Pilot study of a virtual weight management program for Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Young people with Duchenne muscular dystrophy (DMD) are at increased risk of obesity. Weight management is important to families; however, several barriers exist. This pilot study aimed to investigate the feasibility and acceptability of a co-designed weight management program for DMD. METHODS: The Supporting Nutrition and Optimizing Wellbeing Program (SNOW-P) was a single-arm diet and behavior weight management intervention delivered via weekly telehealth/phone visits over 6 weeks to young people with DMD and obesity (body mass index (BMI) ≥95th percentile) and their caregivers. Using an online survey, caregivers of boys with DMD were consulted on the structure and topics delivered in SNOW-P. Primary outcomes were feasibility and acceptability; secondary outcomes were weight, physical function, and quality of life at 6- and 12-weeks follow-up. RESULTS: Of nineteen eligible participants, eight were enrolled (median age 11.4 years, range 4.9-15.8), and seven completed the program. Visit attendance was high (88%-100%); most participants reported high satisfaction and that participation was easy. Suggested changes included online and visual DMD-specific resources. At 6-weeks, median change in weight z-scores was -0.01 (IQR: -0.23, 0.17) indicating that on average, weight gain tracked as expected for age. Waist circumference measured by caregivers lacked accuracy and the completion rate of caregiver-reported secondary outcome measures (e.g., food diaries) was low. DISCUSSION: A co-designed, telehealth/phone weight management program appeared to be feasible and acceptable in a small group of boys with DMD. An adapted, hybrid telehealth and face-to-face program is recommended for efficacy testing.

Delivering multidisciplinary neuromuscular care for children via telehealth.

INTRODUCTION/AIMS: In response to coronavirus disease 2019 (COVID-19) pandemic restrictions int 2020, our face-to-face (F2F) multidisciplinary neuromuscular clinic (NMC) transitioned to widespread use of telehealth (TH). This study aimed to (1) understand parent/guardian, child, and clinician perceptions of TH; (2) examine TH-related changes in clinical activity; and (3) use these findings to inform a future model of care for the NMC. METHODS: A clinical audit was undertaken to examine clinical activity throughout 2018-2020. Online surveys were distributed to clinicians and parents of children attending the NMC via TH in 2020. A working group of clinicians created a checklist to guide a future hybrid model of TH and F2F care. RESULTS: Total clinical activity in 2020 was maintained from previous years; 62.8% of all appointments occurred via TH, and 82.3% of patients attended NMC by TH at least once. Ninety-nine parents (30.6% response rate), 52 children, and 17 clinicians (77% response rate) responded to the survey. All groups reported better interaction when F2F compared to TH. Eighty percent of parents identified advantages of TH and reported lower levels of stress. A lack of "hands-on" physical assessment was identified by parents and clinicians as a TH limitation. Most families (68.1% of parents; 58.8% of children) and all clinicians indicated a preference for a mix of TH and F2F NMC appointments in the future. DISCUSSION: This study has informed a checklist to guide future TH use in a new hybrid model of care. Further investigation is required to assess health impacts of TH use in pediatric neuromuscular care.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.

BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. Guidelines for the optimal management of common problems experienced by individuals with CMT do not exist, for either children or adults. We formed the Paediatric CMT Best Practice Guidelines Consortium to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT, with the primary objective of promoting optimal, standardised care globally. METHODS: Development of this clinical practice guideline involved a series of systematic reviews covering 10 clinical questions, modified Delphi methodology involving an international panel of clinicians to generate consensus where evidence did not exist, and application of the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach to evaluate the body of literature and formulate recommendations. RESULTS: The final guideline includes three evidence-based and 31 consensus-based recommendations. They encompass the management of muscle weakness, balance and mobility impairment, sensory symptoms, muscle cramps, impaired upper limb function, respiratory impairment, maintenance of joint range of motion and non-surgical management of joint deformity. Consensus was not achieved in some management areas, reflecting differences in practice between clinicians and healthcare settings, and highlighting the need for further research. CONCLUSIONS: This clinical practice guideline provides practical and implementable guidance on the management of common clinical problems experienced by children with CMT and advocates for improved access to multidisciplinary care. Successful dissemination and implementation of these recommendations will be critical in ensuring their application across multiple healthcare settings.

Feasibility of scaling-up a community-based exercise program for young people with disability.

PURPOSE: To evaluate feasibility of scaling up a 12-week community-based exercise program (FitSkills) in which young people with disability exercise with a student mentor. METHOD: Within a stepped wedge cluster randomised trial, seven domains of feasibility were assessed: demand, implementation, acceptability, practicality, adaptation, integration, and expansion. RESULTS: Of the 163 participants with disability (61 females; 20.8 ± 5 y) and 226 mentors who enrolled, 123 participants and mentors completed FitSkills. Population demand was estimated at 9% of members of participating organisations. Most participants (76%) completed the twice-weekly program within 12 weeks, attending 79% of sessions (mean 18.9 ± 4.7). Key program elements valued by participants were the mentor, tailored exercise, and regular program schedule. Majority (87%) of mentors were recruited from physiotherapy, occupational therapy, and exercise science courses. Positives for participants were perceived benefits and organisational support, and for mentors, understanding disability. Communication and scheduling were burdens. Three serious and 28 non-serious adverse events occurred. Adaptations (additional screening, risk analysis, extra mentor support, or in-person consultation) enabled 29 young people with complexity to participate. The number of trial sites was expanded to 11 to accommodate participants. CONCLUSIONS: Scaling-up FitSkills is feasible, but with caveats related to communication, scheduling, and efficiency of recruitment.IMPLICATIONS FOR REHABILITATIONKey elements valued by participants as part of the successful scale-up of a community-based exercise program (FitSkills) across a large metropolitan city included a peer-mentor, tailored exercise, and organisational support structure.FitSkills can be adapted to include young people with complex disability with additional supports including screening, risk analysis, and professional support for the peer-mentor.The benefits of FitSkills, including social connectedness for young people with a disability and normalisation of disability for mentors, outweigh the burdens of participation.Communication with program organisers and scheduling logistics between the young person, their family/carers and peer mentors are important factors to manage for the successful implementation of FitSkills.

Characterising gait in paediatric neuromuscular disorders: an observational study of spatio-temporal gait in a clinical cohort.

AIM: Few studies have characterised the relationship between disease and gait function in children and young people with rare neuromuscular disorders (NMDs). This study aimed to describe the relationship between disease and gait in a large paediatric cohort from a neuromuscular outpatient clinic. METHODS: A prospective, cross-sectional study of gait in independently ambulant children and young people aged 4-21 years with a clinical or genetically confirmed NMD. Participants traversed an electronic walkway barefoot and in footwear at self-selected and fast pace. Analysis of disease included a typically developing (TD) reference group. RESULTS: A sample of 113 participants with NMD, mean age 9.5 years (SD 3.1), 28% female, grouped into nine diagnostic subgroups. Eighty percent reported limitations to functional mobility. Children with NMD walked slower, with a shorter and wider step compared to a TD reference group, with moderate to large effect sizes for each of these gait parameters indicative of the clinical significance of these gait deviations. Children with Duchenne muscular dystrophy (DMD) walked slowest with a markedly wide gait pattern. Footwear had little overall effect on gait in children with NMDs. All children could accelerate over short distances. CONCLUSIONS: Gait, notably speed, step length, and width are clinically significant biomarkers of disease in paediatric NMDs, affording objective functional measures in clinical settings and research.Implications for rehabilitationGait should be considered a functional biomarker of disease in children and young people with neuromuscular disorders (NMDs).Comparison of gait in a paediatric neuromuscular cohort indicates that children with Duchenne muscular dystrophy (DMD) walk slowest with a shorter step length and a wider step width which increases with age and disease progression.Measurement of gait speed is a simple, pragmatic tool to monitor disease progression in the outpatient clinical environment and relates to everyday function.In clinical research, gait can be measured as a functional outcome to demonstrate change from disease-modifying interventions and treatments in NMDs.

Social Support Initiatives That Facilitate Exercise Participation in Community Gyms for People with Disability: A Scoping Review.

People with disability report social support facilitates participation in physical activity. A scoping review explored social support strategies used to facilitate exercise participation for people with disability (aged ≥ 15 years) in community gym settings. Seven electronic databases were searched. Studies were screened for eligibility based on title and abstract followed by full-text review. Data were analysed using content analysis and narrative synthesis. Forty-two articles reporting data from 35 studies were included. Eight types of social support were identified: supervision (n = 30), peer support (n = 21), specialist support (n = 19), orientation (n = 15), education (n = 7), logistical support (n = 6), motivational support (n = 5) and organised social activities (n = 4). Direct supervision was typically provided 1:1 or in small groups by staff experienced working with people with disability. Peer support typically involved support from exercise group participants or a peer mentor. Specialist support was usually provided by a health or exercise professional either directly to people with disability or to the people providing support to them (e.g., trainer). Orientation to the gym environment, equipment and exercise program was usually provided over 1 or 2 sessions. Gym staff may use these strategies to guide the implementation of social supports within their facilities to promote social connectedness and participation for people with disability.

The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study.

PURPOSE: We explored the effects of standardized calf massage in ambulant boys with Duchenne muscular dystrophy (DMD) using a prospective study design. MATERIALS AND METHODS: Twenty boys completed two study visits, 1 week apart. At both visits, each leg received a 10-min calf massage (intervention) and a 10-min control rest period (placebo) in randomized order. Muscle length of calf and hamstrings and gastrocnemius stiffness were measured by a blinded assessor before and after intervention and placebo. Measures of gait function (timed 10-m walk/run and spatio-temporal gait parameters); gastrocnemius muscle ultrasound findings; participant perception of leg pain, stiffness and effort of walking and general psychological well-being were also collected. RESULTS: Consistent significant small increases in muscle length of soleus, gastrocnemius and hamstrings were recorded post-massage, and gastrocnemius stiffness decreased. Small changes in gastrocnemius and soleus length only were also recorded following the control rest period. Gait function and general well-being remained stable throughout. Measurement across both study visits suggested that gains in muscle length may be cumulative with repeated massage. CONCLUSIONS: Calf massage is safe and associated with benefits to muscle length and stiffness for ambulant boys with DMD.Implications for RehabilitationIn a small sample of boys with Duchenne muscular dystrophy, calf massage was found to be safe, well-tolerated and associated with increased muscle length and decreased stiffness.The use of massage may assist in managing muscle length in boys with Duchenne muscular dystrophy.

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

BACKGROUND: Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and Disability (ICF) model, assessment of gait and functional ambulation should consider the impairments, activity limitations and participation restrictions due to disease, and factors related to the environment and the individual person. METHODS: This narrative review involved a literature search of databases including Medline, Embase and Pubmed from 1946 to October 2019. Inclusion criteria included assessments of gait, endurance and ambulatory function in paediatric (0-18 years) neuromuscular diseases. RESULTS: Fifty-two papers were identified reporting assessments of gait speed, timed function, endurance and ambulatory capacity, gait-related balance and qualitative descriptive assessments of gait function and effect of disease on gait and gait-related activities. Gait speed is an indicator of disability and children with neuromuscular disease walk slower than typically developing peers. Increasing disease severity and age were associated with slower walking in children with Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. The six-minute walk test is used widely as a test of endurance and ambulatory capacity; six-minute walk distance was substantially reduced across all paediatric neuromuscular diseases. Endurance and ambulatory capacity was more limited in children with spinal muscular atrophy type 3, congenital muscular dystrophy and older boys with Duchenne muscular dystrophy. Only a few papers considered normalisation of gait parameters accounting for the effect on gait of height in heterogeneous groups of children and linear growth in longitudinal studies. Balance related to gait was considered in five papers, mainly in children with Charcot-Marie-Tooth disease. There was limited investigation of factors including distance requirements and terrain in children's typical environments and personal factors related to self-perception of disease effect on gait and gait-related function. CONCLUSION: Assessments of gait and functional ambulation are important considerations in documenting disease progression and treatment efficacy in the clinical setting; and in clinical trials of disease-modifying agents and physiotherapeutic interventions in paediatric neuromuscular diseases. There is a need for expert consensus on core gait and functional ambulation assessments for use in clinical and research settings.

The relationship between maternal plasma homocysteine in early pregnancy and birth weight.

Background: There is limited evidence that plasma homocysteine (Hcy) is increased in women with adverse pregnancy outcomes, such as low birth weight (LBW).Objective: We examined the relationship between maternal Hcy at the first prenatal visit and birth weight.Study design: In a prospective observational study, women were recruited during their first prenatal visit after sonographic confirmation of gestational age. Along with the standard tests, blood was also taken for the measurement of maternal serum and red blood cell (RBC) folate, vitamin B12, and Hcy. In addition to collecting standard clinical and sociodemographic details, a detailed questionnaire on vitamin supplementation was completed under supervision. Birth outcomes were collected immediately after delivery.Results: Of 498 women recruited, 213 (42.8%) were nulliparous, 97 (19.4%) were obese, 64 (12.9%) selfreported as current smokers, and 489 (98.2%) were taking folic acid (FA) supplements at presentation. The mean (SD) birth weight was 3426.3 g (600.7), 14.0% of infants were small for gestational age, and 7.4% were large for gestational age. Mean (SD) plasma Hcy was 7.1 (2.1) µmol/l. On multiple linear regression, higher plasma Hcy was associated with selfreported smoking (p = .009), relative income poverty (p = .037) and Irish nativity (p = .009). There was no relationship between maternal plasma Hcy and birth weight centile, either overall or when analyzed separately for either smokers (r = 0.0001, p = .98) and nonsmokers (r = -0.007, p = .097). Plasma Hcy was correlated negatively with serum folate, RBC folate, and serum vitamin B12. There was no association between maternal Hcy and the duration of FA supplementation in weeks (r = -0.08, p = .083) or between maternal Hcy and gestational age at phlebotomy (r = -0.54, p = .35).Conclusions: In this well-characterized cohort of women in early pregnancy, there was no correlation between maternal plasma Hcy and birth weight. However, higher Hcy was associated with maternal smoking and social deprivation which may explain the association reported previously between an increased Hcy and LBW.RationaleThis study was conducted to investigate the relationship between maternal homocysteine in early pregnancy and infant birth weight. Increased plasma homocysteine in early pregnancy was not associated with a lower birth weight. However, there was a positive correlation between increasing plasma homocysteine and maternal smoking and social disadvantage which are risk factors for lower birth weight. This study highlights the importance of correcting for confounding variables, such as smoking and social disadvantage, when evaluating the relationship maternal nutritional biomarkers and intrauterine fetal development.RationaleThis study was conducted to investigate the relationship between maternal homocysteine in early pregnancy and infant birth weight. Increased plasma homocysteine in early pregnancy was not associated with a lower birth weight. However, there was a positive correlation between increasing plasma homocysteine and maternal smoking and social disadvantage which are risk factors for lower birth weight. This study highlights the importance of correcting for confounding variables, such as smoking and social disadvantage, when evaluating the relationship maternal nutritional biomarkers and intrauterine fetal development.

Evaluating the Standardization of Transitions of Care in a Texas-Mexico Border Academic Family Medicine Practice.

PURPOSE: This quality improvement project aimed to assess the elements of the current workflow process that meets requirements for transitions of care from a family medicine inpatient to outpatient service following the Transitional Care Management (TCM) program developed by the Centers for Medicare & Medicaid Services. The purpose of the study was to assess the current family medicine workflow and determine whether the current process meets the criteria for billing and calculate the potential loss of reimbursement. METHODS: Interviews with key personnel, review of practice policies, and a retrospective chart review were performed for clinic patients discharged from the inpatient to outpatient family medicine service. RESULTS: A total of 37 patients met inclusion criteria for the chart review. Of these, 8% of patients seen at the outpatient clinic met all criteria for TCM. Potential reimbursement for those who met TCM criteria was $293.14 USD; the estimated potential TCM reimbursement for patients not meeting criteria was $1997.76 USD. CONCLUSION: Standardized, team-based TCM services have shown to decrease readmission rates for high-risk patient populations. Results from this project identified processes in place at the family medicine practice to facilitate the development of a standardized transitional care service which could meet both TCM and best practice models.

Assessing maternal dietary quality in early pregnancy in the programming of intrauterine fetal growth.

INTRODUCTION: It is established globally that a healthy maternal diet during pregnancy is important in programming fetal growth and development. The assessment of maternal dietary intake, however, is challenging both in clinical practice and in research studies. The aim of this study was to compare three individual dietary quality scores in early pregnancy based on European, American and World Health Organization (WHO) nutrient recommendations for the identification of suboptimal fetal growth. MATERIAL AND METHODS: Women were recruited conveniently at their first antenatal hospital visit and completed a supervised 4-day diet history. The results were dichotomized into those women meeting and those not meeting macronutrient and micronutrient recommendations from the European Food Safety Authority (EFSA), WHO and the Institute of Medicine (USA). Composite nutrient scores were derived. The relation between the three individual dietary scores in early pregnancy and subsequent birthweight and small-for-gestational-age was compared using regression analyses. RESULTS: Of the 202 women, the mean age was 32.2 (SD 5.0) years and 44.6% were nulliparas. The mean dietary quality scores were: EFSA 9.4 (SD 3.1), WHO 8.5 (SD 3.7) and USA 9.6 (SD 3.6). On multivariable regression, there was a positive relationship between the EFSA (ß = 44.7, 95% CI 17.0-72.4, P = 0.002), WHO (ß = 39.2, 95% CI 17.2-61.1, P = 0.001), and USA (ß = 40.0 95% CI 17.6-62.3, P = 0.001) score and birthweight. All 3 scores were positively associated with birthweight centiles. However, only those in the lowest quartile of the EFSA score were more likely to be small-for-gestational-age (odds ratio 2.8, 95% CI 1.1-7.4, P = 0.03). CONCLUSIONS: This study found that a dietary quality score based on European nutrient recommendations was better than other international recommendations at identifying in early pregnancy those women at risk of suboptimal fetal growth.

Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study.

BACKGROUND: Disability related to the progressive and degenerative neuropathies known collectively as Charcot-Marie-Tooth disease (CMT) affects gait and function, increasing with age and influencing physical activity in adults with CMT. The relationship between CMT-related disability, ambulatory function and physical activity in children and adolescents with CMT is unknown. METHOD: A cross-sectional case-controlled study of physical activity in 50 children with CMT and age- and gender-matched typically developing (TD) controls [mean age 12.5 (SD 3.9) years]. A 7-day recall questionnaire assessed physical activity; CMT-related disability and gait-related function were measured to explore factors associated with physical activity. RESULTS: Children with CMT were less active than TD controls (estimated weekly moderate to vigorous physical activity CMT 283.6 (SD 211.6) minutes, TD 315.8 (SD 204.0) minutes; p < 0.001). The children with CMT had moderate disability [CMT Pediatric Scale mean score 17 (SD 8) /44] and reduced ambulatory capacity in a six-minute walk test [CMT 507.7 (SD 137.3) metres, TD 643.3 (74.6) metres; p < 0.001]. Physical activity correlated with greater disability (ρ = -0.56, p < 0.001) and normalised six-minute walk distance (ρ = 0.74, p < 0.001). CONCLUSIONS: CMT-related disability affects physical activity and gait-related function in children and adolescents with CMT compared to TD peers. Reduced physical activity adversely affects function across the timespan of childhood and adolescence into adulthood in people with CMT.

Development of a novel Periconceptual Nutrition Score (PENS) to examine the relationship between maternal dietary quality and fetal growth.

BACKGROUND: Maternal nutrition may influence intrauterine fetal development. To date, the relationship between contemporary European dietary guidelines and fetal growth has not been examined. AIMS: To develop a novel Periconceptual Nutrition Score (PENS) to assess maternal dietary quality in early pregnancy and examine its relationship with fetal growth. STUDY DESIGN: Women were recruited conveniently at their first clinic visit and completed a supervised four day retrospective diet history. The PENS was developed using European Food Safety Authority recommended dietary intakes for pregnancy. The relationship between PENS and fetal growth was examined. SUBJECTS: Women with a singleton pregnancy. OUTCOME MEASURES: Birthweight, small for gestational age (SGA), neonatal head circumference. RESULTS AND CONCLUSIONS: Of the 202 women, the mean age was 32.2 ±â€¯5.0 years and 44.6% were nulliparas. The mean PENS was 9.4 ±â€¯3.1. On multivariable regression, there was a positive relationship between the PENS and birthweight (beta = 45.3, 95%CI 14.8-75.9, P = 0.002) and neonatal head circumference (beta = 0.12, 95%CI 0.01-0.23, P = 0.03). Compared with the lowest PENS quartile, the mean birthweight was increased in the highest quartile (Mean difference 328 g, P = 0.02). The incidence of SGA was 16.4% (n = 10/61) in the lowest PENS quartile compared to 6.5% (n = 9/139) in the top three quartiles (P = 0.03). Thus, higher maternal dietary quality was associated with increased intrauterine fetal growth. The PENS is potentially useful in identifying those women before or during pregnancy who may benefit from dietary interventions that may optimise fetal growth. It may also be useful in tracking maternal dietary quality during pregnancy.

The identification of maternal smokers postnatally in an Irish maternity hospital.

BACKGROUND AND AIMS: While many women quit smoking spontaneously before or during early pregnancy, information is limited about maternal smoking as pregnancy advances. This study examined the smoking behaviour of women throughout pregnancy and immediately after delivery. METHODS: Women on the postnatal ward were consented for BCO testing and after completing this under supervision, they were asked to complete an accompanying questionnaire on smoking behaviour (unsupervised). RESULTS: In this small pilot study, we found BCO testing in an inpatient environment, not surprisingly, was ineffective in identifying current smokers. As reported in other studies, we found that few women quit smoking after the time of the first antenatal visit. CONCLUSIONS: This suggests that postnatal smoking cessation interventions should receive greater attention. We recommend that all women who identify themselves as current smokers at the first antenatal visit should complete a short questionnaire postnatally and should be offered support to quit smoking or maintain cessation after they bring their baby home.

Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study.

OBJECTIVE: To prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT). DESIGN: Prospective cohort study. SETTING: Neuromuscular outpatient clinic of a tertiary paediatric hospital. PATIENTS: Sixty children and adolescents ('children') aged 4-18 years, 30 with CMT and 30 typically developing (TD). MAIN OUTCOME MEASURES: Falls rate over 6 months and falls characteristics questionnaire. RESULTS: Twenty-two children with CMT reported falling at least once in 6 months compared with eight TD children (CMT 2819 (0-1915), TD 31 (0-6) total falls (range)). Detailed falls characteristics were collected from 242 individual falls (CMT 216, TD 26). Injurious falls were reported by 19 children with CMT (74 falls) compared with 2 TD children (3 falls), with cuts, grazes and bruising most common. No fractures were sustained and no child required hospitalisation. However, 12 injuries from falls in children with CMT required management by a healthcare provider, versus none in TD children. Tripping was the most common mechanism of falls in both groups. Age was the strongest predictor of falls (ρ=-0.53, p=0.006) with all children (CMT and TD) aged <7 years falling. Balance was the strongest impairment-related predictor of falls (ρ=-0.47, p=0.02). The conservative estimate of risk of falls in children and adolescents with CMT was 33 times higher than their TD peers (incidence rate ratio=32.8, 95% CI 10.2 to 106.0). CONCLUSIONS: Children and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.

The implications of high carbon monoxide levels in early pregnancy for neonatal outcomes.

OBJECTIVES: The aim of this study was to examine the implications of increased maternal Breath Carbon Monoxide (BCO) levels at the first antenatal visit for subsequent birthweight (BW) and neonatal outcomes. STUDY DESIGN: Secondary analysis of a prospective, observational study. Pregnant women aged ≥18years who understood English were recruited (n=250). However, only women who delivered a normally formed baby weighing ≥500g were analysed (n=234). At the first antenatal visit, a research questionnaire was completed and a BCO test was performed. Obstetric and neonatal data computerised by midwives at the first antenatal visit and updated after delivery were also analysed. RESULTS: Results from the receiver operating characteristic (ROC) curve indicated the highest combined sensitivity and specificity for smoking was observed at a BCO cut-off level of 3ppm (sensitivity 85%, specificity 90%). Of the 234 women, 53 (22.6%) had a BCO ≥3ppm but only 36 (15.4%) disclosed smoking to the midwife on routine questioning. A further 23 (9.8%) were classified as non-disclosers based on a research questionnaire and/or a BCO measurement ≥3ppm. No relationship was found between the self-reported number of cigarettes daily in early pregnancy and BW (r=0.05, p=0.78). However, an inverse relationship was found between maternal BCO levels and BW (r=-0.31, p<0.001). BCO levels ≥3ppm in early pregnancy were associated with an increased risk of emergency caesarean section, low birth weight, BW <25th centile, fetal distress and having two or more adverse pregnancy events (all p<0.05). Smoking non-disclosers had babies with decreased BWs (-400.1g, 95% CI 141.1-659.0g, p<0.001), and higher rates of BW <25th centile (56.5% versus 25.3%, p<0.001), small-for-gestational-age (21.7% versus 9.1%, p<0.001) and fetal distress (39.1% versus 16.0%, p<0.01) compared to non-smokers Non-disclosers at the first antenatal visit also had a 22% higher rate of having two or more adverse pregnancy events (p<0.05). CONCLUSION: The results showed that an increased BCO level was associated with a lower BW and increased risk of adverse pregnancy and neonatal outcomes. This strengthens the case for universal BCO screening at the first antenatal visit. A high BCO reading should be an indication for referral to stop smoking services referral and close fetal surveillance.

Comparison at the first prenatal visit of the maternal dietary intakes of smokers with non-smokers in a large maternity hospital: a cross-sectional study.

OBJECTIVES: Using detailed dietary and supplement questionnaires in early pregnancy, we compared the dietary intakes of micronutrients and macronutrients at the first prenatal visit of women who reported continuing to smoke during pregnancy with the intakes of women who were non-smokers. DESIGN: Cross-sectional study conducted between June 2014 and March 2016. SETTING: Stand-alone tertiary maternity hospital in an urban setting with approximately 8000 deliveries per year. PARTICIPANTS: Women were recruited at their convenience after sonographic confirmation of an ongoing singleton pregnancy (n=502). Detailed dietary and supplement information was available for 398 women. Women <18 years and those who did not speak English fluently were excluded. PRIMARY AND SECONDARY OUTCOME MEASURES: The differences in dietary micronutrients and macronutrients and maternal folate levels between women who continued to smoke in pregnancy compared with non-smokers. RESULTS: Of the 502 women, the mean age was 30.5 (SD 5.6) years, 42.5% were nulliparas, 19.2% were obese and 398 (79.3%) completed the questionnaire satisfactorily. In the 50 (12.6%) current smokers, the micronutrients magnesium, iron, carotene and copper were lower (all p<0.005) whereas sodium and chloride were higher compared with the 348 (87.4%) non-smokers. Smokers reported lower intakes of dietary total folate (p=0.006) compared with non-smokers (i.e., dietary folate equivalents; intake from natural and fortified dietary sources) (p=0.005). Smokers also reported lower intakes of fibre than non-smokers (13.1 g (IQR 7.7) vs 16.3 g (IQR 8.5), p<0.001). The dietary intakes of former smokers compared favourably with non-smokers. CONCLUSIONS: We found that women who continue to smoke during pregnancy have serious dietary inadequacies which could potentially aggravate fetal growth restriction associated with direct toxicity from cigarettes. This provides a further reason to promote smoking cessation interventions in pregnancy, and highlights the need for dietary and supplementation interventions in women who continue to smoke.

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Introduction: The nerve sonographic features of Dejerine-Sottas disease (DSD) have not previously been described. Methods: This exploratory cross-sectional, matched, case-control study investigated differences in nerve cross-sectional area (CSA) in children with DSD compared to healthy controls and children with Charcot-Marie-Tooth disease type 1A (CMT1A). CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with DSD, controls, and CMT1A was determined individually and within each group. Results: Five children with DSD and five age- and sex-matched controls were enrolled. Data from five age-matched children with CMT1A was also included. Group comparison showed no mean difference in nerve CSA between children with DSD and controls. Individual analysis of each DSD patient with their matched control indicated an increase in nerve CSA in three of the five children. The largest increase was observed in a child with a heterozygous PMP22 point mutation (nerve CSA fivefold larger than a control and twofold larger than a child with CMT1A). Nerve CSA was moderately increased in two children-one with a heterozygous mutation in MPZ and the other of unknown genetic etiology. Conclusions: Changes in nerve CSA on ultrasonography in children with DSD differ according to the underlying genetic etiology, confirming the variation in underlying pathobiologic processes and downstream morphological abnormalities of DSD subtypes. Nerve ultrasound may assist in the clinical phenotyping of DSD and act as an adjunct to known distinctive clinical and neurophysiologic findings of DSD subtypes. Larger studies in DSD cohorts are required to confirm these findings.

Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study.

OBJECTIVE: Children with Charcot-Marie-Tooth disease (CMT) report problems with gait and footwear. We evaluated differences in spatio-temporal gait variables and gait variability between children with CMT and typically developing (TD) children, and investigated the effect of footwear upon gait. METHOD: A cross-sectional study of 30 children with CMT and 30 age- and gender-matched TD children aged 4-18 years. Gait was assessed at self-selected speed on an electronic walkway while barefoot and in two types of the child's own footwear; optimal (e.g., athletic-type runners) and suboptimal (e.g., flip-flops). RESULTS: Children with CMT walked more slowly (mean (SD) -13.81 (3.61) cm/s), with shorter steps (-6.28 (1.37) cm), wider base of support (+2.47 (0.66) cm; all p < 0.001) and greater base of support variability (0.48 (0.15) cm, p = 0.002) compared to TD children. Gait was faster in optimal footwear than suboptimal (-7.55 (1.31) cm/s) and barefoot (-7.42 (1.07) cm/sec; both p < 0.001) in the combined group of children. Gait in suboptimal footwear was more variable compared to barefoot and optimal footwear. Greater base of support variability and reduced balance was moderately correlated for both groups (CMT and TD). CONCLUSION: Gait is slower with shorter, wider steps and greater base of support variability in children with CMT. Poor balance is associated with greater base of support gait variability. Suboptimal footwear negatively affects gait in all children (CMT and TD), which has clinical implications for children and adolescents with CMT who have weaker feet and ankles, and poor balance.