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.
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http://dx.doi.org/10.1007/s00455-021-10390-5 | DOI Listing |
Eur Eat Disord Rev
January 2025
UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Objective: To conduct a proof-of-concept pilot study of a CBT guided self-help intervention for children and young people with eating disorders.
Method: Children and young people were recruited from two outpatient eating disorder services in England. They received a CBT guided self-help intervention consisting of eight modules and weekly support sessions.
Case Rep Med
December 2024
Operative Unit of Neonatology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Congenital arhinia and hyporhinia are rare facial anomalies whose knowledge usually comes from case reports. The severity of each case described in literature is variable; it also depends on associated malformations too. Since the newborns are obligate nasal breathers, babies with arhinia or hyporhinia usually have respiratory distress and need airway stabilization.
View Article and Find Full Text PDFFront Pediatr
December 2024
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A. Cao", University of Cagliari, Cagliari, Italy.
Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
Eur J Hum Genet
December 2024
Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Institut Thématique Interdisciplinaire TRANSPLANTEX NG, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, France.
RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.
View Article and Find Full Text PDFGenet Med
December 2024
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:
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