Developmental Medicine and Child Neurology最新文献

Aim: To refine the Gross Motor Family Report (GM-FR) using parents' input and to evaluate its psychometric properties.

Method: In this measurement study, 12 parents of children and adolescents with cerebral palsy (CP), aged 2 to 18 years, classified in all levels of the Gross Motor Function Classification System (GMFCS), were interviewed about their experience completing the GM-FR (content validity). Parents' feedback was used to refine the measure which was then completed by 146 families to evaluate internal consistency, and discriminative and concurrent validity. Forty-six parents completed the GM-FR again, 7 to 30 days later, to evaluate test-retest reliability.

Results: GM-FR scoring, pictures, descriptions, and the total number of items were revised based on parents' feedback. The GM-FR version 2.0 demonstrated high internal consistency (Cronbach's α = 0.99), no floor/ceiling effects, and excellent test-retest reliability (intraclass correlation coefficient = 0.99). GM-FR scores discriminated between GMFCS levels (p < 0.05) and were strongly negatively correlated with GMFCS level (r = -0.92; p < 0.001). GM-FR scores correlated positively and strongly with the Gross Motor Function Measure-66 (r = 0.94; p < 0.001) and the Pediatric Evaluation of Disability Inventory - Computer Adaptive Test mobility domain (r = 0.93; p < 0.001).

Interpretation: Active participation of families in the GM-FR's development facilitated creation of a family-friendly instrument. This study provides strong evidence of reliability and validity to support GM-FR use in clinical practice and research for assessing gross motor performance of children and adolescents with CP.

Aim: To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.

Method: In this retrospective population-based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18 years at diagnosis.

Results: A total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22 months (interquartile range [IQR] = 46 months). In 72 (87%) of the children, brain MRIs revealed abnormal findings, including cerebral white matter abnormalities (n = 49, 59%), brainstem signal abnormalities (n = 28, 34%), thinning of the corpus callosum (n = 30, 36%), delayed myelination (n = 11, 13%), and permanent hypomyelination (n = 9, 11%).

Interpretation: Symmetrical and bilateral white matter signal patterns of the brain MRI should raise suspicion of genetic disorders when the clinical symptoms are compatible. This study illustrates brain imaging patterns of childhood-onset genetic disorders in a population in Northern Finland and improves the diagnostic accuracy of rare genetic disorders.

Aim: To assess the effect of single botulinum neurotoxin A (BoNT-A) injections into the calf muscles on the gross energy cost of walking in children with cerebral palsy (CP) and to evaluate the effect of BoNT-A on walking capacity, physical activity, perceived changes in mobility, and pain.

Method: This was an industry-independent, randomized, quadruple-blind, placebo-controlled, multicentre trial (ClinicalTrials.gov registration: NCT02546999). Sixty-one children (33 male, median age [range] = 8 years [4-16 years]) with spastic CP and classified in Gross Motor Function Classification System (GMFCS) levels I and II allocated to single injections of either BoNT-A or 0.9% saline into the calf muscles. The main outcome was gross energy cost (J/kg/m); secondary outcomes were walking capacity, habitual physical activity, perceived change in mobility tasks, and calf pain at baseline, 4 weeks (P1), 12 weeks (P2), and 24 weeks (P3) after the injection.

Results: The mean change in energy cost did not differ significantly between groups at the primary time point P2 (-0.27 J/kg/m, 95% confidence interval - 0.91 to 0.36, p = 0.404), nor at P1 or P3. Regarding the secondary outcomes, there was some evidence of a larger reduction in pain intensity in the group given BoNT-A (p = 0.043).

Interpretation: One treatment with BoNT-A was not superior to placebo in making walking easier in children with CP classified in GMFCS levels I and II, at least in the short term. BoNT-A may have a pain-reducing effect.

Our scientific conference provides us with a unique opportunity to share knowledge, learn, build skills, and network with colleagues from across the globe. While we were able to pivot and conduct our conference virtually during the COVID-19 pandemic, the opportunities for face-to-face networking were sorely missed. We are excited to once again meet in person for our biennial conference. On behalf of the Australasian Academy of Cerebral Palsy and Developmental Medicine (AusACPDM) we extend a very warm welcome to the 12th AusACPDM Conference, hosted from beautiful Cairns, the traditional lands of the Gimuy Waluburra Yidinji and Yirrganydji people in the tropical north of Australia, 31st July to 3rd August 2024.

The conference theme – Respect, Respond, Reimagine – embodies the core values and visions of our Academy and the program of preconference workshops, free papers, breakfast sessions, focused symposia, instructional workshops, and eminent national and international keynote speakers reflects this strong focus.

Respect for our First Nations people and their enduring connection to country and working together to close the gap in health inequities, respect for people with lived experience and those who care for them, with greater involvement in research from inception and co-design to implementation is reflected in the program. Responding to the COVID-19 pandemic, and the challenges in low-resource settings is showcased as service delivery is reimagined, and technology and AI is harnessed. This impactful program features research from low-resource settings, features new technologies, community participation, orthopaedics, early intervention, pain, sleep, mental health, family wellbeing, adults, reimagining service delivery, measurement and outcomes, and best practice interventions.

Program content will be available on-demand for 3 months via our web-based platform. Our program continues to showcase the exceptional work from our two top PhD candidates in our platform presentations, and we are pleased that our top eight talented PhD scholars will present their work in one of the concurrent oral presentation sessions. We are excited to showcase the amazing work from these talented researchers. We are also supporting our early and mid career researchers with a networking session.

This supplement contains the abstracts of the free papers and PhD platform presentations in partnership with our Academy journal partner, Developmental Medicine & Child Neurology. We acknowledge and thank Leanne Sakzewski as the Scientific Chair and the Scientific Conference Committee for developing a diverse program. Thank you to our Conference Committee co-chairs Alicia Spittle, Sarah McIntyre and Kirsty Stewart, along with other members of our Conference Committee – Sian Williams, Margaret Wallen, Jennifer Lewis, Meredith Wynter, Tessa Devries, Lynda McNamara and our professional conference organisation team

Aim: To determine the frequency, type, clinical, and sociodemographic associations of unmet social needs in children with cerebral palsy (CP).

Method: We conducted a cross-sectional study of parents and carers of children with CP attending a specialist hospital clinic between July and September 2022. Unmet social needs were self-identified using a survey, guided by the WE CARE survey instrument and adapted to the local context. Sociodemographic and clinical data were obtained from medical records. We performed descriptive analysis of participants' unmet social needs, sociodemographic factors, and clinical factors, and examined for associations using a χ² test and logistic regression.

Results: A total of 105 parents and carers completed the survey. Of these, 68 (64.8%) reported one or more unmet social need, with 24 (22.9%) reporting three or more unmet needs. A higher number (three or more) of unmet needs was associated with Gross Motor Function Classification System levels IV and V (odds ratio [OR] = 3.77, 95% confidence interval [CI] = 1.44-9.86) and intellectual disability (OR = 4.63, 95% CI = 1.61-13.31), but were not significant when corrected for neighbourhood socioeconomic disadvantage. The greatest socioeconomic disadvantage was associated with housing concerns (p = 0.002), food (p = 0.026), and financial insecurity (p = 0.02).

Interpretation: Unmet social needs are experienced by most families of children with CP. This study highlights the importance of systematic pathways to identify and address unmet social needs.

Aim: To co-design a social prescribing intervention (the EPIC-CP programme: Equitable Pathways and Integrated Care in Cerebral Palsy) with children with cerebral palsy (CP), their families, and clinicians to address unmet social needs.

Method: The study was conducted (August 2021 to March 2023) at the paediatric rehabilitation departments of the three tertiary paediatric hospitals in New South Wales, Australia. Eligible participants attended or worked at one of the departments, including children with CP, parents/caregivers, and clinicians. Mixed-methods co-design was used in intervention co-production and prototyping. The project was overseen by research advisors with lived experience of CP.

Results: More than 200 participants contributed to the co-design research. Families experienced a substantial burden of unmet social needs. Co-designed interventions involved systematic identification of unmet social needs with (1) targeted community resources and (2) engagement with a 'community linker' who supported children/young people and their families to access health, education, and social services that matched their identified needs and preferences. Research participants co-developed the programme logic model and prototype. This was piloted in research action cycles and iteratively refined until consensus was achieved.

Interpretation: We co-designed a social prescribing programme responsive to the needs of its end-users and purposefully developed to be embedded in the Australian health setting. A pilot randomized controlled trial will further evaluate this intervention.

Aim: To explore the experiences of health services among adults with cerebral palsy (CP) in Ireland, from the perspectives of adults with CP, their support people, and service providers.

Method: A qualitative descriptive study design was used. In-depth semi-structured interviews were conducted between March and August 2021 with adults with CP, people who supported them, and health professionals. Thematic analysis was used to evaluate the data.

Results: Twenty-one adults with CP, seven support people (family carer[s], spouse or partner, or friend), and 15 service providers participated in the study. Adults had a mean age of 38 years 5 months (range 22-58 years) and were classified in Gross Motor Function Classification System levels I to V. Five themes were identified from the data: (1) access challenges in adult services; (2) knowledge and understanding of CP; (3) support people's role and care burden; (4) communication and interaction in adult services; and (5) health system challenges.

Conclusion: Adults with CP in Ireland face multiple challenges accessing the health services they need. Services were reported to be inadequate, with limited resources and understanding of CP. Participants highlighted a need for system-level interventions, including enhanced training for health professionals to effectively meet the needs of adults with CP.