Improving infant outcomes through implementation of a family integrated care bundle including a parent supporting mobile application.

OBJECTIVE: The aim of the Integrated Family Delivered Care (IFDC) programme was to improve infant health outcomes and parent experience through education and competency-based training. DESIGN: In collaboration with veteran parents' focus groups, we created an experienced co-designed care bundle including IFDC mobile application, which together with staff training programme comprised the IFDC programme. Infant outcomes were compared with retrospective controls in a prepost intervention analysis. MAIN OUTCOME MEASURES: The primary outcome measure was the length of stay (LOS). RESULTS: Between April 2017 and May 2018, 89 families were recruited; 37 infants completed their entire care episode in our units with a minimum LOS >14 days. From a gestational age (GA) and birth weight-matched retrospective cohort, 57 control infants were selected. Data were also analysed for subgroup under 30 weeks GA (n=20).Infants in the IFDC group were discharged earlier: median corrected GA (36+0 (IQR 35+0-38+0) vs 37+1 (IQR 36+3-38+4) weeks; p=0.003), with shorter median LOS (41 (32-63) vs 55 (41-73) days; p=0.022). This was also evident in the subgroup <30 weeks GA (61 (39-82) vs 76 (68-84) days; p=0.035). Special care days were significantly lower in the IFDC group (30 (21-41) vs 40 (31-46); p=0.006). The subgroup of infants (<30 weeks) reached full suck feeding earlier (median: 47 (37-76) vs 72 (66-82) days; p=0.006). CONCLUSION: This is the first reported study from a UK tertiary neonatal unit demonstrating significant benefits of family integrated care programme. The IFDC programme has significantly reduced LOS, resulted in the earlier achievement of full enteral and suck feeds.

Feeding problems and malnutrition in spinal muscular atrophy type II.

The aim of the study was to conduct a survey using a dedicated questionnaire to assess feeding difficulties and weight gain in a population of 122 Spinal Muscular Atrophy (SMA) type II patients, aged between 1 and 47 years. All the answers were entered in a database and were analysed subdividing the cohort into age groups (1-5, 6-10, 11-14, 15-19, 20-29, and 30-50 years). Six out of our 122 patients (5%), all younger than 11 years, had weights more than 2SD above the median for age matched controls, whilst 45 (37%) had weights less than 2SD below the median. Chewing difficulties were reported in 34 of the 122 patients (28%) and limitation in the ability to open the mouth in 36 (30%) and both were increasingly more frequent with age. Swallowing difficulties were reported in 30 patients (25%). The results of our survey suggest that a number of patients with SMA type II have limited jaw opening, and chewing and swallowing difficulties. Our findings raise a few issues concerning standards of care that should be implemented in the monitoring and management of feeding difficulties and weight gain.

Consensus statement for standard of care in spinal muscular atrophy.

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources and values have resulted in variable clinical outcomes that are likely to compromise valid measure of treatment effects during clinical trials. The International Standard of Care Committee for Spinal Muscular Atrophy was formed in 2005, with a goal of establishing practice guidelines for clinical care of these patients. The 12 core committee members worked with more than 60 spinal muscular atrophy experts in the field through conference calls, e-mail communications, a Delphi survey, and 2 in-person meetings to achieve consensus on 5 care areas: diagnostic/new interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care. Consensus was achieved on several topics related to common medical problems in spinal muscular atrophy, diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in each care area. A consensus statement was drafted to address the 5 care areas according to 3 functional levels of the patients: nonsitter, sitter, and walker. The committee also identified several medical practices lacking consensus and warranting further investigation. It is the authors' intention that this document be used as a guideline, not as a practice standard for their care. A practice standard for spinal muscular atrophy is urgently needed to help with the multidisciplinary care of these patients.

Feeding problems and weight gain in Duchenne muscular dystrophy.

The aim of the study was to conduct a survey using a dedicated questionnaire to estimate feeding difficulties, gastrointestinal involvement and weight gain in a population of 118 Duchenne muscular dystrophy (DMD) patients (age range 13.80-35.8 years). All the answers were entered in a database and the data analysed subdividing the cohort into age groups (3-9, 9-13, 13-18, 18-24, 24-30, 30-36 years). The results indicate that chewing difficulties are frequent and become increasingly present with age, associated with a progressive increase of the duration of meals. Episodes of choking or other clinical signs of swallowing difficulties are in contrast much less frequent even after age 18. Aspiration pneumonia were also not very frequent and only occurred in 7/118. Clinical signs of gastroesophageal reflux requiring treatment were only found in 5 while 43/118 complained of constipation requiring treatment. Very few of our patients had their weight above 2 SD (n = 4) and this was always found in patients between 9 and 18 years while after this age there was an increasing number of patients with weight below 2 SD. The results of our survey suggest that although choking is one of the most feared complications in patients with DMD, clinical signs of swallowing abnormalities are infrequent when collecting clinical information retrospectively. Further studies using an objective evaluation such as videofluoroscopy are needed to identify minor signs that may not be obvious on clinical examination.

Drinking speed using a Pat Saunders valved straw, wide-bore straw and a narrow-bore straw in a normal adult population.

BACKGROUND: Straw drinking is often recommended as a strategy for managing swallowing difficulties in adult clinical populations. This study presents a range of normal adult straw drinking speeds and discusses clinical applications. METHOD: Straw drinking speed in a normal healthy population of 70 adults from 18 to 95 years of age was measured. Three types of straws were used: a Pat Saunders valved straw (PSVS), a wide-bore straw and a narrow-bore straw (NBS). Participants drank 40  ml of water for each straw tested. All participants were asked to comment on the straws used. A mixed-method design was used wherein both quantitative and simple structured qualitative data were collected. RESULTS: Drinking speed was quickest for the wide-bore straw, followed by the NBS and slowest for the PSVS. This was supported by qualitative comments from the adults who reported that the PSVS was the most difficult straw to use. There were no significant differences between straw flow or straw type and sex of the participants. There were significant changes with aging and a decrease in flow speed with the NBS. Weight and height had some effect on straw drinking speeds. There was a slight correlation between age and sex and age and height, but not between age and weight. CONCLUSION: This article presents data for a normal range of straw drinking speeds in a healthy adult population. It can be used in the assessment and monitoring of straw drinking in acquired disorders of swallowing.

Feeding and communication impairments in infants with central grey matter lesions following perinatal hypoxic-ischaemic injury.

BACKGROUND: Basal ganglia and thalamic (BGT) injury is common after acute perinatal hypoxia-ischaemia. Cerebral palsy is the most obvious consequence of BGT injury affecting 70-75% of survivors and is predictable from neonatal magnetic resonance imaging (MRI). However there is no equivalent predictive data for other specific outcomes. Feeding and communication impairments are also common in children following hypoxic-ischaemic encephalopathy (HIE) and BGT injury. AIMS: To describe, in infants with HIE and BGT injury, the prevalence of feeding and communication impairments; and to evaluate the accuracy of early MRI for predicting these outcomes. METHODS: 175 term infants with HIE and BGT injury were studied. Brain lesions were classified by site and severity from the MRI scans. Motor, feeding and communication impairments were documented at 2 years. RESULTS: Feeding and communication impairments occurred in 65% and 82% of 126 survivors respectively and related strongly to the severity of motor impairment. Forty-one children had a gastrostomy or long-term nasogastric tube. Injury severity in all brain regions was significantly associated with feeding and communication impairment on univariate analysis. On logistic regression analysis BGT (OR 10.9) and mesencephalic lesions (OR 3.7) were independently associated with feeding impairment; BGT (OR 10.5) and pontine lesions (OR 3.8) were associated with gastrostomy; the severity of BGT lesions (OR 20.1) was related to the severity of communication impairment. CONCLUSIONS: Feeding and communication impairment are very common in children with BGT and brainstem injury of neonatal origin and can be well predicted from early MRI scans.

Drinking speed using a valved Pat Saunders straw, wide bore straw and a narrow bore straw in school-age children.

BACKGROUND: To understand the nature of straw drinking in relation to a group of children with specific eating and drinking difficulties, it is first necessary to ascertain the range of normal function. Straw drinking is often recommended as a method that can support children with eating and drinking difficulties. METHOD: This study looked at straw drinking performance in a normal population of 125 children aged between 6 and 11 years of age. Three types of straws were used: a valved Pat Saunders straw, a wide bore straw and a narrow bore straw. Children drank 40 mL of water for each straw tested. RESULTS: Children increased their speed of intake significantly for all straw types as they matured. Drinking speed was quickest for the wide bore straw followed by the narrow bore and slowest for the valved Pat Saunders straw. This was supported by qualitative feedback from the children with most finding the wide bore straw the easiest one to use and the valved Pat Saunders straw the hardest. There were significant differences in speed of flow between the valved Pat Saunders straw and wide bore straw, between the valved Pat Saunders straw and the narrow bore straw and between the wide bore straw and the narrow bore straw. There were no significant differences between straw flow or straw type and gender. CONCLUSIONS: This normative data for straw drinking in a paediatric population can be used to develop baseline measures for clinical assessment.

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

OBJECTIVE: The congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission causing fatigable weakness. Symptoms may be present from birth, but diagnosis is often delayed for several years, notably in post-synaptic CMS due to mutations in the DOK7 gene. Recently, we noted a subgroup of children with CMS in whom congenital stridor and bilateral vocal cord palsy predated other symptoms. All had mutations in the DOK7 gene. The purpose of this study was to review our population of DOK7 CMS patients with congenital stridor and assess whether there were other phenotypic features which might raise suspicion of a diagnosis of CMS in the neonatal period, in the absence of limb weakness and ptosis and prompt earlier referral for neurophysiological investigation, genetic diagnosis and appropriate treatment. METHODS: A retrospective case review of 11 DOK7 CMS patients at a tertiary referral centre. RESULTS: Six patients were identified with DOK7 mutations and congenital stridor, four requiring intubation soon after birth. Four patients had a diagnosis of bilateral vocal cord palsy and three required tracheostomy, successfully decannulated in one after 3 years. All six patients had difficulty with feeding, with weak suck and swallow necessitating nasogastric feeding in five, two of whom required gastrostomy. Despite all six children having had neonatal symptoms, the mean age at CMS diagnosis was 5 years and 9 months. CONCLUSION: CMS, particularly caused by mutations in the DOK7 gene, is a rare but treatable cause of congenital stridor in the neonate. A combination of congenital stridor, especially with an apparently idiopathic bilateral vocal cord palsy and weak suck and swallow should alert the clinician to the possibility of CMS and prompt early referral for neurophysiology and genetic investigations. Confirmation of a CMS diagnosis enables treatment to be initiated, informed management of the VCP and anticipation of myasthenic symptoms, particularly life-threatening respiratory decompensation. Treatment may allow early decannulation or possible avoidance of tracheostomy. At least 12 genes are known to cause CMS; the presence of congenital stridor may help target genetic diagnosis.

Consensus statement on standard of care for congenital muscular dystrophies.

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.

Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome.

Studies of children with neurodevelopmental disorders have shown that receiving nutrition through a gastrostomy can improve clinical outcomes and quality of life. However, there is little information on gastrostomy and its effect in patients with neuromuscular disorders. A retrospective casenote review of all patients with a gastrostomy, followed-up at the Hammersmith Hospital, London, was undertaken to assess the indications for, and outcomes of, gastrostomy placement. Notes for 32 patients (17 males, 15 females) were reviewed (age range 32mo-31y; median age 12y 5mo). We found three main groups of diagnoses: congenital muscular dystrophy (n=15), structural congenital myopathies (n=11), and other neuromuscular disorders (n=6). Two main patterns of feeding problems were identified before gastrostomy: swallowing difficulties, and nutrition and growth problems. The follow-up period after gastrostomy was from 12 months to 19 years (mean 5y). Weight faltering was reversed in 17 out of 22 patients, and height faltering in 9 out of 14, where data were available. Twenty-six patients had a reduced frequency of chest infections. No significant complication of gastrostomy placement was documented. Twenty-eight patients or their families were happy with the results of the gastrostomy. Gastrostomy seems to have a substantial positive impact in patients with neuromuscular disease and feeding difficulties.