient patient-centred care. QI is a principle-based approach aimed at systematically solving problems to improve service provision and patient outcomes through continuous, iterative testing and adoption of changes. The aim of this article is to improve clinicians' understanding of QI and inspire paediatricians to embed QI into their day-to-day clinical practice. In this review, we explore the fundamental frameworks underpinning QI, the benefits and evidence supporting its transformative role in healthcare and discuss the challenges and strategies for sustaining quality-driven paediatric healthcare.

Background and objective: Most children with the rare disorder Silver-Russell syndrome (SRS) have feeding difficulties and/or gastrointestinal symptoms such as vomiting and constipation, worsening their postnatal growth. Whether the complaints remain in adult life has not been evaluated by large specialised national centres.

Design/setting/patients: All 28 individuals who were referred to the national centre for SRS as children were approached at an adolescent or adult age. We used the validated Gastrointestinal Symptom Rating Scale (GSRS) questionnaire to assess gastrointestinal symptoms during the last week. Individuals with the most bothersome gastrointestinal symptoms completed the Rome IV Diagnostic Questionnaires online, General Anxiety Disorder-7, the Patient Health Questionnaire-9, the Patient Health Questionnaire-12 Somatic Symptom scale and the Patient-Reported Outcomes Measurement Information System Global-10.

Results: The GSRS questionnaires were completed by 18 individuals from the age of 14 years. There was at least one gastrointestinal symptom of moderate severity reported by 11 (61%) individuals. The most frequent symptom domain was related to 'Indigestion' (27%), 'Reflux' (22%) and 'Constipation' (22%). Among 11 individuals with at least one gastrointestinal symptom of moderate severity, six completed the Rome IV Diagnostic Questionnaires and five were diagnosed with a disorder of gut-brain interaction.

Conclusion: Short-term gastrointestinal symptoms are common in young adults diagnosed with SRS. This needs to be further evaluated in prospective studies assessing the chronicity of the symptoms.

Objective: This study aimed to explore health professionals' perspectives on the management of preschool wheeze, including their views on using tests to guide treatment for children with recurrent wheeze.

Design: Purposive and snowball sampling were used in this qualitative study to recruit health professionals with experience of managing children with pre-school wheeze from primary and secondary care settings across England. Semi-structured interviews were conducted via Microsoft Teams. Transcripts were analysed thematically, supported by the use of NVivo software, to identify key themes.

Results: 14 health professionals participated: four general practitioners, four general paediatricians, four hospital asthma nurses, one tertiary respiratory paediatrician and one primary care nurse. Participants agreed that preschool wheeze remains a significant disease. Thematic analysis identified four key themes: (1) challenges with diagnostic terminology, where a lack of consistent terminology was considered to impact communication and management; (2) diagnostic uncertainty, where the absence of objective tests for early asthma diagnosis negatively contributed to management plans; (3) current practice of investigating children with preschool wheeze, where participants described a lack of infrastructure and approach to performing tests in primary and secondary care; and (4) treatment considerations in which parents' medication beliefs were thought to influence adherence to prescribed treatments. There were differences in the views regarding the management of preschool wheeze between primary and secondary care professionals.

Conclusion: Health professionals' views highlight inconsistent use of diagnostic terminology for preschool wheeze, contributing to variation in management. Integrated care pathways and infrastructure are urgently needed to improve outcomes for children with preschool wheeze.