Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.

Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being symptomatic and supportive. This study provides a comprehensive review of the clinical features, comorbidities and multidisciplinary management of a well-characterized cohort of females with classical Rett syndrome. We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals. The Rett syndrome Multidisciplinary Management clinic at The Children's Hospital at Westmead, Sydney, Australia, was established in 2000. This retrospective analysis of individuals who attended the clinic from 2000 to 2020 was performed to identify the incidence and predicted age of onset of Rett syndrome related comorbidities, disease progression and to review management principles. Data collected included age of Rett syndrome diagnosis, MECP2 genotype, clinical features and medical comorbidities, such as sleep disturbance, seizures, breathing irregularities, scoliosis, mobility, hand stereotypies, hand function, constipation, feeding ability, use of gastrostomy, communication skills, QTc prolongation, anthropometry, and bruxism. Analysis of 103 girls who fulfilled the clinical diagnostic criteria for classical Rett syndrome with a pathogenic variant of the MECP2 gene showed a median age of diagnosis of 3 years. The most frequent MECP2 variant was c.502 C>T.

Surgically Acquired Vocal Cord Palsy in Infants and Children with Congenital Heart Disease (CHD): Description of Feeding Outcomes.

Impaired swallowing in infants can impact upon the ability to feed orally, often resulting in dependency on supplementary feeding. Such difficulties can lead to an increased burden of care and associated costs. The primary aim of this study was to investigate the impact of vocal cord palsy (VCP), acquired intraoperatively during cardiac surgery, on the feeding outcomes of infants at a tertiary metropolitan children's hospital. An additional aim was to obtain preliminary information on the impact of feeding difficulties in this group on the quality of life of parents and families. A review of 48 patients who had been referred to the speech pathology service was undertaken. Participants presented with heterogeneous cardiac diagnoses, and had an initial Videofluoroscopic Swallow Study (VFSS) at a median corrected age of 3.6 weeks. Sixty percent of participants presented with silent aspiration on VFSS. Thirty percent of participants required supplementary tube feeding more than 6 months post-surgery. Six percent of participants with poor feeding progress and persistent aspiration required further surgical intervention to support nutrition. Findings revealed no significant relationship between participant factors and the presence of feeding difficulties, however, infants with concomitant genetic and syndromic conditions were found to be most at-risk for long-term feeding difficulties. Analysis of informal parent questionnaire responses indicated parents experienced stress and anxiety after their child's discharge. This was noted in regard to their child's feeding, which impacts quality of life across a number of domains. Findings of this study highlight the importance of communicating the potential feeding difficulties to parents of at-risk infants prior to cardiac surgery. This study further highlighted the importance of routine post-operative otorhinolaryngology examinations following high-risk surgeries, as well as speech pathology management for all infants and children identified with VCP. Post-operative input from appropriately trained Speech Pathologists is vital in assisting parents to support and mitigate their child's difficulties through the provision of early intervention for feeding difficulties.

Thickened Formulas Used for Infants with Dysphagia: Influence of Time and Temperature.

Infant dysphagia is commonly managed using thickened formulas. Substantial research investigates thickening of a variety of beverages for adults and children, yet few studies address the unique considerations of thickened formula for infants. Understanding the consistency and behaviour of thickened formula will guide clinicians and parents to make informed decisions to minimise risk of aspiration. To investigate the effect of time and storage temperature on the flow properties of thickened formula, four formulas and two thickeners currently utilised at a major metropolitan children's hospital in Australia were tested in combinations, at refrigerated and room temperatures. Their flow properties were measured at three time-points (baseline, 1 h, 24 h) using the International Dysphagia Diet Standardisation Initiative (IDDSI) Flow Test, the current clinical standard for classifying drinks based on flow properties. A combination of paired t tests, Wilcoxon Signed-Rank tests, repeated measures analysis of variance (ANOVA) and Cohen's d was used to statistically compare flow properties and determine the significance of the observed data. At baseline, 98% (n = 48) of the thickened formula bottles were measured as thinner than the "mildly thick" IDDSI category to which they were prepared. Conversely, at 24 h, 17% were measured thicker than "mildly thick" whilst 10% measured too thin for the category "mildly thick". Refrigerated samples increased in thickness more significantly over time compared to those stored at room temperature. Two of the formulas, when thickened, resulted in a foamy mixture non-compatible with IDDSI Flow Test measurement. As a result, these two formulas were not subjected to further testing. All the tested commercial products behaved differently to each other and were unstable over varying times and temperatures. This finding indicates the need for improved guidelines regarding preparation and storage of thickened fluids. Further investigation is recommended into the chemical processes underlying the observed deviations.

Motor Learning Feeding Interventions for Infants at Risk of Cerebral Palsy: A Systematic Review.

Feeding difficulties and dysphagia are common in cerebral palsy (CP) and can lead to deficiencies of development and aspiration pneumonia; a leading cause of death in CP. Motor learning interventions have shown positive results in other clinical areas and may be beneficial for this population. This systematic review appraises research that addresses the question: are motor learning-based interventions more effective than compensatory strategies alone in treating dysphagia in infants with, or at risk of, CP?. Systematic searches were conducted in nine electronic databases. All levels of evidence, with at least one infant between 37 weeks post-menstrual age and 12 months corrected age who were at risk of, or diagnosed with CP, implemented interventions which aimed to improve oropharyngeal function for feeding, and aligned with at least two motor learning principles, were included. Studies were appraised by two independent reviewers using the Cho & Bero Instrument and GRADE. One historical case-control study and four case series met inclusion criteria. All involved a combination of motor learning interventions and compensatory strategies, which do not traditionally align with motor learning principles. All studies reported improvements in oral feeding outcomes, however, only three reported statistical analysis. The best available evidence collectively demonstrated a very weak positive effect for motor learning-based interventions for feeding difficulties in infants with, or at risk of, CP.

Gastrointestinal and nutritional problems in severe developmental disability.

The aim of this study was to describe the experience of 452 children and adults with a severe developmental disability who presented to a multidisciplinary clinic with swallowing, nutritional, and gastrointestinal problems. Data were obtained by chart review. Two hundred and ninety-four children (age range 7 mo-19 y, 173 males, 121 females) and 158 adults (age range 18-53 y; 90 males, 68 females) were assessed over 5 years. One hundred and eighty-two children and 86 adults had cerebral palsy. Approximately 90% were wheelchair dependent and totally dependent on caregivers for feeding; 60% had epilepsy. Pulmonary aspiration was identified by oesophageal videofluoroscopy in 41% of 174 children and 47% of 34 adults. Chronic oesophagitis and Helicobacter pylori were found in 57% of 182 children and 76% of 66 adults undergoing endoscopy. Chronic suppurative lung disease was identified by computerized axial tomography in 94% of 62 children and all six adults studied. Most patients improved with simple interventions. However, gastrostomy was recommended in 140 children and performed in 91, and in 10 adults but performed in seven, whereas fundoplication was recommended in 111 children and performed in 74, and in six adults but performed in two. In conclusion, chronic oesophagitis, pulmonary aspiration, and chronic lung disease were identified in many patients with a severe developmental disability.