A Survey of Health Care Professionals' Knowledge and Experience of Foetal Alcohol Spectrum Disorder and Alcohol Use in Pregnancy.

BACKGROUND: Foetal alcohol spectrum disorders (FASDs) are one of the most common preventable forms of developmental disability and congenital abnormalities globally, particularly in countries where alcohol is considered socially acceptable. Screening for alcohol use early in pregnancy can facilitate the detection of alcohol-exposed pregnancies and identify women who require further assessment. However, only a small percentage of children with FASD are identified in the United Kingdom. This may be partly attributed to a lack of awareness of the condition by National Health Service (NHS) health professionals. METHODS: We developed an online survey to determine health care professionals' (midwives, health visitors, obstetricians, paediatricians, and general practitioners) perceived knowledge, attitudes, and clinical practices relating to alcohol in pregnancy and FASD. RESULTS: There were a total of 250 responses to the surveys (78 midwives, 60 health visitors, 55 obstetricians, 31 paediatricians, and 26 general practitioners). About 58.1% of paediatricians had diagnosed a patient with foetal alcohol syndrome (FAS) or FASD and 36.7% worried about stigmatisation with diagnosis. Paediatricians reported the highest levels of FASD training (54.8%), with much lower levels in midwives (21.3%). This was reflected in perceived knowledge levels; overall, only 19.8% of respondents knew the estimated UK prevalence of FASD for example. CONCLUSIONS: We identified a need for training in alcohol screening in pregnancy and FASD to improve awareness and recognition by UK professionals. This could improve patient care from the antenatal period and throughout childhood.

Assessing prevalence of alcohol consumption in early pregnancy: Self-report compared to blood biomarker analysis.

Providing appropriate antenatal and postnatal care for women who drink alcohol in pregnancy is only possible if those at risk can be identified. We aimed to compare the prevalence of alcohol consumption in the first trimester of pregnancy using self-report and blood biomarker analysis. Six-hundred routine blood samples from 2014, taken at the antenatal booking appointment, in the first trimester of pregnancy, were anonymously analysed for the presence of Carbohydrate Deficient Transferrin (CDT), a validated marker of chronic alcohol exposure (normalising 2-3 weeks from abstinence) and Gamma-glutamyltransferase (GGT), a liver enzyme elevated for up to 8 weeks after alcohol exposure. In a separate sample of women, from 2015, data taken during the antenatal visit, documenting women's self-reported alcohol consumption, were collected. The percentage of women who reported alcohol intake in the first trimester was 0.8%. This compared to 74.1% of women who reported consuming alcohol before pregnancy. CDT analysis revealed a prevalence rate of 1.4% and GGT a prevalence rate of 3.5% in the first trimester of pregnancy. Although those with elevated CDT generally had high levels of GGT, only one person was positive for CDT and GGT. Results from CDT analysis and self-report may underestimate prevalence for different reasons. GGT appeared to lack specificity, but it may have value in supporting findings from CDT analysis. Further studies using additional blood biomarkers, or a combination of blood biomarkers and self-report, may be beneficial in accurately detecting alcohol drinking history in pregnancy.

Recent advances in the management of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is the commonest inherited neuromuscular disorder of childhood and mainly affects males. Over the course of the last century, the average life expectancy of these patients has doubled and now stands at ∼25 years. This progress has been made possible through advances in the diagnosis, treatment and long-term care of patients with DMD. Basic and clinical research, national and international scientific networks, and parent and patient support groups have all contributed to achieving this goal. The advent of molecular genetic therapies and personalised medicine has opened up new avenues and raised hopes that one day a cure for this debilitating orphan disease will be found. The main purpose of this short review is to enable paediatricians to have informed discussions with parents of boys with DMD about recent scientific advances affecting their child's clinical care.

Comparison of skin conductance measurements and subjective pain scores in children with minor injuries.

AIM: Objective measures of perceived pain may aid clinicians in decision-making regarding analgesia. This study aimed to assess the effectiveness of an algesimeter to assess the pain response of children to minor injury when compared with self-report. METHODS: A commercially available skin conductance algesimeter was used to record pain in children presenting with a minor injury to a district general hospital. The recordings were compared with self-reported pain scores using the Wong-Baker FACES(®) Pain Rating Scale. RESULTS: Sixty-seven children below 16 years of age (36 females, 53.7%, mean age 11.9 years, standard deviation 3.1 years) were assessed. There was a significant correlation between self-reported pain and number of fluctuations in skin conductance per second for girls (r = 0.325, p = 0.027), but not for boys (r = 0.160, p = 0.194). There was no significant association between self-reported pain and number of fluctuation in skin conductance per second and patient age. CONCLUSION: There was a significant correlation between self-reported pain and the number of fluctuations in skin conductance in girls, but not boys. There may be a number of reasons for this gender variation, including difficulty in rating pain and lack of sensitivity in the pain rating scale.

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.

Chromosome 4q deletion syndrome (4q- syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum commonly includes craniofacial, developmental, digital, skeletal, and cardiac involvement. Data on the genotype-phenotype correlation within the 4q arm are limited. We present detailed clinical and genetic information by array CGH on 20 patients with 4q deletions. We identified a patient who has a ∼465 kb deletion (186,770,069-187,234,800, hg18 coordinates) in 4q35.1 with all clinical features for 4q deletion syndrome except for developmental delay, suggesting that this is a critical region for this condition and a specific gene responsible for orofacial clefts and congenital heart defects resides in this region. Since the patients with terminal deletions all had cleft palate, our results provide further evidence that a gene associated with clefts is located on the terminal segment of 4q. By comparing and contrasting our patients' genetic information and clinical features, we found significant genotype-phenotype correlations at a single gene level linking specific phenotypes to individual genes. Based on these data, we constructed a hypothetical partial phenotype-genotype map for chromosome 4q which includes BMP3, SEC31A, MAPK10, SPARCL1, DMP1, IBSP, PKD2, GRID2, PITX2, NEUROG2, ANK2, FGF2, HAND2, and DUX4 genes.

The spectrum of 4q- syndrome illustrated by a case series.

Deletions of the long arm of chromosome 4 detectable by cytogenetic analysis (standard karyotyping), fluorescent in situ hybridisation (FISH), multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridisation (CGH) cause 4q- syndrome. Here we describe 3 cases of 4q- syndrome which demonstrate the variations in clinical presentation, diagnosis and prognosis observed in this condition. Patient 1 was a female foetus diagnosed with del(4)(q33) following chorionic villus sampling (CVS) at 14 weeks, and the pregnancy was terminated at 18 weeks. Patient 2 was a 5-month-old boy with del(4)(q31.3) and complex congenital heart disease. He also had a duplication of chromosome 6p and died of cardiac failure. Patient 3 is a 2-year-old girl with mild dysmorphic features and an interstitial deletion del(4)(q22.1q23). She has no major malformations and only slight developmental delay.

Can home monitoring reduce mortality in infants at increased risk of sudden infant death syndrome? A systematic review.

AIM: To conduct a systematic review to evaluate the effectiveness of home monitoring devices in the prevention of sudden infant death syndrome (SIDS). METHODS: Systematic literature review to June 30, 2010. RESULTS: Eleven unique studies were identified. Only one of these studies involved a comparison of home monitoring with a control intervention and so could be deemed level I evidence. The remaining studies constituted level III evidence. CONCLUSIONS: There is no high-level evidence that home monitoring may be of use in preventing SIDS; further research is needed.

Making the invisible visible: near-infrared spectroscopy and phlebotomy in children.

AIM: Phlebotomy and venous cannulation are the most frequently performed and the most distressing invasive procedures in pediatrics. The aim of this pilot study was to assess whether a novel vein imaging system was advantageous for the identification of superficial veins, thus reducing the number of skin punctures. METHODS: The Vein Viewer was trialled in 50 children <16 years of age who required venous blood sampling or peripheral venous catheterization as part of their standard clinical care. A questionnaire with 10 questions about their experience of using this equipment was distributed to the pediatric doctors and nurses performing the procedures. RESULTS: During a 9-month period, 38 venipunctures and 12 cannulations were performed in 50 children (mean age 6.67 years). On average, 1.7 puncture attempts per child were necessary. Fifty questionnaires were completed by 11 consultants, 16 registrars, 20 senior house officers, and 3 nurses. Seventy-two percent rated the imaging device as useful, 8% as not useful, and 20% remained neutral. Visibility of the peripheral veins was improved in 76% of children, and the same as with room light in 24%. CONCLUSIONS: Near-infrared technology facilitated venipuncture and venous cannulation in a pediatric cohort. Further, controlled trials are required including children of specific age groups and those from ethnic minorities.

Long-term management of children with neuromuscular disorders.

OBJECTIVE: Duchenne muscular dystrophy is the commonest genetic myopathy but there exist a large number of inherited neuromuscular diseases which individually are very rare and where clinical information is not widely available. This review is based on the author's experience in a pediatric muscle clinic and provides practical guidance and treatment plans for frequently encountered problems. SOURCES: A MEDLINE search was conducted to retrieve recent articles relevant to the management of children with inherited myopathies and neuropathies. A patient cohort (n = 200) was evaluated using descriptive statistics. SUMMARY OF THE FINDINGS: Duchenne muscular dystrophy accounted for almost half of the diagnoses, followed by spinal muscular atrophy (12%), Becker muscular dystrophy and myotonic dystrophy (7% each). Sixteen patients (9%) had an unknown myopathy. CONCLUSIONS: As with other chronic illnesses, these patients should be regularly reviewed by health professionals from an early age to increase life expectancy and improve quality of life. It is useful for physicians to take a structured approach when looking after children with neuromuscular disorders and to monitor all affected organ systems.

Manejo de longo prazo em crianças com transtornos neuromusculares / Long-term management of children with neuromuscular disorders

OBJETIVO: A distrofia muscular de Duchenne é o tipo mais comum de miopatia genética. Contudo, existe um grande número de doenças neuromusculares hereditárias que são individualmente muito raras e sobre as quais não há muita informação clínica disponível. Este artigo de revisão baseia-se na experiência do autor em uma clínica pediátrica para tratamento de doenças musculares e apresenta orientação prática e planos terapêuticos para os problemas frequentemente encontrados. FONTES DE DADOS: O banco de dados da MEDLINE foi pesquisado com o objetivo de localizar artigos recentes e relevantes para o manejo de crianças com miopatias e neuropatias hereditárias. Uma coorte de 200 pacientes foi avaliada através de análise estatística descritiva. SÍNTESE DOS DADOS: A distrofia muscular de Duchenne representou quase metade dos diagnósticos, seguida da atrofia muscular espinhal (12 por cento), da distrofia muscular de Becker e da distrofia miotônica (7 por cento cada). Dezesseis pacientes (9 por cento) apresentaram miopatia de origem desconhecida. CONCLUSÕES: Assim como ocorre com outras doenças crônicas, esses pacientes devem passar por acompanhamento periódico realizado por profissionais de saúde desde cedo para aumentar sua expectativa de vida e melhorar sua qualidade de vida. É útil para os médicos adotarem uma abordagem estruturada ao atender crianças com transtornos neuromusculares e monitorar todos os sistemas de órgãos afetados.

OBJECTIVE: Duchenne muscular dystrophy is the commonest genetic myopathy but there exist a large number of inherited neuromuscular diseases which individually are very rare and where clinical information is not widely available. This review is based on the author's experience in a pediatric muscle clinic and provides practical guidance and treatment plans for frequently encountered problems. SOURCES: A MEDLINE search was conducted to retrieve recent articles relevant to the management of children with inherited myopathies and neuropathies. A patient cohort (n = 200) was evaluated using descriptive statistics. SUMMARY PF THE FINDINGS: Duchenne muscular dystrophy accounted for almost half of the diagnoses, followed by spinal muscular atrophy (12 percent), Becker muscular dystrophy and myotonic dystrophy (7 percent each). Sixteen patients (9 percent) had an unknown myopathy. CONCLUSIONS: As with other chronic illnesses, these patients should be regularly reviewed by health professionals from an early age to increase life expectancy and improve quality of life. It is useful for physicians to take a structured approach when looking after children with neuromuscular disorders and to monitor all affected organ systems.

Teaching medical students pediatric cardiovascular examination by telemedicine.

The aim of this feasibility study was to assess whether medical students can be taught the pediatric examination of the cardiovascular system (CVS) facilitated by telemedicine equipment. The views of the students regarding this new technology were sought in a subsequent questionnaire survey. Seventy-seven (n = 77) medical students attended eight telemedicine sessions that consisted of a lecture, case discussion, and physical examination of a child using an electronic stethoscope. The acceptance of this novel teaching method was generally good, but a minority of students (10%) preferred face-to-face encounters with the lecturer. Technical problems were common and may have influenced the outcome of the sessions. Teaching by telemedicine is a viable alternative to conventional teaching and should be applied when clinicians cannot meet the students in person.

Evaluation of dressings used with local anaesthetic cream and for peripheral venous cannulation.

AIM: To compare four polyurethane dressings manufactured by two different companies for use in children. METHOD: Seventy-eight dressings were applied to secure either local anaesthetic creams (n = 62) or intravenous cannulae (n = 16). Each dressing was evaluated for ease of application, security and ease of removal, using a simple scoring system. RESULTS: 84 per cent of Opsite flexigrid and 90 per cent of Tegaderm local anaesthetic cream dressings were rated as easy or very easy to apply. Opsite flexigrid was felt to be more secure, whereas Tegaderm was easier to remove. The Tegaderm cannula dressing was easier to apply than the iv3000 dressing. CONCLUSION: There was little difference between the two brands, including costs.

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b.

Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix. However, there is sequence conservation in some of the ferlin family in regions outside the C2 domains. In one annotation of the domain structure of these proteins, an unusual internal duplication event has been noted where a putative domain is inserted in between the N- and C-terminal parts of a homologous domain. This domain is known as the DysF domain. Here, we present the solution structure of the inner DysF domain of the dysferlin paralogue myoferlin, which has a unique fold held together by stacking of arginine and tryptophans, mutations that lead to clinical disease in dysferlin.